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https://rarediseases.info.nih.gov/diseases/10106/osteopetrosis-hypogammaglobulinemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10108/myasthenic-syndrome-congenital-4c-associated-with-acetylcholine-receptor-deficiency
https://rarediseases.info.nih.gov/diseases/10108/myasthenic-syndrome-congenital-4c-associated-with-acetylcholine-receptor-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10109/cornelia-de-lange-syndrome
https://rarediseases.info.nih.gov/diseases/10109/cornelia-de-lange-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10116/ichthyosis-hypotrichosis-syndrome
https://rarediseases.info.nih.gov/diseases/10116/ichthyosis-hypotrichosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease
https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen
https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen/diagnosis
https://rarediseases.info.nih.gov/diseases/10120/macular-dystrophy-vitelliform-1
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https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy
https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2
https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10127/leydig-cell-hypoplasia-due-to-lhb-deficiency
https://rarediseases.info.nih.gov/diseases/10127/leydig-cell-hypoplasia-due-to-lhb-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10128/isolated-follicle-stimulating-hormone-deficiency
https://rarediseases.info.nih.gov/diseases/10128/isolated-follicle-stimulating-hormone-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10129/isolated-thyroid-stimulating-hormone-deficiency
https://rarediseases.info.nih.gov/diseases/10129/isolated-thyroid-stimulating-hormone-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10130/monosomy-22q133
https://rarediseases.info.nih.gov/diseases/10130/monosomy-22q133/diagnosis
https://rarediseases.info.nih.gov/diseases/10131/hereditary-motor-and-sensory-neuropathy-okinawa-type
https://rarediseases.info.nih.gov/diseases/10131/hereditary-motor-and-sensory-neuropathy-okinawa-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10132/charcot-marie-tooth-disease-type-4g
https://rarediseases.info.nih.gov/diseases/10132/charcot-marie-tooth-disease-type-4g/diagnosis
https://rarediseases.info.nih.gov/diseases/10133/distal-hereditary-motor-neuropathy-jerash-type
https://rarediseases.info.nih.gov/diseases/10133/distal-hereditary-motor-neuropathy-jerash-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10138/primary-dystonia-dyt4-type
https://rarediseases.info.nih.gov/diseases/10138/primary-dystonia-dyt4-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome
https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic
https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic/diagnosis
https://rarediseases.info.nih.gov/diseases/10142/osteogenesis-imperfecta-type-2
https://rarediseases.info.nih.gov/diseases/10142/osteogenesis-imperfecta-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3
https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10145/17p112-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/10145/17p112-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10147/bor-syndrome
https://rarediseases.info.nih.gov/diseases/10147/bor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10148/branchiootic-syndrome
https://rarediseases.info.nih.gov/diseases/10148/branchiootic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia
https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10152/osteogenesis-imperfecta-type-viii
https://rarediseases.info.nih.gov/diseases/10152/osteogenesis-imperfecta-type-viii/diagnosis
https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease
https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10156/congenital-chylothorax
https://rarediseases.info.nih.gov/diseases/10156/congenital-chylothorax/diagnosis
https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia
https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia/diagnosis
https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome
https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10165/nonseminomatous-germ-cell-tumor
https://rarediseases.info.nih.gov/diseases/10165/nonseminomatous-germ-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2
https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-defect
https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-defect
https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta
https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta/diagnosis
https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia
https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor
https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/10177/mirizzi-syndrome
https://rarediseases.info.nih.gov/diseases/10177/mirizzi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome
https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma
https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10184/hereditary-cryohydrocytosis-with-normal-stomatin
https://rarediseases.info.nih.gov/diseases/10184/hereditary-cryohydrocytosis-with-normal-stomatin/diagnosis
https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome
https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10190/isolated-focal-cortical-dysplasia-type-ii
https://rarediseases.info.nih.gov/diseases/10190/isolated-focal-cortical-dysplasia-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/10193/subcutaneous-panniculitis-like-t-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/10193/subcutaneous-panniculitis-like-t-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2
https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10199/early-onset-x-linked-optic-atrophy
https://rarediseases.info.nih.gov/diseases/10199/early-onset-x-linked-optic-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/102/neu-laxova-syndrome
https://rarediseases.info.nih.gov/diseases/102/neu-laxova-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10200/optic-atrophy-6
https://rarediseases.info.nih.gov/diseases/10200/optic-atrophy-6/diagnosis
https://rarediseases.info.nih.gov/diseases/10201/optic-atrophy-5
https://rarediseases.info.nih.gov/diseases/10201/optic-atrophy-5/diagnosis
https://rarediseases.info.nih.gov/diseases/10202/2q37-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10202/2q37-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract
https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5
https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5/diagnosis
https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6
https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6/diagnosis
https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7
https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7/diagnosis
https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8
https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8/diagnosis
https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9
https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9/diagnosis
https://rarediseases.info.nih.gov/diseases/10209/bardet-biedl-syndrome-10
https://rarediseases.info.nih.gov/diseases/10209/bardet-biedl-syndrome-10/diagnosis
https://rarediseases.info.nih.gov/diseases/10210/bardet-biedl-syndrome-11
https://rarediseases.info.nih.gov/diseases/10210/bardet-biedl-syndrome-11/diagnosis
https://rarediseases.info.nih.gov/diseases/10211/bardet-biedl-syndrome-12
https://rarediseases.info.nih.gov/diseases/10211/bardet-biedl-syndrome-12/diagnosis
https://rarediseases.info.nih.gov/diseases/10214/neonatal-intrahepatic-cholestasis-due-to-citrin-deficiency
https://rarediseases.info.nih.gov/diseases/10214/neonatal-intrahepatic-cholestasis-due-to-citrin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10215/citrullinemia-type-ii
https://rarediseases.info.nih.gov/diseases/10215/citrullinemia-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/10216/nde1-related-microhydranencephaly
https://rarediseases.info.nih.gov/diseases/10216/nde1-related-microhydranencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/10220/spondyloepiphyseal-dysplasia-with-metatarsal-shortening
https://rarediseases.info.nih.gov/diseases/10220/spondyloepiphyseal-dysplasia-with-metatarsal-shortening/diagnosis
https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10224/zygomycosis
https://rarediseases.info.nih.gov/diseases/10224/zygomycosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b
https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b/diagnosis
https://rarediseases.info.nih.gov/diseases/10226/cog1-cdg
https://rarediseases.info.nih.gov/diseases/10226/cog1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/10227/cataract-posterior-polar-3
https://rarediseases.info.nih.gov/diseases/10227/cataract-posterior-polar-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10228/cataract-posterior-polar-4
https://rarediseases.info.nih.gov/diseases/10228/cataract-posterior-polar-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10229/autosomal-dominant-limb-girdle-muscular-dystrophy-type-1a
https://rarediseases.info.nih.gov/diseases/10229/autosomal-dominant-limb-girdle-muscular-dystrophy-type-1a/diagnosis
https://rarediseases.info.nih.gov/diseases/10230/emery-dreifuss-muscular-dystrophy-2-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/10230/emery-dreifuss-muscular-dystrophy-2-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/10234/cataract-posterior-polar-1
https://rarediseases.info.nih.gov/diseases/10234/cataract-posterior-polar-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10236/cataract-posterior-polar-5
https://rarediseases.info.nih.gov/diseases/10236/cataract-posterior-polar-5/diagnosis
https://rarediseases.info.nih.gov/diseases/10237/biotin-thiamine-responsive-basal-ganglia-disease
https://rarediseases.info.nih.gov/diseases/10237/biotin-thiamine-responsive-basal-ganglia-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10239/h-syndrome
https://rarediseases.info.nih.gov/diseases/10239/h-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3
https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10244/familial-lipase-maturation-factor-1-deficiency
https://rarediseases.info.nih.gov/diseases/10244/familial-lipase-maturation-factor-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1025/bronchogenic-cyst
https://rarediseases.info.nih.gov/diseases/1025/bronchogenic-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/10252/primary-sjgren-syndrome
https://rarediseases.info.nih.gov/diseases/10252/primary-sjgren-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10263/hydatidiform-mole
https://rarediseases.info.nih.gov/diseases/10263/hydatidiform-mole/diagnosis
https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma
https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma/diagnosis
https://rarediseases.info.nih.gov/diseases/10265/pityriasis-lichenoides
https://rarediseases.info.nih.gov/diseases/10265/pityriasis-lichenoides/diagnosis
https://rarediseases.info.nih.gov/diseases/10266/hereditary-cerebral-hemorrhage-with-amyloidosis
https://rarediseases.info.nih.gov/diseases/10266/hereditary-cerebral-hemorrhage-with-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10267/hyper-beta-alaninemia
https://rarediseases.info.nih.gov/diseases/10267/hyper-beta-alaninemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10277/adducted-thumbs-arthrogryposis-syndrome-christian-type
https://rarediseases.info.nih.gov/diseases/10277/adducted-thumbs-arthrogryposis-syndrome-christian-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10280/isolated-klippel-feil-syndrome
https://rarediseases.info.nih.gov/diseases/10280/isolated-klippel-feil-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis
https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10287/rolandic-epilepsy
https://rarediseases.info.nih.gov/diseases/10287/rolandic-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/10288/neutral-lipid-storage-myopathy
https://rarediseases.info.nih.gov/diseases/10288/neutral-lipid-storage-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency
https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1029/bruck-syndrome
https://rarediseases.info.nih.gov/diseases/1029/bruck-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10290/wormian-bone-multiple-fractures-dentinogenesis-imperfecta-skeletal-dysplasia
https://rarediseases.info.nih.gov/diseases/10290/wormian-bone-multiple-fractures-dentinogenesis-imperfecta-skeletal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceus-syndrome
https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10294/autosomal-recessive-ataxia-due-to-ubiquinone-deficiency
https://rarediseases.info.nih.gov/diseases/10294/autosomal-recessive-ataxia-due-to-ubiquinone-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10295/syndactyly-telecanthus-anogenital-and-renal-malformations-syndrome
https://rarediseases.info.nih.gov/diseases/10295/syndactyly-telecanthus-anogenital-and-renal-malformations-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1030/brugada-syndrome
https://rarediseases.info.nih.gov/diseases/1030/brugada-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10300/microtia-eye-coloboma-imperforation-of-the-nasolacrimal-duct-syndrome
https://rarediseases.info.nih.gov/diseases/10300/microtia-eye-coloboma-imperforation-of-the-nasolacrimal-duct-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10301/autosomal-recessive-bestrophinopathy
https://rarediseases.info.nih.gov/diseases/10301/autosomal-recessive-bestrophinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10302/serkal-syndrome
https://rarediseases.info.nih.gov/diseases/10302/serkal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10303/autism-facial-port-wine-stain-syndrome
https://rarediseases.info.nih.gov/diseases/10303/autism-facial-port-wine-stain-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10306/nephrogenic-syndrome-of-inappropriate-antidiuresis
https://rarediseases.info.nih.gov/diseases/10306/nephrogenic-syndrome-of-inappropriate-antidiuresis/diagnosis
https://rarediseases.info.nih.gov/diseases/10307/congenital-disorder-of-glycosylation
https://rarediseases.info.nih.gov/diseases/10307/congenital-disorder-of-glycosylation/diagnosis
https://rarediseases.info.nih.gov/diseases/10311/immunodeficiency-due-to-interleukin-1-receptor-associated-kinase-4-deficiency
https://rarediseases.info.nih.gov/diseases/10311/immunodeficiency-due-to-interleukin-1-receptor-associated-kinase-4-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10312/neurogenic-scapuloperoneal-syndrome-kaeser-type
https://rarediseases.info.nih.gov/diseases/10312/neurogenic-scapuloperoneal-syndrome-kaeser-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10314/scapuloperoneal-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/10314/scapuloperoneal-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10316/congenital-multicore-myopathy-with-external-ophthalmoplegia
https://rarediseases.info.nih.gov/diseases/10316/congenital-multicore-myopathy-with-external-ophthalmoplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/10317/megaconial-congenital-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/10317/megaconial-congenital-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10319/autosomal-dominant-prognathism
https://rarediseases.info.nih.gov/diseases/10319/autosomal-dominant-prognathism/diagnosis
https://rarediseases.info.nih.gov/diseases/10320/corneal-dystrophy-lattice-type-iiia
https://rarediseases.info.nih.gov/diseases/10320/corneal-dystrophy-lattice-type-iiia/diagnosis
https://rarediseases.info.nih.gov/diseases/10321/3-methylglutaconic-aciduria-type-1
https://rarediseases.info.nih.gov/diseases/10321/3-methylglutaconic-aciduria-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10323/l-arginineglycine-amidinotransferase-deficiency
https://rarediseases.info.nih.gov/diseases/10323/l-arginineglycine-amidinotransferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria
https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria/diagnosis
https://rarediseases.info.nih.gov/diseases/10327/progressive-encephalopathy-with-leukodystrophy-due-to-decr-deficiency
https://rarediseases.info.nih.gov/diseases/10327/progressive-encephalopathy-with-leukodystrophy-due-to-decr-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1033/x-linked-agammaglobulinemia
https://rarediseases.info.nih.gov/diseases/1033/x-linked-agammaglobulinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3
https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10333/sickle-cell-beta-thalassemia-disease-syndrome
https://rarediseases.info.nih.gov/diseases/10333/sickle-cell-beta-thalassemia-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-1
https://rarediseases.info.nih.gov/diseases/10335/mucopolysaccharidosis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10339/severe-combined-immunodeficiency-due-to-complete-rag12-deficiency
https://rarediseases.info.nih.gov/diseases/10339/severe-combined-immunodeficiency-due-to-complete-rag12-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10341/megalencephaly-polymicrogyria-postaxial-polydactyly-hydrocephalus-syndrome
https://rarediseases.info.nih.gov/diseases/10341/megalencephaly-polymicrogyria-postaxial-polydactyly-hydrocephalus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10342/3-methylglutaconic-aciduria-type-4
https://rarediseases.info.nih.gov/diseases/10342/3-methylglutaconic-aciduria-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10346/gamma-heavy-chain-disease
https://rarediseases.info.nih.gov/diseases/10346/gamma-heavy-chain-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10350/acquired-hemophilia
https://rarediseases.info.nih.gov/diseases/10350/acquired-hemophilia/diagnosis
https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6
https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/10352/familial-platelet-disorder-with-associated-myeloid-malignancy
https://rarediseases.info.nih.gov/diseases/10352/familial-platelet-disorder-with-associated-myeloid-malignancy/diagnosis
https://rarediseases.info.nih.gov/diseases/10353/porphyria
https://rarediseases.info.nih.gov/diseases/10353/porphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/10354/omphalocele-diaphragmatic-hernia-cardiovascular-anomalies-radial-ray-defect-syndrome
https://rarediseases.info.nih.gov/diseases/10354/omphalocele-diaphragmatic-hernia-cardiovascular-anomalies-radial-ray-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve
https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve/diagnosis
https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets
https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets/diagnosis
https://rarediseases.info.nih.gov/diseases/10358/intellectual-disability-birk-barel-type
https://rarediseases.info.nih.gov/diseases/10358/intellectual-disability-birk-barel-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt
https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt/diagnosis
https://rarediseases.info.nih.gov/diseases/10360/3q29-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/10360/3q29-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3
https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4
https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10363/idiopathic-trachyonychia
https://rarediseases.info.nih.gov/diseases/10363/idiopathic-trachyonychia/diagnosis
https://rarediseases.info.nih.gov/diseases/10365/dopa-responsive-dystonia-due-to-sepiapterin-reductase-deficiency
https://rarediseases.info.nih.gov/diseases/10365/dopa-responsive-dystonia-due-to-sepiapterin-reductase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10366/toriello-lacassie-droste-syndrome
https://rarediseases.info.nih.gov/diseases/10366/toriello-lacassie-droste-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome
https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1037/primary-basilar-invagination
https://rarediseases.info.nih.gov/diseases/1037/primary-basilar-invagination/diagnosis
https://rarediseases.info.nih.gov/diseases/10372/trehalase-deficiency
https://rarediseases.info.nih.gov/diseases/10372/trehalase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1038/hereditary-bullous-dystrophy-macular-type
https://rarediseases.info.nih.gov/diseases/1038/hereditary-bullous-dystrophy-macular-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1039/autosomal-dominant-epidermolytic-ichthyosis
https://rarediseases.info.nih.gov/diseases/1039/autosomal-dominant-epidermolytic-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/104/ochoa-syndrome
https://rarediseases.info.nih.gov/diseases/104/ochoa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10407/rapid-onset-childhood-obesity-hypothalamic-dysfunction-hypoventilation-autonomic-dysregulation-syndrome
https://rarediseases.info.nih.gov/diseases/10407/rapid-onset-childhood-obesity-hypothalamic-dysfunction-hypoventilation-autonomic-dysregulation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10411/small-cell-carcinoma-of-the-ovary
https://rarediseases.info.nih.gov/diseases/10411/small-cell-carcinoma-of-the-ovary/diagnosis
https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease
https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10414/goblet-cell-carcinoma
https://rarediseases.info.nih.gov/diseases/10414/goblet-cell-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10416/homozygous-familial-hypercholesterolemia
https://rarediseases.info.nih.gov/diseases/10416/homozygous-familial-hypercholesterolemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10418/hemophilia
https://rarediseases.info.nih.gov/diseases/10418/hemophilia/diagnosis
https://rarediseases.info.nih.gov/diseases/10419/myotonic-dystrophy
https://rarediseases.info.nih.gov/diseases/10419/myotonic-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10420/neurofibromatosis
https://rarediseases.info.nih.gov/diseases/10420/neurofibromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency
https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10424/cerebral-autosomal-recessive-arteriopathy-subcortical-infarcts-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/10424/cerebral-autosomal-recessive-arteriopathy-subcortical-infarcts-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10427/x-linked-hypohidrotic-ectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/10427/x-linked-hypohidrotic-ectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10428/pure-autonomic-failure
https://rarediseases.info.nih.gov/diseases/10428/pure-autonomic-failure/diagnosis
https://rarediseases.info.nih.gov/diseases/10429/autosomal-dominant-brachyolmia
https://rarediseases.info.nih.gov/diseases/10429/autosomal-dominant-brachyolmia/diagnosis
https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome
https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma
https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10432/cardiac-arrhythmia-ankyrin-b-related
https://rarediseases.info.nih.gov/diseases/10432/cardiac-arrhythmia-ankyrin-b-related/diagnosis
https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5
https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5/diagnosis
https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6
https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6/diagnosis
https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9
https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9/diagnosis
https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10
https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10/diagnosis
https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11
https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11/diagnosis
https://rarediseases.info.nih.gov/diseases/10438/microcystic-adnexal-carcinoma
https://rarediseases.info.nih.gov/diseases/10438/microcystic-adnexal-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/1044/buschke-ollendorff-syndrome
https://rarediseases.info.nih.gov/diseases/1044/buschke-ollendorff-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis
https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency
https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic
https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic/diagnosis
https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome
https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10457/isolated-permanent-neonatal-diabetes-mellitus
https://rarediseases.info.nih.gov/diseases/10457/isolated-permanent-neonatal-diabetes-mellitus/diagnosis
https://rarediseases.info.nih.gov/diseases/10460/gcgr-related-hyperglucagonemia
https://rarediseases.info.nih.gov/diseases/10460/gcgr-related-hyperglucagonemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10464/malignant-cylindroma
https://rarediseases.info.nih.gov/diseases/10464/malignant-cylindroma/diagnosis
https://rarediseases.info.nih.gov/diseases/10467/multifocal-lymphangioendotheliomatosis-thrombocytopenia-syndrome
https://rarediseases.info.nih.gov/diseases/10467/multifocal-lymphangioendotheliomatosis-thrombocytopenia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10468/cardiac-rupture
https://rarediseases.info.nih.gov/diseases/10468/cardiac-rupture/diagnosis
https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-type-17
https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-type-17/diagnosis
https://rarediseases.info.nih.gov/diseases/10470/bk-virus-nephropathy
https://rarediseases.info.nih.gov/diseases/10470/bk-virus-nephropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10471/telethonin-related-limb-girdle-muscular-dystrophy-r7
https://rarediseases.info.nih.gov/diseases/10471/telethonin-related-limb-girdle-muscular-dystrophy-r7/diagnosis
https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria
https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/10474/spinocerebellar-ataxia-type-10
https://rarediseases.info.nih.gov/diseases/10474/spinocerebellar-ataxia-type-10/diagnosis
https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-type-11
https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-type-11/diagnosis
https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-type-12
https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-type-12/diagnosis
https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-type-1516
https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-type-1516/diagnosis
https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-type-29
https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-type-29/diagnosis
https://rarediseases.info.nih.gov/diseases/10481/spinocerebellar-ataxia-9
https://rarediseases.info.nih.gov/diseases/10481/spinocerebellar-ataxia-9/diagnosis
https://rarediseases.info.nih.gov/diseases/10484/infantile-dystonia-parkinsonism
https://rarediseases.info.nih.gov/diseases/10484/infantile-dystonia-parkinsonism/diagnosis
https://rarediseases.info.nih.gov/diseases/10486/craniopharyngioma
https://rarediseases.info.nih.gov/diseases/10486/craniopharyngioma/diagnosis
https://rarediseases.info.nih.gov/diseases/1049/cerebral-autosomal-dominant-arteriopathy-subcortical-infarcts-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/1049/cerebral-autosomal-dominant-arteriopathy-subcortical-infarcts-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma
https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia
https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10494/meconium-aspiration-syndrome
https://rarediseases.info.nih.gov/diseases/10494/meconium-aspiration-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/105/oculocerebral-hypopigmentation-syndrome-cross-type
https://rarediseases.info.nih.gov/diseases/105/oculocerebral-hypopigmentation-syndrome-cross-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4
https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10504/craniorachischisis
https://rarediseases.info.nih.gov/diseases/10504/craniorachischisis/diagnosis
https://rarediseases.info.nih.gov/diseases/10505/cryptophthalmia
https://rarediseases.info.nih.gov/diseases/10505/cryptophthalmia/diagnosis
https://rarediseases.info.nih.gov/diseases/10506/iniencephaly
https://rarediseases.info.nih.gov/diseases/10506/iniencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/10508/bartter-syndrome-type-4
https://rarediseases.info.nih.gov/diseases/10508/bartter-syndrome-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10509/acquired-partial-lipodystrophy
https://rarediseases.info.nih.gov/diseases/10509/acquired-partial-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1051/caffey-disease
https://rarediseases.info.nih.gov/diseases/1051/caffey-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease
https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10511/sorsby-fundus-dystrophy
https://rarediseases.info.nih.gov/diseases/10511/sorsby-fundus-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type
https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10514/east-syndrome
https://rarediseases.info.nih.gov/diseases/10514/east-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10515/congenital-tracheomalacia
https://rarediseases.info.nih.gov/diseases/10515/congenital-tracheomalacia/diagnosis
https://rarediseases.info.nih.gov/diseases/10516/sterile-multifocal-osteomyelitis-with-periostitis-and-pustulosis
https://rarediseases.info.nih.gov/diseases/10516/sterile-multifocal-osteomyelitis-with-periostitis-and-pustulosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/1052/cataract-hypertrichosis-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/1052/cataract-hypertrichosis-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-type-9
https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-type-9/diagnosis
https://rarediseases.info.nih.gov/diseases/10522/congenital-cataract-progressive-muscular-hypotonia-hearing-loss-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/10522/congenital-cataract-progressive-muscular-hypotonia-hearing-loss-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10523/combined-immunodeficiency-due-to-stim1-deficiency
https://rarediseases.info.nih.gov/diseases/10523/combined-immunodeficiency-due-to-stim1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10524/combined-immunodeficiency-due-to-orai1-deficiency
https://rarediseases.info.nih.gov/diseases/10524/combined-immunodeficiency-due-to-orai1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10525/15q112-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10525/15q112-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type
https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy
https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1053/limited-cutaneous-systemic-sclerosis
https://rarediseases.info.nih.gov/diseases/1053/limited-cutaneous-systemic-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10533/x-linked-dystonia-parkinsonism
https://rarediseases.info.nih.gov/diseases/10533/x-linked-dystonia-parkinsonism/diagnosis
https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy
https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10536/primary-dystonia-dyt17-type
https://rarediseases.info.nih.gov/diseases/10536/primary-dystonia-dyt17-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10537/primary-dystonia-dyt13-type
https://rarediseases.info.nih.gov/diseases/10537/primary-dystonia-dyt13-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10538/autosomal-recessive-spastic-paraplegia-type-35
https://rarediseases.info.nih.gov/diseases/10538/autosomal-recessive-spastic-paraplegia-type-35/diagnosis
https://rarediseases.info.nih.gov/diseases/10539/dystonia-16
https://rarediseases.info.nih.gov/diseases/10539/dystonia-16/diagnosis
https://rarediseases.info.nih.gov/diseases/10541/paroxysmal-exertion-induced-dyskinesia
https://rarediseases.info.nih.gov/diseases/10541/paroxysmal-exertion-induced-dyskinesia/diagnosis
https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2
https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3
https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4
https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10550/mycobacterium-xenopi
https://rarediseases.info.nih.gov/diseases/10550/mycobacterium-xenopi/diagnosis
https://rarediseases.info.nih.gov/diseases/10556/cd4cd56-hematodermic-neoplasm
https://rarediseases.info.nih.gov/diseases/10556/cd4cd56-hematodermic-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10559/primary-interstitial-lung-disease-specific-to-childhood
https://rarediseases.info.nih.gov/diseases/10559/primary-interstitial-lung-disease-specific-to-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/10560/aa-amyloidosis
https://rarediseases.info.nih.gov/diseases/10560/aa-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10562/nodular-cutaneous-amyloidosis
https://rarediseases.info.nih.gov/diseases/10562/nodular-cutaneous-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10564/adenocarcinoma-of-the-appendix
https://rarediseases.info.nih.gov/diseases/10564/adenocarcinoma-of-the-appendix/diagnosis
https://rarediseases.info.nih.gov/diseases/1057/calpain-3-related-limb-girdle-muscular-dystrophy-r1
https://rarediseases.info.nih.gov/diseases/1057/calpain-3-related-limb-girdle-muscular-dystrophy-r1/diagnosis
https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome
https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3
https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10574/land-islands-eye-disease
https://rarediseases.info.nih.gov/diseases/10574/land-islands-eye-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10575/prostaglandin-endoperoxide-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/10575/prostaglandin-endoperoxide-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10578/hyper-igm-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/10578/hyper-igm-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10579/hyper-igm-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/10579/hyper-igm-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/1058/x-linked-calvarial-hyperostosis
https://rarediseases.info.nih.gov/diseases/1058/x-linked-calvarial-hyperostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10580/hyper-igm-syndrome-type-4
https://rarediseases.info.nih.gov/diseases/10580/hyper-igm-syndrome-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10581/hyper-igm-syndrome-type-5
https://rarediseases.info.nih.gov/diseases/10581/hyper-igm-syndrome-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome
https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10583/neonatal-ichthyosis-sclerosing-cholangitis-syndrome
https://rarediseases.info.nih.gov/diseases/10583/neonatal-ichthyosis-sclerosing-cholangitis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type
https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia
https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10586/loeys-dietz-syndrome-2
https://rarediseases.info.nih.gov/diseases/10586/loeys-dietz-syndrome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10587/adult-onset-autosomal-dominant-leukodystrophy
https://rarediseases.info.nih.gov/diseases/10587/adult-onset-autosomal-dominant-leukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10588/loeys-dietz-syndrome-4
https://rarediseases.info.nih.gov/diseases/10588/loeys-dietz-syndrome-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10590/mesoaxial-synostotic-syndactyly-with-phalangeal-reduction
https://rarediseases.info.nih.gov/diseases/10590/mesoaxial-synostotic-syndactyly-with-phalangeal-reduction/diagnosis
https://rarediseases.info.nih.gov/diseases/10591/1q211-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/10591/1q211-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10592/19q1311-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10592/19q1311-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10593/acute-infantile-liver-failure-due-to-synthesis-defect-of-mtdna-encoded-proteins
https://rarediseases.info.nih.gov/diseases/10593/acute-infantile-liver-failure-due-to-synthesis-defect-of-mtdna-encoded-proteins/diagnosis
https://rarediseases.info.nih.gov/diseases/10594/neurodegenerative-syndrome-due-to-cerebral-folate-transport-deficiency
https://rarediseases.info.nih.gov/diseases/10594/neurodegenerative-syndrome-due-to-cerebral-folate-transport-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10595/bnar-syndrome
https://rarediseases.info.nih.gov/diseases/10595/bnar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome
https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10598/carotid-body-tumor
https://rarediseases.info.nih.gov/diseases/10598/carotid-body-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/10599/glomus-jugulare-tumors
https://rarediseases.info.nih.gov/diseases/10599/glomus-jugulare-tumors/diagnosis
https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome
https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10601/pituitary-hormone-deficiency-combined-1
https://rarediseases.info.nih.gov/diseases/10601/pituitary-hormone-deficiency-combined-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10602/combined-pituitary-hormone-deficiencies-genetic-forms
https://rarediseases.info.nih.gov/diseases/10602/combined-pituitary-hormone-deficiencies-genetic-forms/diagnosis
https://rarediseases.info.nih.gov/diseases/10603/non-acquired-combined-pituitary-hormone-deficiency-sensorineural-hearing-loss-spine-abnormalities-syndrome
https://rarediseases.info.nih.gov/diseases/10603/non-acquired-combined-pituitary-hormone-deficiency-sensorineural-hearing-loss-spine-abnormalities-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10604/short-stature-pituitary-and-cerebellar-defects-small-sella-turcica-syndrome
https://rarediseases.info.nih.gov/diseases/10604/short-stature-pituitary-and-cerebellar-defects-small-sella-turcica-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia
https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10608/atelosteogenesis-type-iii
https://rarediseases.info.nih.gov/diseases/10608/atelosteogenesis-type-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/10609/growth-delay-due-to-insulin-like-growth-factor-i-resistance
https://rarediseases.info.nih.gov/diseases/10609/growth-delay-due-to-insulin-like-growth-factor-i-resistance/diagnosis
https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type
https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10611/spondyloepimetaphyseal-dysplasia-matrilin-3-type
https://rarediseases.info.nih.gov/diseases/10611/spondyloepimetaphyseal-dysplasia-matrilin-3-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10612/thoracomelic-dysplasia
https://rarediseases.info.nih.gov/diseases/10612/thoracomelic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis
https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis/diagnosis
https://rarediseases.info.nih.gov/diseases/10614/adrenomyeloneuropathy
https://rarediseases.info.nih.gov/diseases/10614/adrenomyeloneuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10615/telangiectasia-hereditary-hemorrhagic-type-4
https://rarediseases.info.nih.gov/diseases/10615/telangiectasia-hereditary-hemorrhagic-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10616/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome
https://rarediseases.info.nih.gov/diseases/10616/spondyloepimetaphyseal-dysplasia-short-limb-abnormal-calcification-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye
https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye/diagnosis
https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type
https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10619/osteogenesis-imperfecta-type-ix
https://rarediseases.info.nih.gov/diseases/10619/osteogenesis-imperfecta-type-ix/diagnosis
https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly
https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia
https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis
https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis
https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form
https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form/diagnosis
https://rarediseases.info.nih.gov/diseases/10624/spondyloepiphyseal-dysplasia-tarda
https://rarediseases.info.nih.gov/diseases/10624/spondyloepiphyseal-dysplasia-tarda/diagnosis
https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-ii
https://rarediseases.info.nih.gov/diseases/10625/complement-component-8-deficiency-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-i
https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/10627/growth-delay-due-to-insulin-like-growth-factor-type-1-deficiency
https://rarediseases.info.nih.gov/diseases/10627/growth-delay-due-to-insulin-like-growth-factor-type-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10629/spondyloepiphyseal-dysplasia-brachydactyly-speech-disorder-syndrome
https://rarediseases.info.nih.gov/diseases/10629/spondyloepiphyseal-dysplasia-brachydactyly-speech-disorder-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1063/idiopathic-camptocormia
https://rarediseases.info.nih.gov/diseases/1063/idiopathic-camptocormia/diagnosis
https://rarediseases.info.nih.gov/diseases/10630/congenital-tufting-enteropathy
https://rarediseases.info.nih.gov/diseases/10630/congenital-tufting-enteropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma
https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma
https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma
https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma
https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10635/astroblastoma
https://rarediseases.info.nih.gov/diseases/10635/astroblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma
https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma
https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma
https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma/diagnosis
https://rarediseases.info.nih.gov/diseases/1064/camptodactyly-fibrous-tissue-hyperplasia-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/1064/camptodactyly-fibrous-tissue-hyperplasia-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor
https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma
https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma
https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10643/carney-stratakis-syndrome
https://rarediseases.info.nih.gov/diseases/10643/carney-stratakis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10644/pineal-parenchymal-tumor-of-intermediate-differenciation
https://rarediseases.info.nih.gov/diseases/10644/pineal-parenchymal-tumor-of-intermediate-differenciation/diagnosis
https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation
https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation/diagnosis
https://rarediseases.info.nih.gov/diseases/10647/spondylometaphyseal-dysplasia-cone-rod-dystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/10647/spondylometaphyseal-dysplasia-cone-rod-dystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a
https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a/diagnosis
https://rarediseases.info.nih.gov/diseases/10649/cone-dystrophy-with-supernormal-rod-response
https://rarediseases.info.nih.gov/diseases/10649/cone-dystrophy-with-supernormal-rod-response/diagnosis
https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4
https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1
https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1
https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3
https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3
https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5
https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5/diagnosis
https://rarediseases.info.nih.gov/diseases/10656/cone-rod-dystrophy-6
https://rarediseases.info.nih.gov/diseases/10656/cone-rod-dystrophy-6/diagnosis
https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure
https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure/diagnosis
https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis
https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10667/autosomal-dominant-focal-dystonia-dyt25-type
https://rarediseases.info.nih.gov/diseases/10667/autosomal-dominant-focal-dystonia-dyt25-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1
https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma
https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency
https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10675/fetal-gaucher-disease
https://rarediseases.info.nih.gov/diseases/10675/fetal-gaucher-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10679/umod-related-autosomal-dominant-tubulointerstitial-kidney-disease
https://rarediseases.info.nih.gov/diseases/10679/umod-related-autosomal-dominant-tubulointerstitial-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2
https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b
https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c
https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c/diagnosis
https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2
https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10684/primary-lateral-sclerosis
https://rarediseases.info.nih.gov/diseases/10684/primary-lateral-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10686/neuroferritinopathy
https://rarediseases.info.nih.gov/diseases/10686/neuroferritinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/10688/neurodegeneration-with-brain-iron-accumulation-2b
https://rarediseases.info.nih.gov/diseases/10688/neurodegeneration-with-brain-iron-accumulation-2b/diagnosis
https://rarediseases.info.nih.gov/diseases/1069/camptodactyly-taurinuria-syndrome
https://rarediseases.info.nih.gov/diseases/1069/camptodactyly-taurinuria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10692/orofaciodigital-syndrome
https://rarediseases.info.nih.gov/diseases/10692/orofaciodigital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10693/orofaciodigital-syndrome-type-12
https://rarediseases.info.nih.gov/diseases/10693/orofaciodigital-syndrome-type-12/diagnosis
https://rarediseases.info.nih.gov/diseases/10694/orofaciodigital-syndrome-type-13
https://rarediseases.info.nih.gov/diseases/10694/orofaciodigital-syndrome-type-13/diagnosis
https://rarediseases.info.nih.gov/diseases/10695/atrial-septal-defect-ostium-primum-type
https://rarediseases.info.nih.gov/diseases/10695/atrial-septal-defect-ostium-primum-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10696/atrial-septal-defect-sinus-venosus-type
https://rarediseases.info.nih.gov/diseases/10696/atrial-septal-defect-sinus-venosus-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus-type
https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10704/pontocerebellar-hypoplasia-type-1
https://rarediseases.info.nih.gov/diseases/10704/pontocerebellar-hypoplasia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2
https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/10706/cirrhosis-dystonia-polycythemia-hypermanganesemia-syndrome
https://rarediseases.info.nih.gov/diseases/10706/cirrhosis-dystonia-polycythemia-hypermanganesemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10707/deafness-with-labyrinthine-aplasia-microtia-and-microdontia
https://rarediseases.info.nih.gov/diseases/10707/deafness-with-labyrinthine-aplasia-microtia-and-microdontia/diagnosis
https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3
https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5
https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type
https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6
https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/10712/progressive-transformation-of-germinal-centers
https://rarediseases.info.nih.gov/diseases/10712/progressive-transformation-of-germinal-centers/diagnosis
https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia
https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia/diagnosis
https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome
https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism
https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism/diagnosis
https://rarediseases.info.nih.gov/diseases/10716/hsd10-disease
https://rarediseases.info.nih.gov/diseases/10716/hsd10-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10718/heinz-body-anemias
https://rarediseases.info.nih.gov/diseases/10718/heinz-body-anemias/diagnosis
https://rarediseases.info.nih.gov/diseases/10719/noonan-syndrome-like-disorder-with-loose-anagen-hair
https://rarediseases.info.nih.gov/diseases/10719/noonan-syndrome-like-disorder-with-loose-anagen-hair/diagnosis
https://rarediseases.info.nih.gov/diseases/1072/camurati-engelmann-disease
https://rarediseases.info.nih.gov/diseases/1072/camurati-engelmann-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10727/koolen-de-vries-syndrome
https://rarediseases.info.nih.gov/diseases/10727/koolen-de-vries-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10728/fatal-congenital-hypertrophic-cardiomyopathy-due-to-glycogen-storage-disease
https://rarediseases.info.nih.gov/diseases/10728/fatal-congenital-hypertrophic-cardiomyopathy-due-to-glycogen-storage-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10729/chronic-visceral-acid-sphingomyelinase-deficiency
https://rarediseases.info.nih.gov/diseases/10729/chronic-visceral-acid-sphingomyelinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10730/pyridoxal-phosphate-responsive-seizures
https://rarediseases.info.nih.gov/diseases/10730/pyridoxal-phosphate-responsive-seizures/diagnosis
https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome
https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10732/leukoencephalopathy-with-calcifications-and-cysts
https://rarediseases.info.nih.gov/diseases/10732/leukoencephalopathy-with-calcifications-and-cysts/diagnosis
https://rarediseases.info.nih.gov/diseases/10734/pleuropulmonary-blastoma-familial-tumor-susceptibility-syndrome
https://rarediseases.info.nih.gov/diseases/10734/pleuropulmonary-blastoma-familial-tumor-susceptibility-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10737/posner-schlossman-syndrome
https://rarediseases.info.nih.gov/diseases/10737/posner-schlossman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3
https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10739/neuronal-ceroid-lipofuscinosis
https://rarediseases.info.nih.gov/diseases/10739/neuronal-ceroid-lipofuscinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10740/proximal-16p112-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10740/proximal-16p112-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10741/spondyloepimetaphyseal-dysplasia-handigodu-type
https://rarediseases.info.nih.gov/diseases/10741/spondyloepimetaphyseal-dysplasia-handigodu-type/diagnosis
https://rarediseases.info.nih.gov/diseases/10744/conjunctival-malignant-melanoma
https://rarediseases.info.nih.gov/diseases/10744/conjunctival-malignant-melanoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis
https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis/diagnosis
https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex
https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex/diagnosis
https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita
https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/10754/rubinstein-taybi-syndrome-due-to-16p133-microdeletion
https://rarediseases.info.nih.gov/diseases/10754/rubinstein-taybi-syndrome-due-to-16p133-microdeletion/diagnosis
https://rarediseases.info.nih.gov/diseases/10755/16p133-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/10755/16p133-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10756/multiple-epiphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/10756/multiple-epiphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism
https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/1076/systemic-candidiasis
https://rarediseases.info.nih.gov/diseases/1076/systemic-candidiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/10760/glycogen-storage-disease-due-to-muscle-and-heart-glycogen-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/10760/glycogen-storage-disease-due-to-muscle-and-heart-glycogen-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria
https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/10762/hereditary-arterial-and-articular-multiple-calcification-syndrome
https://rarediseases.info.nih.gov/diseases/10762/hereditary-arterial-and-articular-multiple-calcification-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10764/hypermethioninemia-due-to-glycine-n-methyltransferase-deficiency
https://rarediseases.info.nih.gov/diseases/10764/hypermethioninemia-due-to-glycine-n-methyltransferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10766/congenital-factor-xiii-deficiency
https://rarediseases.info.nih.gov/diseases/10766/congenital-factor-xiii-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10767/mogs-cdg
https://rarediseases.info.nih.gov/diseases/10767/mogs-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/10768/familial-or-sporadic-hemiplegic-migraine
https://rarediseases.info.nih.gov/diseases/10768/familial-or-sporadic-hemiplegic-migraine/diagnosis
https://rarediseases.info.nih.gov/diseases/10769/laing-early-onset-distal-myopathy
https://rarediseases.info.nih.gov/diseases/10769/laing-early-onset-distal-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1077/chronic-mucocutaneous-candidiasis
https://rarediseases.info.nih.gov/diseases/1077/chronic-mucocutaneous-candidiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/10770/homocystinuria
https://rarediseases.info.nih.gov/diseases/10770/homocystinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/10771/kallmann-syndrome
https://rarediseases.info.nih.gov/diseases/10771/kallmann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10772/hypogonadotropic-hypogonadism-4-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/10772/hypogonadotropic-hypogonadism-4-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/10773/hypogonadotropic-hypogonadism-5-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/10773/hypogonadotropic-hypogonadism-5-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/10774/hypogonadotropic-hypogonadism-6-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/10774/hypogonadotropic-hypogonadism-6-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/10775/syndromic-multisystem-autoimmune-disease-due-to-itch-deficiency
https://rarediseases.info.nih.gov/diseases/10775/syndromic-multisystem-autoimmune-disease-due-to-itch-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10777/peritoneal-cystic-mesothelioma
https://rarediseases.info.nih.gov/diseases/10777/peritoneal-cystic-mesothelioma/diagnosis
https://rarediseases.info.nih.gov/diseases/10778/recurrent-infection-due-to-specific-granule-deficiency
https://rarediseases.info.nih.gov/diseases/10778/recurrent-infection-due-to-specific-granule-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10779/clippers
https://rarediseases.info.nih.gov/diseases/10779/clippers/diagnosis
https://rarediseases.info.nih.gov/diseases/1078/hypogonadism-mitral-valve-prolapse-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/1078/hypogonadism-mitral-valve-prolapse-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia
https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10781/goldmann-favre-syndrome
https://rarediseases.info.nih.gov/diseases/10781/goldmann-favre-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10782/stickler-syndrome
https://rarediseases.info.nih.gov/diseases/10782/stickler-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria
https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria
https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria
https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria
https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/10787/spina-bifida-occulta
https://rarediseases.info.nih.gov/diseases/10787/spina-bifida-occulta/diagnosis
https://rarediseases.info.nih.gov/diseases/10788/loeys-dietz-syndrome
https://rarediseases.info.nih.gov/diseases/10788/loeys-dietz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10790/cone-rod-dystrophy
https://rarediseases.info.nih.gov/diseases/10790/cone-rod-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia
https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10792/semantic-dementia
https://rarediseases.info.nih.gov/diseases/10792/semantic-dementia/diagnosis
https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia
https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania
https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania/diagnosis
https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua
https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua/diagnosis
https://rarediseases.info.nih.gov/diseases/10796/hypnic-headache
https://rarediseases.info.nih.gov/diseases/10796/hypnic-headache/diagnosis
https://rarediseases.info.nih.gov/diseases/108/adult-polyglucosan-body-disease
https://rarediseases.info.nih.gov/diseases/108/adult-polyglucosan-body-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10801/autosomal-dominant-tubulointerstitial-kidney-disease
https://rarediseases.info.nih.gov/diseases/10801/autosomal-dominant-tubulointerstitial-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10803/lamellar-ichthyosis
https://rarediseases.info.nih.gov/diseases/10803/lamellar-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10804/metaplastic-carcinoma-of-the-breast
https://rarediseases.info.nih.gov/diseases/10804/metaplastic-carcinoma-of-the-breast/diagnosis
https://rarediseases.info.nih.gov/diseases/10805/mutyh-related-attenuated-familial-adenomatous-polyposis
https://rarediseases.info.nih.gov/diseases/10805/mutyh-related-attenuated-familial-adenomatous-polyposis/diagnosis
https://rarediseases.info.nih.gov/diseases/10806/female-restricted-epilepsy-with-intellectual-disability
https://rarediseases.info.nih.gov/diseases/10806/female-restricted-epilepsy-with-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome
https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome
https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10810/fatty-acid-hydroxylase-associated-neurodegeneration
https://rarediseases.info.nih.gov/diseases/10810/fatty-acid-hydroxylase-associated-neurodegeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/10813/1q211-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10813/1q211-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis
https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/10815/prothrombin-related-thrombophilia
https://rarediseases.info.nih.gov/diseases/10815/prothrombin-related-thrombophilia/diagnosis
https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus
https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus/diagnosis
https://rarediseases.info.nih.gov/diseases/10817/autosomal-dominant-spastic-paraplegia-type-31
https://rarediseases.info.nih.gov/diseases/10817/autosomal-dominant-spastic-paraplegia-type-31/diagnosis
https://rarediseases.info.nih.gov/diseases/10818/combined-malonic-and-methylmalonic-acidemia
https://rarediseases.info.nih.gov/diseases/10818/combined-malonic-and-methylmalonic-acidemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis
https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/10822/idiopathic-spontaneous-coronary-artery-dissection
https://rarediseases.info.nih.gov/diseases/10822/idiopathic-spontaneous-coronary-artery-dissection/diagnosis
https://rarediseases.info.nih.gov/diseases/10823/obesity-due-to-pro-opiomelanocortin-deficiency
https://rarediseases.info.nih.gov/diseases/10823/obesity-due-to-pro-opiomelanocortin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10824/cushing-syndrome-due-to-macronodular-adrenal-hyperplasia
https://rarediseases.info.nih.gov/diseases/10824/cushing-syndrome-due-to-macronodular-adrenal-hyperplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia
https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia/diagnosis
https://rarediseases.info.nih.gov/diseases/10828/familial-hypocalciuric-hypercalcemia
https://rarediseases.info.nih.gov/diseases/10828/familial-hypocalciuric-hypercalcemia/diagnosis
https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome
https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10830/nevus-of-ito
https://rarediseases.info.nih.gov/diseases/10830/nevus-of-ito/diagnosis
https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2-syndrome
https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3-syndrome
https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1084/systemic-capillary-leak-syndrome
https://rarediseases.info.nih.gov/diseases/1084/systemic-capillary-leak-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5-syndrome
https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11-syndrome
https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16-syndrome
https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10860/monosomy-21
https://rarediseases.info.nih.gov/diseases/10860/monosomy-21/diagnosis
https://rarediseases.info.nih.gov/diseases/10866/proximal-chromosome-18q-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/10866/proximal-chromosome-18q-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10869/mosaic-trisomy-13
https://rarediseases.info.nih.gov/diseases/10869/mosaic-trisomy-13/diagnosis
https://rarediseases.info.nih.gov/diseases/10870/free-sialic-acid-storage-disease
https://rarediseases.info.nih.gov/diseases/10870/free-sialic-acid-storage-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10872/malignant-peripheral-nerve-sheath-tumor
https://rarediseases.info.nih.gov/diseases/10872/malignant-peripheral-nerve-sheath-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/10875/heterotaxia
https://rarediseases.info.nih.gov/diseases/10875/heterotaxia/diagnosis
https://rarediseases.info.nih.gov/diseases/10876/congenital-radioulnar-synostosis
https://rarediseases.info.nih.gov/diseases/10876/congenital-radioulnar-synostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis
https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10878/familial-normophosphatemic-tumoral-calcinosis
https://rarediseases.info.nih.gov/diseases/10878/familial-normophosphatemic-tumoral-calcinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10879/familial-hyperphosphatemic-tumoral-calcinosishyperphosphatemic-hyperostosis-syndrome
https://rarediseases.info.nih.gov/diseases/10879/familial-hyperphosphatemic-tumoral-calcinosishyperphosphatemic-hyperostosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia
https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia/diagnosis
https://rarediseases.info.nih.gov/diseases/10887/osteofibrous-dysplasia
https://rarediseases.info.nih.gov/diseases/10887/osteofibrous-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10889/hanac-syndrome
https://rarediseases.info.nih.gov/diseases/10889/hanac-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma
https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma/diagnosis
https://rarediseases.info.nih.gov/diseases/10891/gm1-gangliosidosis
https://rarediseases.info.nih.gov/diseases/10891/gm1-gangliosidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma
https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/10898/primary-acquired-pure-red-cell-aplasia
https://rarediseases.info.nih.gov/diseases/10898/primary-acquired-pure-red-cell-aplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10899/inclusion-body-myopathy-with-paget-disease-of-bone-and-frontotemporal-dementia
https://rarediseases.info.nih.gov/diseases/10899/inclusion-body-myopathy-with-paget-disease-of-bone-and-frontotemporal-dementia/diagnosis
https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia
https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer
https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/10902/neuroacanthocytosis
https://rarediseases.info.nih.gov/diseases/10902/neuroacanthocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10903/brachyolmia
https://rarediseases.info.nih.gov/diseases/10903/brachyolmia/diagnosis
https://rarediseases.info.nih.gov/diseases/10904/pityriasis-rotunda
https://rarediseases.info.nih.gov/diseases/10904/pityriasis-rotunda/diagnosis
https://rarediseases.info.nih.gov/diseases/10905/dyskeratosis-congenita
https://rarediseases.info.nih.gov/diseases/10905/dyskeratosis-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease
https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10907/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia
https://rarediseases.info.nih.gov/diseases/10907/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10909/adult-onset-foveomacular-vitelliform-dystrophy
https://rarediseases.info.nih.gov/diseases/10909/adult-onset-foveomacular-vitelliform-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/10910/medial-condensing-osteitis-of-the-clavicle
https://rarediseases.info.nih.gov/diseases/10910/medial-condensing-osteitis-of-the-clavicle/diagnosis
https://rarediseases.info.nih.gov/diseases/10911/autoimmune-pancreatitis
https://rarediseases.info.nih.gov/diseases/10911/autoimmune-pancreatitis/diagnosis
https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome
https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-femoral-head
https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-femoral-head/diagnosis
https://rarediseases.info.nih.gov/diseases/10915/x-linked-lymphoproliferative-disease
https://rarediseases.info.nih.gov/diseases/10915/x-linked-lymphoproliferative-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-disease-due-to-xiap-deficiency
https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-disease-due-to-xiap-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10917/hypomyelination-with-atrophy-of-basal-ganglia-and-cerebellum
https://rarediseases.info.nih.gov/diseases/10917/hypomyelination-with-atrophy-of-basal-ganglia-and-cerebellum/diagnosis
https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia
https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma
https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma/diagnosis
https://rarediseases.info.nih.gov/diseases/10922/49xxxyy-syndrome
https://rarediseases.info.nih.gov/diseases/10922/49xxxyy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10924/carney-triad
https://rarediseases.info.nih.gov/diseases/10924/carney-triad/diagnosis
https://rarediseases.info.nih.gov/diseases/10925/la-crosse-encephalitis
https://rarediseases.info.nih.gov/diseases/10925/la-crosse-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/10927/cryopyrin-associated-periodic-syndrome
https://rarediseases.info.nih.gov/diseases/10927/cryopyrin-associated-periodic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy
https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy/diagnosis
https://rarediseases.info.nih.gov/diseases/10929/nodular-regenerative-hyperplasia-of-the-liver
https://rarediseases.info.nih.gov/diseases/10929/nodular-regenerative-hyperplasia-of-the-liver/diagnosis
https://rarediseases.info.nih.gov/diseases/1093/progressive-familial-heart-block-type-ia
https://rarediseases.info.nih.gov/diseases/1093/progressive-familial-heart-block-type-ia/diagnosis
https://rarediseases.info.nih.gov/diseases/10934/monocytopenia-with-susceptibility-to-infections
https://rarediseases.info.nih.gov/diseases/10934/monocytopenia-with-susceptibility-to-infections/diagnosis
https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10936/17q231q232-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10936/17q231q232-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10937/lipodystrophy-congenital-generalized-type-4
https://rarediseases.info.nih.gov/diseases/10937/lipodystrophy-congenital-generalized-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/10938/microcornea-posterior-megalolenticonus-persistent-fetal-vasculature-coloboma-syndrome
https://rarediseases.info.nih.gov/diseases/10938/microcornea-posterior-megalolenticonus-persistent-fetal-vasculature-coloboma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10939/cloves-syndrome
https://rarediseases.info.nih.gov/diseases/10939/cloves-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1094/cardiac-diverticulum
https://rarediseases.info.nih.gov/diseases/1094/cardiac-diverticulum/diagnosis
https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis
https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis/diagnosis
https://rarediseases.info.nih.gov/diseases/10941/anterior-uveitis
https://rarediseases.info.nih.gov/diseases/10941/anterior-uveitis/diagnosis
https://rarediseases.info.nih.gov/diseases/10942/glaucoma-secondary-to-spherophakiaectopia-lentis-and-megalocornea
https://rarediseases.info.nih.gov/diseases/10942/glaucoma-secondary-to-spherophakiaectopia-lentis-and-megalocornea/diagnosis
https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10944/cog6-cgd
https://rarediseases.info.nih.gov/diseases/10944/cog6-cgd/diagnosis
https://rarediseases.info.nih.gov/diseases/10945/short-stature-optic-atrophy-pelger-hut-anomaly-syndrome
https://rarediseases.info.nih.gov/diseases/10945/short-stature-optic-atrophy-pelger-hut-anomaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10946/corticosteroid-sensitive-aseptic-abscess-syndrome
https://rarediseases.info.nih.gov/diseases/10946/corticosteroid-sensitive-aseptic-abscess-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome
https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy
https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy/diagnosis
https://rarediseases.info.nih.gov/diseases/10949/non-24-hour-sleep-wake-syndrome
https://rarediseases.info.nih.gov/diseases/10949/non-24-hour-sleep-wake-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma
https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma/diagnosis
https://rarediseases.info.nih.gov/diseases/10954/3-methylcrotonyl-coa-carboxylase-deficiency
https://rarediseases.info.nih.gov/diseases/10954/3-methylcrotonyl-coa-carboxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome
https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10956/hyper-ige-syndrome
https://rarediseases.info.nih.gov/diseases/10956/hyper-ige-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10957/irida-syndrome
https://rarediseases.info.nih.gov/diseases/10957/irida-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism
https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism/diagnosis
https://rarediseases.info.nih.gov/diseases/10959/familial-isolated-pituitary-adenoma
https://rarediseases.info.nih.gov/diseases/10959/familial-isolated-pituitary-adenoma/diagnosis
https://rarediseases.info.nih.gov/diseases/1096/flna-related-x-linked-myxomatous-valvular-dysplasia
https://rarediseases.info.nih.gov/diseases/1096/flna-related-x-linked-myxomatous-valvular-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome
https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease
https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/10965/fgfr2-related-bent-bone-dysplasia
https://rarediseases.info.nih.gov/diseases/10965/fgfr2-related-bent-bone-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis
https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/10967/polyarticular-onset-juvenile-idiopathic-arthritis
https://rarediseases.info.nih.gov/diseases/10967/polyarticular-onset-juvenile-idiopathic-arthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis
https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/10970/psoriasis-related-juvenile-idiopathic-arthritis
https://rarediseases.info.nih.gov/diseases/10970/psoriasis-related-juvenile-idiopathic-arthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/10972/distal-monosomy-17q
https://rarediseases.info.nih.gov/diseases/10972/distal-monosomy-17q/diagnosis
https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10975/familial-hemiplegic-migraine
https://rarediseases.info.nih.gov/diseases/10975/familial-hemiplegic-migraine/diagnosis
https://rarediseases.info.nih.gov/diseases/10977/non-syndromic-pontocerebellar-hypoplasia
https://rarediseases.info.nih.gov/diseases/10977/non-syndromic-pontocerebellar-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/10980/autoimmune-polyendocrinopathy-type-3
https://rarediseases.info.nih.gov/diseases/10980/autoimmune-polyendocrinopathy-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/10981/hereditary-diffuse-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia
https://rarediseases.info.nih.gov/diseases/10981/hereditary-diffuse-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia/diagnosis
https://rarediseases.info.nih.gov/diseases/10982/isochromosome-yp
https://rarediseases.info.nih.gov/diseases/10982/isochromosome-yp/diagnosis
https://rarediseases.info.nih.gov/diseases/10983/disseminated-superficial-actinic-porokeratosis
https://rarediseases.info.nih.gov/diseases/10983/disseminated-superficial-actinic-porokeratosis/diagnosis
https://rarediseases.info.nih.gov/diseases/10984/mendelian-susceptibility-to-mycobacterial-diseases-due-to-complete-il12rb1-deficiency
https://rarediseases.info.nih.gov/diseases/10984/mendelian-susceptibility-to-mycobacterial-diseases-due-to-complete-il12rb1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction
https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction/diagnosis
https://rarediseases.info.nih.gov/diseases/10986/granulomatous-slack-skin
https://rarediseases.info.nih.gov/diseases/10986/granulomatous-slack-skin/diagnosis
https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome
https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-lipodystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/10989/mandibular-hypoplasia-deafness-progeroid-features-lipodystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion
https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion/diagnosis
https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10992/autosomal-recessive-spastic-ataxia-optic-atrophy-dysarthria-syndrome
https://rarediseases.info.nih.gov/diseases/10992/autosomal-recessive-spastic-ataxia-optic-atrophy-dysarthria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome
https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10995/infantile-cerebral-and-cerebellar-atrophy-with-postnatal-progressive-microcephaly
https://rarediseases.info.nih.gov/diseases/10995/infantile-cerebral-and-cerebellar-atrophy-with-postnatal-progressive-microcephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/10996/distal-17p131-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10996/distal-17p131-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10997/aneurysm-osteoarthritis-syndrome
https://rarediseases.info.nih.gov/diseases/10997/aneurysm-osteoarthritis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11/alternating-hemiplegia-of-childhood
https://rarediseases.info.nih.gov/diseases/11/alternating-hemiplegia-of-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/1100/noonan-syndrome-with-multiple-lentigines
https://rarediseases.info.nih.gov/diseases/1100/noonan-syndrome-with-multiple-lentigines/diagnosis
https://rarediseases.info.nih.gov/diseases/11000/constitutional-megaloblastic-anemia-with-severe-neurologic-disease
https://rarediseases.info.nih.gov/diseases/11000/constitutional-megaloblastic-anemia-with-severe-neurologic-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis
https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis/diagnosis
https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis
https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis/diagnosis
https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome
https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome
https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma
https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma/diagnosis
https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome
https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11009/chondrodysplasia-with-joint-dislocations-gpapp-type
https://rarediseases.info.nih.gov/diseases/11009/chondrodysplasia-with-joint-dislocations-gpapp-type/diagnosis
https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin
https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin/diagnosis
https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy
https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease-syndrome
https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-1a
https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-1a/diagnosis
https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines
https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines/diagnosis
https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis
https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy
https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome
https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1119/carney-complex
https://rarediseases.info.nih.gov/diseases/1119/carney-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1a-deficiency
https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1a-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-ii-deficiency
https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-ii-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency
https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis
https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1130/idiopathic-chronic-eosinophilic-pneumonia
https://rarediseases.info.nih.gov/diseases/1130/idiopathic-chronic-eosinophilic-pneumonia/diagnosis
https://rarediseases.info.nih.gov/diseases/1133/x-linked-intellectual-disability-stocco-dos-santos-type
https://rarediseases.info.nih.gov/diseases/1133/x-linked-intellectual-disability-stocco-dos-santos-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia
https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia/diagnosis
https://rarediseases.info.nih.gov/diseases/114/x-linked-charcot-marie-tooth-disease-type-5
https://rarediseases.info.nih.gov/diseases/114/x-linked-charcot-marie-tooth-disease-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/1140/early-onset-anterior-polar-cataract
https://rarediseases.info.nih.gov/diseases/1140/early-onset-anterior-polar-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/1141/cataract-ataxia-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/1141/cataract-ataxia-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1142/congenital-cataract-hypertrophic-cardiomyopathy-mitochondrial-myopathy-syndrome
https://rarediseases.info.nih.gov/diseases/1142/congenital-cataract-hypertrophic-cardiomyopathy-mitochondrial-myopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1144/cataract-4-multiple-types
https://rarediseases.info.nih.gov/diseases/1144/cataract-4-multiple-types/diagnosis
https://rarediseases.info.nih.gov/diseases/1145/cataract-and-congenital-ichthyosis
https://rarediseases.info.nih.gov/diseases/1145/cataract-and-congenital-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1146/cataract-congenital-volkmann-type
https://rarediseases.info.nih.gov/diseases/1146/cataract-congenital-volkmann-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type
https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome
https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1159/total-early-onset-cataract
https://rarediseases.info.nih.gov/diseases/1159/total-early-onset-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/116/alpha-n-acetylgalactosaminidase-deficiency-type-1
https://rarediseases.info.nih.gov/diseases/116/alpha-n-acetylgalactosaminidase-deficiency-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma-syndrome
https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication
https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/1167/acrocardiofacial-syndrome
https://rarediseases.info.nih.gov/diseases/1167/acrocardiofacial-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/117/schinzel-giedion-syndrome
https://rarediseases.info.nih.gov/diseases/117/schinzel-giedion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome
https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma
https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/1188/cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome
https://rarediseases.info.nih.gov/diseases/1188/cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1189/cerebellar-ataxia-ectodermal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/1189/cerebellar-ataxia-ectodermal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11890/peroxisome-biogenesis-disorder
https://rarediseases.info.nih.gov/diseases/11890/peroxisome-biogenesis-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/11892/spinal-arteriovenous-metameric-syndrome
https://rarediseases.info.nih.gov/diseases/11892/spinal-arteriovenous-metameric-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11893/mandibuloacral-dysplasia
https://rarediseases.info.nih.gov/diseases/11893/mandibuloacral-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis
https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration
https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/11897/progressive-cone-dystrophy
https://rarediseases.info.nih.gov/diseases/11897/progressive-cone-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus
https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus/diagnosis
https://rarediseases.info.nih.gov/diseases/11899/neurodegeneration-with-brain-iron-accumulation
https://rarediseases.info.nih.gov/diseases/11899/neurodegeneration-with-brain-iron-accumulation/diagnosis
https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis
https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome
https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11903/immunodeficiency-due-to-selective-anti-polysaccharide-antibody-deficiency
https://rarediseases.info.nih.gov/diseases/11903/immunodeficiency-due-to-selective-anti-polysaccharide-antibody-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation
https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy
https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis
https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis
https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis/diagnosis
https://rarediseases.info.nih.gov/diseases/11909/engraftment-syndrome
https://rarediseases.info.nih.gov/diseases/11909/engraftment-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1191/autosomal-recessive-progressive-external-ophthalmoplegia
https://rarediseases.info.nih.gov/diseases/1191/autosomal-recessive-progressive-external-ophthalmoplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome
https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome
https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy
https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/11918/autosomal-dominant-nocturnal-frontal-lobe-epilepsy
https://rarediseases.info.nih.gov/diseases/11918/autosomal-dominant-nocturnal-frontal-lobe-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder
https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder/diagnosis
https://rarediseases.info.nih.gov/diseases/11925/x-linked-centronuclear-myopathy
https://rarediseases.info.nih.gov/diseases/11925/x-linked-centronuclear-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/11927/hereditary-sensory-neuropathy-deafness-dementia-syndrome
https://rarediseases.info.nih.gov/diseases/11927/hereditary-sensory-neuropathy-deafness-dementia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration-syndrome
https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11962/familial-partial-lipodystrophy
https://rarediseases.info.nih.gov/diseases/11962/familial-partial-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome
https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11970/clostridium-perfringens-infection
https://rarediseases.info.nih.gov/diseases/11970/clostridium-perfringens-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/11971/renal-nutcracker-syndrome
https://rarediseases.info.nih.gov/diseases/11971/renal-nutcracker-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11972/autosomal-dominant-optic-atrophy
https://rarediseases.info.nih.gov/diseases/11972/autosomal-dominant-optic-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/11974/3q29-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/11974/3q29-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11975/15q133-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/11975/15q133-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11979/autoimmune-encephalitis
https://rarediseases.info.nih.gov/diseases/11979/autoimmune-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/11980/hypomyelination-congenital-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/11980/hypomyelination-congenital-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11982/primary-membranoproliferative-glomerulonephritis
https://rarediseases.info.nih.gov/diseases/11982/primary-membranoproliferative-glomerulonephritis/diagnosis
https://rarediseases.info.nih.gov/diseases/11983/activated-pi3k-delta-syndrome
https://rarediseases.info.nih.gov/diseases/11983/activated-pi3k-delta-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11984/hereditary-pheochromocytoma-paraganglioma
https://rarediseases.info.nih.gov/diseases/11984/hereditary-pheochromocytoma-paraganglioma/diagnosis
https://rarediseases.info.nih.gov/diseases/11985/48xyyy-syndrome
https://rarediseases.info.nih.gov/diseases/11985/48xyyy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/11989/pythiosis
https://rarediseases.info.nih.gov/diseases/11989/pythiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1199/autosomal-recessive-cerebelloparenchymal-disorder-type-3
https://rarediseases.info.nih.gov/diseases/1199/autosomal-recessive-cerebelloparenchymal-disorder-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/11992/adult-onset-immunodeficiency-with-anti-interferon-gamma-autoantibodies
https://rarediseases.info.nih.gov/diseases/11992/adult-onset-immunodeficiency-with-anti-interferon-gamma-autoantibodies/diagnosis
https://rarediseases.info.nih.gov/diseases/12/hypersensitivity-pneumonitis
https://rarediseases.info.nih.gov/diseases/12/hypersensitivity-pneumonitis/diagnosis
https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever
https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/1200/hydrocephaly-cerebellar-agenesis-syndrome
https://rarediseases.info.nih.gov/diseases/1200/hydrocephaly-cerebellar-agenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12003/mesangioproliferative-glomerulopathy
https://rarediseases.info.nih.gov/diseases/12003/mesangioproliferative-glomerulopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis
https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/12010/isolated-biliary-atresia
https://rarediseases.info.nih.gov/diseases/12010/isolated-biliary-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/12011/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-e
https://rarediseases.info.nih.gov/diseases/12011/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-e/diagnosis
https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma
https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system
https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system/diagnosis
https://rarediseases.info.nih.gov/diseases/12017/pineal-germ-cell-tumor
https://rarediseases.info.nih.gov/diseases/12017/pineal-germ-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/12027/differentiated-thyroid-carcinoma
https://rarediseases.info.nih.gov/diseases/12027/differentiated-thyroid-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/12032/levocardia
https://rarediseases.info.nih.gov/diseases/12032/levocardia/diagnosis
https://rarediseases.info.nih.gov/diseases/12033/nemaline-myopathy
https://rarediseases.info.nih.gov/diseases/12033/nemaline-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy
https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12041/melanoma-associated-retinopathy
https://rarediseases.info.nih.gov/diseases/12041/melanoma-associated-retinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy
https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12059/gm3-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/12059/gm3-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts
https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts/diagnosis
https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome
https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum
https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum/diagnosis
https://rarediseases.info.nih.gov/diseases/12076/7q1123-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/12076/7q1123-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12085/isolated-microphthalmia-anophthalmia-coloboma
https://rarediseases.info.nih.gov/diseases/12085/isolated-microphthalmia-anophthalmia-coloboma/diagnosis
https://rarediseases.info.nih.gov/diseases/12088/hemoglobin-se-disease
https://rarediseases.info.nih.gov/diseases/12088/hemoglobin-se-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12089/hemihypertrophy
https://rarediseases.info.nih.gov/diseases/12089/hemihypertrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency
https://rarediseases.info.nih.gov/diseases/12097/lysosomal-acid-lipase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12099/cholesteryl-ester-storage-disease
https://rarediseases.info.nih.gov/diseases/12099/cholesteryl-ester-storage-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/121/focal-facial-dermal-dysplasia-type-iii
https://rarediseases.info.nih.gov/diseases/121/focal-facial-dermal-dysplasia-type-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/1210/cerebrofaciothoracic-dysplasia
https://rarediseases.info.nih.gov/diseases/1210/cerebrofaciothoracic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability
https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/12109/trichothiodystrophy
https://rarediseases.info.nih.gov/diseases/12109/trichothiodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly
https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/12123/congenital-absence-of-upper-arm-and-forearm-with-hand-present
https://rarediseases.info.nih.gov/diseases/12123/congenital-absence-of-upper-arm-and-forearm-with-hand-present/diagnosis
https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome
https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma
https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/12136/c1q-nephropathy
https://rarediseases.info.nih.gov/diseases/12136/c1q-nephropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12144/dopa-responsive-dystonia
https://rarediseases.info.nih.gov/diseases/12144/dopa-responsive-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6
https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6/diagnosis
https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy
https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome
https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12166/5q143-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/12166/5q143-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations
https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukoencephalopathy-and-systemic-manifestations/diagnosis
https://rarediseases.info.nih.gov/diseases/12173/cdkl5-deficiency-disorder
https://rarediseases.info.nih.gov/diseases/12173/cdkl5-deficiency-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/12174/spondylocostal-dysostosis
https://rarediseases.info.nih.gov/diseases/12174/spondylocostal-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1218/cln10-disease
https://rarediseases.info.nih.gov/diseases/1218/cln10-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis
https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis/diagnosis
https://rarediseases.info.nih.gov/diseases/1219/cln1-disease
https://rarediseases.info.nih.gov/diseases/1219/cln1-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12199/early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome
https://rarediseases.info.nih.gov/diseases/12199/early-onset-myopathy-areflexia-respiratory-distress-dysphagia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/122/singleton-merten-dysplasia
https://rarediseases.info.nih.gov/diseases/122/singleton-merten-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/1220/cln7-disease
https://rarediseases.info.nih.gov/diseases/1220/cln7-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12219/15q24-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/12219/15q24-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1222/cln4b-disease
https://rarediseases.info.nih.gov/diseases/1222/cln4b-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1223/cln5-disease
https://rarediseases.info.nih.gov/diseases/1223/cln5-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12232/childhood-onset-autosomal-recessive-slowly-progressive-spinocerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/12232/childhood-onset-autosomal-recessive-slowly-progressive-spinocerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/12234/autosomal-recessive-ataxia-beauce-type
https://rarediseases.info.nih.gov/diseases/12234/autosomal-recessive-ataxia-beauce-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1224/cln6-disease
https://rarediseases.info.nih.gov/diseases/1224/cln6-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency
https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12244/new-onset-refractory-status-epilepticus
https://rarediseases.info.nih.gov/diseases/12244/new-onset-refractory-status-epilepticus/diagnosis
https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis
https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis/diagnosis
https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-b-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-b-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12267/congenital-insensitivity-to-pain-anosmia-neuropathic-arthropathy
https://rarediseases.info.nih.gov/diseases/12267/congenital-insensitivity-to-pain-anosmia-neuropathic-arthropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism
https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/12281/chronic-atrial-and-intestinal-dysrhythmia-syndrome
https://rarediseases.info.nih.gov/diseases/12281/chronic-atrial-and-intestinal-dysrhythmia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12291/lissencephaly
https://rarediseases.info.nih.gov/diseases/12291/lissencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/12299/bradyopsia
https://rarediseases.info.nih.gov/diseases/12299/bradyopsia/diagnosis
https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease
https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12301/thomsen-and-becker-disease
https://rarediseases.info.nih.gov/diseases/12301/thomsen-and-becker-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12308/celiac-artery-compression-syndrome
https://rarediseases.info.nih.gov/diseases/12308/celiac-artery-compression-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency
https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12312/image-syndrome
https://rarediseases.info.nih.gov/diseases/12312/image-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12314/autoimmune-enteropathy-and-endocrinopathy-susceptibility-to-chronic-infections-syndrome
https://rarediseases.info.nih.gov/diseases/12314/autoimmune-enteropathy-and-endocrinopathy-susceptibility-to-chronic-infections-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12315/alacrimia-choreoathetosis-liver-dysfunction-syndrome
https://rarediseases.info.nih.gov/diseases/12315/alacrimia-choreoathetosis-liver-dysfunction-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency
https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12328/hereditary-sensory-and-autonomic-neuropathy-type-5
https://rarediseases.info.nih.gov/diseases/12328/hereditary-sensory-and-autonomic-neuropathy-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/1233/chand-syndrome
https://rarediseases.info.nih.gov/diseases/1233/chand-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12331/intestinal-lymphangiectasia
https://rarediseases.info.nih.gov/diseases/12331/intestinal-lymphangiectasia/diagnosis
https://rarediseases.info.nih.gov/diseases/12335/carcinosarcoma-of-the-corpus-uteri
https://rarediseases.info.nih.gov/diseases/12335/carcinosarcoma-of-the-corpus-uteri/diagnosis
https://rarediseases.info.nih.gov/diseases/12338/transcobalamin-deficiency
https://rarediseases.info.nih.gov/diseases/12338/transcobalamin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1234/hypogonadotropic-hypogonadism-retinitis-pigmentosa-syndrome
https://rarediseases.info.nih.gov/diseases/1234/hypogonadotropic-hypogonadism-retinitis-pigmentosa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12347/dihydropyrimidinuria
https://rarediseases.info.nih.gov/diseases/12347/dihydropyrimidinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/12348/cog5-cdg
https://rarediseases.info.nih.gov/diseases/12348/cog5-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/1235/multifocal-atrial-tachycardia
https://rarediseases.info.nih.gov/diseases/1235/multifocal-atrial-tachycardia/diagnosis
https://rarediseases.info.nih.gov/diseases/12353/autosomal-recessive-axonal-neuropathy-with-neuromyotonia
https://rarediseases.info.nih.gov/diseases/12353/autosomal-recessive-axonal-neuropathy-with-neuromyotonia/diagnosis
https://rarediseases.info.nih.gov/diseases/12354/distal-renal-tubular-acidosis-with-anemia
https://rarediseases.info.nih.gov/diseases/12354/distal-renal-tubular-acidosis-with-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/12356/loeys-dietz-syndrome-5
https://rarediseases.info.nih.gov/diseases/12356/loeys-dietz-syndrome-5/diagnosis
https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy
https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy/diagnosis
https://rarediseases.info.nih.gov/diseases/12360/microcytic-anemia-with-liver-iron-overload
https://rarediseases.info.nih.gov/diseases/12360/microcytic-anemia-with-liver-iron-overload/diagnosis
https://rarediseases.info.nih.gov/diseases/12361/eosinophil-peroxidase-deficiency
https://rarediseases.info.nih.gov/diseases/12361/eosinophil-peroxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12362/familial-hyperaldosteronism-type-iii
https://rarediseases.info.nih.gov/diseases/12362/familial-hyperaldosteronism-type-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-type-1922
https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-type-1922/diagnosis
https://rarediseases.info.nih.gov/diseases/12366/spinocerebellar-ataxia-type-35
https://rarediseases.info.nih.gov/diseases/12366/spinocerebellar-ataxia-type-35/diagnosis
https://rarediseases.info.nih.gov/diseases/12367/spinocerebellar-ataxia-type-36
https://rarediseases.info.nih.gov/diseases/12367/spinocerebellar-ataxia-type-36/diagnosis
https://rarediseases.info.nih.gov/diseases/12368/spinocerebellar-ataxia-type-37
https://rarediseases.info.nih.gov/diseases/12368/spinocerebellar-ataxia-type-37/diagnosis
https://rarediseases.info.nih.gov/diseases/12369/spinocerebellar-ataxia-type-38
https://rarediseases.info.nih.gov/diseases/12369/spinocerebellar-ataxia-type-38/diagnosis
https://rarediseases.info.nih.gov/diseases/1237/char-syndrome
https://rarediseases.info.nih.gov/diseases/1237/char-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12371/spinocerebellar-ataxia-type-40
https://rarediseases.info.nih.gov/diseases/12371/spinocerebellar-ataxia-type-40/diagnosis
https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-narcolepsy-syndrome
https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-narcolepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12375/idiopathic-cd4-lymphocytopenia
https://rarediseases.info.nih.gov/diseases/12375/idiopathic-cd4-lymphocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/12382/sudden-infant-death-dysgenesis-of-the-testes-syndrome
https://rarediseases.info.nih.gov/diseases/12382/sudden-infant-death-dysgenesis-of-the-testes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12383/vasculitis-due-to-ada2-deficiency
https://rarediseases.info.nih.gov/diseases/12383/vasculitis-due-to-ada2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12384/hypopigmentation-punctate-palmoplantar-keratoderma-syndrome
https://rarediseases.info.nih.gov/diseases/12384/hypopigmentation-punctate-palmoplantar-keratoderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12385/male-infertility-due-to-large-headed-multiflagellar-polyploid-spermatozoa
https://rarediseases.info.nih.gov/diseases/12385/male-infertility-due-to-large-headed-multiflagellar-polyploid-spermatozoa/diagnosis
https://rarediseases.info.nih.gov/diseases/12388/proximal-16p112-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/12388/proximal-16p112-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome
https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12391/developmental-and-epileptic-encephalopathy-26
https://rarediseases.info.nih.gov/diseases/12391/developmental-and-epileptic-encephalopathy-26/diagnosis
https://rarediseases.info.nih.gov/diseases/12393/dk1-cdg
https://rarediseases.info.nih.gov/diseases/12393/dk1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12394/rft1-cdg
https://rarediseases.info.nih.gov/diseases/12394/rft1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12395/dpm3-cdg
https://rarediseases.info.nih.gov/diseases/12395/dpm3-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12396/alg11-cdg
https://rarediseases.info.nih.gov/diseases/12396/alg11-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12397/srd5a3-cdg
https://rarediseases.info.nih.gov/diseases/12397/srd5a3-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12398/ddost-cdg
https://rarediseases.info.nih.gov/diseases/12398/ddost-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/1240/x-linked-charcot-marie-tooth-disease-type-4
https://rarediseases.info.nih.gov/diseases/1240/x-linked-charcot-marie-tooth-disease-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/12401/alg13-cdg
https://rarediseases.info.nih.gov/diseases/12401/alg13-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg
https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12404/alacrima-achalasia-and-impaired-intellectual-development-syndrome
https://rarediseases.info.nih.gov/diseases/12404/alacrima-achalasia-and-impaired-intellectual-development-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12405/ssr4-cdg
https://rarediseases.info.nih.gov/diseases/12405/ssr4-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12409/slc35a1-cdg
https://rarediseases.info.nih.gov/diseases/12409/slc35a1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12411/cog8-cdg
https://rarediseases.info.nih.gov/diseases/12411/cog8-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12412/cog4-cdg
https://rarediseases.info.nih.gov/diseases/12412/cog4-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12413/tmem165-cdg
https://rarediseases.info.nih.gov/diseases/12413/tmem165-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12416/congenital-muscular-dystrophy-with-intellectual-disability-and-severe-epilepsy
https://rarediseases.info.nih.gov/diseases/12416/congenital-muscular-dystrophy-with-intellectual-disability-and-severe-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg
https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/12426/congenital-intrauterine-infection-like-syndrome
https://rarediseases.info.nih.gov/diseases/12426/congenital-intrauterine-infection-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12428/cutaneous-collagenous-vasculopathy
https://rarediseases.info.nih.gov/diseases/12428/cutaneous-collagenous-vasculopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12429/autosomal-dominant-charcot-marie-tooth-disease-type-2n
https://rarediseases.info.nih.gov/diseases/12429/autosomal-dominant-charcot-marie-tooth-disease-type-2n/diagnosis
https://rarediseases.info.nih.gov/diseases/1243/x-linked-charcot-marie-tooth-disease-type-2
https://rarediseases.info.nih.gov/diseases/1243/x-linked-charcot-marie-tooth-disease-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/12431/autosomal-dominant-charcot-marie-tooth-disease-type-2
https://rarediseases.info.nih.gov/diseases/12431/autosomal-dominant-charcot-marie-tooth-disease-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/12432/autosomal-dominant-charcot-marie-tooth-disease-type-2l
https://rarediseases.info.nih.gov/diseases/12432/autosomal-dominant-charcot-marie-tooth-disease-type-2l/diagnosis
https://rarediseases.info.nih.gov/diseases/12433/charcot-marie-tooth-disease-type-1
https://rarediseases.info.nih.gov/diseases/12433/charcot-marie-tooth-disease-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/12434/autosomal-dominant-charcot-marie-tooth-disease-type-2o
https://rarediseases.info.nih.gov/diseases/12434/autosomal-dominant-charcot-marie-tooth-disease-type-2o/diagnosis
https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p
https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p/diagnosis
https://rarediseases.info.nih.gov/diseases/12436/autosomal-dominant-intermediate-charcot-marie-tooth-disease
https://rarediseases.info.nih.gov/diseases/12436/autosomal-dominant-intermediate-charcot-marie-tooth-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12437/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-a
https://rarediseases.info.nih.gov/diseases/12437/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-a/diagnosis
https://rarediseases.info.nih.gov/diseases/12438/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-b
https://rarediseases.info.nih.gov/diseases/12438/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-b/diagnosis
https://rarediseases.info.nih.gov/diseases/12439/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-c
https://rarediseases.info.nih.gov/diseases/12439/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-c/diagnosis
https://rarediseases.info.nih.gov/diseases/1244/x-linked-charcot-marie-tooth-disease-type-3
https://rarediseases.info.nih.gov/diseases/1244/x-linked-charcot-marie-tooth-disease-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/12440/charcot-marie-tooth-disease-type-4
https://rarediseases.info.nih.gov/diseases/12440/charcot-marie-tooth-disease-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f
https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f/diagnosis
https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h
https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h/diagnosis
https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j
https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j/diagnosis
https://rarediseases.info.nih.gov/diseases/12444/x-linked-charcot-marie-tooth-disease
https://rarediseases.info.nih.gov/diseases/12444/x-linked-charcot-marie-tooth-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12445/x-linked-charcot-marie-tooth-disease-type-6
https://rarediseases.info.nih.gov/diseases/12445/x-linked-charcot-marie-tooth-disease-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/12446/autosomal-dominant-charcot-marie-tooth-disease-type-2q
https://rarediseases.info.nih.gov/diseases/12446/autosomal-dominant-charcot-marie-tooth-disease-type-2q/diagnosis
https://rarediseases.info.nih.gov/diseases/12447/autosomal-dominant-charcot-marie-tooth-disease-type-2-with-giant-axons
https://rarediseases.info.nih.gov/diseases/12447/autosomal-dominant-charcot-marie-tooth-disease-type-2-with-giant-axons/diagnosis
https://rarediseases.info.nih.gov/diseases/12448/autosomal-recessive-charcot-marie-tooth-disease-with-hoarseness
https://rarediseases.info.nih.gov/diseases/12448/autosomal-recessive-charcot-marie-tooth-disease-with-hoarseness/diagnosis
https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a
https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a/diagnosis
https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r
https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r/diagnosis
https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease
https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12453/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-a
https://rarediseases.info.nih.gov/diseases/12453/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-a/diagnosis
https://rarediseases.info.nih.gov/diseases/12454/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-b
https://rarediseases.info.nih.gov/diseases/12454/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-b/diagnosis
https://rarediseases.info.nih.gov/diseases/12458/sickle-cell-hemoglobin-d-disease-syndrome
https://rarediseases.info.nih.gov/diseases/12458/sickle-cell-hemoglobin-d-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1246/charcot-marie-tooth-disease-type-1b
https://rarediseases.info.nih.gov/diseases/1246/charcot-marie-tooth-disease-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-3
https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c
https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c/diagnosis
https://rarediseases.info.nih.gov/diseases/12471/leukoencephalopathy-dystonia-motor-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/12471/leukoencephalopathy-dystonia-motor-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12472/cadds
https://rarediseases.info.nih.gov/diseases/12472/cadds/diagnosis
https://rarediseases.info.nih.gov/diseases/12474/periodontal-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/12474/periodontal-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12477/disorders-with-deficiency-of-a-single-peroxisomal-enzyme
https://rarediseases.info.nih.gov/diseases/12477/disorders-with-deficiency-of-a-single-peroxisomal-enzyme/diagnosis
https://rarediseases.info.nih.gov/diseases/12478/bleeding-disorder-due-to-p2y12-defect
https://rarediseases.info.nih.gov/diseases/12478/bleeding-disorder-due-to-p2y12-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/1248/autosomal-dominant-charcot-marie-tooth-disease-type-2a1
https://rarediseases.info.nih.gov/diseases/1248/autosomal-dominant-charcot-marie-tooth-disease-type-2a1/diagnosis
https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21
https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21/diagnosis
https://rarediseases.info.nih.gov/diseases/12483/cor-triatriatum-dexter
https://rarediseases.info.nih.gov/diseases/12483/cor-triatriatum-dexter/diagnosis
https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister
https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister/diagnosis
https://rarediseases.info.nih.gov/diseases/12486/corpus-callosum-agenesis-intellectual-disability-coloboma-micrognathia-syndrome
https://rarediseases.info.nih.gov/diseases/12486/corpus-callosum-agenesis-intellectual-disability-coloboma-micrognathia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12487/intellectual-disability-hypoplastic-corpus-callosum-preauricular-tag-syndrome
https://rarediseases.info.nih.gov/diseases/12487/intellectual-disability-hypoplastic-corpus-callosum-preauricular-tag-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia
https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia/diagnosis
https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome
https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/125/acrokeratoelastoidosis-of-costa
https://rarediseases.info.nih.gov/diseases/125/acrokeratoelastoidosis-of-costa/diagnosis
https://rarediseases.info.nih.gov/diseases/1250/autosomal-dominant-charcot-marie-tooth-disease-type-2c
https://rarediseases.info.nih.gov/diseases/1250/autosomal-dominant-charcot-marie-tooth-disease-type-2c/diagnosis
https://rarediseases.info.nih.gov/diseases/12501/foxp1-syndrome
https://rarediseases.info.nih.gov/diseases/12501/foxp1-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12502/male-infertility-due-to-globozoospermia
https://rarediseases.info.nih.gov/diseases/12502/male-infertility-due-to-globozoospermia/diagnosis
https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency
https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1251/autosomal-dominant-charcot-marie-tooth-disease-type-2d
https://rarediseases.info.nih.gov/diseases/1251/autosomal-dominant-charcot-marie-tooth-disease-type-2d/diagnosis
https://rarediseases.info.nih.gov/diseases/12510/gangliosidosis
https://rarediseases.info.nih.gov/diseases/12510/gangliosidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a
https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a/diagnosis
https://rarediseases.info.nih.gov/diseases/12521/igg4-related-disease
https://rarediseases.info.nih.gov/diseases/12521/igg4-related-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12524/l1-syndrome
https://rarediseases.info.nih.gov/diseases/12524/l1-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12528/dnajb6-related-limb-girdle-muscular-dystrophy-d1
https://rarediseases.info.nih.gov/diseases/12528/dnajb6-related-limb-girdle-muscular-dystrophy-d1/diagnosis
https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1
https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1/diagnosis
https://rarediseases.info.nih.gov/diseases/12530/tnp03-related-limb-girdle-muscular-dystrophy-d2
https://rarediseases.info.nih.gov/diseases/12530/tnp03-related-limb-girdle-muscular-dystrophy-d2/diagnosis
https://rarediseases.info.nih.gov/diseases/12531/hnrnpdl-related-limb-girdle-muscular-dystrophy-d3
https://rarediseases.info.nih.gov/diseases/12531/hnrnpdl-related-limb-girdle-muscular-dystrophy-d3/diagnosis
https://rarediseases.info.nih.gov/diseases/12532/autosomal-dominant-limb-girdle-muscular-dystrophy-type-1h
https://rarediseases.info.nih.gov/diseases/12532/autosomal-dominant-limb-girdle-muscular-dystrophy-type-1h/diagnosis
https://rarediseases.info.nih.gov/diseases/12533/fkrp-related-limb-girdle-muscular-dystrophy-r9
https://rarediseases.info.nih.gov/diseases/12533/fkrp-related-limb-girdle-muscular-dystrophy-r9/diagnosis
https://rarediseases.info.nih.gov/diseases/12534/titin-related-limb-girdle-muscular-dystrophy-r10
https://rarediseases.info.nih.gov/diseases/12534/titin-related-limb-girdle-muscular-dystrophy-r10/diagnosis
https://rarediseases.info.nih.gov/diseases/12535/pomt1-related-limb-girdle-muscular-dystrophy-r11
https://rarediseases.info.nih.gov/diseases/12535/pomt1-related-limb-girdle-muscular-dystrophy-r11/diagnosis
https://rarediseases.info.nih.gov/diseases/12536/anoctamin-5-related-limb-girdle-muscular-dystrophy-r12
https://rarediseases.info.nih.gov/diseases/12536/anoctamin-5-related-limb-girdle-muscular-dystrophy-r12/diagnosis
https://rarediseases.info.nih.gov/diseases/12538/fukutin-related-limb-girdle-muscular-dystrophy-r13
https://rarediseases.info.nih.gov/diseases/12538/fukutin-related-limb-girdle-muscular-dystrophy-r13/diagnosis
https://rarediseases.info.nih.gov/diseases/12539/pomt2-related-limb-girdle-muscular-dystrophy-r14
https://rarediseases.info.nih.gov/diseases/12539/pomt2-related-limb-girdle-muscular-dystrophy-r14/diagnosis
https://rarediseases.info.nih.gov/diseases/12540/pomgnt1-related-limb-girdle-muscular-dystrophy-r15
https://rarediseases.info.nih.gov/diseases/12540/pomgnt1-related-limb-girdle-muscular-dystrophy-r15/diagnosis
https://rarediseases.info.nih.gov/diseases/12541/alpha-dystroglycan-related-limb-girdle-muscular-dystrophy-r16
https://rarediseases.info.nih.gov/diseases/12541/alpha-dystroglycan-related-limb-girdle-muscular-dystrophy-r16/diagnosis
https://rarediseases.info.nih.gov/diseases/12542/plectin-related-limb-girdle-muscular-dystrophy-r17
https://rarediseases.info.nih.gov/diseases/12542/plectin-related-limb-girdle-muscular-dystrophy-r17/diagnosis
https://rarediseases.info.nih.gov/diseases/12543/trappc11-related-limb-girdle-muscular-dystrophy-r18
https://rarediseases.info.nih.gov/diseases/12543/trappc11-related-limb-girdle-muscular-dystrophy-r18/diagnosis
https://rarediseases.info.nih.gov/diseases/12544/gmppb-related-limb-girdle-muscular-dystrophy-r19
https://rarediseases.info.nih.gov/diseases/12544/gmppb-related-limb-girdle-muscular-dystrophy-r19/diagnosis
https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency
https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12550/isolated-congenital-adermatoglyphia
https://rarediseases.info.nih.gov/diseases/12550/isolated-congenital-adermatoglyphia/diagnosis
https://rarediseases.info.nih.gov/diseases/12551/familial-congenital-mirror-movements
https://rarediseases.info.nih.gov/diseases/12551/familial-congenital-mirror-movements/diagnosis
https://rarediseases.info.nih.gov/diseases/12556/non-acquired-isolated-growth-hormone-deficiency
https://rarediseases.info.nih.gov/diseases/12556/non-acquired-isolated-growth-hormone-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12558/intellectual-developmental-disorder-autosomal-dominant-5
https://rarediseases.info.nih.gov/diseases/12558/intellectual-developmental-disorder-autosomal-dominant-5/diagnosis
https://rarediseases.info.nih.gov/diseases/12559/hurler-syndrome
https://rarediseases.info.nih.gov/diseases/12559/hurler-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12560/hurler-scheie-syndrome
https://rarediseases.info.nih.gov/diseases/12560/hurler-scheie-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome
https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12562/mucopolysaccharidosis-type-4
https://rarediseases.info.nih.gov/diseases/12562/mucopolysaccharidosis-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/12568/adult-onset-dystonia-parkinsonism
https://rarediseases.info.nih.gov/diseases/12568/adult-onset-dystonia-parkinsonism/diagnosis
https://rarediseases.info.nih.gov/diseases/12569/mitochondrial-membrane-protein-associated-neurodegeneration
https://rarediseases.info.nih.gov/diseases/12569/mitochondrial-membrane-protein-associated-neurodegeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/12570/beta-propeller-protein-associated-neurodegeneration
https://rarediseases.info.nih.gov/diseases/12570/beta-propeller-protein-associated-neurodegeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/12571/coasy-protein-associated-neurodegeneration
https://rarediseases.info.nih.gov/diseases/12571/coasy-protein-associated-neurodegeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/1258/x-linked-charcot-marie-tooth-disease-type-1
https://rarediseases.info.nih.gov/diseases/1258/x-linked-charcot-marie-tooth-disease-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation
https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/12586/congenital-muscular-dystrophy-type-1b
https://rarediseases.info.nih.gov/diseases/12586/congenital-muscular-dystrophy-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/12587/congenital-muscular-dystrophy-with-integrin-alpha-7-deficiency
https://rarediseases.info.nih.gov/diseases/12587/congenital-muscular-dystrophy-with-integrin-alpha-7-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12590/congenital-fibrosis-of-extraocular-muscles
https://rarediseases.info.nih.gov/diseases/12590/congenital-fibrosis-of-extraocular-muscles/diagnosis
https://rarediseases.info.nih.gov/diseases/12591/hereditary-myopathy-with-early-respiratory-failure
https://rarediseases.info.nih.gov/diseases/12591/hereditary-myopathy-with-early-respiratory-failure/diagnosis
https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy
https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12598/familial-partial-lipodystrophy-kbberling-type
https://rarediseases.info.nih.gov/diseases/12598/familial-partial-lipodystrophy-kbberling-type/diagnosis
https://rarediseases.info.nih.gov/diseases/12599/akt2-related-familial-partial-lipodystrophy
https://rarediseases.info.nih.gov/diseases/12599/akt2-related-familial-partial-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/12600/pparg-related-familial-partial-lipodystrophy
https://rarediseases.info.nih.gov/diseases/12600/pparg-related-familial-partial-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/12601/plin1-related-familial-partial-lipodystrophy
https://rarediseases.info.nih.gov/diseases/12601/plin1-related-familial-partial-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy
https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/12604/lipodystrophy-due-to-peptidic-growth-factors-deficiency
https://rarediseases.info.nih.gov/diseases/12604/lipodystrophy-due-to-peptidic-growth-factors-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome
https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12613/cardiac-valvular-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/12613/cardiac-valvular-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia
https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia/diagnosis
https://rarediseases.info.nih.gov/diseases/12631/stapes-ankylosis-with-broad-thumbs-and-toes
https://rarediseases.info.nih.gov/diseases/12631/stapes-ankylosis-with-broad-thumbs-and-toes/diagnosis
https://rarediseases.info.nih.gov/diseases/12632/multiple-mitochondrial-dysfunctions-syndrome
https://rarediseases.info.nih.gov/diseases/12632/multiple-mitochondrial-dysfunctions-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome
https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12638/bacterial-susceptibility-due-to-tlr-signaling-pathway-deficiency
https://rarediseases.info.nih.gov/diseases/12638/bacterial-susceptibility-due-to-tlr-signaling-pathway-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome
https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-alopecia-genital-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-alopecia-genital-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12642/frontorhiny
https://rarediseases.info.nih.gov/diseases/12642/frontorhiny/diagnosis
https://rarediseases.info.nih.gov/diseases/12643/lethal-congenital-contracture-syndrome
https://rarediseases.info.nih.gov/diseases/12643/lethal-congenital-contracture-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4
https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4/diagnosis
https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea
https://rarediseases.info.nih.gov/diseases/12648/isolated-congenital-megalocornea/diagnosis
https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae
https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae/diagnosis
https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis
https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-high-lactate-syndrome
https://rarediseases.info.nih.gov/diseases/12652/leukoencephalopathy-with-brain-stem-and-spinal-cord-involvement-high-lactate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency
https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12656/castleman-disease
https://rarediseases.info.nih.gov/diseases/12656/castleman-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency
https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12665/classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
https://rarediseases.info.nih.gov/diseases/12665/classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12669/x-linked-intellectual-disability-najm-type
https://rarediseases.info.nih.gov/diseases/12669/x-linked-intellectual-disability-najm-type/diagnosis
https://rarediseases.info.nih.gov/diseases/12671/pernicious-anemia
https://rarediseases.info.nih.gov/diseases/12671/pernicious-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus
https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus/diagnosis
https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus
https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus/diagnosis
https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus
https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus/diagnosis
https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus
https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus/diagnosis
https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides
https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides/diagnosis
https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency
https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12679/lipoic-acid-biosynthesis-defect
https://rarediseases.info.nih.gov/diseases/12679/lipoic-acid-biosynthesis-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/12680/lipoyl-transferase-1-deficiency
https://rarediseases.info.nih.gov/diseases/12680/lipoyl-transferase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12681/childhood-onset-spasticity-with-hyperglycinemia
https://rarediseases.info.nih.gov/diseases/12681/childhood-onset-spasticity-with-hyperglycinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis
https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis/diagnosis
https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome
https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12686/diffuse-cutaneous-mastocytosis
https://rarediseases.info.nih.gov/diseases/12686/diffuse-cutaneous-mastocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/12687/cutaneous-mastocytoma
https://rarediseases.info.nih.gov/diseases/12687/cutaneous-mastocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/12688/hereditary-sensory-and-autonomic-neuropathy
https://rarediseases.info.nih.gov/diseases/12688/hereditary-sensory-and-autonomic-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12698/perineurioma
https://rarediseases.info.nih.gov/diseases/12698/perineurioma/diagnosis
https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome
https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12703/osteochondritis-dissecans
https://rarediseases.info.nih.gov/diseases/12703/osteochondritis-dissecans/diagnosis
https://rarediseases.info.nih.gov/diseases/12705/collagen-vi-related-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/12705/collagen-vi-related-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/12706/painful-legs-and-moving-toes-syndrome
https://rarediseases.info.nih.gov/diseases/12706/painful-legs-and-moving-toes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy
https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy/diagnosis
https://rarediseases.info.nih.gov/diseases/12715/x-linked-intellectual-disability-hypotonia-movement-disorder-syndrome
https://rarediseases.info.nih.gov/diseases/12715/x-linked-intellectual-disability-hypotonia-movement-disorder-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12716/elastoderma
https://rarediseases.info.nih.gov/diseases/12716/elastoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/12718/autosomal-recessive-centronuclear-myopathy
https://rarediseases.info.nih.gov/diseases/12718/autosomal-recessive-centronuclear-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy
https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy
https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12722/familial-dyskinesia-and-facial-myokymia
https://rarediseases.info.nih.gov/diseases/12722/familial-dyskinesia-and-facial-myokymia/diagnosis
https://rarediseases.info.nih.gov/diseases/12724/periventricular-nodular-heterotopia
https://rarediseases.info.nih.gov/diseases/12724/periventricular-nodular-heterotopia/diagnosis
https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness
https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness/diagnosis
https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7
https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones
https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones/diagnosis
https://rarediseases.info.nih.gov/diseases/1274/pierre-robin-syndrome-faciodigital-anomaly-syndrome
https://rarediseases.info.nih.gov/diseases/1274/pierre-robin-syndrome-faciodigital-anomaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12740/non-amyloid-fibrillary-glomerulopathy
https://rarediseases.info.nih.gov/diseases/12740/non-amyloid-fibrillary-glomerulopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy
https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis
https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis/diagnosis
https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction
https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction/diagnosis
https://rarediseases.info.nih.gov/diseases/12749/autosomal-recessive-spastic-paraplegia-type-32
https://rarediseases.info.nih.gov/diseases/12749/autosomal-recessive-spastic-paraplegia-type-32/diagnosis
https://rarediseases.info.nih.gov/diseases/12754/hypertrichosis-universalis
https://rarediseases.info.nih.gov/diseases/12754/hypertrichosis-universalis/diagnosis
https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia
https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3q21q262-or-t33q21q262
https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3q21q262-or-t33q21q262/diagnosis
https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia
https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/12761/acute-myeloid-leukaemia-with-myelodysplasia-related-features
https://rarediseases.info.nih.gov/diseases/12761/acute-myeloid-leukaemia-with-myelodysplasia-related-features/diagnosis
https://rarediseases.info.nih.gov/diseases/12763/myeloid-sarcoma
https://rarediseases.info.nih.gov/diseases/12763/myeloid-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/12765/transient-myeloproliferative-syndrome
https://rarediseases.info.nih.gov/diseases/12765/transient-myeloproliferative-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12766/microduplication-xp1122p1123-syndrome
https://rarediseases.info.nih.gov/diseases/12766/microduplication-xp1122p1123-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome
https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12777/multiple-congenital-anomalies-hypotonia-seizures-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/12777/multiple-congenital-anomalies-hypotonia-seizures-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/12779/familial-retinal-arterial-macroaneurysm
https://rarediseases.info.nih.gov/diseases/12779/familial-retinal-arterial-macroaneurysm/diagnosis
https://rarediseases.info.nih.gov/diseases/12781/multiple-congenital-anomalies-hypotonia-seizures-syndrome
https://rarediseases.info.nih.gov/diseases/12781/multiple-congenital-anomalies-hypotonia-seizures-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy
https://rarediseases.info.nih.gov/diseases/12784/livedoid-vasculopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12792/juvenile-ossifying-fibroma
https://rarediseases.info.nih.gov/diseases/12792/juvenile-ossifying-fibroma/diagnosis
https://rarediseases.info.nih.gov/diseases/12794/autosomal-recessive-generalized-dystrophic-epidermolysis-bullosa-intermediate-form
https://rarediseases.info.nih.gov/diseases/12794/autosomal-recessive-generalized-dystrophic-epidermolysis-bullosa-intermediate-form/diagnosis
https://rarediseases.info.nih.gov/diseases/12796/dentinogenesis-imperfecta-type-2
https://rarediseases.info.nih.gov/diseases/12796/dentinogenesis-imperfecta-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/12798/early-onset-autosomal-dominant-alzheimer-disease
https://rarediseases.info.nih.gov/diseases/12798/early-onset-autosomal-dominant-alzheimer-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12799/alzheimer-disease-2
https://rarediseases.info.nih.gov/diseases/12799/alzheimer-disease-2/diagnosis
https://rarediseases.info.nih.gov/diseases/1280/primary-sclerosing-cholangitis
https://rarediseases.info.nih.gov/diseases/1280/primary-sclerosing-cholangitis/diagnosis
https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome
https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12801/proteus-like-syndrome
https://rarediseases.info.nih.gov/diseases/12801/proteus-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12806/autosomal-dominant-spondylocostal-dysostosis
https://rarediseases.info.nih.gov/diseases/12806/autosomal-dominant-spondylocostal-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome
https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12814/8q243-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/12814/8q243-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12815/severe-intellectual-disability-poor-language-strabismus-grimacing-face-long-fingers-syndrome
https://rarediseases.info.nih.gov/diseases/12815/severe-intellectual-disability-poor-language-strabismus-grimacing-face-long-fingers-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12819/generalized-pustular-psoriasis
https://rarediseases.info.nih.gov/diseases/12819/generalized-pustular-psoriasis/diagnosis
https://rarediseases.info.nih.gov/diseases/12820/pustulosis-palmaris-et-plantaris
https://rarediseases.info.nih.gov/diseases/12820/pustulosis-palmaris-et-plantaris/diagnosis
https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy
https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12822/typical-nemaline-myopathy
https://rarediseases.info.nih.gov/diseases/12822/typical-nemaline-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12823/intermediate-nemaline-myopathy
https://rarediseases.info.nih.gov/diseases/12823/intermediate-nemaline-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy
https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/12825/foxg1-syndrome
https://rarediseases.info.nih.gov/diseases/12825/foxg1-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12827/hypotrichosis-lymphedema-telangiectasia-renal-defect-syndrome
https://rarediseases.info.nih.gov/diseases/12827/hypotrichosis-lymphedema-telangiectasia-renal-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12829/pulmonary-non-tuberculous-mycobacterial-infection
https://rarediseases.info.nih.gov/diseases/12829/pulmonary-non-tuberculous-mycobacterial-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/12835/acute-interstitial-pneumonia
https://rarediseases.info.nih.gov/diseases/12835/acute-interstitial-pneumonia/diagnosis
https://rarediseases.info.nih.gov/diseases/12843/disseminated-peritoneal-leiomyomatosis
https://rarediseases.info.nih.gov/diseases/12843/disseminated-peritoneal-leiomyomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/12844/high-myopia-sensorineural-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/12844/high-myopia-sensorineural-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12845/cognitive-impairment-coarse-facies-heart-defects-obesity-pulmonary-involvement-short-stature-skeletal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/12845/cognitive-impairment-coarse-facies-heart-defects-obesity-pulmonary-involvement-short-stature-skeletal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12851/intellectual-developmental-disorder-autosomal-dominant-6-with-or-without-seizures
https://rarediseases.info.nih.gov/diseases/12851/intellectual-developmental-disorder-autosomal-dominant-6-with-or-without-seizures/diagnosis
https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder
https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/12860/spinocerebellar-ataxia-with-axonal-neuropathy-type-2
https://rarediseases.info.nih.gov/diseases/12860/spinocerebellar-ataxia-with-axonal-neuropathy-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/12862/generalized-peeling-skin-syndrome
https://rarediseases.info.nih.gov/diseases/12862/generalized-peeling-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome
https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12864/hyperlipidemia-due-to-hepatic-triacylglycerol-lipase-deficiency
https://rarediseases.info.nih.gov/diseases/12864/hyperlipidemia-due-to-hepatic-triacylglycerol-lipase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12867/cushing-disease
https://rarediseases.info.nih.gov/diseases/12867/cushing-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12868/irvan-syndrome
https://rarediseases.info.nih.gov/diseases/12868/irvan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2
https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/12889/isolated-childhood-apraxia-of-speech
https://rarediseases.info.nih.gov/diseases/12889/isolated-childhood-apraxia-of-speech/diagnosis
https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3
https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/12892/infantile-hypertrophic-cardiomyopathy-due-to-mrpl44-deficiency
https://rarediseases.info.nih.gov/diseases/12892/infantile-hypertrophic-cardiomyopathy-due-to-mrpl44-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12893/leukoencephalopathy-thalamus-and-brainstem-anomalies-high-lactate-syndrome
https://rarediseases.info.nih.gov/diseases/12893/leukoencephalopathy-thalamus-and-brainstem-anomalies-high-lactate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12894/zika-virus-disease
https://rarediseases.info.nih.gov/diseases/12894/zika-virus-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/12900/developmental-and-epileptic-encephalopathy-4
https://rarediseases.info.nih.gov/diseases/12900/developmental-and-epileptic-encephalopathy-4/diagnosis
https://rarediseases.info.nih.gov/diseases/12903/optic-atrophy-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/12903/optic-atrophy-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12913/polyhydramnios-megalencephaly-symptomatic-epilepsy-syndrome
https://rarediseases.info.nih.gov/diseases/12913/polyhydramnios-megalencephaly-symptomatic-epilepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12915/x-linked-mendelian-susceptibility-to-mycobacterial-diseases-due-to-ikbkg-deficiency
https://rarediseases.info.nih.gov/diseases/12915/x-linked-mendelian-susceptibility-to-mycobacterial-diseases-due-to-ikbkg-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome
https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-focal-seizures-of-infancy
https://rarediseases.info.nih.gov/diseases/12919/malignant-migrating-focal-seizures-of-infancy/diagnosis
https://rarediseases.info.nih.gov/diseases/1292/familial-calcium-pyrophosphate-deposition
https://rarediseases.info.nih.gov/diseases/1292/familial-calcium-pyrophosphate-deposition/diagnosis
https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/12922/intermediate-generalized-junctional-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/12922/intermediate-generalized-junctional-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/12925/familial-multiple-lipomatosis
https://rarediseases.info.nih.gov/diseases/12925/familial-multiple-lipomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/12927/acute-sensorineural-hearing-loss-by-acute-acoustic-trauma-or-sudden-deafness-or-surgery-induced-acoustic-trauma
https://rarediseases.info.nih.gov/diseases/12927/acute-sensorineural-hearing-loss-by-acute-acoustic-trauma-or-sudden-deafness-or-surgery-induced-acoustic-trauma/diagnosis
https://rarediseases.info.nih.gov/diseases/12931/adnp-syndrome
https://rarediseases.info.nih.gov/diseases/12931/adnp-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia
https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia/diagnosis
https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency
https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1296/brachytelephalangic-chondrodysplasia-punctata
https://rarediseases.info.nih.gov/diseases/1296/brachytelephalangic-chondrodysplasia-punctata/diagnosis
https://rarediseases.info.nih.gov/diseases/12963/megdel-syndrome
https://rarediseases.info.nih.gov/diseases/12963/megdel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12964/dilated-cardiomyopathy-with-ataxia
https://rarediseases.info.nih.gov/diseases/12964/dilated-cardiomyopathy-with-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/12967/reticulohistiocytoma
https://rarediseases.info.nih.gov/diseases/12967/reticulohistiocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/12973/madelung-deformity
https://rarediseases.info.nih.gov/diseases/12973/madelung-deformity/diagnosis
https://rarediseases.info.nih.gov/diseases/12977/mendelian-susceptibility-to-mycobacterial-diseases
https://rarediseases.info.nih.gov/diseases/12977/mendelian-susceptibility-to-mycobacterial-diseases/diagnosis
https://rarediseases.info.nih.gov/diseases/12978/proximal-myopathy-with-extrapyramidal-signs
https://rarediseases.info.nih.gov/diseases/12978/proximal-myopathy-with-extrapyramidal-signs/diagnosis
https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type
https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type/diagnosis
https://rarediseases.info.nih.gov/diseases/12980/monoclonal-mast-cell-activation-syndrome
https://rarediseases.info.nih.gov/diseases/12980/monoclonal-mast-cell-activation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12981/mast-cell-activation-syndrome
https://rarediseases.info.nih.gov/diseases/12981/mast-cell-activation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption
https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption/diagnosis
https://rarediseases.info.nih.gov/diseases/12986/acyl-coa-dehydrogenase-9-deficiency
https://rarediseases.info.nih.gov/diseases/12986/acyl-coa-dehydrogenase-9-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/12991/aquagenic-palmoplantar-keratoderma
https://rarediseases.info.nih.gov/diseases/12991/aquagenic-palmoplantar-keratoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/13/aniridia-cerebellar-ataxia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/13/aniridia-cerebellar-ataxia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1300/acromesomelic-dysplasia-grebe-type
https://rarediseases.info.nih.gov/diseases/1300/acromesomelic-dysplasia-grebe-type/diagnosis
https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus
https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus/diagnosis
https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease
https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/13007/hemoglobin-m-disease
https://rarediseases.info.nih.gov/diseases/13007/hemoglobin-m-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome
https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13011/anti-neutrophil-cytoplasmic-antibody-associated-vasculitis
https://rarediseases.info.nih.gov/diseases/13011/anti-neutrophil-cytoplasmic-antibody-associated-vasculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency
https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13016/immune-dysregulation-inflammatory-bowel-disease-arthritis-recurrent-infections-syndrome
https://rarediseases.info.nih.gov/diseases/13016/immune-dysregulation-inflammatory-bowel-disease-arthritis-recurrent-infections-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13019/mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency
https://rarediseases.info.nih.gov/diseases/13019/mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13020/microcystic-lymphatic-malformation
https://rarediseases.info.nih.gov/diseases/13020/microcystic-lymphatic-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/13025/woolly-hair-nevus
https://rarediseases.info.nih.gov/diseases/13025/woolly-hair-nevus/diagnosis
https://rarediseases.info.nih.gov/diseases/13029/episodic-angioedema-with-eosinophilia
https://rarediseases.info.nih.gov/diseases/13029/episodic-angioedema-with-eosinophilia/diagnosis
https://rarediseases.info.nih.gov/diseases/1303/chordoma
https://rarediseases.info.nih.gov/diseases/1303/chordoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome
https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13032/cortical-dysgenesis-with-pontocerebellar-hypoplasia-due-to-tubb3-mutation
https://rarediseases.info.nih.gov/diseases/13032/cortical-dysgenesis-with-pontocerebellar-hypoplasia-due-to-tubb3-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/13034/neuroendocrine-tumor-of-pancreas
https://rarediseases.info.nih.gov/diseases/13034/neuroendocrine-tumor-of-pancreas/diagnosis
https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica
https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica/diagnosis
https://rarediseases.info.nih.gov/diseases/13041/thrombophilia-due-to-protein-c-deficiency-autosomal-recessive
https://rarediseases.info.nih.gov/diseases/13041/thrombophilia-due-to-protein-c-deficiency-autosomal-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/13043/intellectual-disability-craniofacial-dysmorphism-cryptorchidism-syndrome
https://rarediseases.info.nih.gov/diseases/13043/intellectual-disability-craniofacial-dysmorphism-cryptorchidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13046/giant-cell-tumor-of-bone
https://rarediseases.info.nih.gov/diseases/13046/giant-cell-tumor-of-bone/diagnosis
https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea
https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea/diagnosis
https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia
https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia/diagnosis
https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome
https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d
https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d/diagnosis
https://rarediseases.info.nih.gov/diseases/13060/kcnq2-related-epileptic-encephalopathy
https://rarediseases.info.nih.gov/diseases/13060/kcnq2-related-epileptic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/13063/bockenheimer-syndrome
https://rarediseases.info.nih.gov/diseases/13063/bockenheimer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome
https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13072/primary-hypomagnesemia-with-secondary-hypocalcemia
https://rarediseases.info.nih.gov/diseases/13072/primary-hypomagnesemia-with-secondary-hypocalcemia/diagnosis
https://rarediseases.info.nih.gov/diseases/13073/nevus-comedonicus-syndrome
https://rarediseases.info.nih.gov/diseases/13073/nevus-comedonicus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma
https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma/diagnosis
https://rarediseases.info.nih.gov/diseases/13085/developmental-and-epileptic-encephalopathy-13
https://rarediseases.info.nih.gov/diseases/13085/developmental-and-epileptic-encephalopathy-13/diagnosis
https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency
https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13105/dent-disease
https://rarediseases.info.nih.gov/diseases/13105/dent-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/13108/mirage-syndrome
https://rarediseases.info.nih.gov/diseases/13108/mirage-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus
https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus/diagnosis
https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4
https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/13112/ataxia-oculomotor-apraxia-3
https://rarediseases.info.nih.gov/diseases/13112/ataxia-oculomotor-apraxia-3/diagnosis
https://rarediseases.info.nih.gov/diseases/13113/infantile-liver-failure-syndrome-2
https://rarediseases.info.nih.gov/diseases/13113/infantile-liver-failure-syndrome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/13114/acute-infantile-liver-failure-multisystemic-involvement-syndrome
https://rarediseases.info.nih.gov/diseases/13114/acute-infantile-liver-failure-multisystemic-involvement-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism
https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism/diagnosis
https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension
https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension/diagnosis
https://rarediseases.info.nih.gov/diseases/13125/cidec-related-familial-partial-lipodystrophy
https://rarediseases.info.nih.gov/diseases/13125/cidec-related-familial-partial-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy
https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1313/infantile-choroidocerebral-calcification-syndrome
https://rarediseases.info.nih.gov/diseases/1313/infantile-choroidocerebral-calcification-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13131/hematohidrosis
https://rarediseases.info.nih.gov/diseases/13131/hematohidrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/13136/intellectual-developmental-disorder-autosomal-dominant-30
https://rarediseases.info.nih.gov/diseases/13136/intellectual-developmental-disorder-autosomal-dominant-30/diagnosis
https://rarediseases.info.nih.gov/diseases/13142/acute-flaccid-myelitis
https://rarediseases.info.nih.gov/diseases/13142/acute-flaccid-myelitis/diagnosis
https://rarediseases.info.nih.gov/diseases/13154/tibial-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/13154/tibial-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/13157/hereditary-papillary-renal-cell-carcinoma
https://rarediseases.info.nih.gov/diseases/13157/hereditary-papillary-renal-cell-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13158/staphylococcal-scalded-skin-syndrome
https://rarediseases.info.nih.gov/diseases/13158/staphylococcal-scalded-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata
https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata/diagnosis
https://rarediseases.info.nih.gov/diseases/13167/familial-isolated-trichomegaly
https://rarediseases.info.nih.gov/diseases/13167/familial-isolated-trichomegaly/diagnosis
https://rarediseases.info.nih.gov/diseases/13168/corticobasal-syndrome
https://rarediseases.info.nih.gov/diseases/13168/corticobasal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13169/chst3-related-skeletal-dysplasia
https://rarediseases.info.nih.gov/diseases/13169/chst3-related-skeletal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/13171/autosomal-recessive-brachyolmia
https://rarediseases.info.nih.gov/diseases/13171/autosomal-recessive-brachyolmia/diagnosis
https://rarediseases.info.nih.gov/diseases/13175/renal-medullary-carcinoma
https://rarediseases.info.nih.gov/diseases/13175/renal-medullary-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13177/s-adenosylhomocysteine-hydrolase-deficiency
https://rarediseases.info.nih.gov/diseases/13177/s-adenosylhomocysteine-hydrolase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13179/intellectual-developmental-disorder-autosomal-dominant-43
https://rarediseases.info.nih.gov/diseases/13179/intellectual-developmental-disorder-autosomal-dominant-43/diagnosis
https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum
https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum/diagnosis
https://rarediseases.info.nih.gov/diseases/1319/chromomycosis
https://rarediseases.info.nih.gov/diseases/1319/chromomycosis/diagnosis
https://rarediseases.info.nih.gov/diseases/13197/developmental-and-epileptic-encephalopathy-94
https://rarediseases.info.nih.gov/diseases/13197/developmental-and-epileptic-encephalopathy-94/diagnosis
https://rarediseases.info.nih.gov/diseases/13198/infantile-onset-periodic-fever-panniculitis-dermatosis-syndrome
https://rarediseases.info.nih.gov/diseases/13198/infantile-onset-periodic-fever-panniculitis-dermatosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13199/cystic-leukoencephalopathy-without-megalencephaly
https://rarediseases.info.nih.gov/diseases/13199/cystic-leukoencephalopathy-without-megalencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis
https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1320/ring-chromosome-1-syndrome
https://rarediseases.info.nih.gov/diseases/1320/ring-chromosome-1-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13200/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy
https://rarediseases.info.nih.gov/diseases/13200/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/13201/hyperammonemic-encephalopathy-due-to-carbonic-anhydrase-va-deficiency
https://rarediseases.info.nih.gov/diseases/13201/hyperammonemic-encephalopathy-due-to-carbonic-anhydrase-va-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13202/neurodegeneration-due-to-3-hydroxyisobutyryl-coa-hydrolase-deficiency
https://rarediseases.info.nih.gov/diseases/13202/neurodegeneration-due-to-3-hydroxyisobutyryl-coa-hydrolase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13206/2q32q33-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/13206/2q32q33-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome
https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13215/renal-cell-carcinoma
https://rarediseases.info.nih.gov/diseases/13215/renal-cell-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13218/hereditary-fibrosing-poikiloderma-tendon-contractures-myopathy-pulmonary-fibrosis-syndrome
https://rarediseases.info.nih.gov/diseases/13218/hereditary-fibrosing-poikiloderma-tendon-contractures-myopathy-pulmonary-fibrosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13219/bap1-related-tumor-predisposition-syndrome
https://rarediseases.info.nih.gov/diseases/13219/bap1-related-tumor-predisposition-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10-syndrome
https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13220/lethal-congenital-contracture-syndrome-11
https://rarediseases.info.nih.gov/diseases/13220/lethal-congenital-contracture-syndrome-11/diagnosis
https://rarediseases.info.nih.gov/diseases/13221/severe-intellectual-disability-progressive-postnatal-microcephaly-midline-stereotypic-hand-movements-syndrome
https://rarediseases.info.nih.gov/diseases/13221/severe-intellectual-disability-progressive-postnatal-microcephaly-midline-stereotypic-hand-movements-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13222/bicd2-related-autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/13222/bicd2-related-autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1323/distal-monosomy-10p
https://rarediseases.info.nih.gov/diseases/1323/distal-monosomy-10p/diagnosis
https://rarediseases.info.nih.gov/diseases/13232/familial-acute-necrotizing-encephalopathy
https://rarediseases.info.nih.gov/diseases/13232/familial-acute-necrotizing-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/13233/acute-necrotizing-encephalopathy
https://rarediseases.info.nih.gov/diseases/13233/acute-necrotizing-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/13235/microphthalmia-syndromic-12
https://rarediseases.info.nih.gov/diseases/13235/microphthalmia-syndromic-12/diagnosis
https://rarediseases.info.nih.gov/diseases/13237/marginal-zone-lymphoma
https://rarediseases.info.nih.gov/diseases/13237/marginal-zone-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13244/x-linked-intellectual-disability-cabezas-type
https://rarediseases.info.nih.gov/diseases/13244/x-linked-intellectual-disability-cabezas-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12-syndrome
https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13256/igg4-related-pachymeningitis
https://rarediseases.info.nih.gov/diseases/13256/igg4-related-pachymeningitis/diagnosis
https://rarediseases.info.nih.gov/diseases/13259/bainbridge-ropers-syndrome
https://rarediseases.info.nih.gov/diseases/13259/bainbridge-ropers-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration
https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14
https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14/diagnosis
https://rarediseases.info.nih.gov/diseases/13273/phosphoserine-aminotransferase-deficiency-infantilejuvenile-form
https://rarediseases.info.nih.gov/diseases/13273/phosphoserine-aminotransferase-deficiency-infantilejuvenile-form/diagnosis
https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15-syndrome
https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13293/bleeding-diathesis-due-to-glycoprotein-vi-deficiency
https://rarediseases.info.nih.gov/diseases/13293/bleeding-diathesis-due-to-glycoprotein-vi-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13294/ankyrin-b-syndrome
https://rarediseases.info.nih.gov/diseases/13294/ankyrin-b-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13295/familial-focal-epilepsy-with-variable-foci
https://rarediseases.info.nih.gov/diseases/13295/familial-focal-epilepsy-with-variable-foci/diagnosis
https://rarediseases.info.nih.gov/diseases/13296/17q12-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/13296/17q12-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13297/17q12-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/13297/17q12-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13298/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-variable-craniofacial-anomalies
https://rarediseases.info.nih.gov/diseases/13298/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-variable-craniofacial-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/13316/magel2-related-prader-willi-like-syndrome
https://rarediseases.info.nih.gov/diseases/13316/magel2-related-prader-willi-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13318/developmental-and-epileptic-encephalopathy-12
https://rarediseases.info.nih.gov/diseases/13318/developmental-and-epileptic-encephalopathy-12/diagnosis
https://rarediseases.info.nih.gov/diseases/13319/fatty-acyl-coa-reductase-1-deficiency
https://rarediseases.info.nih.gov/diseases/13319/fatty-acyl-coa-reductase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19-syndrome
https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis
https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease
https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/13339/benta-disease
https://rarediseases.info.nih.gov/diseases/13339/benta-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20-syndrome
https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13349/postaxial-polydactyly-anterior-pituitary-anomalies-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/13349/postaxial-polydactyly-anterior-pituitary-anomalies-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13354/morning-glory-disc-anomaly
https://rarediseases.info.nih.gov/diseases/13354/morning-glory-disc-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22-syndrome
https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13361/autosomal-recessive-intellectual-disability-58
https://rarediseases.info.nih.gov/diseases/13361/autosomal-recessive-intellectual-disability-58/diagnosis
https://rarediseases.info.nih.gov/diseases/13371/magic-syndrome
https://rarediseases.info.nih.gov/diseases/13371/magic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13376/epiphyseal-dysplasia-multiple-6
https://rarediseases.info.nih.gov/diseases/13376/epiphyseal-dysplasia-multiple-6/diagnosis
https://rarediseases.info.nih.gov/diseases/13378/developmental-and-epileptic-encephalopathy-17
https://rarediseases.info.nih.gov/diseases/13378/developmental-and-epileptic-encephalopathy-17/diagnosis
https://rarediseases.info.nih.gov/diseases/13379/intellectual-developmental-disorder-autosomal-dominant-29
https://rarediseases.info.nih.gov/diseases/13379/intellectual-developmental-disorder-autosomal-dominant-29/diagnosis
https://rarediseases.info.nih.gov/diseases/13381/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate
https://rarediseases.info.nih.gov/diseases/13381/leukoencephalopathy-with-thalamus-and-brainstem-involvement-and-high-lactate/diagnosis
https://rarediseases.info.nih.gov/diseases/13388/congenital-generalized-lipodystrophy
https://rarediseases.info.nih.gov/diseases/13388/congenital-generalized-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/13389/lipodystrophy-congenital-generalized-type-3
https://rarediseases.info.nih.gov/diseases/13389/lipodystrophy-congenital-generalized-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4-syndrome
https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13391/2p15p161-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/13391/2p15p161-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-congenita-strudwick-type
https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-congenita-strudwick-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1340/chromosome-4q-deletion
https://rarediseases.info.nih.gov/diseases/1340/chromosome-4q-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/13406/limbic-encephalitis-with-lgi1-antibodies
https://rarediseases.info.nih.gov/diseases/13406/limbic-encephalitis-with-lgi1-antibodies/diagnosis
https://rarediseases.info.nih.gov/diseases/13409/ahdc1-related-intellectual-disability-obstructive-sleep-apnea-mild-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/13409/ahdc1-related-intellectual-disability-obstructive-sleep-apnea-mild-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13418/neurodevelopmental-disorder-craniofacial-dysmorphism-cardiac-defect-skeletal-anomalies-syndrome-due-to-a-point-mutation
https://rarediseases.info.nih.gov/diseases/13418/neurodevelopmental-disorder-craniofacial-dysmorphism-cardiac-defect-skeletal-anomalies-syndrome-due-to-a-point-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/13422/rahman-syndrome
https://rarediseases.info.nih.gov/diseases/13422/rahman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13423/recurrent-metabolic-encephalomyopathic-crises-rhabdomyolysis-cardiac-arrhythmia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/13423/recurrent-metabolic-encephalomyopathic-crises-rhabdomyolysis-cardiac-arrhythmia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13425/spastic-tetraplegia-thin-corpus-callosum-progressive-postnatal-microcephaly-syndrome
https://rarediseases.info.nih.gov/diseases/13425/spastic-tetraplegia-thin-corpus-callosum-progressive-postnatal-microcephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13431/temple-syndrome
https://rarediseases.info.nih.gov/diseases/13431/temple-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13442/bain-type-of-x-linked-syndromic-intellectual-disability
https://rarediseases.info.nih.gov/diseases/13442/bain-type-of-x-linked-syndromic-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/13446/plasmacytoma
https://rarediseases.info.nih.gov/diseases/13446/plasmacytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13447/pens-syndrome
https://rarediseases.info.nih.gov/diseases/13447/pens-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7-syndrome
https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13451/kaposiform-lymphangiomatosis
https://rarediseases.info.nih.gov/diseases/13451/kaposiform-lymphangiomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1346/chromosome-7p-deletion
https://rarediseases.info.nih.gov/diseases/1346/chromosome-7p-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/13461/ren-related-autosomal-dominant-tubulointerstitial-kidney-disease
https://rarediseases.info.nih.gov/diseases/13461/ren-related-autosomal-dominant-tubulointerstitial-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1347/ring-chromosome-8-syndrome
https://rarediseases.info.nih.gov/diseases/1347/ring-chromosome-8-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13472/fth1-related-iron-overload
https://rarediseases.info.nih.gov/diseases/13472/fth1-related-iron-overload/diagnosis
https://rarediseases.info.nih.gov/diseases/13474/intellectual-disability-epilepsy-extrapyramidal-syndrome
https://rarediseases.info.nih.gov/diseases/13474/intellectual-disability-epilepsy-extrapyramidal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9-syndrome
https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13488/mepan-syndrome
https://rarediseases.info.nih.gov/diseases/13488/mepan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13489/brain-malformations-musculoskeletal-abnormalities-facial-dysmorphism-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/13489/brain-malformations-musculoskeletal-abnormalities-facial-dysmorphism-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13519/dync1h1-related-autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/13519/dync1h1-related-autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/13527/dyrk1a-related-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/13527/dyrk1a-related-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13539/neurodevelopmental-disorder-with-hypotonia-impaired-language-and-dysmorphic-features
https://rarediseases.info.nih.gov/diseases/13539/neurodevelopmental-disorder-with-hypotonia-impaired-language-and-dysmorphic-features/diagnosis
https://rarediseases.info.nih.gov/diseases/1356/cinca-syndrome
https://rarediseases.info.nih.gov/diseases/1356/cinca-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13565/combined-immunodeficiency-due-to-lrba-deficiency
https://rarediseases.info.nih.gov/diseases/13565/combined-immunodeficiency-due-to-lrba-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13568/hereditary-sensory-and-autonomic-neuropathy-due-to-tecpr2-mutation
https://rarediseases.info.nih.gov/diseases/13568/hereditary-sensory-and-autonomic-neuropathy-due-to-tecpr2-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/13571/childhood-encephalopathy-due-to-thiamine-pyrophosphokinase-deficiency
https://rarediseases.info.nih.gov/diseases/13571/childhood-encephalopathy-due-to-thiamine-pyrophosphokinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1358/intellectual-disability-myopathy-short-stature-endocrine-defect-syndrome
https://rarediseases.info.nih.gov/diseases/1358/intellectual-disability-myopathy-short-stature-endocrine-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13587/combined-immunodeficiency-with-granulomatosis
https://rarediseases.info.nih.gov/diseases/13587/combined-immunodeficiency-with-granulomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/13588/pontiac-fever
https://rarediseases.info.nih.gov/diseases/13588/pontiac-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites
https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites/diagnosis
https://rarediseases.info.nih.gov/diseases/13591/postural-orthostatic-tachycardia-syndrome-due-to-net-deficiency
https://rarediseases.info.nih.gov/diseases/13591/postural-orthostatic-tachycardia-syndrome-due-to-net-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13592/severe-congenital-neutropenia
https://rarediseases.info.nih.gov/diseases/13592/severe-congenital-neutropenia/diagnosis
https://rarediseases.info.nih.gov/diseases/13593/rosette-forming-glioneuronal-tumor
https://rarediseases.info.nih.gov/diseases/13593/rosette-forming-glioneuronal-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/13594/brain-dopamine-serotonin-vesicular-transport-disease
https://rarediseases.info.nih.gov/diseases/13594/brain-dopamine-serotonin-vesicular-transport-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation
https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation/diagnosis
https://rarediseases.info.nih.gov/diseases/13606/subcorneal-pustular-dermatosis
https://rarediseases.info.nih.gov/diseases/13606/subcorneal-pustular-dermatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/13608/neurodevelopmental-disorder-with-severe-motor-impairment-and-absent-language
https://rarediseases.info.nih.gov/diseases/13608/neurodevelopmental-disorder-with-severe-motor-impairment-and-absent-language/diagnosis
https://rarediseases.info.nih.gov/diseases/1361/ciliary-dyskinesia-with-transposition-of-ciliary-microtubules
https://rarediseases.info.nih.gov/diseases/1361/ciliary-dyskinesia-with-transposition-of-ciliary-microtubules/diagnosis
https://rarediseases.info.nih.gov/diseases/13613/pneumonia-caused-by-pseudomonas-aeruginosa-infection
https://rarediseases.info.nih.gov/diseases/13613/pneumonia-caused-by-pseudomonas-aeruginosa-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/13621/cad-cdg
https://rarediseases.info.nih.gov/diseases/13621/cad-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/13624/anaplastic-pleomorphic-xanthoastrocytoma
https://rarediseases.info.nih.gov/diseases/13624/anaplastic-pleomorphic-xanthoastrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13629/drug-reaction-with-eosinophilia-and-systemic-symptoms
https://rarediseases.info.nih.gov/diseases/13629/drug-reaction-with-eosinophilia-and-systemic-symptoms/diagnosis
https://rarediseases.info.nih.gov/diseases/13636/macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome
https://rarediseases.info.nih.gov/diseases/13636/macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13638/x-linked-female-restricted-facial-dysmorphism-short-stature-choanal-atresia-intellectual-disability
https://rarediseases.info.nih.gov/diseases/13638/x-linked-female-restricted-facial-dysmorphism-short-stature-choanal-atresia-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/13639/classic-galactosemia
https://rarediseases.info.nih.gov/diseases/13639/classic-galactosemia/diagnosis
https://rarediseases.info.nih.gov/diseases/13641/familial-cerebral-cavernous-malformation
https://rarediseases.info.nih.gov/diseases/13641/familial-cerebral-cavernous-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/13643/mitochondrial-dna-depletion-syndrome
https://rarediseases.info.nih.gov/diseases/13643/mitochondrial-dna-depletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13644/mitochondrial-dna-depletion-syndrome-hepatocerebral-form-due-to-dguok-deficiency
https://rarediseases.info.nih.gov/diseases/13644/mitochondrial-dna-depletion-syndrome-hepatocerebral-form-due-to-dguok-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13655/orofaciodigital-syndrome-type-14
https://rarediseases.info.nih.gov/diseases/13655/orofaciodigital-syndrome-type-14/diagnosis
https://rarediseases.info.nih.gov/diseases/13658/childhood-onset-motor-and-cognitive-regression-syndrome-with-extrapyramidal-movement-disorder
https://rarediseases.info.nih.gov/diseases/13658/childhood-onset-motor-and-cognitive-regression-syndrome-with-extrapyramidal-movement-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/13659/hepatitis-d
https://rarediseases.info.nih.gov/diseases/13659/hepatitis-d/diagnosis
https://rarediseases.info.nih.gov/diseases/13661/classic-multiminicore-myopathy
https://rarediseases.info.nih.gov/diseases/13661/classic-multiminicore-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/13663/familial-sick-sinus-syndrome
https://rarediseases.info.nih.gov/diseases/13663/familial-sick-sinus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13671/dyt-kmt2b
https://rarediseases.info.nih.gov/diseases/13671/dyt-kmt2b/diagnosis
https://rarediseases.info.nih.gov/diseases/13676/developmental-and-epileptic-encephalopathy-18
https://rarediseases.info.nih.gov/diseases/13676/developmental-and-epileptic-encephalopathy-18/diagnosis
https://rarediseases.info.nih.gov/diseases/13681/early-infantile-epileptic-encephalopathy-64
https://rarediseases.info.nih.gov/diseases/13681/early-infantile-epileptic-encephalopathy-64/diagnosis
https://rarediseases.info.nih.gov/diseases/13686/neurodevelopmental-disorder-with-or-without-hyperkinetic-movements-and-seizures-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/13686/neurodevelopmental-disorder-with-or-without-hyperkinetic-movements-and-seizures-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/1369/tibial-aplasia-ectrodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/1369/tibial-aplasia-ectrodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia
https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia/diagnosis
https://rarediseases.info.nih.gov/diseases/13701/primary-cutaneous-follicle-center-lymphoma
https://rarediseases.info.nih.gov/diseases/13701/primary-cutaneous-follicle-center-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/13708/warsaw-breakage-syndrome
https://rarediseases.info.nih.gov/diseases/13708/warsaw-breakage-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13712/combined-immunodeficiency-due-to-partial-rag1-deficiency
https://rarediseases.info.nih.gov/diseases/13712/combined-immunodeficiency-due-to-partial-rag1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/13731/t-cell-prolymphocytic-leukemia
https://rarediseases.info.nih.gov/diseases/13731/t-cell-prolymphocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/13737/spastic-paraplegia-51-autosomal-recessive
https://rarediseases.info.nih.gov/diseases/13737/spastic-paraplegia-51-autosomal-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/13743/multicentric-osteolysis-nodulosis-and-arthropathy
https://rarediseases.info.nih.gov/diseases/13743/multicentric-osteolysis-nodulosis-and-arthropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/13774/white-sutton-syndrome
https://rarediseases.info.nih.gov/diseases/13774/white-sutton-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13781/aica-ribosiduria
https://rarediseases.info.nih.gov/diseases/13781/aica-ribosiduria/diagnosis
https://rarediseases.info.nih.gov/diseases/13809/fundus-albipunctatus
https://rarediseases.info.nih.gov/diseases/13809/fundus-albipunctatus/diagnosis
https://rarediseases.info.nih.gov/diseases/13811/malan-overgrowth-syndrome
https://rarediseases.info.nih.gov/diseases/13811/malan-overgrowth-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13818/sphingosine-phosphate-lyase-insufficiency-syndrome
https://rarediseases.info.nih.gov/diseases/13818/sphingosine-phosphate-lyase-insufficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/13824/proteasome-associated-autoinflammatory-syndrome
https://rarediseases.info.nih.gov/diseases/13824/proteasome-associated-autoinflammatory-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/139/familial-atrial-myxoma
https://rarediseases.info.nih.gov/diseases/139/familial-atrial-myxoma/diagnosis
https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome
https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia-syndrome
https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1394/x-linked-cleft-palate-and-ankyloglossia
https://rarediseases.info.nih.gov/diseases/1394/x-linked-cleft-palate-and-ankyloglossia/diagnosis
https://rarediseases.info.nih.gov/diseases/140/atresia-of-small-intestine
https://rarediseases.info.nih.gov/diseases/140/atresia-of-small-intestine/diagnosis
https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2
https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/1410/joubert-syndrome-with-hepatic-defect
https://rarediseases.info.nih.gov/diseases/1410/joubert-syndrome-with-hepatic-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/1413/cocaine-embryofetopathy
https://rarediseases.info.nih.gov/diseases/1413/cocaine-embryofetopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome
https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1420/cockayne-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/1420/cockayne-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/1421/cogan-syndrome
https://rarediseases.info.nih.gov/diseases/1421/cogan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1425/cole-carpenter-syndrome
https://rarediseases.info.nih.gov/diseases/1425/cole-carpenter-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1428/dislocation-of-the-hip-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/1428/dislocation-of-the-hip-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/143/hypertrichosis-cubiti
https://rarediseases.info.nih.gov/diseases/143/hypertrichosis-cubiti/diagnosis
https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens
https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens/diagnosis
https://rarediseases.info.nih.gov/diseases/1434/coloboma-of-iris
https://rarediseases.info.nih.gov/diseases/1434/coloboma-of-iris/diagnosis
https://rarediseases.info.nih.gov/diseases/1436/coloboma-of-macula
https://rarediseases.info.nih.gov/diseases/1436/coloboma-of-macula/diagnosis
https://rarediseases.info.nih.gov/diseases/1437/coloboma-of-macula-brachydactyly-type-b-syndrome
https://rarediseases.info.nih.gov/diseases/1437/coloboma-of-macula-brachydactyly-type-b-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1438/coloboma-of-optic-disc
https://rarediseases.info.nih.gov/diseases/1438/coloboma-of-optic-disc/diagnosis
https://rarediseases.info.nih.gov/diseases/144/prominent-glabella-microcephaly-hypogenitalism-syndrome
https://rarediseases.info.nih.gov/diseases/144/prominent-glabella-microcephaly-hypogenitalism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1440/uveal-coloboma-cleft-lip-and-palate-intellectual-disability
https://rarediseases.info.nih.gov/diseases/1440/uveal-coloboma-cleft-lip-and-palate-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/1443/anophthalmiamicrophthalmia-esophageal-atresia-syndrome
https://rarediseases.info.nih.gov/diseases/1443/anophthalmiamicrophthalmia-esophageal-atresia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1446/colonic-atresia
https://rarediseases.info.nih.gov/diseases/1446/colonic-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency
https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-septal-defect
https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-septal-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/1460/conductive-deafness-malformed-external-ear-syndrome
https://rarediseases.info.nih.gov/diseases/1460/conductive-deafness-malformed-external-ear-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2
https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2/diagnosis
https://rarediseases.info.nih.gov/diseases/1463/jalili-syndrome
https://rarediseases.info.nih.gov/diseases/1463/jalili-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1465/congenital-lipoid-adrenal-hyperplasia-due-to-star-deficency
https://rarediseases.info.nih.gov/diseases/1465/congenital-lipoid-adrenal-hyperplasia-due-to-star-deficency/diagnosis
https://rarediseases.info.nih.gov/diseases/1467/congenital-adrenal-hyperplasia
https://rarediseases.info.nih.gov/diseases/1467/congenital-adrenal-hyperplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/1469/congenital-adrenal-hyperplasia-due-to-17-alpha-hydroxylase-deficiency
https://rarediseases.info.nih.gov/diseases/1469/congenital-adrenal-hyperplasia-due-to-17-alpha-hydroxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1474/autosomal-dominant-congenital-benign-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/1474/autosomal-dominant-congenital-benign-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1475/congenital-respiratory-biliary-fistula
https://rarediseases.info.nih.gov/diseases/1475/congenital-respiratory-biliary-fistula/diagnosis
https://rarediseases.info.nih.gov/diseases/1480/fetal-cytomegalovirus-syndrome
https://rarediseases.info.nih.gov/diseases/1480/fetal-cytomegalovirus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1481/congenital-diaphragmatic-hernia
https://rarediseases.info.nih.gov/diseases/1481/congenital-diaphragmatic-hernia/diagnosis
https://rarediseases.info.nih.gov/diseases/1487/congenital-hypothyroidism
https://rarediseases.info.nih.gov/diseases/1487/congenital-hypothyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/1489/congenital-ichthyosis-microcephalus-tetraplegia-syndrome
https://rarediseases.info.nih.gov/diseases/1489/congenital-ichthyosis-microcephalus-tetraplegia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma
https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma/diagnosis
https://rarediseases.info.nih.gov/diseases/1496/congenital-mitral-stenosis
https://rarediseases.info.nih.gov/diseases/1496/congenital-mitral-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type
https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type/diagnosis
https://rarediseases.info.nih.gov/diseases/15000/lig4-syndrome
https://rarediseases.info.nih.gov/diseases/15000/lig4-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/15004/fadd-related-immunodeficiency
https://rarediseases.info.nih.gov/diseases/15004/fadd-related-immunodeficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/15012/autosomal-recessive-malignant-osteopetrosis
https://rarediseases.info.nih.gov/diseases/15012/autosomal-recessive-malignant-osteopetrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/15013/craniometaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/15013/craniometaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/15015/achromatopsia
https://rarediseases.info.nih.gov/diseases/15015/achromatopsia/diagnosis
https://rarediseases.info.nih.gov/diseases/15016/striate-palmoplantar-keratoderma
https://rarediseases.info.nih.gov/diseases/15016/striate-palmoplantar-keratoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/15018/interatrial-communication
https://rarediseases.info.nih.gov/diseases/15018/interatrial-communication/diagnosis
https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome
https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/15020/non-acquired-panhypopituitarism
https://rarediseases.info.nih.gov/diseases/15020/non-acquired-panhypopituitarism/diagnosis
https://rarediseases.info.nih.gov/diseases/15021/angioma-serpiginosum
https://rarediseases.info.nih.gov/diseases/15021/angioma-serpiginosum/diagnosis
https://rarediseases.info.nih.gov/diseases/15024/multiple-epiphyseal-dysplasia-due-to-collagen-9-anomaly
https://rarediseases.info.nih.gov/diseases/15024/multiple-epiphyseal-dysplasia-due-to-collagen-9-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/15025/immunodeficiency-due-to-a-classical-component-pathway-complement-deficiency
https://rarediseases.info.nih.gov/diseases/15025/immunodeficiency-due-to-a-classical-component-pathway-complement-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/15028/non-specific-early-onset-epileptic-encephalopathy
https://rarediseases.info.nih.gov/diseases/15028/non-specific-early-onset-epileptic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1503/femoral-agenesishypoplasia
https://rarediseases.info.nih.gov/diseases/1503/femoral-agenesishypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/15048/sotos-syndrome
https://rarediseases.info.nih.gov/diseases/15048/sotos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/15054/seizures-benign-familial-neonatal-2
https://rarediseases.info.nih.gov/diseases/15054/seizures-benign-familial-neonatal-2/diagnosis
https://rarediseases.info.nih.gov/diseases/15055/cutis-laxa-autosomal-dominant-1
https://rarediseases.info.nih.gov/diseases/15055/cutis-laxa-autosomal-dominant-1/diagnosis
https://rarediseases.info.nih.gov/diseases/15072/coffin-siris-syndrome-1
https://rarediseases.info.nih.gov/diseases/15072/coffin-siris-syndrome-1/diagnosis
https://rarediseases.info.nih.gov/diseases/15095/neuropathy-hereditary-sensory-and-autonomic-type-ia
https://rarediseases.info.nih.gov/diseases/15095/neuropathy-hereditary-sensory-and-autonomic-type-ia/diagnosis
https://rarediseases.info.nih.gov/diseases/1512/hereditary-continuous-muscle-fiber-activity
https://rarediseases.info.nih.gov/diseases/1512/hereditary-continuous-muscle-fiber-activity/diagnosis
https://rarediseases.info.nih.gov/diseases/1513/continuous-spikes-and-waves-during-sleep
https://rarediseases.info.nih.gov/diseases/1513/continuous-spikes-and-waves-during-sleep/diagnosis
https://rarediseases.info.nih.gov/diseases/1515/contractures-ectodermal-dysplasia-cleft-lippalate-syndrome
https://rarediseases.info.nih.gov/diseases/1515/contractures-ectodermal-dysplasia-cleft-lippalate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1516/restrictive-dermopathy
https://rarediseases.info.nih.gov/diseases/1516/restrictive-dermopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1519/benign-familial-neonatal-epilepsy
https://rarediseases.info.nih.gov/diseases/1519/benign-familial-neonatal-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/1521/menkes-disease
https://rarediseases.info.nih.gov/diseases/1521/menkes-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1522/familial-benign-copper-deficiency
https://rarediseases.info.nih.gov/diseases/1522/familial-benign-copper-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/15222/pituitary-hormone-deficiency-combined-2
https://rarediseases.info.nih.gov/diseases/15222/pituitary-hormone-deficiency-combined-2/diagnosis
https://rarediseases.info.nih.gov/diseases/1525/spinocerebellar-degeneration-corneal-dystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/1525/spinocerebellar-degeneration-corneal-dystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/15255/progressive-familial-intrahepatic-cholestasis
https://rarediseases.info.nih.gov/diseases/15255/progressive-familial-intrahepatic-cholestasis/diagnosis
https://rarediseases.info.nih.gov/diseases/15266/chromosome-xq28-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/15266/chromosome-xq28-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1529/corneal-dystrophy-perceptive-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/1529/corneal-dystrophy-perceptive-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1531/corneodermatoosseous-syndrome
https://rarediseases.info.nih.gov/diseases/1531/corneodermatoosseous-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1532/coronal-synostosis-syndactyly-and-jejunal-atresia
https://rarediseases.info.nih.gov/diseases/1532/coronal-synostosis-syndactyly-and-jejunal-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/15322/frontotemporal-dementia-andor-amyotrophic-lateral-sclerosis-7
https://rarediseases.info.nih.gov/diseases/15322/frontotemporal-dementia-andor-amyotrophic-lateral-sclerosis-7/diagnosis
https://rarediseases.info.nih.gov/diseases/15329/platelet-disorder-familial-with-associated-myeloid-malignancy
https://rarediseases.info.nih.gov/diseases/15329/platelet-disorder-familial-with-associated-myeloid-malignancy/diagnosis
https://rarediseases.info.nih.gov/diseases/1533/coronary-arterial-fistula
https://rarediseases.info.nih.gov/diseases/1533/coronary-arterial-fistula/diagnosis
https://rarediseases.info.nih.gov/diseases/15366/microcephaly-2-primary-autosomal-recessive-with-or-without-cortical-malformations
https://rarediseases.info.nih.gov/diseases/15366/microcephaly-2-primary-autosomal-recessive-with-or-without-cortical-malformations/diagnosis
https://rarediseases.info.nih.gov/diseases/1537/corpus-callosum-agenesis-neuronopathy-syndrome
https://rarediseases.info.nih.gov/diseases/1537/corpus-callosum-agenesis-neuronopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/15376/hypobetalipoproteinemia-familial-2
https://rarediseases.info.nih.gov/diseases/15376/hypobetalipoproteinemia-familial-2/diagnosis
https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries
https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries/diagnosis
https://rarediseases.info.nih.gov/diseases/15441/microcephaly-5-primary-autosomal-recessive
https://rarediseases.info.nih.gov/diseases/15441/microcephaly-5-primary-autosomal-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome
https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome
https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1551/congenitally-short-costocoracoid-ligament
https://rarediseases.info.nih.gov/diseases/1551/congenitally-short-costocoracoid-ligament/diagnosis
https://rarediseases.info.nih.gov/diseases/1553/arthrogryposis-and-ectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/1553/arthrogryposis-and-ectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome
https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/15540/amyotrophic-lateral-sclerosis-10-with-or-without-frontotemporal-dementia
https://rarediseases.info.nih.gov/diseases/15540/amyotrophic-lateral-sclerosis-10-with-or-without-frontotemporal-dementia/diagnosis
https://rarediseases.info.nih.gov/diseases/1555/pelviscapular-dysplasia
https://rarediseases.info.nih.gov/diseases/1555/pelviscapular-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/15556/epilepsy-progressive-myoclonic-1b
https://rarediseases.info.nih.gov/diseases/15556/epilepsy-progressive-myoclonic-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/15578/spherocytosis-type-5
https://rarediseases.info.nih.gov/diseases/15578/spherocytosis-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome
https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease
https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome
https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy
https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/157/hirschsprung-disease-deafness-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/157/hirschsprung-disease-deafness-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome
https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1575/non-syndromic-bilambdoid-and-sagittal-craniosynostosis
https://rarediseases.info.nih.gov/diseases/1575/non-syndromic-bilambdoid-and-sagittal-craniosynostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1578/craniofrontonasal-dysplasia
https://rarediseases.info.nih.gov/diseases/1578/craniofrontonasal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/158/sarcosinemia
https://rarediseases.info.nih.gov/diseases/158/sarcosinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/15804/cutis-laxa-autosomal-recessive-type-ib
https://rarediseases.info.nih.gov/diseases/15804/cutis-laxa-autosomal-recessive-type-ib/diagnosis
https://rarediseases.info.nih.gov/diseases/1581/craniometaphyseal-dysplasia-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/1581/craniometaphyseal-dysplasia-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/1582/craniometaphyseal-dysplasia-autosomal-recessive
https://rarediseases.info.nih.gov/diseases/1582/craniometaphyseal-dysplasia-autosomal-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome
https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/15834/pontocerebellar-hypoplasia-type-1b
https://rarediseases.info.nih.gov/diseases/15834/pontocerebellar-hypoplasia-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/159/scalp-ear-nipple-syndrome
https://rarediseases.info.nih.gov/diseases/159/scalp-ear-nipple-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft
https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/16/ocular-motor-apraxia-cogan-type
https://rarediseases.info.nih.gov/diseases/16/ocular-motor-apraxia-cogan-type/diagnosis
https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome
https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1601/craniosynostosis-philadelphia-type
https://rarediseases.info.nih.gov/diseases/1601/craniosynostosis-philadelphia-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome
https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia
https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/1608/x-linked-creatine-transporter-deficiency
https://rarediseases.info.nih.gov/diseases/1608/x-linked-creatine-transporter-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis
https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/16108/myoclonic-atonic-epilepsy
https://rarediseases.info.nih.gov/diseases/16108/myoclonic-atonic-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/1611/crisponi-syndrome
https://rarediseases.info.nih.gov/diseases/1611/crisponi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1613/familial-exudative-vitreoretinopathy
https://rarediseases.info.nih.gov/diseases/1613/familial-exudative-vitreoretinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1614/cataract-nephropathy-encephalopathy-syndrome
https://rarediseases.info.nih.gov/diseases/1614/cataract-nephropathy-encephalopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16147/developmental-and-epileptic-encephalopathy-34
https://rarediseases.info.nih.gov/diseases/16147/developmental-and-epileptic-encephalopathy-34/diagnosis
https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1
https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly
https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/162/cleft-palate-large-ears-small-head-syndrome
https://rarediseases.info.nih.gov/diseases/162/cleft-palate-large-ears-small-head-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1620/cryptogenic-organizing-pneumonia
https://rarediseases.info.nih.gov/diseases/1620/cryptogenic-organizing-pneumonia/diagnosis
https://rarediseases.info.nih.gov/diseases/16205/developmental-and-epileptic-encephalopathy-46
https://rarediseases.info.nih.gov/diseases/16205/developmental-and-epileptic-encephalopathy-46/diagnosis
https://rarediseases.info.nih.gov/diseases/16225/developmental-and-epileptic-encephalopathy-54
https://rarediseases.info.nih.gov/diseases/16225/developmental-and-epileptic-encephalopathy-54/diagnosis
https://rarediseases.info.nih.gov/diseases/16235/cohen-gibson-syndrome
https://rarediseases.info.nih.gov/diseases/16235/cohen-gibson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1626/currarino-syndrome
https://rarediseases.info.nih.gov/diseases/1626/currarino-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans
https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans/diagnosis
https://rarediseases.info.nih.gov/diseases/1633/cutaneous-photosensitivity-lethal-colitis-syndrome
https://rarediseases.info.nih.gov/diseases/1633/cutaneous-photosensitivity-lethal-colitis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16348/spondyloepimetaphyseal-dysplasia-with-joint-laxity-type-3
https://rarediseases.info.nih.gov/diseases/16348/spondyloepimetaphyseal-dysplasia-with-joint-laxity-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/1638/autosomal-recessive-cutis-laxa-type-2a
https://rarediseases.info.nih.gov/diseases/1638/autosomal-recessive-cutis-laxa-type-2a/diagnosis
https://rarediseases.info.nih.gov/diseases/1639/autosomal-dominant-cutis-laxa
https://rarediseases.info.nih.gov/diseases/1639/autosomal-dominant-cutis-laxa/diagnosis
https://rarediseases.info.nih.gov/diseases/1641/autosomal-recessive-cutis-laxa-type-2b
https://rarediseases.info.nih.gov/diseases/1641/autosomal-recessive-cutis-laxa-type-2b/diagnosis
https://rarediseases.info.nih.gov/diseases/1643/primary-cutis-verticis-gyrata
https://rarediseases.info.nih.gov/diseases/1643/primary-cutis-verticis-gyrata/diagnosis
https://rarediseases.info.nih.gov/diseases/1646/thyrocerebrorenal-syndrome
https://rarediseases.info.nih.gov/diseases/1646/thyrocerebrorenal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16481/methylmalonic-aciduria-due-to-transcobalamin-receptor-defect
https://rarediseases.info.nih.gov/diseases/16481/methylmalonic-aciduria-due-to-transcobalamin-receptor-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/16482/rieger-anomaly
https://rarediseases.info.nih.gov/diseases/16482/rieger-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/16485/axenfeld-anomaly
https://rarediseases.info.nih.gov/diseases/16485/axenfeld-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/16486/autosomal-dominant-progressive-external-ophthalmoplegia
https://rarediseases.info.nih.gov/diseases/16486/autosomal-dominant-progressive-external-ophthalmoplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/16489/complement-component-3-deficiency
https://rarediseases.info.nih.gov/diseases/16489/complement-component-3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16523/glycogen-storage-disease-due-to-glucose-6-phosphatase-deficiency
https://rarediseases.info.nih.gov/diseases/16523/glycogen-storage-disease-due-to-glucose-6-phosphatase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16526/crigler-najjar-syndrome
https://rarediseases.info.nih.gov/diseases/16526/crigler-najjar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16530/primary-hyperoxaluria
https://rarediseases.info.nih.gov/diseases/16530/primary-hyperoxaluria/diagnosis
https://rarediseases.info.nih.gov/diseases/16532/familial-hypoaldosteronism
https://rarediseases.info.nih.gov/diseases/16532/familial-hypoaldosteronism/diagnosis
https://rarediseases.info.nih.gov/diseases/16536/multiminicore-myopathy
https://rarediseases.info.nih.gov/diseases/16536/multiminicore-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/16537/homocystinuria-without-methylmalonic-aciduria
https://rarediseases.info.nih.gov/diseases/16537/homocystinuria-without-methylmalonic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/16539/lcat-deficiency
https://rarediseases.info.nih.gov/diseases/16539/lcat-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16540/omphalocele
https://rarediseases.info.nih.gov/diseases/16540/omphalocele/diagnosis
https://rarediseases.info.nih.gov/diseases/16541/hemolytic-anemia-due-to-glucophosphate-isomerase-deficiency
https://rarediseases.info.nih.gov/diseases/16541/hemolytic-anemia-due-to-glucophosphate-isomerase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16542/porokeratosis-plantaris-palmaris-et-disseminata
https://rarediseases.info.nih.gov/diseases/16542/porokeratosis-plantaris-palmaris-et-disseminata/diagnosis
https://rarediseases.info.nih.gov/diseases/16543/severe-hereditary-thrombophilia-due-to-congenital-protein-s-deficiency
https://rarediseases.info.nih.gov/diseases/16543/severe-hereditary-thrombophilia-due-to-congenital-protein-s-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16544/severe-hereditary-thrombophilia-due-to-congenital-protein-c-deficiency
https://rarediseases.info.nih.gov/diseases/16544/severe-hereditary-thrombophilia-due-to-congenital-protein-c-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16545/pseudohypoaldosteronism-type-1
https://rarediseases.info.nih.gov/diseases/16545/pseudohypoaldosteronism-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/16548/estrogen-resistance-syndrome
https://rarediseases.info.nih.gov/diseases/16548/estrogen-resistance-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16549/encephalopathy-due-to-sulfite-oxidase-deficiency
https://rarediseases.info.nih.gov/diseases/16549/encephalopathy-due-to-sulfite-oxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16550/lown-ganong-levine-syndrome
https://rarediseases.info.nih.gov/diseases/16550/lown-ganong-levine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16552/testicular-regression-syndrome
https://rarediseases.info.nih.gov/diseases/16552/testicular-regression-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16553/alopecia-intellectual-disability-hypergonadotropic-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/16553/alopecia-intellectual-disability-hypergonadotropic-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16554/autosomal-recessive-amelia
https://rarediseases.info.nih.gov/diseases/16554/autosomal-recessive-amelia/diagnosis
https://rarediseases.info.nih.gov/diseases/16555/microlissencephaly
https://rarediseases.info.nih.gov/diseases/16555/microlissencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/16556/sheldon-hall-syndrome
https://rarediseases.info.nih.gov/diseases/16556/sheldon-hall-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16558/x-linked-progressive-cerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/16558/x-linked-progressive-cerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/16559/ataxia-tapetoretinal-degeneration-syndrome
https://rarediseases.info.nih.gov/diseases/16559/ataxia-tapetoretinal-degeneration-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16560/spastic-ataxia-with-congenital-miosis
https://rarediseases.info.nih.gov/diseases/16560/spastic-ataxia-with-congenital-miosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16561/tmem70-related-mitochondrial-encephalo-cardio-myopathy
https://rarediseases.info.nih.gov/diseases/16561/tmem70-related-mitochondrial-encephalo-cardio-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/16562/brachytelephalangy-dysmorphism-kallmann-syndrome
https://rarediseases.info.nih.gov/diseases/16562/brachytelephalangy-dysmorphism-kallmann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16563/hyperkeratosis-hyperpigmentation-syndrome
https://rarediseases.info.nih.gov/diseases/16563/hyperkeratosis-hyperpigmentation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16564/atrial-standstill
https://rarediseases.info.nih.gov/diseases/16564/atrial-standstill/diagnosis
https://rarediseases.info.nih.gov/diseases/16565/chondrodysplasia-disorder-of-sex-development-syndrome
https://rarediseases.info.nih.gov/diseases/16565/chondrodysplasia-disorder-of-sex-development-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16566/atrial-septal-defect-atrioventricular-conduction-defects-syndrome
https://rarediseases.info.nih.gov/diseases/16566/atrial-septal-defect-atrioventricular-conduction-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16567/cooper-jabs-syndrome
https://rarediseases.info.nih.gov/diseases/16567/cooper-jabs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16568/autosomal-recessive-robinow-syndrome
https://rarediseases.info.nih.gov/diseases/16568/autosomal-recessive-robinow-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16569/fatal-infantile-cytochrome-c-oxidase-deficiency
https://rarediseases.info.nih.gov/diseases/16569/fatal-infantile-cytochrome-c-oxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16570/monosomy-13q14
https://rarediseases.info.nih.gov/diseases/16570/monosomy-13q14/diagnosis
https://rarediseases.info.nih.gov/diseases/16571/distal-monosomy-13q
https://rarediseases.info.nih.gov/diseases/16571/distal-monosomy-13q/diagnosis
https://rarediseases.info.nih.gov/diseases/16572/distal-monosomy-15q
https://rarediseases.info.nih.gov/diseases/16572/distal-monosomy-15q/diagnosis
https://rarediseases.info.nih.gov/diseases/16573/3q13-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/16573/3q13-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16574/partial-chromosome-y-deletion
https://rarediseases.info.nih.gov/diseases/16574/partial-chromosome-y-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/16575/dentin-dysplasia
https://rarediseases.info.nih.gov/diseases/16575/dentin-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16576/chronic-diarrhea-with-villous-atrophy
https://rarediseases.info.nih.gov/diseases/16576/chronic-diarrhea-with-villous-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16578/ectodermal-dysplasia-intellectual-disability-central-nervous-system-malformation-syndrome
https://rarediseases.info.nih.gov/diseases/16578/ectodermal-dysplasia-intellectual-disability-central-nervous-system-malformation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16580/diabetic-embryopathy
https://rarediseases.info.nih.gov/diseases/16580/diabetic-embryopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/16581/early-myoclonic-encephalopathy
https://rarediseases.info.nih.gov/diseases/16581/early-myoclonic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/16582/hereditary-gingival-fibromatosis
https://rarediseases.info.nih.gov/diseases/16582/hereditary-gingival-fibromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16585/46xx-ovotesticular-disorder-of-sex-development
https://rarediseases.info.nih.gov/diseases/16585/46xx-ovotesticular-disorder-of-sex-development/diagnosis
https://rarediseases.info.nih.gov/diseases/16586/nodular-neuronal-heterotopia
https://rarediseases.info.nih.gov/diseases/16586/nodular-neuronal-heterotopia/diagnosis
https://rarediseases.info.nih.gov/diseases/16588/primary-hypergonadotropic-hypogonadism-partial-alopecia-syndrome
https://rarediseases.info.nih.gov/diseases/16588/primary-hypergonadotropic-hypogonadism-partial-alopecia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16590/hyposmia-nasal-and-ocular-hypoplasia-hypogonadotropic-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/16590/hyposmia-nasal-and-ocular-hypoplasia-hypogonadotropic-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16591/primary-pulmonary-hypoplasia
https://rarediseases.info.nih.gov/diseases/16591/primary-pulmonary-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16592/congenital-short-bowel-syndrome
https://rarediseases.info.nih.gov/diseases/16592/congenital-short-bowel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16593/absence-deformity-of-leg-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/16593/absence-deformity-of-leg-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16594/kenny-caffey-syndrome
https://rarediseases.info.nih.gov/diseases/16594/kenny-caffey-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16595/larsen-like-osseous-dysplasia-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/16595/larsen-like-osseous-dysplasia-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16596/congenital-laryngeal-web
https://rarediseases.info.nih.gov/diseases/16596/congenital-laryngeal-web/diagnosis
https://rarediseases.info.nih.gov/diseases/16597/laryngeal-abductor-paralysis-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/16597/laryngeal-abductor-paralysis-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16598/macrocephaly-spastic-paraplegia-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/16598/macrocephaly-spastic-paraplegia-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16599/congenital-macroglossia
https://rarediseases.info.nih.gov/diseases/16599/congenital-macroglossia/diagnosis
https://rarediseases.info.nih.gov/diseases/166/schizencephaly
https://rarediseases.info.nih.gov/diseases/166/schizencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/16600/mucocutaneous-venous-malformations
https://rarediseases.info.nih.gov/diseases/16600/mucocutaneous-venous-malformations/diagnosis
https://rarediseases.info.nih.gov/diseases/16602/upper-limb-defect-eye-and-ear-abnormalities-syndrome
https://rarediseases.info.nih.gov/diseases/16602/upper-limb-defect-eye-and-ear-abnormalities-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16606/oculo-palato-cerebral-syndrome
https://rarediseases.info.nih.gov/diseases/16606/oculo-palato-cerebral-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16607/oculotrichodysplasia
https://rarediseases.info.nih.gov/diseases/16607/oculotrichodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16608/omodysplasia
https://rarediseases.info.nih.gov/diseases/16608/omodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16609/familial-recurrent-peripheral-facial-palsy
https://rarediseases.info.nih.gov/diseases/16609/familial-recurrent-peripheral-facial-palsy/diagnosis
https://rarediseases.info.nih.gov/diseases/16610/young-onset-parkinson-disease
https://rarediseases.info.nih.gov/diseases/16610/young-onset-parkinson-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/16611/pelvis-shoulder-dysplasia
https://rarediseases.info.nih.gov/diseases/16611/pelvis-shoulder-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16612/short-stature-valvular-heart-disease-characteristic-facies-syndrome
https://rarediseases.info.nih.gov/diseases/16612/short-stature-valvular-heart-disease-characteristic-facies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16613/phosphoenolpyruvate-carboxykinase-deficiency
https://rarediseases.info.nih.gov/diseases/16613/phosphoenolpyruvate-carboxykinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16614/postaxial-polydactyly-dental-and-vertebral-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/16614/postaxial-polydactyly-dental-and-vertebral-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16616/leukocyte-adhesion-deficiency
https://rarediseases.info.nih.gov/diseases/16616/leukocyte-adhesion-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16617/46xx-disorder-of-sex-development-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/16617/46xx-disorder-of-sex-development-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16618/blepharophimosis-intellectual-disability-syndrome-sbbys-type
https://rarediseases.info.nih.gov/diseases/16618/blepharophimosis-intellectual-disability-syndrome-sbbys-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16621/alpha-n-acetylgalactosaminidase-deficiency
https://rarediseases.info.nih.gov/diseases/16621/alpha-n-acetylgalactosaminidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16622/x-linked-spasticity-intellectual-disability-epilepsy-syndrome
https://rarediseases.info.nih.gov/diseases/16622/x-linked-spasticity-intellectual-disability-epilepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16626/non-syndromic-metopic-craniosynostosis
https://rarediseases.info.nih.gov/diseases/16626/non-syndromic-metopic-craniosynostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16627/truncus-arteriosus
https://rarediseases.info.nih.gov/diseases/16627/truncus-arteriosus/diagnosis
https://rarediseases.info.nih.gov/diseases/16628/hereditary-xanthinuria
https://rarediseases.info.nih.gov/diseases/16628/hereditary-xanthinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/16630/neuroectodermal-melanolysosomal-disease
https://rarediseases.info.nih.gov/diseases/16630/neuroectodermal-melanolysosomal-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/16631/glutamate-cysteine-ligase-deficiency
https://rarediseases.info.nih.gov/diseases/16631/glutamate-cysteine-ligase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16632/t-b-severe-combined-immunodeficiency-due-to-jak3-deficiency
https://rarediseases.info.nih.gov/diseases/16632/t-b-severe-combined-immunodeficiency-due-to-jak3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16635/hemolytic-anemia-due-to-pyrimidine-5-nucleotidase-deficiency
https://rarediseases.info.nih.gov/diseases/16635/hemolytic-anemia-due-to-pyrimidine-5-nucleotidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16636/lysosomal-acid-phosphatase-deficiency
https://rarediseases.info.nih.gov/diseases/16636/lysosomal-acid-phosphatase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16637/nanophthalmos
https://rarediseases.info.nih.gov/diseases/16637/nanophthalmos/diagnosis
https://rarediseases.info.nih.gov/diseases/16639/combined-deficiency-of-factor-v-and-factor-viii
https://rarediseases.info.nih.gov/diseases/16639/combined-deficiency-of-factor-v-and-factor-viii/diagnosis
https://rarediseases.info.nih.gov/diseases/16640/distal-monosomy-1q
https://rarediseases.info.nih.gov/diseases/16640/distal-monosomy-1q/diagnosis
https://rarediseases.info.nih.gov/diseases/16641/episodic-ataxia-type-1
https://rarediseases.info.nih.gov/diseases/16641/episodic-ataxia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/16643/hereditary-myopathy-with-lactic-acidosis-due-to-iscu-deficiency
https://rarediseases.info.nih.gov/diseases/16643/hereditary-myopathy-with-lactic-acidosis-due-to-iscu-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16644/proximal-renal-tubular-acidosis
https://rarediseases.info.nih.gov/diseases/16644/proximal-renal-tubular-acidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16645/congenital-cataracts-facial-dysmorphism-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/16645/congenital-cataracts-facial-dysmorphism-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16646/lipodystrophy-intellectual-disability-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/16646/lipodystrophy-intellectual-disability-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16647/craniolenticulosutural-dysplasia
https://rarediseases.info.nih.gov/diseases/16647/craniolenticulosutural-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16648/branchiogenic-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/16648/branchiogenic-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16649/schpf-schulz-passarge-syndrome
https://rarediseases.info.nih.gov/diseases/16649/schpf-schulz-passarge-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16650/familial-short-qt-syndrome
https://rarediseases.info.nih.gov/diseases/16650/familial-short-qt-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16651/torsade-de-pointes-syndrome-with-short-coupling-interval
https://rarediseases.info.nih.gov/diseases/16651/torsade-de-pointes-syndrome-with-short-coupling-interval/diagnosis
https://rarediseases.info.nih.gov/diseases/16652/braddock-syndrome
https://rarediseases.info.nih.gov/diseases/16652/braddock-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16653/craniosynostosis-intracranial-calcifications-syndrome
https://rarediseases.info.nih.gov/diseases/16653/craniosynostosis-intracranial-calcifications-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16654/ulnarfibula-ray-defect-brachydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/16654/ulnarfibula-ray-defect-brachydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16655/retinitis-punctata-albescens
https://rarediseases.info.nih.gov/diseases/16655/retinitis-punctata-albescens/diagnosis
https://rarediseases.info.nih.gov/diseases/16656/paroxysmal-dystonic-choreathetosis-with-episodic-ataxia-and-spasticity
https://rarediseases.info.nih.gov/diseases/16656/paroxysmal-dystonic-choreathetosis-with-episodic-ataxia-and-spasticity/diagnosis
https://rarediseases.info.nih.gov/diseases/16658/arthrogryposis-anterior-horn-cell-disease-syndrome
https://rarediseases.info.nih.gov/diseases/16658/arthrogryposis-anterior-horn-cell-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1666/hydrocephaly-tall-stature-joint-laxity-syndrome
https://rarediseases.info.nih.gov/diseases/1666/hydrocephaly-tall-stature-joint-laxity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16662/enlarged-parietal-foramina
https://rarediseases.info.nih.gov/diseases/16662/enlarged-parietal-foramina/diagnosis
https://rarediseases.info.nih.gov/diseases/16664/idiopathic-bronchiectasis
https://rarediseases.info.nih.gov/diseases/16664/idiopathic-bronchiectasis/diagnosis
https://rarediseases.info.nih.gov/diseases/16666/distal-myopathy-with-posterior-leg-and-anterior-hand-involvement
https://rarediseases.info.nih.gov/diseases/16666/distal-myopathy-with-posterior-leg-and-anterior-hand-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/16667/childhood-absence-epilepsy
https://rarediseases.info.nih.gov/diseases/16667/childhood-absence-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/16668/ovarian-hyperstimulation-syndrome
https://rarediseases.info.nih.gov/diseases/16668/ovarian-hyperstimulation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16669/beta-ureidopropionase-deficiency
https://rarediseases.info.nih.gov/diseases/16669/beta-ureidopropionase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16670/permanent-neonatal-diabetes-mellitus-pancreatic-and-cerebellar-agenesis-syndrome
https://rarediseases.info.nih.gov/diseases/16670/permanent-neonatal-diabetes-mellitus-pancreatic-and-cerebellar-agenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16671/isolated-focal-cortical-dysplasia
https://rarediseases.info.nih.gov/diseases/16671/isolated-focal-cortical-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16672/arthrogryposis-severe-scoliosis-syndrome
https://rarediseases.info.nih.gov/diseases/16672/arthrogryposis-severe-scoliosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16673/congenital-pseudoarthrosis-of-the-clavicle
https://rarediseases.info.nih.gov/diseases/16673/congenital-pseudoarthrosis-of-the-clavicle/diagnosis
https://rarediseases.info.nih.gov/diseases/16674/diaphanospondylodysostosis
https://rarediseases.info.nih.gov/diseases/16674/diaphanospondylodysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16675/hyaluronidase-deficiency
https://rarediseases.info.nih.gov/diseases/16675/hyaluronidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16676/thrombocytopenia-with-congenital-dyserythropoietic-anemia
https://rarediseases.info.nih.gov/diseases/16676/thrombocytopenia-with-congenital-dyserythropoietic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/16679/odonto-tricho-ungual-digito-palmar-syndrome
https://rarediseases.info.nih.gov/diseases/16679/odonto-tricho-ungual-digito-palmar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16680/pure-hair-and-nail-ectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/16680/pure-hair-and-nail-ectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16681/anhidrotic-ectodermal-dysplasia-immunodeficiency-osteopetrosis-lymphedema-syndrome
https://rarediseases.info.nih.gov/diseases/16681/anhidrotic-ectodermal-dysplasia-immunodeficiency-osteopetrosis-lymphedema-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16682/anonychia-with-flexural-pigmentation
https://rarediseases.info.nih.gov/diseases/16682/anonychia-with-flexural-pigmentation/diagnosis
https://rarediseases.info.nih.gov/diseases/16683/low-phospholipid-associated-cholelithiasis
https://rarediseases.info.nih.gov/diseases/16683/low-phospholipid-associated-cholelithiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/16684/bosley-salih-alorainy-syndrome
https://rarediseases.info.nih.gov/diseases/16684/bosley-salih-alorainy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16686/split-hand-split-foot-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/16686/split-hand-split-foot-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16687/radio-ulnar-synostosis-amegakaryocytic-thrombocytopenia-syndrome
https://rarediseases.info.nih.gov/diseases/16687/radio-ulnar-synostosis-amegakaryocytic-thrombocytopenia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16688/familial-thrombocytosis
https://rarediseases.info.nih.gov/diseases/16688/familial-thrombocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1669/dandy-walker-malformation-postaxial-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/1669/dandy-walker-malformation-postaxial-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16693/retinal-arterial-tortuosity
https://rarediseases.info.nih.gov/diseases/16693/retinal-arterial-tortuosity/diagnosis
https://rarediseases.info.nih.gov/diseases/16694/cystoid-macular-dystrophy
https://rarediseases.info.nih.gov/diseases/16694/cystoid-macular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16695/primary-immunodeficiency-with-natural-killer-cell-deficiency-and-adrenal-insufficiency
https://rarediseases.info.nih.gov/diseases/16695/primary-immunodeficiency-with-natural-killer-cell-deficiency-and-adrenal-insufficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16697/grange-syndrome
https://rarediseases.info.nih.gov/diseases/16697/grange-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16698/eiken-syndrome
https://rarediseases.info.nih.gov/diseases/16698/eiken-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16699/neonatal-diabetes-congenital-hypothyroidism-congenital-glaucoma-hepatic-fibrosis-polycystic-kidneys-syndrome
https://rarediseases.info.nih.gov/diseases/16699/neonatal-diabetes-congenital-hypothyroidism-congenital-glaucoma-hepatic-fibrosis-polycystic-kidneys-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16701/dend-syndrome
https://rarediseases.info.nih.gov/diseases/16701/dend-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16702/episodic-ataxia-type-3
https://rarediseases.info.nih.gov/diseases/16702/episodic-ataxia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/16703/episodic-ataxia-type-4
https://rarediseases.info.nih.gov/diseases/16703/episodic-ataxia-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/16704/generalized-epilepsy-paroxysmal-dyskinesia-syndrome
https://rarediseases.info.nih.gov/diseases/16704/generalized-epilepsy-paroxysmal-dyskinesia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16705/hereditary-painful-callosities
https://rarediseases.info.nih.gov/diseases/16705/hereditary-painful-callosities/diagnosis
https://rarediseases.info.nih.gov/diseases/16707/acrokeratosis-verruciformis-of-hopf
https://rarediseases.info.nih.gov/diseases/16707/acrokeratosis-verruciformis-of-hopf/diagnosis
https://rarediseases.info.nih.gov/diseases/16708/2-aminoadipic-2-oxoadipic-aciduria
https://rarediseases.info.nih.gov/diseases/16708/2-aminoadipic-2-oxoadipic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/16709/seizures-intellectual-disability-due-to-hydroxylysinuria-syndrome
https://rarediseases.info.nih.gov/diseases/16709/seizures-intellectual-disability-due-to-hydroxylysinuria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1671/multinodular-goiter-cystic-kidney-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/1671/multinodular-goiter-cystic-kidney-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16710/hypoxanthine-guanine-phosphoribosyltransferase-partial-deficiency
https://rarediseases.info.nih.gov/diseases/16710/hypoxanthine-guanine-phosphoribosyltransferase-partial-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16711/glycogen-storage-disease-due-to-liver-and-muscle-phosphorylase-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/16711/glycogen-storage-disease-due-to-liver-and-muscle-phosphorylase-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16713/congenital-bile-acid-synthesis-defect-type-3
https://rarediseases.info.nih.gov/diseases/16713/congenital-bile-acid-synthesis-defect-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/16715/chondrodysplasia-punctata-tibial-metacarpal-type
https://rarediseases.info.nih.gov/diseases/16715/chondrodysplasia-punctata-tibial-metacarpal-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16716/chondrodysplasia-punctata-toriello-type
https://rarediseases.info.nih.gov/diseases/16716/chondrodysplasia-punctata-toriello-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16719/keratoderma-hereditarium-mutilans-with-ichthyosis
https://rarediseases.info.nih.gov/diseases/16719/keratoderma-hereditarium-mutilans-with-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16720/recessive-dystrophic-epidermolysis-bullosa-inversa
https://rarediseases.info.nih.gov/diseases/16720/recessive-dystrophic-epidermolysis-bullosa-inversa/diagnosis
https://rarediseases.info.nih.gov/diseases/16722/oculocutaneous-albinism-type-4
https://rarediseases.info.nih.gov/diseases/16722/oculocutaneous-albinism-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/16725/hypotonia-failure-to-thrive-microcephaly-syndrome
https://rarediseases.info.nih.gov/diseases/16725/hypotonia-failure-to-thrive-microcephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16726/autosomal-recessive-hyperinsulinism-due-to-sur1-deficiency
https://rarediseases.info.nih.gov/diseases/16726/autosomal-recessive-hyperinsulinism-due-to-sur1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16727/autosomal-recessive-hyperinsulinism-due-to-kir62-deficiency
https://rarediseases.info.nih.gov/diseases/16727/autosomal-recessive-hyperinsulinism-due-to-kir62-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16728/glomuvenous-malformation
https://rarediseases.info.nih.gov/diseases/16728/glomuvenous-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/16729/enteric-anendocrinosis
https://rarediseases.info.nih.gov/diseases/16729/enteric-anendocrinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16730/senior-boichis-syndrome
https://rarediseases.info.nih.gov/diseases/16730/senior-boichis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16731/hereditary-thermosensitive-neuropathy
https://rarediseases.info.nih.gov/diseases/16731/hereditary-thermosensitive-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/16733/palmoplantar-keratoderma-xx-sex-reversal-predisposition-to-squamous-cell-carcinoma-syndrome
https://rarediseases.info.nih.gov/diseases/16733/palmoplantar-keratoderma-xx-sex-reversal-predisposition-to-squamous-cell-carcinoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16734/bothnia-retinal-dystrophy
https://rarediseases.info.nih.gov/diseases/16734/bothnia-retinal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16735/familial-digital-arthropathy-brachydactyly
https://rarediseases.info.nih.gov/diseases/16735/familial-digital-arthropathy-brachydactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/16736/microcephalic-osteodysplastic-dysplasia-saul-wilson-type
https://rarediseases.info.nih.gov/diseases/16736/microcephalic-osteodysplastic-dysplasia-saul-wilson-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16737/craniometadiaphyseal-dysplasia-wormian-bone-type
https://rarediseases.info.nih.gov/diseases/16737/craniometadiaphyseal-dysplasia-wormian-bone-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16738/metaphyseal-dysplasia-braun-tinschert-type
https://rarediseases.info.nih.gov/diseases/16738/metaphyseal-dysplasia-braun-tinschert-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16739/calvarial-doughnut-lesions-bone-fragility-syndrome
https://rarediseases.info.nih.gov/diseases/16739/calvarial-doughnut-lesions-bone-fragility-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16740/spondylo-ocular-syndrome
https://rarediseases.info.nih.gov/diseases/16740/spondylo-ocular-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16741/genochondromatosis-type-1
https://rarediseases.info.nih.gov/diseases/16741/genochondromatosis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/16742/x-linked-intellectual-disability-armfield-type
https://rarediseases.info.nih.gov/diseases/16742/x-linked-intellectual-disability-armfield-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16743/x-linked-intellectual-disability-cantagrel-type
https://rarediseases.info.nih.gov/diseases/16743/x-linked-intellectual-disability-cantagrel-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16744/kdm5c-related-syndromic-x-linked-intellectual-disability
https://rarediseases.info.nih.gov/diseases/16744/kdm5c-related-syndromic-x-linked-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/16745/x-linked-intellectual-disability-cubitus-valgus-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/16745/x-linked-intellectual-disability-cubitus-valgus-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16746/bresek-syndrome
https://rarediseases.info.nih.gov/diseases/16746/bresek-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16747/x-linked-intellectual-disability-wilson-type
https://rarediseases.info.nih.gov/diseases/16747/x-linked-intellectual-disability-wilson-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16748/x-linked-epilepsy-learning-disabilities-behavior-disorders-syndrome
https://rarediseases.info.nih.gov/diseases/16748/x-linked-epilepsy-learning-disabilities-behavior-disorders-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16750/deafness-intellectual-disability-syndrome-martin-probst-type
https://rarediseases.info.nih.gov/diseases/16750/deafness-intellectual-disability-syndrome-martin-probst-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16751/x-linked-intellectual-disability-shrimpton-type
https://rarediseases.info.nih.gov/diseases/16751/x-linked-intellectual-disability-shrimpton-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16753/fried-syndrome
https://rarediseases.info.nih.gov/diseases/16753/fried-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16754/attrv30m-amyloidosis
https://rarediseases.info.nih.gov/diseases/16754/attrv30m-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16755/attrv122i-amyloidosis
https://rarediseases.info.nih.gov/diseases/16755/attrv122i-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16756/x-linked-reticulate-pigmentary-disorder
https://rarediseases.info.nih.gov/diseases/16756/x-linked-reticulate-pigmentary-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/16757/helicoid-peripapillary-chorioretinal-degeneration
https://rarediseases.info.nih.gov/diseases/16757/helicoid-peripapillary-chorioretinal-degeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/16758/benign-adult-familial-myoclonic-epilepsy
https://rarediseases.info.nih.gov/diseases/16758/benign-adult-familial-myoclonic-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/16759/aplasia-of-lacrimal-and-salivary-glands
https://rarediseases.info.nih.gov/diseases/16759/aplasia-of-lacrimal-and-salivary-glands/diagnosis
https://rarediseases.info.nih.gov/diseases/16760/hemolytic-anemia-due-to-adenylate-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/16760/hemolytic-anemia-due-to-adenylate-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16761/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome
https://rarediseases.info.nih.gov/diseases/16761/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16762/atrichia-with-papular-lesions
https://rarediseases.info.nih.gov/diseases/16762/atrichia-with-papular-lesions/diagnosis
https://rarediseases.info.nih.gov/diseases/16763/lissencephaly-type-3-metacarpal-bone-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/16763/lissencephaly-type-3-metacarpal-bone-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16766/keratosis-palmaris-et-plantaris-clinodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/16766/keratosis-palmaris-et-plantaris-clinodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16767/hereditary-palmoplantar-keratoderma-gamborg-nielsen-type
https://rarediseases.info.nih.gov/diseases/16767/hereditary-palmoplantar-keratoderma-gamborg-nielsen-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16768/tritanopia
https://rarediseases.info.nih.gov/diseases/16768/tritanopia/diagnosis
https://rarediseases.info.nih.gov/diseases/16769/terminal-osseous-dysplasia-pigmentary-defects-syndrome
https://rarediseases.info.nih.gov/diseases/16769/terminal-osseous-dysplasia-pigmentary-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16770/vacuolar-myopathy-with-sarcoplasmic-reticulum-protein-aggregates
https://rarediseases.info.nih.gov/diseases/16770/vacuolar-myopathy-with-sarcoplasmic-reticulum-protein-aggregates/diagnosis
https://rarediseases.info.nih.gov/diseases/16772/autosomal-dominant-progressive-nephropathy-with-hypertension
https://rarediseases.info.nih.gov/diseases/16772/autosomal-dominant-progressive-nephropathy-with-hypertension/diagnosis
https://rarediseases.info.nih.gov/diseases/16778/autosomal-recessive-generalized-epidermolysis-bullosa-simplex
https://rarediseases.info.nih.gov/diseases/16778/autosomal-recessive-generalized-epidermolysis-bullosa-simplex/diagnosis
https://rarediseases.info.nih.gov/diseases/16779/dystrophic-epidermolysis-bullosa-pruriginosa
https://rarediseases.info.nih.gov/diseases/16779/dystrophic-epidermolysis-bullosa-pruriginosa/diagnosis
https://rarediseases.info.nih.gov/diseases/16781/autosomal-dominant-hypophosphatemic-rickets
https://rarediseases.info.nih.gov/diseases/16781/autosomal-dominant-hypophosphatemic-rickets/diagnosis
https://rarediseases.info.nih.gov/diseases/16782/x-linked-cone-dysfunction-syndrome-with-myopia
https://rarediseases.info.nih.gov/diseases/16782/x-linked-cone-dysfunction-syndrome-with-myopia/diagnosis
https://rarediseases.info.nih.gov/diseases/16783/primary-immunodeficiency-syndrome-due-to-lamtor2-deficiency
https://rarediseases.info.nih.gov/diseases/16783/primary-immunodeficiency-syndrome-due-to-lamtor2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16785/familial-pseudohyperkalemia
https://rarediseases.info.nih.gov/diseases/16785/familial-pseudohyperkalemia/diagnosis
https://rarediseases.info.nih.gov/diseases/16786/charcot-marie-tooth-disease-deafness-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/16786/charcot-marie-tooth-disease-deafness-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16787/hereditary-motor-and-sensory-neuropathy-type-6
https://rarediseases.info.nih.gov/diseases/16787/hereditary-motor-and-sensory-neuropathy-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/16789/hypotrichosis-simplex-of-the-scalp
https://rarediseases.info.nih.gov/diseases/16789/hypotrichosis-simplex-of-the-scalp/diagnosis
https://rarediseases.info.nih.gov/diseases/16793/hypothyroidism-due-to-tsh-receptor-mutations
https://rarediseases.info.nih.gov/diseases/16793/hypothyroidism-due-to-tsh-receptor-mutations/diagnosis
https://rarediseases.info.nih.gov/diseases/16795/cardiomyopathy-hypotonia-lactic-acidosis-syndrome
https://rarediseases.info.nih.gov/diseases/16795/cardiomyopathy-hypotonia-lactic-acidosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16796/body-skin-hyperlaxity-due-to-vitamin-k-dependent-coagulation-factor-deficiency
https://rarediseases.info.nih.gov/diseases/16796/body-skin-hyperlaxity-due-to-vitamin-k-dependent-coagulation-factor-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16797/isolated-cryptophthalmia
https://rarediseases.info.nih.gov/diseases/16797/isolated-cryptophthalmia/diagnosis
https://rarediseases.info.nih.gov/diseases/16799/isolated-congenital-alacrima
https://rarediseases.info.nih.gov/diseases/16799/isolated-congenital-alacrima/diagnosis
https://rarediseases.info.nih.gov/diseases/1680/symbrachydactyly-of-hands-and-feet
https://rarediseases.info.nih.gov/diseases/1680/symbrachydactyly-of-hands-and-feet/diagnosis
https://rarediseases.info.nih.gov/diseases/16800/isolated-congenital-sclerocornea
https://rarediseases.info.nih.gov/diseases/16800/isolated-congenital-sclerocornea/diagnosis
https://rarediseases.info.nih.gov/diseases/16801/early-onset-non-syndromic-cataract
https://rarediseases.info.nih.gov/diseases/16801/early-onset-non-syndromic-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/16802/macular-coloboma-cleft-palate-hallux-valgus-syndrome
https://rarediseases.info.nih.gov/diseases/16802/macular-coloboma-cleft-palate-hallux-valgus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16803/persistent-hyperplastic-primary-vitreous
https://rarediseases.info.nih.gov/diseases/16803/persistent-hyperplastic-primary-vitreous/diagnosis
https://rarediseases.info.nih.gov/diseases/16805/hypocalcemic-vitamin-d-resistant-rickets
https://rarediseases.info.nih.gov/diseases/16805/hypocalcemic-vitamin-d-resistant-rickets/diagnosis
https://rarediseases.info.nih.gov/diseases/16806/fragile-x-associated-tremorataxia-syndrome
https://rarediseases.info.nih.gov/diseases/16806/fragile-x-associated-tremorataxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16810/crouzon-syndrome-acanthosis-nigricans-syndrome
https://rarediseases.info.nih.gov/diseases/16810/crouzon-syndrome-acanthosis-nigricans-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16811/cloverleaf-skull-multiple-congenital-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/16811/cloverleaf-skull-multiple-congenital-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16812/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis
https://rarediseases.info.nih.gov/diseases/16812/mild-spondyloepiphyseal-dysplasia-due-to-col2a1-mutation-with-early-onset-osteoarthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/16813/spondyloepimetaphyseal-dysplasia-papss2-type
https://rarediseases.info.nih.gov/diseases/16813/spondyloepimetaphyseal-dysplasia-papss2-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16814/spondyloepiphyseal-dysplasia-kimberley-type
https://rarediseases.info.nih.gov/diseases/16814/spondyloepiphyseal-dysplasia-kimberley-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16816/brachyolmia-maroteaux-type
https://rarediseases.info.nih.gov/diseases/16816/brachyolmia-maroteaux-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16817/postaxial-polydactyly-type-a
https://rarediseases.info.nih.gov/diseases/16817/postaxial-polydactyly-type-a/diagnosis
https://rarediseases.info.nih.gov/diseases/16818/postaxial-polydactyly-type-b
https://rarediseases.info.nih.gov/diseases/16818/postaxial-polydactyly-type-b/diagnosis
https://rarediseases.info.nih.gov/diseases/16819/spondyloepimetaphyseal-dysplasia-irapa-type
https://rarediseases.info.nih.gov/diseases/16819/spondyloepimetaphyseal-dysplasia-irapa-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16820/genochondromatosis-type-2
https://rarediseases.info.nih.gov/diseases/16820/genochondromatosis-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/16821/brachydactyly-syndactyly-zhao-type
https://rarediseases.info.nih.gov/diseases/16821/brachydactyly-syndactyly-zhao-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16834/x-linked-intellectual-disability-hedera-type
https://rarediseases.info.nih.gov/diseases/16834/x-linked-intellectual-disability-hedera-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16835/anotia
https://rarediseases.info.nih.gov/diseases/16835/anotia/diagnosis
https://rarediseases.info.nih.gov/diseases/16836/cerebellar-ataxia-cayman-type
https://rarediseases.info.nih.gov/diseases/16836/cerebellar-ataxia-cayman-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16838/lissencephaly-due-to-lis1-mutation
https://rarediseases.info.nih.gov/diseases/16838/lissencephaly-due-to-lis1-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/16839/familial-adrenal-hypoplasia-with-absent-pituitary-luteinizing-hormone
https://rarediseases.info.nih.gov/diseases/16839/familial-adrenal-hypoplasia-with-absent-pituitary-luteinizing-hormone/diagnosis
https://rarediseases.info.nih.gov/diseases/1684/deafness-ear-malformation-facial-palsy-syndrome
https://rarediseases.info.nih.gov/diseases/1684/deafness-ear-malformation-facial-palsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16840/non-syndromic-posterior-hypospadias
https://rarediseases.info.nih.gov/diseases/16840/non-syndromic-posterior-hypospadias/diagnosis
https://rarediseases.info.nih.gov/diseases/16841/thyroid-ectopia
https://rarediseases.info.nih.gov/diseases/16841/thyroid-ectopia/diagnosis
https://rarediseases.info.nih.gov/diseases/16842/athyreosis
https://rarediseases.info.nih.gov/diseases/16842/athyreosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16843/familial-thyroid-dyshormonogenesis
https://rarediseases.info.nih.gov/diseases/16843/familial-thyroid-dyshormonogenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/16844/thyroid-hemiagenesis
https://rarediseases.info.nih.gov/diseases/16844/thyroid-hemiagenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/16845/distal-monosomy-6p
https://rarediseases.info.nih.gov/diseases/16845/distal-monosomy-6p/diagnosis
https://rarediseases.info.nih.gov/diseases/16847/monosomy-13q34
https://rarediseases.info.nih.gov/diseases/16847/monosomy-13q34/diagnosis
https://rarediseases.info.nih.gov/diseases/16849/maternal-uniparental-disomy-of-chromosome-20
https://rarediseases.info.nih.gov/diseases/16849/maternal-uniparental-disomy-of-chromosome-20/diagnosis
https://rarediseases.info.nih.gov/diseases/1685/doors-syndrome
https://rarediseases.info.nih.gov/diseases/1685/doors-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16853/familial-papillary-thyroid-carcinoma-with-renal-papillary-neoplasia
https://rarediseases.info.nih.gov/diseases/16853/familial-papillary-thyroid-carcinoma-with-renal-papillary-neoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16858/syndromic-orbital-border-hypoplasia
https://rarediseases.info.nih.gov/diseases/16858/syndromic-orbital-border-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome
https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16862/alpha-thalassemia-intellectual-disability-syndrome-linked-to-chromosome-16
https://rarediseases.info.nih.gov/diseases/16862/alpha-thalassemia-intellectual-disability-syndrome-linked-to-chromosome-16/diagnosis
https://rarediseases.info.nih.gov/diseases/16867/southeast-asian-ovalocytosis
https://rarediseases.info.nih.gov/diseases/16867/southeast-asian-ovalocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16870/desminopathy
https://rarediseases.info.nih.gov/diseases/16870/desminopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/16874/huntington-disease-like-2
https://rarediseases.info.nih.gov/diseases/16874/huntington-disease-like-2/diagnosis
https://rarediseases.info.nih.gov/diseases/16875/coloboma-of-choroid-and-retina
https://rarediseases.info.nih.gov/diseases/16875/coloboma-of-choroid-and-retina/diagnosis
https://rarediseases.info.nih.gov/diseases/16877/lisch-epithelial-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/16877/lisch-epithelial-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16878/subepithelial-mucinous-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/16878/subepithelial-mucinous-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16879/fleck-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/16879/fleck-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1688/deafness-epiphyseal-dysplasia-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/1688/deafness-epiphyseal-dysplasia-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16880/posterior-amorphous-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/16880/posterior-amorphous-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16881/central-cloudy-dystrophy-of-franois
https://rarediseases.info.nih.gov/diseases/16881/central-cloudy-dystrophy-of-franois/diagnosis
https://rarediseases.info.nih.gov/diseases/16882/posterior-polymorphous-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/16882/posterior-polymorphous-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16883/juvenile-glaucoma
https://rarediseases.info.nih.gov/diseases/16883/juvenile-glaucoma/diagnosis
https://rarediseases.info.nih.gov/diseases/16890/butterfly-shaped-pigment-dystrophy
https://rarediseases.info.nih.gov/diseases/16890/butterfly-shaped-pigment-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16897/6-phosphogluconate-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/16897/6-phosphogluconate-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16898/lymphedema-posterior-choanal-atresia-syndrome
https://rarediseases.info.nih.gov/diseases/16898/lymphedema-posterior-choanal-atresia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia
https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16900/kandori-fleck-retina
https://rarediseases.info.nih.gov/diseases/16900/kandori-fleck-retina/diagnosis
https://rarediseases.info.nih.gov/diseases/16902/metaphyseal-chondromatosis-with-d-2-hydroxyglutaric-aciduria
https://rarediseases.info.nih.gov/diseases/16902/metaphyseal-chondromatosis-with-d-2-hydroxyglutaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/16903/frieds-tooth-and-nail-syndrome
https://rarediseases.info.nih.gov/diseases/16903/frieds-tooth-and-nail-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16904/myotonia-fluctuans
https://rarediseases.info.nih.gov/diseases/16904/myotonia-fluctuans/diagnosis
https://rarediseases.info.nih.gov/diseases/16905/myotonia-permanens
https://rarediseases.info.nih.gov/diseases/16905/myotonia-permanens/diagnosis
https://rarediseases.info.nih.gov/diseases/16908/oligodontia
https://rarediseases.info.nih.gov/diseases/16908/oligodontia/diagnosis
https://rarediseases.info.nih.gov/diseases/16909/haddad-syndrome
https://rarediseases.info.nih.gov/diseases/16909/haddad-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16910/oculootodental-syndrome
https://rarediseases.info.nih.gov/diseases/16910/oculootodental-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16911/peho-like-syndrome
https://rarediseases.info.nih.gov/diseases/16911/peho-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16913/familial-gestational-hyperthyroidism
https://rarediseases.info.nih.gov/diseases/16913/familial-gestational-hyperthyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/16914/resistance-to-thyrotropin-releasing-hormone-syndrome
https://rarediseases.info.nih.gov/diseases/16914/resistance-to-thyrotropin-releasing-hormone-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16916/genetic-recurrent-myoglobinuria
https://rarediseases.info.nih.gov/diseases/16916/genetic-recurrent-myoglobinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/16917/autosomal-dominant-myoglobinuria
https://rarediseases.info.nih.gov/diseases/16917/autosomal-dominant-myoglobinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/16923/familial-isolated-hyperparathyroidism
https://rarediseases.info.nih.gov/diseases/16923/familial-isolated-hyperparathyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/16925/autosomal-dominant-charcot-marie-tooth-disease-type-2a2
https://rarediseases.info.nih.gov/diseases/16925/autosomal-dominant-charcot-marie-tooth-disease-type-2a2/diagnosis
https://rarediseases.info.nih.gov/diseases/16937/porphyria-due-to-ala-dehydratase-deficiency
https://rarediseases.info.nih.gov/diseases/16937/porphyria-due-to-ala-dehydratase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16938/bathing-suit-ichthyosis
https://rarediseases.info.nih.gov/diseases/16938/bathing-suit-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/16939/autosomal-recessive-spastic-paraplegia-type-21
https://rarediseases.info.nih.gov/diseases/16939/autosomal-recessive-spastic-paraplegia-type-21/diagnosis
https://rarediseases.info.nih.gov/diseases/16940/autosomal-recessive-spastic-paraplegia-type-27
https://rarediseases.info.nih.gov/diseases/16940/autosomal-recessive-spastic-paraplegia-type-27/diagnosis
https://rarediseases.info.nih.gov/diseases/16941/autosomal-recessive-spastic-paraplegia-type-28
https://rarediseases.info.nih.gov/diseases/16941/autosomal-recessive-spastic-paraplegia-type-28/diagnosis
https://rarediseases.info.nih.gov/diseases/16942/autosomal-spastic-paraplegia-type-30
https://rarediseases.info.nih.gov/diseases/16942/autosomal-spastic-paraplegia-type-30/diagnosis
https://rarediseases.info.nih.gov/diseases/16943/congenital-stromal-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/16943/congenital-stromal-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/16944/familial-isolated-congenital-asplenia
https://rarediseases.info.nih.gov/diseases/16944/familial-isolated-congenital-asplenia/diagnosis
https://rarediseases.info.nih.gov/diseases/16945/congenital-sodium-diarrhea
https://rarediseases.info.nih.gov/diseases/16945/congenital-sodium-diarrhea/diagnosis
https://rarediseases.info.nih.gov/diseases/16947/lung-fibrosis-immunodeficiency-46xx-gonadal-dysgenesis-syndrome
https://rarediseases.info.nih.gov/diseases/16947/lung-fibrosis-immunodeficiency-46xx-gonadal-dysgenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16949/hepatoencephalopathy-due-to-combined-oxidative-phosphorylation-defect-type-1
https://rarediseases.info.nih.gov/diseases/16949/hepatoencephalopathy-due-to-combined-oxidative-phosphorylation-defect-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/1695/lowe-kohn-cohen-syndrome
https://rarediseases.info.nih.gov/diseases/1695/lowe-kohn-cohen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16950/hypotonia-with-lactic-acidemia-and-hyperammonemia
https://rarediseases.info.nih.gov/diseases/16950/hypotonia-with-lactic-acidemia-and-hyperammonemia/diagnosis
https://rarediseases.info.nih.gov/diseases/16952/17q112-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/16952/17q112-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16953/distal-hereditary-motor-neuropathy-type-1
https://rarediseases.info.nih.gov/diseases/16953/distal-hereditary-motor-neuropathy-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/16954/distal-hereditary-motor-neuropathy-type-2
https://rarediseases.info.nih.gov/diseases/16954/distal-hereditary-motor-neuropathy-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/16955/distal-hereditary-motor-neuropathy-type-5
https://rarediseases.info.nih.gov/diseases/16955/distal-hereditary-motor-neuropathy-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/16956/distal-spinal-muscular-atrophy-type-3
https://rarediseases.info.nih.gov/diseases/16956/distal-spinal-muscular-atrophy-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/16957/x-linked-distal-spinal-muscular-atrophy-type-3
https://rarediseases.info.nih.gov/diseases/16957/x-linked-distal-spinal-muscular-atrophy-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/16958/hereditary-sensory-and-autonomic-neuropathy-type-1b
https://rarediseases.info.nih.gov/diseases/16958/hereditary-sensory-and-autonomic-neuropathy-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/16959/mutilating-hereditary-sensory-neuropathy-with-spastic-paraplegia
https://rarediseases.info.nih.gov/diseases/16959/mutilating-hereditary-sensory-neuropathy-with-spastic-paraplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-ii
https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/16960/distal-hereditary-motor-neuropathy-type-7
https://rarediseases.info.nih.gov/diseases/16960/distal-hereditary-motor-neuropathy-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/16961/primary-intraosseous-venous-malformation
https://rarediseases.info.nih.gov/diseases/16961/primary-intraosseous-venous-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/16962/autosomal-dominant-slowed-nerve-conduction-velocity
https://rarediseases.info.nih.gov/diseases/16962/autosomal-dominant-slowed-nerve-conduction-velocity/diagnosis
https://rarediseases.info.nih.gov/diseases/16964/short-stature-due-to-primary-acid-labile-subunit-deficiency
https://rarediseases.info.nih.gov/diseases/16964/short-stature-due-to-primary-acid-labile-subunit-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/16965/autosomal-dominant-macrothrombocytopenia
https://rarediseases.info.nih.gov/diseases/16965/autosomal-dominant-macrothrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/16966/bilateral-microtia-deafness-cleft-palate-syndrome
https://rarediseases.info.nih.gov/diseases/16966/bilateral-microtia-deafness-cleft-palate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16967/palmoplantar-keratoderma-nagashima-type
https://rarediseases.info.nih.gov/diseases/16967/palmoplantar-keratoderma-nagashima-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1697/deafness-autosomal-recessive-1a
https://rarediseases.info.nih.gov/diseases/1697/deafness-autosomal-recessive-1a/diagnosis
https://rarediseases.info.nih.gov/diseases/16971/hemifacial-hyperplasia
https://rarediseases.info.nih.gov/diseases/16971/hemifacial-hyperplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/16972/isolated-congenital-hypoglossiaaglossia
https://rarediseases.info.nih.gov/diseases/16972/isolated-congenital-hypoglossiaaglossia/diagnosis
https://rarediseases.info.nih.gov/diseases/16973/paramedian-nasal-cleft
https://rarediseases.info.nih.gov/diseases/16973/paramedian-nasal-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/16974/tessier-number-4-facial-cleft
https://rarediseases.info.nih.gov/diseases/16974/tessier-number-4-facial-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/16975/tessier-number-7-facial-cleft
https://rarediseases.info.nih.gov/diseases/16975/tessier-number-7-facial-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/16976/cleft-lip-and-alveolus
https://rarediseases.info.nih.gov/diseases/16976/cleft-lip-and-alveolus/diagnosis
https://rarediseases.info.nih.gov/diseases/16977/hereditary-hypophosphatemic-rickets-with-hypercalciuria
https://rarediseases.info.nih.gov/diseases/16977/hereditary-hypophosphatemic-rickets-with-hypercalciuria/diagnosis
https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome
https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16981/hereditary-mixed-polyposis-syndrome
https://rarediseases.info.nih.gov/diseases/16981/hereditary-mixed-polyposis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16982/serrated-polyposis-syndrome
https://rarediseases.info.nih.gov/diseases/16982/serrated-polyposis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16983/cold-induced-sweating-syndrome
https://rarediseases.info.nih.gov/diseases/16983/cold-induced-sweating-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16984/craniorhiny
https://rarediseases.info.nih.gov/diseases/16984/craniorhiny/diagnosis
https://rarediseases.info.nih.gov/diseases/16985/huntington-disease-like-1
https://rarediseases.info.nih.gov/diseases/16985/huntington-disease-like-1/diagnosis
https://rarediseases.info.nih.gov/diseases/16986/huntington-disease-like-3
https://rarediseases.info.nih.gov/diseases/16986/huntington-disease-like-3/diagnosis
https://rarediseases.info.nih.gov/diseases/16987/ane-syndrome
https://rarediseases.info.nih.gov/diseases/16987/ane-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16988/oculoauricular-syndrome-schorderet-type
https://rarediseases.info.nih.gov/diseases/16988/oculoauricular-syndrome-schorderet-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16990/epidermolysis-bullosa-simplex-with-circinate-migratory-erythema
https://rarediseases.info.nih.gov/diseases/16990/epidermolysis-bullosa-simplex-with-circinate-migratory-erythema/diagnosis
https://rarediseases.info.nih.gov/diseases/16991/epidermolysis-bullosa-simplex-with-pyloric-atresia
https://rarediseases.info.nih.gov/diseases/16991/epidermolysis-bullosa-simplex-with-pyloric-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/16993/spondyloepiphyseal-dysplasia-craniosynostosis-cleft-palate-cataracts-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/16993/spondyloepiphyseal-dysplasia-craniosynostosis-cleft-palate-cataracts-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/16994/spondyloepiphyseal-dysplasia-reardon-type
https://rarediseases.info.nih.gov/diseases/16994/spondyloepiphyseal-dysplasia-reardon-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16995/spondyloepiphyseal-dysplasia-tarda-kohn-type
https://rarediseases.info.nih.gov/diseases/16995/spondyloepiphyseal-dysplasia-tarda-kohn-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16996/spondyloepiphyseal-dysplasia-macdermot-type
https://rarediseases.info.nih.gov/diseases/16996/spondyloepiphyseal-dysplasia-macdermot-type/diagnosis
https://rarediseases.info.nih.gov/diseases/16997/cntnap2-related-developmental-and-epileptic-encephalopathy
https://rarediseases.info.nih.gov/diseases/16997/cntnap2-related-developmental-and-epileptic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/16999/2p21-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/16999/2p21-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17/arachnoid-cyst
https://rarediseases.info.nih.gov/diseases/17/arachnoid-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/17000/action-myoclonus-renal-failure-syndrome
https://rarediseases.info.nih.gov/diseases/17000/action-myoclonus-renal-failure-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17002/rolandic-epilepsy-speech-dyspraxia-syndrome
https://rarediseases.info.nih.gov/diseases/17002/rolandic-epilepsy-speech-dyspraxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17003/rolandic-epilepsy-paroxysmal-exercise-induced-dystonia-writers-cramp-syndrome
https://rarediseases.info.nih.gov/diseases/17003/rolandic-epilepsy-paroxysmal-exercise-induced-dystonia-writers-cramp-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17004/peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-hirschsprung-disease
https://rarediseases.info.nih.gov/diseases/17004/peripheral-demyelinating-neuropathy-central-dysmyelinating-leukodystrophy-waardenburg-syndrome-hirschsprung-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17005/x-linked-intellectual-disability-nascimento-type
https://rarediseases.info.nih.gov/diseases/17005/x-linked-intellectual-disability-nascimento-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17006/x-linked-cerebral-cerebellar-coloboma-syndrome
https://rarediseases.info.nih.gov/diseases/17006/x-linked-cerebral-cerebellar-coloboma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17007/x-linked-dominant-chondrodysplasia-chassaing-lacombe-type
https://rarediseases.info.nih.gov/diseases/17007/x-linked-dominant-chondrodysplasia-chassaing-lacombe-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17008/x-linked-intellectual-disability-van-esch-type
https://rarediseases.info.nih.gov/diseases/17008/x-linked-intellectual-disability-van-esch-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17009/x-linked-intellectual-disability-craniofacioskeletal-syndrome
https://rarediseases.info.nih.gov/diseases/17009/x-linked-intellectual-disability-craniofacioskeletal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17010/hyperekplexia-epilepsy-syndrome
https://rarediseases.info.nih.gov/diseases/17010/hyperekplexia-epilepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17012/multiple-epiphyseal-dysplasia-beighton-type
https://rarediseases.info.nih.gov/diseases/17012/multiple-epiphyseal-dysplasia-beighton-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17013/multiple-epiphyseal-dysplasia-lowry-type
https://rarediseases.info.nih.gov/diseases/17013/multiple-epiphyseal-dysplasia-lowry-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17014/multiple-epiphyseal-dysplasia-al-gazali-type
https://rarediseases.info.nih.gov/diseases/17014/multiple-epiphyseal-dysplasia-al-gazali-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17015/multiple-epiphyseal-dysplasia-with-severe-proximal-femoral-dysplasia
https://rarediseases.info.nih.gov/diseases/17015/multiple-epiphyseal-dysplasia-with-severe-proximal-femoral-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17016/multiple-epiphyseal-dysplasia-with-miniepiphyses
https://rarediseases.info.nih.gov/diseases/17016/multiple-epiphyseal-dysplasia-with-miniepiphyses/diagnosis
https://rarediseases.info.nih.gov/diseases/17017/brachydactyly-short-stature-retinitis-pigmentosa-syndrome
https://rarediseases.info.nih.gov/diseases/17017/brachydactyly-short-stature-retinitis-pigmentosa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17018/metaphyseal-chondrodysplasia-kaitila-type
https://rarediseases.info.nih.gov/diseases/17018/metaphyseal-chondrodysplasia-kaitila-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17026/fastkd2-related-infantile-mitochondrial-encephalomyopathy
https://rarediseases.info.nih.gov/diseases/17026/fastkd2-related-infantile-mitochondrial-encephalomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17027/isolated-osteopoikilosis
https://rarediseases.info.nih.gov/diseases/17027/isolated-osteopoikilosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17028/hot-water-reflex-epilepsy
https://rarediseases.info.nih.gov/diseases/17028/hot-water-reflex-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/17030/spondyloepimetaphyseal-dysplasia-abnormal-dentition-syndrome
https://rarediseases.info.nih.gov/diseases/17030/spondyloepimetaphyseal-dysplasia-abnormal-dentition-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17031/congenital-neuronal-ceroid-lipofuscinosis
https://rarediseases.info.nih.gov/diseases/17031/congenital-neuronal-ceroid-lipofuscinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17032/late-infantile-neuronal-ceroid-lipofuscinosis
https://rarediseases.info.nih.gov/diseases/17032/late-infantile-neuronal-ceroid-lipofuscinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17033/46xy-disorder-of-sex-development-adrenal-insufficiency-due-to-cyp11a1-deficiency
https://rarediseases.info.nih.gov/diseases/17033/46xy-disorder-of-sex-development-adrenal-insufficiency-due-to-cyp11a1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17034/46xy-gonadal-dysgenesis-motor-and-sensory-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/17034/46xy-gonadal-dysgenesis-motor-and-sensory-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17035/fatal-mitochondrial-disease-due-to-combined-oxidative-phosphorylation-defect-type-3
https://rarediseases.info.nih.gov/diseases/17035/fatal-mitochondrial-disease-due-to-combined-oxidative-phosphorylation-defect-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/17036/hereditary-cryohydrocytosis-with-reduced-stomatin
https://rarediseases.info.nih.gov/diseases/17036/hereditary-cryohydrocytosis-with-reduced-stomatin/diagnosis
https://rarediseases.info.nih.gov/diseases/17038/congenital-enteropathy-due-to-enteropeptidase-deficiency
https://rarediseases.info.nih.gov/diseases/17038/congenital-enteropathy-due-to-enteropeptidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17039/seborrhea-like-dermatitis-with-psoriasiform-elements
https://rarediseases.info.nih.gov/diseases/17039/seborrhea-like-dermatitis-with-psoriasiform-elements/diagnosis
https://rarediseases.info.nih.gov/diseases/17042/generalized-basaloid-follicular-hamartoma-syndrome
https://rarediseases.info.nih.gov/diseases/17042/generalized-basaloid-follicular-hamartoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17044/clapo-syndrome
https://rarediseases.info.nih.gov/diseases/17044/clapo-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17045/cernunnos-xlf-deficiency
https://rarediseases.info.nih.gov/diseases/17045/cernunnos-xlf-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17046/combined-immunodeficiency-due-to-cd3gamma-deficiency
https://rarediseases.info.nih.gov/diseases/17046/combined-immunodeficiency-due-to-cd3gamma-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17048/combined-immunodeficiency-due-to-crac-channel-dysfunction
https://rarediseases.info.nih.gov/diseases/17048/combined-immunodeficiency-due-to-crac-channel-dysfunction/diagnosis
https://rarediseases.info.nih.gov/diseases/17049/immunodeficiency-due-to-cd25-deficiency
https://rarediseases.info.nih.gov/diseases/17049/immunodeficiency-due-to-cd25-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1705/deafness-vitiligo-achalasia-syndrome
https://rarediseases.info.nih.gov/diseases/1705/deafness-vitiligo-achalasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17050/immunodeficiency-due-to-a-late-component-of-complement-deficiency
https://rarediseases.info.nih.gov/diseases/17050/immunodeficiency-due-to-a-late-component-of-complement-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17051/t-b-severe-combined-immunodeficiency-due-to-il-7ralpha-deficiency
https://rarediseases.info.nih.gov/diseases/17051/t-b-severe-combined-immunodeficiency-due-to-il-7ralpha-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17052/t-b-severe-combined-immunodeficiency-due-to-cd45-deficiency
https://rarediseases.info.nih.gov/diseases/17052/t-b-severe-combined-immunodeficiency-due-to-cd45-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17053/t-b-severe-combined-immunodeficiency-due-to-cd3deltacd3epsiloncd3zeta
https://rarediseases.info.nih.gov/diseases/17053/t-b-severe-combined-immunodeficiency-due-to-cd3deltacd3epsiloncd3zeta/diagnosis
https://rarediseases.info.nih.gov/diseases/17054/primary-cd59-deficiency
https://rarediseases.info.nih.gov/diseases/17054/primary-cd59-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17055/recurrent-neisseria-infections-due-to-factor-d-deficiency
https://rarediseases.info.nih.gov/diseases/17055/recurrent-neisseria-infections-due-to-factor-d-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17062/muscle-filaminopathy
https://rarediseases.info.nih.gov/diseases/17062/muscle-filaminopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17063/x-linked-spastic-paraplegia-type-34
https://rarediseases.info.nih.gov/diseases/17063/x-linked-spastic-paraplegia-type-34/diagnosis
https://rarediseases.info.nih.gov/diseases/17064/autosomal-dominant-spastic-paraplegia-type-37
https://rarediseases.info.nih.gov/diseases/17064/autosomal-dominant-spastic-paraplegia-type-37/diagnosis
https://rarediseases.info.nih.gov/diseases/17065/autosomal-dominant-spastic-paraplegia-type-38
https://rarediseases.info.nih.gov/diseases/17065/autosomal-dominant-spastic-paraplegia-type-38/diagnosis
https://rarediseases.info.nih.gov/diseases/17066/lissencephaly-due-to-tuba1a-mutation
https://rarediseases.info.nih.gov/diseases/17066/lissencephaly-due-to-tuba1a-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/17067/metabolic-myopathy-due-to-lactate-transporter-defect
https://rarediseases.info.nih.gov/diseases/17067/metabolic-myopathy-due-to-lactate-transporter-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/17068/short-stature-delayed-bone-age-due-to-thyroid-hormone-metabolism-deficiency
https://rarediseases.info.nih.gov/diseases/17068/short-stature-delayed-bone-age-due-to-thyroid-hormone-metabolism-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17069/cutis-laxa-marfanoid-syndrome
https://rarediseases.info.nih.gov/diseases/17069/cutis-laxa-marfanoid-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17070/blindness-scoliosis-arachnodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/17070/blindness-scoliosis-arachnodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17071/polyneuropathy-hearing-loss-ataxia-retinitis-pigmentosa-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/17071/polyneuropathy-hearing-loss-ataxia-retinitis-pigmentosa-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17072/mednik-syndrome
https://rarediseases.info.nih.gov/diseases/17072/mednik-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17073/autosomal-dominant-spastic-paraplegia-type-42
https://rarediseases.info.nih.gov/diseases/17073/autosomal-dominant-spastic-paraplegia-type-42/diagnosis
https://rarediseases.info.nih.gov/diseases/17079/reticulate-acropigmentation-of-kitamura
https://rarediseases.info.nih.gov/diseases/17079/reticulate-acropigmentation-of-kitamura/diagnosis
https://rarediseases.info.nih.gov/diseases/1708/deafness-autosomal-dominant-23
https://rarediseases.info.nih.gov/diseases/1708/deafness-autosomal-dominant-23/diagnosis
https://rarediseases.info.nih.gov/diseases/17080/distal-myopathy-with-anterior-tibial-onset
https://rarediseases.info.nih.gov/diseases/17080/distal-myopathy-with-anterior-tibial-onset/diagnosis
https://rarediseases.info.nih.gov/diseases/17081/x-linked-myopathy-with-postural-muscle-atrophy
https://rarediseases.info.nih.gov/diseases/17081/x-linked-myopathy-with-postural-muscle-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17086/recurrent-infections-associated-with-rare-immunoglobulin-isotypes-deficiency
https://rarediseases.info.nih.gov/diseases/17086/recurrent-infections-associated-with-rare-immunoglobulin-isotypes-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17089/familial-angiolipomatosis
https://rarediseases.info.nih.gov/diseases/17089/familial-angiolipomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17091/isolated-cleft-lip
https://rarediseases.info.nih.gov/diseases/17091/isolated-cleft-lip/diagnosis
https://rarediseases.info.nih.gov/diseases/17092/cleft-lippalate
https://rarediseases.info.nih.gov/diseases/17092/cleft-lippalate/diagnosis
https://rarediseases.info.nih.gov/diseases/17093/familial-clubfoot-with-or-without-associated-lower-limb-anomalies
https://rarediseases.info.nih.gov/diseases/17093/familial-clubfoot-with-or-without-associated-lower-limb-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/17094/endocrine-cerebro-osteodysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/17094/endocrine-cerebro-osteodysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17095/pancreatic-insufficiency-anemia-hyperostosis-syndrome
https://rarediseases.info.nih.gov/diseases/17095/pancreatic-insufficiency-anemia-hyperostosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17096/muscular-dystrophy-selcen-type
https://rarediseases.info.nih.gov/diseases/17096/muscular-dystrophy-selcen-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17098/immunodeficiency-with-factor-i-anomaly
https://rarediseases.info.nih.gov/diseases/17098/immunodeficiency-with-factor-i-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/17099/immunodeficiency-with-factor-h-anomaly
https://rarediseases.info.nih.gov/diseases/17099/immunodeficiency-with-factor-h-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/17101/autosomal-recessive-lower-motor-neuron-disease-with-childhood-onset
https://rarediseases.info.nih.gov/diseases/17101/autosomal-recessive-lower-motor-neuron-disease-with-childhood-onset/diagnosis
https://rarediseases.info.nih.gov/diseases/17102/autosomal-dominant-adult-onset-proximal-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/17102/autosomal-dominant-adult-onset-proximal-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17103/severe-neonatal-onset-encephalopathy-with-microcephaly
https://rarediseases.info.nih.gov/diseases/17103/severe-neonatal-onset-encephalopathy-with-microcephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/17104/autosomal-dominant-rhegmatogenous-retinal-detachment
https://rarediseases.info.nih.gov/diseases/17104/autosomal-dominant-rhegmatogenous-retinal-detachment/diagnosis
https://rarediseases.info.nih.gov/diseases/17107/episodic-ataxia-type-6
https://rarediseases.info.nih.gov/diseases/17107/episodic-ataxia-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/17108/episodic-ataxia-type-7
https://rarediseases.info.nih.gov/diseases/17108/episodic-ataxia-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/17109/inherited-congenital-spastic-tetraplegia
https://rarediseases.info.nih.gov/diseases/17109/inherited-congenital-spastic-tetraplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/17110/lethal-polymalformative-syndrome-boissel-type
https://rarediseases.info.nih.gov/diseases/17110/lethal-polymalformative-syndrome-boissel-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17111/congenital-lethal-myopathy-compton-north-type
https://rarediseases.info.nih.gov/diseases/17111/congenital-lethal-myopathy-compton-north-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17112/macrocephaly-intellectual-disability-autism-syndrome
https://rarediseases.info.nih.gov/diseases/17112/macrocephaly-intellectual-disability-autism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17113/episodic-ataxia-type-5
https://rarediseases.info.nih.gov/diseases/17113/episodic-ataxia-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/17116/microcephaly-facio-cardio-skeletal-syndrome-hadziselimovic-type
https://rarediseases.info.nih.gov/diseases/17116/microcephaly-facio-cardio-skeletal-syndrome-hadziselimovic-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17117/isolated-congenital-digital-clubbing
https://rarediseases.info.nih.gov/diseases/17117/isolated-congenital-digital-clubbing/diagnosis
https://rarediseases.info.nih.gov/diseases/17120/rin2-syndrome
https://rarediseases.info.nih.gov/diseases/17120/rin2-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17121/17q2131-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/17121/17q2131-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17122/17p133-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/17122/17p133-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17123/progressive-polyneuropathy-with-bilateral-striatal-necrosis
https://rarediseases.info.nih.gov/diseases/17123/progressive-polyneuropathy-with-bilateral-striatal-necrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17124/hereditary-hypotrichosis-with-recurrent-skin-vesicles
https://rarediseases.info.nih.gov/diseases/17124/hereditary-hypotrichosis-with-recurrent-skin-vesicles/diagnosis
https://rarediseases.info.nih.gov/diseases/17125/hereditary-thrombophilia-due-to-congenital-histidine-rich-poly-l-glycoprotein-deficiency
https://rarediseases.info.nih.gov/diseases/17125/hereditary-thrombophilia-due-to-congenital-histidine-rich-poly-l-glycoprotein-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17126/neonatal-acute-respiratory-distress-due-to-sp-b-deficiency
https://rarediseases.info.nih.gov/diseases/17126/neonatal-acute-respiratory-distress-due-to-sp-b-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17127/chronic-respiratory-distress-with-surfactant-metabolism-deficiency
https://rarediseases.info.nih.gov/diseases/17127/chronic-respiratory-distress-with-surfactant-metabolism-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17128/sensorineural-deafness-with-dilated-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/17128/sensorineural-deafness-with-dilated-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17129/familial-isolated-arrhythmogenic-right-ventricular-dysplasia
https://rarediseases.info.nih.gov/diseases/17129/familial-isolated-arrhythmogenic-right-ventricular-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17130/xeroderma-pigmentosum-cockayne-syndrome-complex
https://rarediseases.info.nih.gov/diseases/17130/xeroderma-pigmentosum-cockayne-syndrome-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/17132/bleeding-diathesis-due-to-thromboxane-synthesis-deficiency
https://rarediseases.info.nih.gov/diseases/17132/bleeding-diathesis-due-to-thromboxane-synthesis-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17136/hereditary-sclerosing-poikiloderma-weary-type
https://rarediseases.info.nih.gov/diseases/17136/hereditary-sclerosing-poikiloderma-weary-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17138/fowler-vasculopaty
https://rarediseases.info.nih.gov/diseases/17138/fowler-vasculopaty/diagnosis
https://rarediseases.info.nih.gov/diseases/17139/combined-immunodeficiency-with-faciooculoskeletal-anomalies
https://rarediseases.info.nih.gov/diseases/17139/combined-immunodeficiency-with-faciooculoskeletal-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/17140/cutis-laxa-with-severe-pulmonary-gastrointestinal-and-urinary-anomalies
https://rarediseases.info.nih.gov/diseases/17140/cutis-laxa-with-severe-pulmonary-gastrointestinal-and-urinary-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/17141/familial-infantile-bilateral-striatal-necrosis
https://rarediseases.info.nih.gov/diseases/17141/familial-infantile-bilateral-striatal-necrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17142/hereditary-breast-cancer
https://rarediseases.info.nih.gov/diseases/17142/hereditary-breast-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/17143/autosomal-recessive-optic-atrophy-opa7-type
https://rarediseases.info.nih.gov/diseases/17143/autosomal-recessive-optic-atrophy-opa7-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17144/severe-combined-immunodeficiency-due-to-coro1a-deficiency
https://rarediseases.info.nih.gov/diseases/17144/severe-combined-immunodeficiency-due-to-coro1a-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17145/progressive-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-syndrome
https://rarediseases.info.nih.gov/diseases/17145/progressive-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17146/autosomal-dominant-striatal-neurodegeneration
https://rarediseases.info.nih.gov/diseases/17146/autosomal-dominant-striatal-neurodegeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/17147/autosomal-dominant-charcot-marie-tooth-disease-type-2m
https://rarediseases.info.nih.gov/diseases/17147/autosomal-dominant-charcot-marie-tooth-disease-type-2m/diagnosis
https://rarediseases.info.nih.gov/diseases/17148/patent-ductus-arteriosus-bicuspid-aortic-valve-hand-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17148/patent-ductus-arteriosus-bicuspid-aortic-valve-hand-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17153/charcot-marie-tooth-disease-type-2b5
https://rarediseases.info.nih.gov/diseases/17153/charcot-marie-tooth-disease-type-2b5/diagnosis
https://rarediseases.info.nih.gov/diseases/17154/spondylo-megaepiphyseal-metaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/17154/spondylo-megaepiphyseal-metaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17155/isolated-agammaglobulinemia
https://rarediseases.info.nih.gov/diseases/17155/isolated-agammaglobulinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17156/ehlers-danlososteogenesis-imperfecta-syndrome
https://rarediseases.info.nih.gov/diseases/17156/ehlers-danlososteogenesis-imperfecta-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17157/erythema-palmare-hereditarium
https://rarediseases.info.nih.gov/diseases/17157/erythema-palmare-hereditarium/diagnosis
https://rarediseases.info.nih.gov/diseases/17158/familial-generalized-lentiginosis
https://rarediseases.info.nih.gov/diseases/17158/familial-generalized-lentiginosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17161/familial-cerebral-saccular-aneurysm
https://rarediseases.info.nih.gov/diseases/17161/familial-cerebral-saccular-aneurysm/diagnosis
https://rarediseases.info.nih.gov/diseases/17165/delta-beta-thalassemia
https://rarediseases.info.nih.gov/diseases/17165/delta-beta-thalassemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17166/beta-thalassemia-x-linked-thrombocytopenia-syndrome
https://rarediseases.info.nih.gov/diseases/17166/beta-thalassemia-x-linked-thrombocytopenia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17167/alpha-thalassemia-myelodysplastic-syndrome
https://rarediseases.info.nih.gov/diseases/17167/alpha-thalassemia-myelodysplastic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17171/severe-x-linked-mitochondrial-encephalomyopathy
https://rarediseases.info.nih.gov/diseases/17171/severe-x-linked-mitochondrial-encephalomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17172/15q11q13-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/17172/15q11q13-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17175/atypical-hypotonia-cystinuria-syndrome
https://rarediseases.info.nih.gov/diseases/17175/atypical-hypotonia-cystinuria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17176/chuvash-erythrocytosis
https://rarediseases.info.nih.gov/diseases/17176/chuvash-erythrocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17180/mammary-digital-nail-syndrome
https://rarediseases.info.nih.gov/diseases/17180/mammary-digital-nail-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17181/4q21-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17181/4q21-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17184/nijmegen-breakage-syndrome-like-disorder
https://rarediseases.info.nih.gov/diseases/17184/nijmegen-breakage-syndrome-like-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/17185/dimethylglycine-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/17185/dimethylglycine-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17188/hyperphosphatasia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17188/hyperphosphatasia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17195/mllerian-aplasia-and-hyperandrogenism
https://rarediseases.info.nih.gov/diseases/17195/mllerian-aplasia-and-hyperandrogenism/diagnosis
https://rarediseases.info.nih.gov/diseases/17196/juvenile-cataract-microcornea-renal-glucosuria-syndrome
https://rarediseases.info.nih.gov/diseases/17196/juvenile-cataract-microcornea-renal-glucosuria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17198/ectodermal-dysplasia-syndactyly-syndrome
https://rarediseases.info.nih.gov/diseases/17198/ectodermal-dysplasia-syndactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/172/macrocephaly-short-stature-paraplegia-syndrome
https://rarediseases.info.nih.gov/diseases/172/macrocephaly-short-stature-paraplegia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17200/occult-macular-dystrophy
https://rarediseases.info.nih.gov/diseases/17200/occult-macular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17201/nlrp12-associated-hereditary-periodic-fever-syndrome
https://rarediseases.info.nih.gov/diseases/17201/nlrp12-associated-hereditary-periodic-fever-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17205/microphthalmia-retinitis-pigmentosa-foveoschisis-optic-disc-drusen-syndrome
https://rarediseases.info.nih.gov/diseases/17205/microphthalmia-retinitis-pigmentosa-foveoschisis-optic-disc-drusen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17206/autosomal-dominant-spastic-ataxia-type-1
https://rarediseases.info.nih.gov/diseases/17206/autosomal-dominant-spastic-ataxia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/17207/parietal-foramina-with-clavicular-hypoplasia
https://rarediseases.info.nih.gov/diseases/17207/parietal-foramina-with-clavicular-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17208/pigmented-paravenous-retinochoroidal-atrophy
https://rarediseases.info.nih.gov/diseases/17208/pigmented-paravenous-retinochoroidal-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17209/ataxia-telangiectasia-like-disorder
https://rarediseases.info.nih.gov/diseases/17209/ataxia-telangiectasia-like-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/17210/ck-syndrome
https://rarediseases.info.nih.gov/diseases/17210/ck-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17211/46xy-partial-gonadal-dysgenesis
https://rarediseases.info.nih.gov/diseases/17211/46xy-partial-gonadal-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/17212/distal-arthrogryposis-type-10
https://rarediseases.info.nih.gov/diseases/17212/distal-arthrogryposis-type-10/diagnosis
https://rarediseases.info.nih.gov/diseases/17213/hyperzincemia-and-hypercalprotectinemia
https://rarediseases.info.nih.gov/diseases/17213/hyperzincemia-and-hypercalprotectinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17217/constitutional-mismatch-repair-deficiency-syndrome
https://rarediseases.info.nih.gov/diseases/17217/constitutional-mismatch-repair-deficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17218/distal-7q1123-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17218/distal-7q1123-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17219/kagami-ogata-syndrome
https://rarediseases.info.nih.gov/diseases/17219/kagami-ogata-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1722/erythrokeratoderma-en-cocardes
https://rarediseases.info.nih.gov/diseases/1722/erythrokeratoderma-en-cocardes/diagnosis
https://rarediseases.info.nih.gov/diseases/17226/lethal-infantile-mitochondrial-myopathy
https://rarediseases.info.nih.gov/diseases/17226/lethal-infantile-mitochondrial-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17227/mitochondrial-myopathy-with-reversible-cytochrome-c-oxidase-deficiency
https://rarediseases.info.nih.gov/diseases/17227/mitochondrial-myopathy-with-reversible-cytochrome-c-oxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17229/spinocerebellar-ataxia-with-epilepsy
https://rarediseases.info.nih.gov/diseases/17229/spinocerebellar-ataxia-with-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/17230/deafness-encephaloneuropathy-obesity-valvulopathy-syndrome
https://rarediseases.info.nih.gov/diseases/17230/deafness-encephaloneuropathy-obesity-valvulopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17231/renal-tubulopathy-encephalopathy-liver-failure-syndrome
https://rarediseases.info.nih.gov/diseases/17231/renal-tubulopathy-encephalopathy-liver-failure-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17232/combined-oxidative-phosphorylation-defect-type-2
https://rarediseases.info.nih.gov/diseases/17232/combined-oxidative-phosphorylation-defect-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/17233/combined-oxidative-phosphorylation-defect-type-4
https://rarediseases.info.nih.gov/diseases/17233/combined-oxidative-phosphorylation-defect-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/17234/combined-oxidative-phosphorylation-defect-type-7
https://rarediseases.info.nih.gov/diseases/17234/combined-oxidative-phosphorylation-defect-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/17235/adult-onset-autosomal-recessive-sideroblastic-anemia
https://rarediseases.info.nih.gov/diseases/17235/adult-onset-autosomal-recessive-sideroblastic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17240/autosomal-recessive-sideroblastic-anemia
https://rarediseases.info.nih.gov/diseases/17240/autosomal-recessive-sideroblastic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17241/14q112-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17241/14q112-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17243/16p112p122-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17243/16p112p122-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17244/distal-16p112-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17244/distal-16p112-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17245/distal-22q112-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17245/distal-22q112-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17246/xp21-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/17246/xp21-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17247/xq273q28-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/17247/xq273q28-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17254/glycogen-storage-disease-with-severe-cardiomyopathy-due-to-glycogenin-deficiency
https://rarediseases.info.nih.gov/diseases/17254/glycogen-storage-disease-with-severe-cardiomyopathy-due-to-glycogenin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17255/mrcs-syndrome
https://rarediseases.info.nih.gov/diseases/17255/mrcs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17256/hyperinsulinism-due-to-insr-deficiency
https://rarediseases.info.nih.gov/diseases/17256/hyperinsulinism-due-to-insr-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17257/acute-necrotizing-encephalopathy-of-childhood
https://rarediseases.info.nih.gov/diseases/17257/acute-necrotizing-encephalopathy-of-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/17261/glycogen-storage-disease-due-to-liver-phosphorylase-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/17261/glycogen-storage-disease-due-to-liver-phosphorylase-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17262/ras-associated-autoimmune-leukoproliferative-disease
https://rarediseases.info.nih.gov/diseases/17262/ras-associated-autoimmune-leukoproliferative-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17269/bilateral-polymicrogyria
https://rarediseases.info.nih.gov/diseases/17269/bilateral-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification
https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification/diagnosis
https://rarediseases.info.nih.gov/diseases/17273/frontotemporal-dementia-with-motor-neuron-disease
https://rarediseases.info.nih.gov/diseases/17273/frontotemporal-dementia-with-motor-neuron-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17275/multiple-endocrine-neoplasia-type-4
https://rarediseases.info.nih.gov/diseases/17275/multiple-endocrine-neoplasia-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/17276/spinocerebellar-ataxia-type-32
https://rarediseases.info.nih.gov/diseases/17276/spinocerebellar-ataxia-type-32/diagnosis
https://rarediseases.info.nih.gov/diseases/17279/hyperbiliverdinemia
https://rarediseases.info.nih.gov/diseases/17279/hyperbiliverdinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17280/10q223q233-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17280/10q223q233-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17281/ogden-syndrome
https://rarediseases.info.nih.gov/diseases/17281/ogden-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17282/lower-motor-neuron-syndrome-with-late-adult-onset
https://rarediseases.info.nih.gov/diseases/17282/lower-motor-neuron-syndrome-with-late-adult-onset/diagnosis
https://rarediseases.info.nih.gov/diseases/17283/autosomal-dominant-hyperinsulinism-due-to-sur1-deficiency
https://rarediseases.info.nih.gov/diseases/17283/autosomal-dominant-hyperinsulinism-due-to-sur1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17284/autosomal-dominant-hyperinsulinism-due-to-kir62-deficiency
https://rarediseases.info.nih.gov/diseases/17284/autosomal-dominant-hyperinsulinism-due-to-kir62-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17285/diazoxide-resistant-focal-hyperinsulinism-due-to-sur1-deficiency
https://rarediseases.info.nih.gov/diseases/17285/diazoxide-resistant-focal-hyperinsulinism-due-to-sur1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17286/diazoxide-resistant-focal-hyperinsulinism-due-to-kir62-deficiency
https://rarediseases.info.nih.gov/diseases/17286/diazoxide-resistant-focal-hyperinsulinism-due-to-kir62-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17287/hereditary-neutrophilia
https://rarediseases.info.nih.gov/diseases/17287/hereditary-neutrophilia/diagnosis
https://rarediseases.info.nih.gov/diseases/17288/severe-combined-immunodeficiency-due-to-lck-deficiency
https://rarediseases.info.nih.gov/diseases/17288/severe-combined-immunodeficiency-due-to-lck-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17290/microform-holoprosencephaly
https://rarediseases.info.nih.gov/diseases/17290/microform-holoprosencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/17293/pelizaeus-merzbacher-like-disease-due-to-gjc2-mutation
https://rarediseases.info.nih.gov/diseases/17293/pelizaeus-merzbacher-like-disease-due-to-gjc2-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/17295/familial-steroid-resistant-nephrotic-syndrome-with-sensorineural-deafness
https://rarediseases.info.nih.gov/diseases/17295/familial-steroid-resistant-nephrotic-syndrome-with-sensorineural-deafness/diagnosis
https://rarediseases.info.nih.gov/diseases/17296/fatal-infantile-hypertonic-myofibrillar-myopathy
https://rarediseases.info.nih.gov/diseases/17296/fatal-infantile-hypertonic-myofibrillar-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17297/hemoglobinopathy-toms-river
https://rarediseases.info.nih.gov/diseases/17297/hemoglobinopathy-toms-river/diagnosis
https://rarediseases.info.nih.gov/diseases/17298/familial-progressive-hyper-and-hypopigmentation
https://rarediseases.info.nih.gov/diseases/17298/familial-progressive-hyper-and-hypopigmentation/diagnosis
https://rarediseases.info.nih.gov/diseases/17299/occipital-pachygyria-and-polymicrogyria
https://rarediseases.info.nih.gov/diseases/17299/occipital-pachygyria-and-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/17301/moyamoya-angiopathy-short-stature-facial-dysmorphism-hypergonadotropic-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/17301/moyamoya-angiopathy-short-stature-facial-dysmorphism-hypergonadotropic-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17302/syndromic-recessive-x-linked-ichthyosis
https://rarediseases.info.nih.gov/diseases/17302/syndromic-recessive-x-linked-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17303/self-improving-collodion-baby
https://rarediseases.info.nih.gov/diseases/17303/self-improving-collodion-baby/diagnosis
https://rarediseases.info.nih.gov/diseases/17304/annular-epidermolytic-ichthyosis
https://rarediseases.info.nih.gov/diseases/17304/annular-epidermolytic-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17306/keratosis-linearis-ichthyosis-congenita-sclerosing-keratoderma-syndrome
https://rarediseases.info.nih.gov/diseases/17306/keratosis-linearis-ichthyosis-congenita-sclerosing-keratoderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17307/inherited-creutzfeldt-jakob-disease
https://rarediseases.info.nih.gov/diseases/17307/inherited-creutzfeldt-jakob-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17308/larsen-like-syndrome-b3gat3-type
https://rarediseases.info.nih.gov/diseases/17308/larsen-like-syndrome-b3gat3-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17309/craniosynostosis-dental-anomalies
https://rarediseases.info.nih.gov/diseases/17309/craniosynostosis-dental-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/17310/8q2111-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17310/8q2111-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17312/autosomal-recessive-cerebellar-ataxia-psychomotor-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17312/autosomal-recessive-cerebellar-ataxia-psychomotor-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17313/autosomal-recessive-cerebellar-ataxia-epilepsy-intellectual-disability-syndrome-due-to-wwox-deficiency
https://rarediseases.info.nih.gov/diseases/17313/autosomal-recessive-cerebellar-ataxia-epilepsy-intellectual-disability-syndrome-due-to-wwox-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17314/adult-onset-autosomal-recessive-cerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/17314/adult-onset-autosomal-recessive-cerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/17315/pontocerebellar-hypoplasia-type-7
https://rarediseases.info.nih.gov/diseases/17315/pontocerebellar-hypoplasia-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/17319/hypocalcemic-vitamin-d-dependent-rickets
https://rarediseases.info.nih.gov/diseases/17319/hypocalcemic-vitamin-d-dependent-rickets/diagnosis
https://rarediseases.info.nih.gov/diseases/17320/autosomal-recessive-hypophosphatemic-rickets
https://rarediseases.info.nih.gov/diseases/17320/autosomal-recessive-hypophosphatemic-rickets/diagnosis
https://rarediseases.info.nih.gov/diseases/17321/hypermethioninemia-encephalopathy-due-to-adenosine-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/17321/hypermethioninemia-encephalopathy-due-to-adenosine-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17322/developmental-delay-due-to-methylmalonate-semialdehyde-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/17322/developmental-delay-due-to-methylmalonate-semialdehyde-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17323/familial-vesicoureteral-reflux
https://rarediseases.info.nih.gov/diseases/17323/familial-vesicoureteral-reflux/diagnosis
https://rarediseases.info.nih.gov/diseases/17324/early-onset-myopathy-with-fatal-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/17324/early-onset-myopathy-with-fatal-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17325/myosclerosis
https://rarediseases.info.nih.gov/diseases/17325/myosclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17326/intellectual-disability-alacrima-achalasia-syndrome
https://rarediseases.info.nih.gov/diseases/17326/intellectual-disability-alacrima-achalasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17328/dysmorphism-conductive-hearing-loss-heart-defect-syndrome
https://rarediseases.info.nih.gov/diseases/17328/dysmorphism-conductive-hearing-loss-heart-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17329/exfoliative-ichthyosis
https://rarediseases.info.nih.gov/diseases/17329/exfoliative-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17338/epithelial-recurrent-erosion-dystrophy
https://rarediseases.info.nih.gov/diseases/17338/epithelial-recurrent-erosion-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17339/x-linked-endothelial-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/17339/x-linked-endothelial-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17341/blepharophimosis-intellectual-disability-syndrome-mkb-type
https://rarediseases.info.nih.gov/diseases/17341/blepharophimosis-intellectual-disability-syndrome-mkb-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17342/blepharophimosis-intellectual-disability-syndrome-verloes-type
https://rarediseases.info.nih.gov/diseases/17342/blepharophimosis-intellectual-disability-syndrome-verloes-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17344/congenital-dyserythropoietic-anemia-type-iv
https://rarediseases.info.nih.gov/diseases/17344/congenital-dyserythropoietic-anemia-type-iv/diagnosis
https://rarediseases.info.nih.gov/diseases/17348/lethal-occipital-encephalocele-skeletal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/17348/lethal-occipital-encephalocele-skeletal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17349/edict-syndrome
https://rarediseases.info.nih.gov/diseases/17349/edict-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17350/distal-xq28-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/17350/distal-xq28-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17351/hypertelorism-preauricular-sinus-punctual-pits-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/17351/hypertelorism-preauricular-sinus-punctual-pits-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17352/hypoinsulinemic-hypoglycemia-and-body-hemihypertrophy
https://rarediseases.info.nih.gov/diseases/17352/hypoinsulinemic-hypoglycemia-and-body-hemihypertrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17353/deficiency-in-anterior-pituitary-function-variable-immunodeficiency-syndrome
https://rarediseases.info.nih.gov/diseases/17353/deficiency-in-anterior-pituitary-function-variable-immunodeficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17354/microcephaly-capillary-malformation-syndrome
https://rarediseases.info.nih.gov/diseases/17354/microcephaly-capillary-malformation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17355/neonatal-inflammatory-skin-and-bowel-disease
https://rarediseases.info.nih.gov/diseases/17355/neonatal-inflammatory-skin-and-bowel-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17356/renal-hepatic-pancreatic-dysplasia
https://rarediseases.info.nih.gov/diseases/17356/renal-hepatic-pancreatic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17361/kyphoscoliotic-ehlers-danlos-syndrome-due-to-fkbp22-deficiency
https://rarediseases.info.nih.gov/diseases/17361/kyphoscoliotic-ehlers-danlos-syndrome-due-to-fkbp22-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17362/connective-tissue-disorder-due-to-lysyl-hydroxylase-3-deficiency
https://rarediseases.info.nih.gov/diseases/17362/connective-tissue-disorder-due-to-lysyl-hydroxylase-3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17363/transient-infantile-hypertriglyceridemia-and-hepatosteatosis
https://rarediseases.info.nih.gov/diseases/17363/transient-infantile-hypertriglyceridemia-and-hepatosteatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17364/severe-congenital-hypochromic-anemia-with-ringed-sideroblasts
https://rarediseases.info.nih.gov/diseases/17364/severe-congenital-hypochromic-anemia-with-ringed-sideroblasts/diagnosis
https://rarediseases.info.nih.gov/diseases/17365/congenital-cataract-hearing-loss-severe-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17365/congenital-cataract-hearing-loss-severe-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17367/nephrotic-syndrome-epidermolysis-bullosa-sensorineural-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/17367/nephrotic-syndrome-epidermolysis-bullosa-sensorineural-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17368/autosomal-systemic-lupus-erythematosus
https://rarediseases.info.nih.gov/diseases/17368/autosomal-systemic-lupus-erythematosus/diagnosis
https://rarediseases.info.nih.gov/diseases/17369/plcg2-associated-antibody-deficiency-and-immune-dysregulation
https://rarediseases.info.nih.gov/diseases/17369/plcg2-associated-antibody-deficiency-and-immune-dysregulation/diagnosis
https://rarediseases.info.nih.gov/diseases/17371/progeroid-and-marfanoid-aspect-lipodystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17371/progeroid-and-marfanoid-aspect-lipodystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17374/autosomal-recessive-infantile-hypercalcemia
https://rarediseases.info.nih.gov/diseases/17374/autosomal-recessive-infantile-hypercalcemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17375/polymicrogyria-due-to-tubb2b-mutation
https://rarediseases.info.nih.gov/diseases/17375/polymicrogyria-due-to-tubb2b-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/17376/oligodontia-cancer-predisposition-syndrome
https://rarediseases.info.nih.gov/diseases/17376/oligodontia-cancer-predisposition-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17377/interstitial-lung-disease-nephrotic-syndrome-epidermolysis-bullosa-syndrome
https://rarediseases.info.nih.gov/diseases/17377/interstitial-lung-disease-nephrotic-syndrome-epidermolysis-bullosa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17378/autosomal-recessive-spastic-paraplegia-type-48
https://rarediseases.info.nih.gov/diseases/17378/autosomal-recessive-spastic-paraplegia-type-48/diagnosis
https://rarediseases.info.nih.gov/diseases/17379/congenital-hereditary-facial-paralysis-variable-hearing-loss-syndrome
https://rarediseases.info.nih.gov/diseases/17379/congenital-hereditary-facial-paralysis-variable-hearing-loss-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17380/porencephaly-microcephaly-bilateral-congenital-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/17380/porencephaly-microcephaly-bilateral-congenital-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17383/primary-dystonia-dyt21-type
https://rarediseases.info.nih.gov/diseases/17383/primary-dystonia-dyt21-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17384/hypotrichosis-osteolysis-periodontitis-palmoplantar-keratoderma-syndrome
https://rarediseases.info.nih.gov/diseases/17384/hypotrichosis-osteolysis-periodontitis-palmoplantar-keratoderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17389/autism-epilepsy-syndrome-due-to-branched-chain-ketoacid-dehydrogenase-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/17389/autism-epilepsy-syndrome-due-to-branched-chain-ketoacid-dehydrogenase-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17390/methylmalonic-acidemia-due-to-methylmalonyl-coa-epimerase-deficiency
https://rarediseases.info.nih.gov/diseases/17390/methylmalonic-acidemia-due-to-methylmalonyl-coa-epimerase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17401/pancreatic-triacylglycerol-lipase-deficiency
https://rarediseases.info.nih.gov/diseases/17401/pancreatic-triacylglycerol-lipase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17402/pancreatic-colipase-deficiency
https://rarediseases.info.nih.gov/diseases/17402/pancreatic-colipase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17403/combined-pancreatic-lipase-colipase-deficiency
https://rarediseases.info.nih.gov/diseases/17403/combined-pancreatic-lipase-colipase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17406/gm2-gangliosidosis-ab-variant
https://rarediseases.info.nih.gov/diseases/17406/gm2-gangliosidosis-ab-variant/diagnosis
https://rarediseases.info.nih.gov/diseases/17409/early-onset-spastic-ataxia-myoclonic-epilepsy-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/17409/early-onset-spastic-ataxia-myoclonic-epilepsy-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17410/jawad-syndrome
https://rarediseases.info.nih.gov/diseases/17410/jawad-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17411/retinal-dystrophy-optic-nerve-edema-splenomegaly-anhidrosis-migraine-headache-syndrome
https://rarediseases.info.nih.gov/diseases/17411/retinal-dystrophy-optic-nerve-edema-splenomegaly-anhidrosis-migraine-headache-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17412/coats-plus-syndrome
https://rarediseases.info.nih.gov/diseases/17412/coats-plus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17413/familial-cutaneous-telangiectasia-and-oropharyngeal-cancer-predisposition-syndrome
https://rarediseases.info.nih.gov/diseases/17413/familial-cutaneous-telangiectasia-and-oropharyngeal-cancer-predisposition-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17417/chronic-infantile-diarrhea-due-to-guanylate-cyclase-2c-overactivity
https://rarediseases.info.nih.gov/diseases/17417/chronic-infantile-diarrhea-due-to-guanylate-cyclase-2c-overactivity/diagnosis
https://rarediseases.info.nih.gov/diseases/17418/intestinal-obstruction-in-the-newborn-due-to-guanylate-cyclase-2c-deficiency
https://rarediseases.info.nih.gov/diseases/17418/intestinal-obstruction-in-the-newborn-due-to-guanylate-cyclase-2c-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17419/short-stature-onychodysplasia-facial-dysmorphism-hypotrichosis-syndrome
https://rarediseases.info.nih.gov/diseases/17419/short-stature-onychodysplasia-facial-dysmorphism-hypotrichosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17420/autosomal-dominant-aplasia-and-myelodysplasia
https://rarediseases.info.nih.gov/diseases/17420/autosomal-dominant-aplasia-and-myelodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17422/facial-dysmorphism-ocular-anomalies-osteopenia-intellectual-disability-dental-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17422/facial-dysmorphism-ocular-anomalies-osteopenia-intellectual-disability-dental-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17423/15q-overgrowth-syndrome
https://rarediseases.info.nih.gov/diseases/17423/15q-overgrowth-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17425/autosomal-recessive-spastic-ataxia-with-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/17425/autosomal-recessive-spastic-ataxia-with-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17427/atp13a2-related-juvenile-neuronal-ceroid-lipofuscinosis
https://rarediseases.info.nih.gov/diseases/17427/atp13a2-related-juvenile-neuronal-ceroid-lipofuscinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17428/mitochondrial-hypertrophic-cardiomyopathy-with-lactic-acidosis-due-to-mto1-deficiency
https://rarediseases.info.nih.gov/diseases/17428/mitochondrial-hypertrophic-cardiomyopathy-with-lactic-acidosis-due-to-mto1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17429/non-progressive-cerebellar-ataxia-with-intellectual-disability
https://rarediseases.info.nih.gov/diseases/17429/non-progressive-cerebellar-ataxia-with-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/17430/combined-immunodeficiency-due-to-stk4-deficiency
https://rarediseases.info.nih.gov/diseases/17430/combined-immunodeficiency-due-to-stk4-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17432/lethal-arteriopathy-syndrome-due-to-fibulin-4-deficiency
https://rarediseases.info.nih.gov/diseases/17432/lethal-arteriopathy-syndrome-due-to-fibulin-4-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17434/shox-related-short-stature
https://rarediseases.info.nih.gov/diseases/17434/shox-related-short-stature/diagnosis
https://rarediseases.info.nih.gov/diseases/17435/short-stature-due-to-partial-ghr-deficiency
https://rarediseases.info.nih.gov/diseases/17435/short-stature-due-to-partial-ghr-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17436/short-stature-due-to-ghsr-deficiency
https://rarediseases.info.nih.gov/diseases/17436/short-stature-due-to-ghsr-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17439/x-linked-non-progressive-cerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/17439/x-linked-non-progressive-cerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/17440/cataract-congenital-heart-disease-neural-tube-defect-syndrome
https://rarediseases.info.nih.gov/diseases/17440/cataract-congenital-heart-disease-neural-tube-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17441/severe-combined-immunodeficiency-due-to-dna-pkcs-deficiency
https://rarediseases.info.nih.gov/diseases/17441/severe-combined-immunodeficiency-due-to-dna-pkcs-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17442/pancytopenia-due-to-ikzf1-mutations
https://rarediseases.info.nih.gov/diseases/17442/pancytopenia-due-to-ikzf1-mutations/diagnosis
https://rarediseases.info.nih.gov/diseases/17443/congenital-myopathy-with-internal-nuclei-and-atypical-cores
https://rarediseases.info.nih.gov/diseases/17443/congenital-myopathy-with-internal-nuclei-and-atypical-cores/diagnosis
https://rarediseases.info.nih.gov/diseases/17444/familial-cortical-myoclonus
https://rarediseases.info.nih.gov/diseases/17444/familial-cortical-myoclonus/diagnosis
https://rarediseases.info.nih.gov/diseases/17445/autosomal-recessive-spastic-paraplegia-type-53
https://rarediseases.info.nih.gov/diseases/17445/autosomal-recessive-spastic-paraplegia-type-53/diagnosis
https://rarediseases.info.nih.gov/diseases/17447/autosomal-recessive-myogenic-arthrogryposis-multiplex-congenita
https://rarediseases.info.nih.gov/diseases/17447/autosomal-recessive-myogenic-arthrogryposis-multiplex-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/17448/carney-complex-trismus-pseudocamptodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/17448/carney-complex-trismus-pseudocamptodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17449/inherited-cancer-predisposing-syndrome-due-to-biallelic-brca2-mutations
https://rarediseases.info.nih.gov/diseases/17449/inherited-cancer-predisposing-syndrome-due-to-biallelic-brca2-mutations/diagnosis
https://rarediseases.info.nih.gov/diseases/17450/inherited-acute-myeloid-leukemia
https://rarediseases.info.nih.gov/diseases/17450/inherited-acute-myeloid-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17451/acute-myeloid-leukemia-with-cebpa-somatic-mutations
https://rarediseases.info.nih.gov/diseases/17451/acute-myeloid-leukemia-with-cebpa-somatic-mutations/diagnosis
https://rarediseases.info.nih.gov/diseases/17452/combined-oxidative-phosphorylation-defect-type-8
https://rarediseases.info.nih.gov/diseases/17452/combined-oxidative-phosphorylation-defect-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/17453/combined-oxidative-phosphorylation-defect-type-9
https://rarediseases.info.nih.gov/diseases/17453/combined-oxidative-phosphorylation-defect-type-9/diagnosis
https://rarediseases.info.nih.gov/diseases/17454/combined-oxidative-phosphorylation-defect-type-13
https://rarediseases.info.nih.gov/diseases/17454/combined-oxidative-phosphorylation-defect-type-13/diagnosis
https://rarediseases.info.nih.gov/diseases/17455/combined-oxidative-phosphorylation-defect-type-14
https://rarediseases.info.nih.gov/diseases/17455/combined-oxidative-phosphorylation-defect-type-14/diagnosis
https://rarediseases.info.nih.gov/diseases/17456/combined-oxidative-phosphorylation-defect-type-15
https://rarediseases.info.nih.gov/diseases/17456/combined-oxidative-phosphorylation-defect-type-15/diagnosis
https://rarediseases.info.nih.gov/diseases/17467/retinal-macular-dystrophy-type-2
https://rarediseases.info.nih.gov/diseases/17467/retinal-macular-dystrophy-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/17468/alazami-syndrome
https://rarediseases.info.nih.gov/diseases/17468/alazami-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17469/microcephalic-primordial-dwarfism-dauber-type
https://rarediseases.info.nih.gov/diseases/17469/microcephalic-primordial-dwarfism-dauber-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17470/encephalopathy-hypertrophic-cardiomyopathy-renal-tubular-disease-syndrome
https://rarediseases.info.nih.gov/diseases/17470/encephalopathy-hypertrophic-cardiomyopathy-renal-tubular-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17471/autosomal-dominant-spastic-paraplegia-type-41
https://rarediseases.info.nih.gov/diseases/17471/autosomal-dominant-spastic-paraplegia-type-41/diagnosis
https://rarediseases.info.nih.gov/diseases/17472/autosomal-dominant-spastic-paraplegia-type-36
https://rarediseases.info.nih.gov/diseases/17472/autosomal-dominant-spastic-paraplegia-type-36/diagnosis
https://rarediseases.info.nih.gov/diseases/17473/autosomal-recessive-spastic-paraplegia-type-43
https://rarediseases.info.nih.gov/diseases/17473/autosomal-recessive-spastic-paraplegia-type-43/diagnosis
https://rarediseases.info.nih.gov/diseases/17474/autosomal-recessive-spastic-paraplegia-type-55
https://rarediseases.info.nih.gov/diseases/17474/autosomal-recessive-spastic-paraplegia-type-55/diagnosis
https://rarediseases.info.nih.gov/diseases/17475/autosomal-recessive-spastic-paraplegia-type-54
https://rarediseases.info.nih.gov/diseases/17475/autosomal-recessive-spastic-paraplegia-type-54/diagnosis
https://rarediseases.info.nih.gov/diseases/17476/autosomal-recessive-spastic-paraplegia-type-46
https://rarediseases.info.nih.gov/diseases/17476/autosomal-recessive-spastic-paraplegia-type-46/diagnosis
https://rarediseases.info.nih.gov/diseases/17477/autosomal-recessive-spastic-paraplegia-type-45
https://rarediseases.info.nih.gov/diseases/17477/autosomal-recessive-spastic-paraplegia-type-45/diagnosis
https://rarediseases.info.nih.gov/diseases/17478/autosomal-recessive-spastic-paraplegia-type-44
https://rarediseases.info.nih.gov/diseases/17478/autosomal-recessive-spastic-paraplegia-type-44/diagnosis
https://rarediseases.info.nih.gov/diseases/17479/spastic-paraplegia-optic-atrophy-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/17479/spastic-paraplegia-optic-atrophy-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17480/autosomal-recessive-spastic-paraplegia-type-56
https://rarediseases.info.nih.gov/diseases/17480/autosomal-recessive-spastic-paraplegia-type-56/diagnosis
https://rarediseases.info.nih.gov/diseases/17482/early-onset-lafora-body-disease
https://rarediseases.info.nih.gov/diseases/17482/early-onset-lafora-body-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17483/t-cell-immunodeficiency-with-epidermodysplasia-verruciformis
https://rarediseases.info.nih.gov/diseases/17483/t-cell-immunodeficiency-with-epidermodysplasia-verruciformis/diagnosis
https://rarediseases.info.nih.gov/diseases/17484/sinoatrial-node-dysfunction-and-deafness
https://rarediseases.info.nih.gov/diseases/17484/sinoatrial-node-dysfunction-and-deafness/diagnosis
https://rarediseases.info.nih.gov/diseases/17485/x-linked-intellectual-disability-cardiomegaly-congestive-heart-failure-syndrome
https://rarediseases.info.nih.gov/diseases/17485/x-linked-intellectual-disability-cardiomegaly-congestive-heart-failure-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17486/autoinflammation-plcg2-associated-antibody-deficiency-immune-dysregulation
https://rarediseases.info.nih.gov/diseases/17486/autoinflammation-plcg2-associated-antibody-deficiency-immune-dysregulation/diagnosis
https://rarediseases.info.nih.gov/diseases/17487/combined-oxidative-phosphorylation-defect-type-11
https://rarediseases.info.nih.gov/diseases/17487/combined-oxidative-phosphorylation-defect-type-11/diagnosis
https://rarediseases.info.nih.gov/diseases/17488/pontocerebellar-hypoplasia-type-8
https://rarediseases.info.nih.gov/diseases/17488/pontocerebellar-hypoplasia-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/17494/autoinflammatory-syndrome-with-pyogenic-bacterial-infection-and-amylopectinosis
https://rarediseases.info.nih.gov/diseases/17494/autoinflammatory-syndrome-with-pyogenic-bacterial-infection-and-amylopectinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17495/tall-stature-long-halluces-multiple-extra-epiphyses-syndrome
https://rarediseases.info.nih.gov/diseases/17495/tall-stature-long-halluces-multiple-extra-epiphyses-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17496/developmental-delay-with-autism-spectrum-disorder-and-gait-instability
https://rarediseases.info.nih.gov/diseases/17496/developmental-delay-with-autism-spectrum-disorder-and-gait-instability/diagnosis
https://rarediseases.info.nih.gov/diseases/17497/autosomal-dominant-neovascular-inflammatory-vitreoretinopathy
https://rarediseases.info.nih.gov/diseases/17497/autosomal-dominant-neovascular-inflammatory-vitreoretinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17498/microcephalic-primordial-dwarfism-due-to-znf335-deficiency
https://rarediseases.info.nih.gov/diseases/17498/microcephalic-primordial-dwarfism-due-to-znf335-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17499/x-linked-central-congenital-hypothyroidism-with-late-onset-testicular-enlargement
https://rarediseases.info.nih.gov/diseases/17499/x-linked-central-congenital-hypothyroidism-with-late-onset-testicular-enlargement/diagnosis
https://rarediseases.info.nih.gov/diseases/17500/congenital-chronic-diarrhea-with-protein-losing-enteropathy
https://rarediseases.info.nih.gov/diseases/17500/congenital-chronic-diarrhea-with-protein-losing-enteropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17501/adult-onset-multiple-mitochondrial-dna-deletion-syndrome-due-to-dguok-deficiency
https://rarediseases.info.nih.gov/diseases/17501/adult-onset-multiple-mitochondrial-dna-deletion-syndrome-due-to-dguok-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17502/microcephaly-cerebellar-hypoplasia-cardiac-conduction-defect-syndrome
https://rarediseases.info.nih.gov/diseases/17502/microcephaly-cerebellar-hypoplasia-cardiac-conduction-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17503/adult-onset-chronic-progressive-external-ophthalmoplegia-with-mitochondrial-myopathy
https://rarediseases.info.nih.gov/diseases/17503/adult-onset-chronic-progressive-external-ophthalmoplegia-with-mitochondrial-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17504/lipoprotein-glomerulopathy
https://rarediseases.info.nih.gov/diseases/17504/lipoprotein-glomerulopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17505/5p13-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/17505/5p13-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17511/autosomal-recessive-severe-congenital-neutropenia-due-to-g6pc3-deficiency
https://rarediseases.info.nih.gov/diseases/17511/autosomal-recessive-severe-congenital-neutropenia-due-to-g6pc3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17512/immunodeficiency-due-to-masp-2-deficiency
https://rarediseases.info.nih.gov/diseases/17512/immunodeficiency-due-to-masp-2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17513/immunodeficiency-due-to-ficolin3-deficiency
https://rarediseases.info.nih.gov/diseases/17513/immunodeficiency-due-to-ficolin3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17515/congenital-ichthyosis-intellectual-disability-spastic-quadriplegia-syndrome
https://rarediseases.info.nih.gov/diseases/17515/congenital-ichthyosis-intellectual-disability-spastic-quadriplegia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17516/spectrin-associated-autosomal-recessive-cerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/17516/spectrin-associated-autosomal-recessive-cerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/17517/progressive-external-ophthalmoplegia-myopathy-emaciation-syndrome
https://rarediseases.info.nih.gov/diseases/17517/progressive-external-ophthalmoplegia-myopathy-emaciation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17518/dna2-related-mitochondrial-dna-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/17518/dna2-related-mitochondrial-dna-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17519/ispd-related-limb-girdle-muscular-dystrophy-r20
https://rarediseases.info.nih.gov/diseases/17519/ispd-related-limb-girdle-muscular-dystrophy-r20/diagnosis
https://rarediseases.info.nih.gov/diseases/17520/autism-spectrum-disorder-due-to-auts2-deficiency
https://rarediseases.info.nih.gov/diseases/17520/autism-spectrum-disorder-due-to-auts2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17521/familial-infantile-myoclonic-epilepsy
https://rarediseases.info.nih.gov/diseases/17521/familial-infantile-myoclonic-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/17522/progressive-myoclonic-epilepsy-with-dystonia
https://rarediseases.info.nih.gov/diseases/17522/progressive-myoclonic-epilepsy-with-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/17523/early-onset-progressive-neurodegeneration-blindness-ataxia-spasticity-syndrome
https://rarediseases.info.nih.gov/diseases/17523/early-onset-progressive-neurodegeneration-blindness-ataxia-spasticity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17524/hereditary-benign-intraepithelial-dyskeratosis
https://rarediseases.info.nih.gov/diseases/17524/hereditary-benign-intraepithelial-dyskeratosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17525/corneal-intraepithelial-dyskeratosis-palmoplantar-hyperkeratosis-laryngeal-dyskeratosis-syndrome
https://rarediseases.info.nih.gov/diseases/17525/corneal-intraepithelial-dyskeratosis-palmoplantar-hyperkeratosis-laryngeal-dyskeratosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17526/cobblestone-lissencephaly-without-muscular-or-ocular-involvement
https://rarediseases.info.nih.gov/diseases/17526/cobblestone-lissencephaly-without-muscular-or-ocular-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/17528/facial-dysmorphism-immunodeficiency-livedo-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/17528/facial-dysmorphism-immunodeficiency-livedo-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17529/progressive-retinal-dystrophy-due-to-retinol-transport-defect
https://rarediseases.info.nih.gov/diseases/17529/progressive-retinal-dystrophy-due-to-retinol-transport-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/17531/oculocutaneous-albinism-type-7
https://rarediseases.info.nih.gov/diseases/17531/oculocutaneous-albinism-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/17532/epileptic-encephalopathy-with-global-cerebral-demyelination
https://rarediseases.info.nih.gov/diseases/17532/epileptic-encephalopathy-with-global-cerebral-demyelination/diagnosis
https://rarediseases.info.nih.gov/diseases/17533/familial-primary-localized-cutaneous-amyloidosis
https://rarediseases.info.nih.gov/diseases/17533/familial-primary-localized-cutaneous-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17540/dl-2-hydroxyglutaric-aciduria
https://rarediseases.info.nih.gov/diseases/17540/dl-2-hydroxyglutaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/17541/ank3-related-intellectual-disability-sleep-disturbance-syndrome
https://rarediseases.info.nih.gov/diseases/17541/ank3-related-intellectual-disability-sleep-disturbance-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17542/19p1313-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17542/19p1313-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17547/mandibulofacial-dysostosis-macroblepharon-macrostomia-syndrome
https://rarediseases.info.nih.gov/diseases/17547/mandibulofacial-dysostosis-macroblepharon-macrostomia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17548/short-ulna-dysmorphism-hypotonia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17548/short-ulna-dysmorphism-hypotonia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17549/severe-combined-immunodeficiency-due-to-card11-deficiency
https://rarediseases.info.nih.gov/diseases/17549/severe-combined-immunodeficiency-due-to-card11-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17550/combined-immunodeficiency-due-to-il21r-deficiency
https://rarediseases.info.nih.gov/diseases/17550/combined-immunodeficiency-due-to-il21r-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17551/syndactyly-camptodactyly-and-clinodactyly-of-fifth-fingers-bifid-toes-syndrome
https://rarediseases.info.nih.gov/diseases/17551/syndactyly-camptodactyly-and-clinodactyly-of-fifth-fingers-bifid-toes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17552/severe-neurodegenerative-syndrome-with-lipodystrophy
https://rarediseases.info.nih.gov/diseases/17552/severe-neurodegenerative-syndrome-with-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17553/fetal-akinesia-cerebral-and-retinal-hemorrhage-syndrome
https://rarediseases.info.nih.gov/diseases/17553/fetal-akinesia-cerebral-and-retinal-hemorrhage-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17554/hypomyelination-with-brain-stem-and-spinal-cord-involvement-and-leg-spasticity
https://rarediseases.info.nih.gov/diseases/17554/hypomyelination-with-brain-stem-and-spinal-cord-involvement-and-leg-spasticity/diagnosis
https://rarediseases.info.nih.gov/diseases/17555/multiple-mitochondrial-dysfunctions-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/17555/multiple-mitochondrial-dysfunctions-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/17556/autosomal-recessive-cerebellar-ataxia-pyramidal-signs-nystagmus-oculomotor-apraxia-syndrome
https://rarediseases.info.nih.gov/diseases/17556/autosomal-recessive-cerebellar-ataxia-pyramidal-signs-nystagmus-oculomotor-apraxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17558/thoc6-related-developmental-delay-microcephaly-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17558/thoc6-related-developmental-delay-microcephaly-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17559/autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/17559/autosomal-dominant-childhood-onset-proximal-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17562/hypohidrosis-enamel-hypoplasia-palmoplantar-keratoderma-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17562/hypohidrosis-enamel-hypoplasia-palmoplantar-keratoderma-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17563/intellectual-disability-strabismus-syndrome
https://rarediseases.info.nih.gov/diseases/17563/intellectual-disability-strabismus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17564/mitochondrial-dna-depletion-syndrome-hepatocerebrorenal-form
https://rarediseases.info.nih.gov/diseases/17564/mitochondrial-dna-depletion-syndrome-hepatocerebrorenal-form/diagnosis
https://rarediseases.info.nih.gov/diseases/17565/leukoencephalopathy-with-mild-cerebellar-ataxia-and-white-matter-edema
https://rarediseases.info.nih.gov/diseases/17565/leukoencephalopathy-with-mild-cerebellar-ataxia-and-white-matter-edema/diagnosis
https://rarediseases.info.nih.gov/diseases/17566/ctcf-related-neurodevelopmental-disorder
https://rarediseases.info.nih.gov/diseases/17566/ctcf-related-neurodevelopmental-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/17567/x-linked-parkinsonism-spasticity-syndrome
https://rarediseases.info.nih.gov/diseases/17567/x-linked-parkinsonism-spasticity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17568/childhood-onset-autosomal-recessive-myopathy-with-external-ophthalmoplegia
https://rarediseases.info.nih.gov/diseases/17568/childhood-onset-autosomal-recessive-myopathy-with-external-ophthalmoplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/17569/hyperuricemia-pulmonary-hypertension-renal-failure-alkalosis-syndrome
https://rarediseases.info.nih.gov/diseases/17569/hyperuricemia-pulmonary-hypertension-renal-failure-alkalosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17571/craniofaciofrontodigital-syndrome
https://rarediseases.info.nih.gov/diseases/17571/craniofaciofrontodigital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17574/x-linked-dyserythropoietic-anemia-with-abnormal-platelets-and-neutropenia
https://rarediseases.info.nih.gov/diseases/17574/x-linked-dyserythropoietic-anemia-with-abnormal-platelets-and-neutropenia/diagnosis
https://rarediseases.info.nih.gov/diseases/17575/colobomatous-microphthalmia-obesity-hypogenitalism-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17575/colobomatous-microphthalmia-obesity-hypogenitalism-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17577/noonan-syndrome-like-disorder-with-juvenile-myelomonocytic-leukemia
https://rarediseases.info.nih.gov/diseases/17577/noonan-syndrome-like-disorder-with-juvenile-myelomonocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17578/charcot-marie-tooth-disease-type-4b3
https://rarediseases.info.nih.gov/diseases/17578/charcot-marie-tooth-disease-type-4b3/diagnosis
https://rarediseases.info.nih.gov/diseases/17579/ichthyosis-short-stature-brachydactyly-microspherophakia-syndrome
https://rarediseases.info.nih.gov/diseases/17579/ichthyosis-short-stature-brachydactyly-microspherophakia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17582/infantile-epileptic-dyskinetic-encephalopathy
https://rarediseases.info.nih.gov/diseases/17582/infantile-epileptic-dyskinetic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17583/intellectual-disability-brachydactyly-pierre-robin-syndrome
https://rarediseases.info.nih.gov/diseases/17583/intellectual-disability-brachydactyly-pierre-robin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17584/intellectual-disability-seizures-hypophosphatasia-ophthalmic-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17584/intellectual-disability-seizures-hypophosphatasia-ophthalmic-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17585/congenital-neutropenia-myelofibrosis-nephromegaly-syndrome
https://rarediseases.info.nih.gov/diseases/17585/congenital-neutropenia-myelofibrosis-nephromegaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17586/congenital-sideroblastic-anemia-b-cell-immunodeficiency-periodic-fever-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17586/congenital-sideroblastic-anemia-b-cell-immunodeficiency-periodic-fever-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17587/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-c
https://rarediseases.info.nih.gov/diseases/17587/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-c/diagnosis
https://rarediseases.info.nih.gov/diseases/17588/developmental-delay-facial-dysmorphism-syndrome-due-to-med13l-deficiency
https://rarediseases.info.nih.gov/diseases/17588/developmental-delay-facial-dysmorphism-syndrome-due-to-med13l-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17589/combined-oxidative-phosphorylation-defect-type-17
https://rarediseases.info.nih.gov/diseases/17589/combined-oxidative-phosphorylation-defect-type-17/diagnosis
https://rarediseases.info.nih.gov/diseases/17590/pontocerebellar-hypoplasia-type-9
https://rarediseases.info.nih.gov/diseases/17590/pontocerebellar-hypoplasia-type-9/diagnosis
https://rarediseases.info.nih.gov/diseases/17591/primary-hyperaldosteronism-seizures-neurological-abnormalities-syndrome
https://rarediseases.info.nih.gov/diseases/17591/primary-hyperaldosteronism-seizures-neurological-abnormalities-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17592/severe-motor-and-intellectual-disabilities-sensorineural-deafness-dystonia-syndrome
https://rarediseases.info.nih.gov/diseases/17592/severe-motor-and-intellectual-disabilities-sensorineural-deafness-dystonia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17593/microcornea-myopic-chorioretinal-atrophy-telecanthus-syndrome
https://rarediseases.info.nih.gov/diseases/17593/microcornea-myopic-chorioretinal-atrophy-telecanthus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17594/severe-dermatitis-multiple-allergies-metabolic-wasting-syndrome
https://rarediseases.info.nih.gov/diseases/17594/severe-dermatitis-multiple-allergies-metabolic-wasting-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17595/diffuse-palmoplantar-keratoderma-with-painful-fissures
https://rarediseases.info.nih.gov/diseases/17595/diffuse-palmoplantar-keratoderma-with-painful-fissures/diagnosis
https://rarediseases.info.nih.gov/diseases/17596/focal-palmoplantar-keratoderma-with-joint-keratoses
https://rarediseases.info.nih.gov/diseases/17596/focal-palmoplantar-keratoderma-with-joint-keratoses/diagnosis
https://rarediseases.info.nih.gov/diseases/17597/ataxia-intellectual-disability-oculomotor-apraxia-cerebellar-cysts-syndrome
https://rarediseases.info.nih.gov/diseases/17597/ataxia-intellectual-disability-oculomotor-apraxia-cerebellar-cysts-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17598/oculocutaneous-albinism-type-5
https://rarediseases.info.nih.gov/diseases/17598/oculocutaneous-albinism-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/17599/oculocutaneous-albinism-type-6
https://rarediseases.info.nih.gov/diseases/17599/oculocutaneous-albinism-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis
https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis/diagnosis
https://rarediseases.info.nih.gov/diseases/17602/stt3a-cdg
https://rarediseases.info.nih.gov/diseases/17602/stt3a-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/17603/stt3b-cdg
https://rarediseases.info.nih.gov/diseases/17603/stt3b-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/17604/autism-spectrum-disorder-epilepsy-arthrogryposis-syndrome
https://rarediseases.info.nih.gov/diseases/17604/autism-spectrum-disorder-epilepsy-arthrogryposis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17606/congenital-muscular-dystrophy-with-intellectual-disability
https://rarediseases.info.nih.gov/diseases/17606/congenital-muscular-dystrophy-with-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/17608/muscle-eye-brain-disease-with-bilateral-multicystic-leucodystrophy
https://rarediseases.info.nih.gov/diseases/17608/muscle-eye-brain-disease-with-bilateral-multicystic-leucodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17609/hypotonia-speech-impairment-severe-cognitive-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17609/hypotonia-speech-impairment-severe-cognitive-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17610/multicentric-osteolysis-nodulosis-arthropathy-spectrum
https://rarediseases.info.nih.gov/diseases/17610/multicentric-osteolysis-nodulosis-arthropathy-spectrum/diagnosis
https://rarediseases.info.nih.gov/diseases/17611/severe-intellectual-disability-short-stature-behavioral-abnormalities-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17611/severe-intellectual-disability-short-stature-behavioral-abnormalities-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17614/x-linked-osteoporosis-with-fractures
https://rarediseases.info.nih.gov/diseases/17614/x-linked-osteoporosis-with-fractures/diagnosis
https://rarediseases.info.nih.gov/diseases/17615/growth-and-developmental-delay-hypotonia-vision-impairment-lactic-acidosis-syndrome
https://rarediseases.info.nih.gov/diseases/17615/growth-and-developmental-delay-hypotonia-vision-impairment-lactic-acidosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17616/surf1-related-charcot-marie-tooth-disease-type-4
https://rarediseases.info.nih.gov/diseases/17616/surf1-related-charcot-marie-tooth-disease-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/17617/congenital-microcephaly-severe-encephalopathy-progressive-cerebral-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17617/congenital-microcephaly-severe-encephalopathy-progressive-cerebral-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17620/primary-microcephaly-mild-intellectual-disability-young-onset-diabetes-syndrome
https://rarediseases.info.nih.gov/diseases/17620/primary-microcephaly-mild-intellectual-disability-young-onset-diabetes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17621/atypical-juvenile-parkinsonism
https://rarediseases.info.nih.gov/diseases/17621/atypical-juvenile-parkinsonism/diagnosis
https://rarediseases.info.nih.gov/diseases/17624/feingold-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/17624/feingold-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/17630/macrocephaly-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17630/macrocephaly-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17632/foveal-hypoplasia-optic-nerve-decussation-defect-anterior-segment-dysgenesis-syndrome
https://rarediseases.info.nih.gov/diseases/17632/foveal-hypoplasia-optic-nerve-decussation-defect-anterior-segment-dysgenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17633/short-stature-auditory-canal-atresia-mandibular-hypoplasia-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17633/short-stature-auditory-canal-atresia-mandibular-hypoplasia-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17634/familial-hyperprolactinemia
https://rarediseases.info.nih.gov/diseases/17634/familial-hyperprolactinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/17636/intellectual-disability-coarse-face-macrocephaly-cerebellar-hypotrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17636/intellectual-disability-coarse-face-macrocephaly-cerebellar-hypotrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17637/joubert-syndrome-with-jeune-asphyxiating-thoracic-dystrophy
https://rarediseases.info.nih.gov/diseases/17637/joubert-syndrome-with-jeune-asphyxiating-thoracic-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17638/autosomal-dominant-charcot-marie-tooth-disease-type-2u
https://rarediseases.info.nih.gov/diseases/17638/autosomal-dominant-charcot-marie-tooth-disease-type-2u/diagnosis
https://rarediseases.info.nih.gov/diseases/17639/peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome
https://rarediseases.info.nih.gov/diseases/17639/peripheral-neuropathy-myopathy-hoarseness-hearing-loss-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17640/retinal-dystrophy-with-inner-retinal-dysfunction-and-ganglion-cell-anomalies
https://rarediseases.info.nih.gov/diseases/17640/retinal-dystrophy-with-inner-retinal-dysfunction-and-ganglion-cell-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/17642/sacral-agenesis-abnormal-ossification-of-the-vertebral-bodies-persistent-notochordal-canal-syndrome
https://rarediseases.info.nih.gov/diseases/17642/sacral-agenesis-abnormal-ossification-of-the-vertebral-bodies-persistent-notochordal-canal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17643/polyglucosan-body-myopathy-type-1
https://rarediseases.info.nih.gov/diseases/17643/polyglucosan-body-myopathy-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/17644/autosomal-spastic-paraplegia-type-58
https://rarediseases.info.nih.gov/diseases/17644/autosomal-spastic-paraplegia-type-58/diagnosis
https://rarediseases.info.nih.gov/diseases/17645/microcephaly-thin-corpus-callosum-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17645/microcephaly-thin-corpus-callosum-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17646/tcr-alpha-beta-positive-t-cell-deficiency
https://rarediseases.info.nih.gov/diseases/17646/tcr-alpha-beta-positive-t-cell-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17647/combined-immunodeficiency-due-to-malt1-deficiency
https://rarediseases.info.nih.gov/diseases/17647/combined-immunodeficiency-due-to-malt1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17648/intellectual-disability-obesity-prognathism-eye-and-skin-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17648/intellectual-disability-obesity-prognathism-eye-and-skin-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17651/alpha-b-crystallin-related-late-onset-myopathy
https://rarediseases.info.nih.gov/diseases/17651/alpha-b-crystallin-related-late-onset-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17652/finnish-upper-limb-onset-distal-myopathy
https://rarediseases.info.nih.gov/diseases/17652/finnish-upper-limb-onset-distal-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17653/distal-anoctaminopathy
https://rarediseases.info.nih.gov/diseases/17653/distal-anoctaminopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17654/male-infertility-with-teratozoospermia-due-to-single-gene-mutation
https://rarediseases.info.nih.gov/diseases/17654/male-infertility-with-teratozoospermia-due-to-single-gene-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/17655/pancytopenia-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17655/pancytopenia-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17656/autosomal-recessive-spastic-paraplegia-type-61
https://rarediseases.info.nih.gov/diseases/17656/autosomal-recessive-spastic-paraplegia-type-61/diagnosis
https://rarediseases.info.nih.gov/diseases/17657/autosomal-recessive-spastic-paraplegia-type-62
https://rarediseases.info.nih.gov/diseases/17657/autosomal-recessive-spastic-paraplegia-type-62/diagnosis
https://rarediseases.info.nih.gov/diseases/17658/autosomal-recessive-spastic-paraplegia-type-63
https://rarediseases.info.nih.gov/diseases/17658/autosomal-recessive-spastic-paraplegia-type-63/diagnosis
https://rarediseases.info.nih.gov/diseases/17659/autosomal-recessive-spastic-paraplegia-type-64
https://rarediseases.info.nih.gov/diseases/17659/autosomal-recessive-spastic-paraplegia-type-64/diagnosis
https://rarediseases.info.nih.gov/diseases/17660/autosomal-spastic-paraplegia-type-72
https://rarediseases.info.nih.gov/diseases/17660/autosomal-spastic-paraplegia-type-72/diagnosis
https://rarediseases.info.nih.gov/diseases/17661/multiple-mitochondrial-dysfunctions-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/17661/multiple-mitochondrial-dysfunctions-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/17662/multiple-mitochondrial-dysfunctions-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/17662/multiple-mitochondrial-dysfunctions-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/17663/familial-median-cleft-of-the-upper-and-lower-lips
https://rarediseases.info.nih.gov/diseases/17663/familial-median-cleft-of-the-upper-and-lower-lips/diagnosis
https://rarediseases.info.nih.gov/diseases/17664/moyamoya-disease-with-early-onset-achalasia
https://rarediseases.info.nih.gov/diseases/17664/moyamoya-disease-with-early-onset-achalasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17665/episodic-ataxia-with-slurred-speech
https://rarediseases.info.nih.gov/diseases/17665/episodic-ataxia-with-slurred-speech/diagnosis
https://rarediseases.info.nih.gov/diseases/17666/mend-syndrome
https://rarediseases.info.nih.gov/diseases/17666/mend-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17667/autosomal-recessive-spondylometaphyseal-dysplasia-mgarban-type
https://rarediseases.info.nih.gov/diseases/17667/autosomal-recessive-spondylometaphyseal-dysplasia-mgarban-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17668/1p31p32-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/17668/1p31p32-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17669/autosomal-dominant-focal-non-epidermolytic-palmoplantar-keratoderma-with-plantar-blistering
https://rarediseases.info.nih.gov/diseases/17669/autosomal-dominant-focal-non-epidermolytic-palmoplantar-keratoderma-with-plantar-blistering/diagnosis
https://rarediseases.info.nih.gov/diseases/17670/familial-bicuspid-aortic-valve
https://rarediseases.info.nih.gov/diseases/17670/familial-bicuspid-aortic-valve/diagnosis
https://rarediseases.info.nih.gov/diseases/17672/diffuse-cerebral-and-cerebellar-atrophy-intractable-seizures-progressive-microcephaly-syndrome
https://rarediseases.info.nih.gov/diseases/17672/diffuse-cerebral-and-cerebellar-atrophy-intractable-seizures-progressive-microcephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17673/intellectual-disability-facial-dysmorphism-syndrome-due-to-setd5-haploinsufficiency
https://rarediseases.info.nih.gov/diseases/17673/intellectual-disability-facial-dysmorphism-syndrome-due-to-setd5-haploinsufficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17674/tatton-brown-rahman-syndrome
https://rarediseases.info.nih.gov/diseases/17674/tatton-brown-rahman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17675/female-infertility-due-to-zona-pellucida-defect
https://rarediseases.info.nih.gov/diseases/17675/female-infertility-due-to-zona-pellucida-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/17676/global-developmental-delay-lung-cysts-overgrowth-wilms-tumor-syndrome
https://rarediseases.info.nih.gov/diseases/17676/global-developmental-delay-lung-cysts-overgrowth-wilms-tumor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17677/autosomal-recessive-cerebellar-ataxia-epilepsy-intellectual-disability-syndrome-due-to-tud-deficiency
https://rarediseases.info.nih.gov/diseases/17677/autosomal-recessive-cerebellar-ataxia-epilepsy-intellectual-disability-syndrome-due-to-tud-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17678/autosomal-recessive-cerebellar-ataxia-epilepsy-intellectual-disability-syndrome-due-to-rubcn-deficiency
https://rarediseases.info.nih.gov/diseases/17678/autosomal-recessive-cerebellar-ataxia-epilepsy-intellectual-disability-syndrome-due-to-rubcn-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17680/pontocerebellar-hypoplasia-type-10
https://rarediseases.info.nih.gov/diseases/17680/pontocerebellar-hypoplasia-type-10/diagnosis
https://rarediseases.info.nih.gov/diseases/17683/wolfram-like-syndrome
https://rarediseases.info.nih.gov/diseases/17683/wolfram-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17684/hereditary-late-onset-parkinson-disease
https://rarediseases.info.nih.gov/diseases/17684/hereditary-late-onset-parkinson-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17686/maternal-riboflavin-deficiency
https://rarediseases.info.nih.gov/diseases/17686/maternal-riboflavin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17687/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17687/early-onset-epileptic-encephalopathy-cortical-blindness-intellectual-disability-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17688/facial-dysmorphism-lens-dislocation-anterior-segment-abnormalities-spontaneous-filtering-blebs-syndrome
https://rarediseases.info.nih.gov/diseases/17688/facial-dysmorphism-lens-dislocation-anterior-segment-abnormalities-spontaneous-filtering-blebs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17689/autosomal-recessive-cerebellar-ataxia-due-to-stub1-deficiency
https://rarediseases.info.nih.gov/diseases/17689/autosomal-recessive-cerebellar-ataxia-due-to-stub1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17690/epidermolysis-bullosa-simplex-due-to-bp230-deficiency
https://rarediseases.info.nih.gov/diseases/17690/epidermolysis-bullosa-simplex-due-to-bp230-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17691/epidermolysis-bullosa-simplex-due-to-exophilin-5-deficiency
https://rarediseases.info.nih.gov/diseases/17691/epidermolysis-bullosa-simplex-due-to-exophilin-5-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17692/primary-failure-of-tooth-eruption
https://rarediseases.info.nih.gov/diseases/17692/primary-failure-of-tooth-eruption/diagnosis
https://rarediseases.info.nih.gov/diseases/17693/cranio-cervical-dystonia-with-laryngeal-and-upper-limb-involvement
https://rarediseases.info.nih.gov/diseases/17693/cranio-cervical-dystonia-with-laryngeal-and-upper-limb-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/17694/adult-onset-cervical-dystonia-dyt23-type
https://rarediseases.info.nih.gov/diseases/17694/adult-onset-cervical-dystonia-dyt23-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17695/bleeding-disorder-due-to-caldag-gefi-deficiency
https://rarediseases.info.nih.gov/diseases/17695/bleeding-disorder-due-to-caldag-gefi-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17696/severe-combined-immunodeficiency-due-to-ctps1-deficiency
https://rarediseases.info.nih.gov/diseases/17696/severe-combined-immunodeficiency-due-to-ctps1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17697/woolly-hair-palmoplantar-keratoderma-syndrome
https://rarediseases.info.nih.gov/diseases/17697/woolly-hair-palmoplantar-keratoderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17698/autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency
https://rarediseases.info.nih.gov/diseases/17698/autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17699/combined-oxidative-phosphorylation-defect-type-20
https://rarediseases.info.nih.gov/diseases/17699/combined-oxidative-phosphorylation-defect-type-20/diagnosis
https://rarediseases.info.nih.gov/diseases/177/macrosomia-microphthalmia-cleft-palate-syndrome
https://rarediseases.info.nih.gov/diseases/177/macrosomia-microphthalmia-cleft-palate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17700/combined-oxidative-phosphorylation-defect-type-21
https://rarediseases.info.nih.gov/diseases/17700/combined-oxidative-phosphorylation-defect-type-21/diagnosis
https://rarediseases.info.nih.gov/diseases/17701/riddle-syndrome
https://rarediseases.info.nih.gov/diseases/17701/riddle-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17702/autosomal-recessive-severe-congenital-neutropenia-due-to-jagn1-deficiency
https://rarediseases.info.nih.gov/diseases/17702/autosomal-recessive-severe-congenital-neutropenia-due-to-jagn1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17703/nail-and-teeth-abnormalities-marginal-palmoplantar-keratoderma-oral-hyperpigmentation-syndrome
https://rarediseases.info.nih.gov/diseases/17703/nail-and-teeth-abnormalities-marginal-palmoplantar-keratoderma-oral-hyperpigmentation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17705/mucolipidosis-type-iii-gamma
https://rarediseases.info.nih.gov/diseases/17705/mucolipidosis-type-iii-gamma/diagnosis
https://rarediseases.info.nih.gov/diseases/17706/progressive-myoclonic-epilepsy-type-8
https://rarediseases.info.nih.gov/diseases/17706/progressive-myoclonic-epilepsy-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/17707/colobomatous-microphthalmia-rhizomelic-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/17707/colobomatous-microphthalmia-rhizomelic-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17708/tor1aip1-related-limb-girdle-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/17708/tor1aip1-related-limb-girdle-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17709/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/17709/x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17710/combined-immunodeficiency-due-to-ox40-deficiency
https://rarediseases.info.nih.gov/diseases/17710/combined-immunodeficiency-due-to-ox40-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17711/primary-immunodeficiency-with-post-measles-mumps-rubella-vaccine-viral-infection
https://rarediseases.info.nih.gov/diseases/17711/primary-immunodeficiency-with-post-measles-mumps-rubella-vaccine-viral-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/17712/autosomal-recessive-spastic-paraplegia-type-57
https://rarediseases.info.nih.gov/diseases/17712/autosomal-recessive-spastic-paraplegia-type-57/diagnosis
https://rarediseases.info.nih.gov/diseases/17713/familial-ossifying-fibroma
https://rarediseases.info.nih.gov/diseases/17713/familial-ossifying-fibroma/diagnosis
https://rarediseases.info.nih.gov/diseases/17714/autosomal-dominant-charcot-marie-tooth-disease-type-2y
https://rarediseases.info.nih.gov/diseases/17714/autosomal-dominant-charcot-marie-tooth-disease-type-2y/diagnosis
https://rarediseases.info.nih.gov/diseases/17715/progressive-myoclonic-epilepsy-type-7
https://rarediseases.info.nih.gov/diseases/17715/progressive-myoclonic-epilepsy-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/17716/keppen-lubinsky-syndrome
https://rarediseases.info.nih.gov/diseases/17716/keppen-lubinsky-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17717/short-stature-advanced-bone-age-early-onset-osteoarthritis-syndrome
https://rarediseases.info.nih.gov/diseases/17717/short-stature-advanced-bone-age-early-onset-osteoarthritis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17718/lethal-neonatal-spasticity-epileptic-encephalopathy-syndrome
https://rarediseases.info.nih.gov/diseases/17718/lethal-neonatal-spasticity-epileptic-encephalopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17719/colobomatous-optic-disc-macular-atrophy-chorioretinopathy-syndrome
https://rarediseases.info.nih.gov/diseases/17719/colobomatous-optic-disc-macular-atrophy-chorioretinopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17720/cog2-cdg
https://rarediseases.info.nih.gov/diseases/17720/cog2-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/17721/x-linked-microcephaly-growth-retardation-prognathism-cryptorchidism-syndrome
https://rarediseases.info.nih.gov/diseases/17721/x-linked-microcephaly-growth-retardation-prognathism-cryptorchidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17722/progeroid-features-hepatocellular-carcinoma-predisposition-syndrome
https://rarediseases.info.nih.gov/diseases/17722/progeroid-features-hepatocellular-carcinoma-predisposition-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17723/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-d
https://rarediseases.info.nih.gov/diseases/17723/autosomal-recessive-intermediate-charcot-marie-tooth-disease-type-d/diagnosis
https://rarediseases.info.nih.gov/diseases/17725/periodic-fever-infantile-enterocolitis-autoinflammatory-syndrome
https://rarediseases.info.nih.gov/diseases/17725/periodic-fever-infantile-enterocolitis-autoinflammatory-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17726/thrombomodulin-related-bleeding-disorder
https://rarediseases.info.nih.gov/diseases/17726/thrombomodulin-related-bleeding-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/17727/cataract-growth-hormone-deficiency-sensory-neuropathy-sensorineural-hearing-loss-skeletal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/17727/cataract-growth-hormone-deficiency-sensory-neuropathy-sensorineural-hearing-loss-skeletal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17729/familial-atrial-tachyarrhythmia-infra-hisian-cardiac-conduction-disease
https://rarediseases.info.nih.gov/diseases/17729/familial-atrial-tachyarrhythmia-infra-hisian-cardiac-conduction-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17730/retinitis-pigmentosa-juvenile-cataract-short-stature-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17730/retinitis-pigmentosa-juvenile-cataract-short-stature-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17731/combined-immunodeficiency-enteropathy-spectrum
https://rarediseases.info.nih.gov/diseases/17731/combined-immunodeficiency-enteropathy-spectrum/diagnosis
https://rarediseases.info.nih.gov/diseases/17732/autosomal-recessive-primary-immunodeficiency-with-defective-spontaneous-natural-killer-cell-cytotoxicity
https://rarediseases.info.nih.gov/diseases/17732/autosomal-recessive-primary-immunodeficiency-with-defective-spontaneous-natural-killer-cell-cytotoxicity/diagnosis
https://rarediseases.info.nih.gov/diseases/17733/ketoacidosis-due-to-monocarboxylate-transporter-1-deficiency
https://rarediseases.info.nih.gov/diseases/17733/ketoacidosis-due-to-monocarboxylate-transporter-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17734/rars-related-autosomal-recessive-hypomyelinating-leukodystrophy
https://rarediseases.info.nih.gov/diseases/17734/rars-related-autosomal-recessive-hypomyelinating-leukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17735/steel-syndrome
https://rarediseases.info.nih.gov/diseases/17735/steel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17736/pcna-related-progressive-neurodegenerative-photosensitivity-syndrome
https://rarediseases.info.nih.gov/diseases/17736/pcna-related-progressive-neurodegenerative-photosensitivity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17737/stat3-related-early-onset-multisystem-autoimmune-disease
https://rarediseases.info.nih.gov/diseases/17737/stat3-related-early-onset-multisystem-autoimmune-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17738/severe-autosomal-recessive-macrothrombocytopenia
https://rarediseases.info.nih.gov/diseases/17738/severe-autosomal-recessive-macrothrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/17740/pura-related-severe-neonatal-hypotonia-seizures-encephalopathy-syndrome-due-to-a-point-mutation
https://rarediseases.info.nih.gov/diseases/17740/pura-related-severe-neonatal-hypotonia-seizures-encephalopathy-syndrome-due-to-a-point-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/17741/itm2b-amyloidosis
https://rarediseases.info.nih.gov/diseases/17741/itm2b-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17742/pde4d-haploinsufficiency-syndrome
https://rarediseases.info.nih.gov/diseases/17742/pde4d-haploinsufficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17743/lethal-fetal-cerebrorenogenitourinary-agenesishypoplasia-syndrome
https://rarediseases.info.nih.gov/diseases/17743/lethal-fetal-cerebrorenogenitourinary-agenesishypoplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17744/interstitial-lung-disease-due-to-sp-c-deficiency
https://rarediseases.info.nih.gov/diseases/17744/interstitial-lung-disease-due-to-sp-c-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17745/interstitial-lung-disease-due-to-abca3-deficiency
https://rarediseases.info.nih.gov/diseases/17745/interstitial-lung-disease-due-to-abca3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17746/severe-early-onset-pulmonary-alveolar-proteinosis-due-to-mars-deficiency
https://rarediseases.info.nih.gov/diseases/17746/severe-early-onset-pulmonary-alveolar-proteinosis-due-to-mars-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17747/ribose-5-p-isomerase-deficiency
https://rarediseases.info.nih.gov/diseases/17747/ribose-5-p-isomerase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17748/l-ferritin-deficiency
https://rarediseases.info.nih.gov/diseases/17748/l-ferritin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17750/familial-porphyria-cutanea-tarda
https://rarediseases.info.nih.gov/diseases/17750/familial-porphyria-cutanea-tarda/diagnosis
https://rarediseases.info.nih.gov/diseases/17751/charcot-marie-tooth-disease-type-2s
https://rarediseases.info.nih.gov/diseases/17751/charcot-marie-tooth-disease-type-2s/diagnosis
https://rarediseases.info.nih.gov/diseases/17753/hyperostosis-cranialis-interna
https://rarediseases.info.nih.gov/diseases/17753/hyperostosis-cranialis-interna/diagnosis
https://rarediseases.info.nih.gov/diseases/17755/x-linked-erythropoietic-protoporphyria
https://rarediseases.info.nih.gov/diseases/17755/x-linked-erythropoietic-protoporphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/17757/ventriculomegaly-cystic-kidney-disease
https://rarediseases.info.nih.gov/diseases/17757/ventriculomegaly-cystic-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17758/mandibulofacial-dysostosis-with-alopecia
https://rarediseases.info.nih.gov/diseases/17758/mandibulofacial-dysostosis-with-alopecia/diagnosis
https://rarediseases.info.nih.gov/diseases/17759/combined-oxidative-phosphorylation-defect-type-23
https://rarediseases.info.nih.gov/diseases/17759/combined-oxidative-phosphorylation-defect-type-23/diagnosis
https://rarediseases.info.nih.gov/diseases/17760/46xx-ovarian-dysgenesis-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/17760/46xx-ovarian-dysgenesis-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17761/cerebellar-facial-dental-syndrome
https://rarediseases.info.nih.gov/diseases/17761/cerebellar-facial-dental-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17762/autoimmune-interstitial-lung-disease-arthritis-syndrome
https://rarediseases.info.nih.gov/diseases/17762/autoimmune-interstitial-lung-disease-arthritis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17763/autosomal-dominant-spastic-paraplegia-type-73
https://rarediseases.info.nih.gov/diseases/17763/autosomal-dominant-spastic-paraplegia-type-73/diagnosis
https://rarediseases.info.nih.gov/diseases/17764/peeling-skin-leukonychia-acral-punctate-keratoses-cheilitis-knuckle-pads-syndrome
https://rarediseases.info.nih.gov/diseases/17764/peeling-skin-leukonychia-acral-punctate-keratoses-cheilitis-knuckle-pads-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17765/combined-oxidative-phosphorylation-defect-type-24
https://rarediseases.info.nih.gov/diseases/17765/combined-oxidative-phosphorylation-defect-type-24/diagnosis
https://rarediseases.info.nih.gov/diseases/17766/autoimmune-hemolytic-anemia-autoimmune-thrombocytopenia-primary-immunodeficiency-syndrome
https://rarediseases.info.nih.gov/diseases/17766/autoimmune-hemolytic-anemia-autoimmune-thrombocytopenia-primary-immunodeficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17767/3-methylglutaconic-aciduria-type-7
https://rarediseases.info.nih.gov/diseases/17767/3-methylglutaconic-aciduria-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/17768/juvenile-onset-diabetes-mellitus-central-and-peripheral-neurodegeneration-syndrome
https://rarediseases.info.nih.gov/diseases/17768/juvenile-onset-diabetes-mellitus-central-and-peripheral-neurodegeneration-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17769/limb-girdle-muscular-dystrophy-due-to-pomk-deficiency
https://rarediseases.info.nih.gov/diseases/17769/limb-girdle-muscular-dystrophy-due-to-pomk-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17770/autosomal-recessive-spastic-paraplegia-type-9b
https://rarediseases.info.nih.gov/diseases/17770/autosomal-recessive-spastic-paraplegia-type-9b/diagnosis
https://rarediseases.info.nih.gov/diseases/17771/mitochondrial-pyruvate-carrier-deficiency
https://rarediseases.info.nih.gov/diseases/17771/mitochondrial-pyruvate-carrier-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17775/combined-oxidative-phosphorylation-defect-type-25
https://rarediseases.info.nih.gov/diseases/17775/combined-oxidative-phosphorylation-defect-type-25/diagnosis
https://rarediseases.info.nih.gov/diseases/17776/pigmentation-defects-palmoplantar-keratoderma-skin-carcinoma-syndrome
https://rarediseases.info.nih.gov/diseases/17776/pigmentation-defects-palmoplantar-keratoderma-skin-carcinoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17777/autosomal-dominant-charcot-marie-tooth-disease-type-2v
https://rarediseases.info.nih.gov/diseases/17777/autosomal-dominant-charcot-marie-tooth-disease-type-2v/diagnosis
https://rarediseases.info.nih.gov/diseases/17778/klippel-feil-anomaly-myopathy-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17778/klippel-feil-anomaly-myopathy-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17779/progressive-scapulohumeroperoneal-distal-myopathy
https://rarediseases.info.nih.gov/diseases/17779/progressive-scapulohumeroperoneal-distal-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17780/progressive-autosomal-recessive-ataxia-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/17780/progressive-autosomal-recessive-ataxia-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17782/regressive-spondylometaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/17782/regressive-spondylometaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17783/symptomatic-form-of-fragile-x-syndrome-in-female-carriers
https://rarediseases.info.nih.gov/diseases/17783/symptomatic-form-of-fragile-x-syndrome-in-female-carriers/diagnosis
https://rarediseases.info.nih.gov/diseases/17784/familial-congenital-nasolacrimal-duct-obstruction
https://rarediseases.info.nih.gov/diseases/17784/familial-congenital-nasolacrimal-duct-obstruction/diagnosis
https://rarediseases.info.nih.gov/diseases/17785/neurodevelopmental-disorder-craniofacial-dysmorphism-cardiac-defect-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17785/neurodevelopmental-disorder-craniofacial-dysmorphism-cardiac-defect-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17786/autosomal-recessive-cerebellar-ataxia-due-to-cwf19l1-deficiency
https://rarediseases.info.nih.gov/diseases/17786/autosomal-recessive-cerebellar-ataxia-due-to-cwf19l1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17787/polyendocrine-polyneuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/17787/polyendocrine-polyneuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17790/nthl1-related-attenuated-familial-adenomatous-polyposis
https://rarediseases.info.nih.gov/diseases/17790/nthl1-related-attenuated-familial-adenomatous-polyposis/diagnosis
https://rarediseases.info.nih.gov/diseases/17791/infantile-multisystem-neurologic-endocrine-pancreatic-disease
https://rarediseases.info.nih.gov/diseases/17791/infantile-multisystem-neurologic-endocrine-pancreatic-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17792/x-linked-myotubular-myopathy-abnormal-genitalia-syndrome
https://rarediseases.info.nih.gov/diseases/17792/x-linked-myotubular-myopathy-abnormal-genitalia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17793/polyglucosan-body-myopathy-type-2
https://rarediseases.info.nih.gov/diseases/17793/polyglucosan-body-myopathy-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/17794/autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance
https://rarediseases.info.nih.gov/diseases/17794/autosomal-dominant-mitochondrial-myopathy-with-exercise-intolerance/diagnosis
https://rarediseases.info.nih.gov/diseases/17796/neonatal-encephalomyopathy-cardiomyopathy-respiratory-distress-syndrome
https://rarediseases.info.nih.gov/diseases/17796/neonatal-encephalomyopathy-cardiomyopathy-respiratory-distress-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17797/autosomal-dominant-intellectual-disability-craniofacial-anomalies-cardiac-defects-syndrome
https://rarediseases.info.nih.gov/diseases/17797/autosomal-dominant-intellectual-disability-craniofacial-anomalies-cardiac-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17798/progressive-essential-tremor-speech-impairment-facial-dysmorphism-intellectual-disability-abnormal-behavior-syndrome
https://rarediseases.info.nih.gov/diseases/17798/progressive-essential-tremor-speech-impairment-facial-dysmorphism-intellectual-disability-abnormal-behavior-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17799/syndromic-sensorineural-deafness-due-to-combined-oxidative-phosphorylation-defect
https://rarediseases.info.nih.gov/diseases/17799/syndromic-sensorineural-deafness-due-to-combined-oxidative-phosphorylation-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/178/momo-syndrome
https://rarediseases.info.nih.gov/diseases/178/momo-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17800/x-linked-intellectual-disability-short-stature-overweight-syndrome
https://rarediseases.info.nih.gov/diseases/17800/x-linked-intellectual-disability-short-stature-overweight-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17801/progressive-myoclonic-epilepsy-type-9
https://rarediseases.info.nih.gov/diseases/17801/progressive-myoclonic-epilepsy-type-9/diagnosis
https://rarediseases.info.nih.gov/diseases/17802/intellectual-disability-macrocephaly-hypotonia-behavioral-abnormalities-syndrome
https://rarediseases.info.nih.gov/diseases/17802/intellectual-disability-macrocephaly-hypotonia-behavioral-abnormalities-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17803/microcephaly-corpus-callosum-hypoplasia-intellectual-disability-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17803/microcephaly-corpus-callosum-hypoplasia-intellectual-disability-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17804/microcephaly-intellectual-disability-sensorineural-hearing-loss-epilepsy-abnormal-muscle-tone-syndrome
https://rarediseases.info.nih.gov/diseases/17804/microcephaly-intellectual-disability-sensorineural-hearing-loss-epilepsy-abnormal-muscle-tone-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17805/megalencephaly-severe-kyphoscoliosis-overgrowth-syndrome
https://rarediseases.info.nih.gov/diseases/17805/megalencephaly-severe-kyphoscoliosis-overgrowth-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17806/itpa-related-lethal-infantile-neurological-disorder-with-cataract-and-cardiac-involvement
https://rarediseases.info.nih.gov/diseases/17806/itpa-related-lethal-infantile-neurological-disorder-with-cataract-and-cardiac-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/17807/complex-lethal-osteochondrodysplasia
https://rarediseases.info.nih.gov/diseases/17807/complex-lethal-osteochondrodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17808/progressive-spondyloepimetaphyseal-dysplasia-short-stature-short-fourth-metatarsals-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17808/progressive-spondyloepimetaphyseal-dysplasia-short-stature-short-fourth-metatarsals-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17809/multiple-mitochondrial-dysfunctions-syndrome-type-4
https://rarediseases.info.nih.gov/diseases/17809/multiple-mitochondrial-dysfunctions-syndrome-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/17810/spinocerebellar-ataxia-type-41
https://rarediseases.info.nih.gov/diseases/17810/spinocerebellar-ataxia-type-41/diagnosis
https://rarediseases.info.nih.gov/diseases/17811/spinocerebellar-ataxia-type-42
https://rarediseases.info.nih.gov/diseases/17811/spinocerebellar-ataxia-type-42/diagnosis
https://rarediseases.info.nih.gov/diseases/17812/spondyloepiphyseal-dysplasia-stanescu-type
https://rarediseases.info.nih.gov/diseases/17812/spondyloepiphyseal-dysplasia-stanescu-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17813/autosomal-recessive-spastic-paraplegia-type-75
https://rarediseases.info.nih.gov/diseases/17813/autosomal-recessive-spastic-paraplegia-type-75/diagnosis
https://rarediseases.info.nih.gov/diseases/17814/craniofacial-dysplasia-short-stature-ectodermal-anomalies-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17814/craniofacial-dysplasia-short-stature-ectodermal-anomalies-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17815/x-linked-intellectual-disability-cerebellar-hypoplasia-spondylo-epiphyseal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/17815/x-linked-intellectual-disability-cerebellar-hypoplasia-spondylo-epiphyseal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17816/spastic-paraplegia-severe-developmental-delay-epilepsy-syndrome
https://rarediseases.info.nih.gov/diseases/17816/spastic-paraplegia-severe-developmental-delay-epilepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17817/short-stature-brachydactyly-obesity-global-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17817/short-stature-brachydactyly-obesity-global-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17818/nek9-related-lethal-skeletal-dysplasia
https://rarediseases.info.nih.gov/diseases/17818/nek9-related-lethal-skeletal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17819/primary-dystonia-dyt27-type
https://rarediseases.info.nih.gov/diseases/17819/primary-dystonia-dyt27-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17820/fever-associated-acute-infantile-liver-failure-syndrome
https://rarediseases.info.nih.gov/diseases/17820/fever-associated-acute-infantile-liver-failure-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17821/basel-vanagaite-smirin-yosef-syndrome
https://rarediseases.info.nih.gov/diseases/17821/basel-vanagaite-smirin-yosef-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17822/familial-cavitary-optic-disc-anomaly
https://rarediseases.info.nih.gov/diseases/17822/familial-cavitary-optic-disc-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/17823/fetal-encasement-syndrome
https://rarediseases.info.nih.gov/diseases/17823/fetal-encasement-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17824/severe-intellectual-disability-corpus-callosum-agenesis-facial-dysmorphism-cerebellar-ataxia-syndrome
https://rarediseases.info.nih.gov/diseases/17824/severe-intellectual-disability-corpus-callosum-agenesis-facial-dysmorphism-cerebellar-ataxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17825/tmem199-cdg
https://rarediseases.info.nih.gov/diseases/17825/tmem199-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/17826/martinique-crinkled-retinal-pigment-epitheliopathy
https://rarediseases.info.nih.gov/diseases/17826/martinique-crinkled-retinal-pigment-epitheliopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17827/autosomal-recessive-spastic-paraplegia-type-77
https://rarediseases.info.nih.gov/diseases/17827/autosomal-recessive-spastic-paraplegia-type-77/diagnosis
https://rarediseases.info.nih.gov/diseases/17829/autosomal-dominant-charcot-marie-tooth-disease-type-2z
https://rarediseases.info.nih.gov/diseases/17829/autosomal-dominant-charcot-marie-tooth-disease-type-2z/diagnosis
https://rarediseases.info.nih.gov/diseases/17830/autosomal-recessive-charcot-marie-tooth-disease-type-2x
https://rarediseases.info.nih.gov/diseases/17830/autosomal-recessive-charcot-marie-tooth-disease-type-2x/diagnosis
https://rarediseases.info.nih.gov/diseases/17831/neonatal-severe-cardiopulmonary-failure-due-to-mitochondrial-methylation-defect
https://rarediseases.info.nih.gov/diseases/17831/neonatal-severe-cardiopulmonary-failure-due-to-mitochondrial-methylation-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/17832/macrocephaly-intellectual-disability-left-ventricular-non-compaction-syndrome
https://rarediseases.info.nih.gov/diseases/17832/macrocephaly-intellectual-disability-left-ventricular-non-compaction-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17833/acute-infantile-liver-failure-cerebellar-ataxia-peripheral-sensory-motor-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/17833/acute-infantile-liver-failure-cerebellar-ataxia-peripheral-sensory-motor-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17834/lims2-related-limb-girdle-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/17834/lims2-related-limb-girdle-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17836/seizures-scoliosis-macrocephaly-syndrome
https://rarediseases.info.nih.gov/diseases/17836/seizures-scoliosis-macrocephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17837/vps11-related-autosomal-recessive-hypomyelinating-leukodystrophy
https://rarediseases.info.nih.gov/diseases/17837/vps11-related-autosomal-recessive-hypomyelinating-leukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17838/wac-related-facial-dysmorphism-developmental-delay-behavioral-abnormalities-syndrome
https://rarediseases.info.nih.gov/diseases/17838/wac-related-facial-dysmorphism-developmental-delay-behavioral-abnormalities-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17839/facial-dysmorphism-developmental-delay-behavioral-abnormalities-syndrome-due-to-wac-point-mutation
https://rarediseases.info.nih.gov/diseases/17839/facial-dysmorphism-developmental-delay-behavioral-abnormalities-syndrome-due-to-wac-point-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/17840/severe-hypotonia-psychomotor-developmental-delay-strabismus-cardiac-septal-defect-syndrome
https://rarediseases.info.nih.gov/diseases/17840/severe-hypotonia-psychomotor-developmental-delay-strabismus-cardiac-septal-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17841/microcephalic-cortical-malformations-short-stature-due-to-rttn-deficiency
https://rarediseases.info.nih.gov/diseases/17841/microcephalic-cortical-malformations-short-stature-due-to-rttn-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17842/autosomal-recessive-spastic-paraplegia-type-74
https://rarediseases.info.nih.gov/diseases/17842/autosomal-recessive-spastic-paraplegia-type-74/diagnosis
https://rarediseases.info.nih.gov/diseases/17843/isolated-generalized-anhidrosis-with-normal-sweat-glands
https://rarediseases.info.nih.gov/diseases/17843/isolated-generalized-anhidrosis-with-normal-sweat-glands/diagnosis
https://rarediseases.info.nih.gov/diseases/17844/colobomatous-macrophthalmia-microcornea-syndrome
https://rarediseases.info.nih.gov/diseases/17844/colobomatous-macrophthalmia-microcornea-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17845/ccdc115-cdg
https://rarediseases.info.nih.gov/diseases/17845/ccdc115-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/17846/slc39a8-cdg
https://rarediseases.info.nih.gov/diseases/17846/slc39a8-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/17847/bves-related-limb-girdle-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/17847/bves-related-limb-girdle-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17848/hereditary-pediatric-behet-like-disease
https://rarediseases.info.nih.gov/diseases/17848/hereditary-pediatric-behet-like-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17849/combined-immunodeficiency-due-to-tfrc-deficiency
https://rarediseases.info.nih.gov/diseases/17849/combined-immunodeficiency-due-to-tfrc-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17850/micrognathia-recurrent-infections-behavioral-abnormalities-mild-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17850/micrognathia-recurrent-infections-behavioral-abnormalities-mild-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17851/pmp2-related-charcot-marie-tooth-disease-type-1
https://rarediseases.info.nih.gov/diseases/17851/pmp2-related-charcot-marie-tooth-disease-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/17852/il21-related-infantile-inflammatory-bowel-disease
https://rarediseases.info.nih.gov/diseases/17852/il21-related-infantile-inflammatory-bowel-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17853/postnatal-microcephaly-infantile-hypotonia-spastic-diplegia-dysarthria-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17853/postnatal-microcephaly-infantile-hypotonia-spastic-diplegia-dysarthria-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17854/combined-oxidative-phosphorylation-defect-type-26
https://rarediseases.info.nih.gov/diseases/17854/combined-oxidative-phosphorylation-defect-type-26/diagnosis
https://rarediseases.info.nih.gov/diseases/17855/pontine-autosomal-dominant-microangiopathy-with-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/17855/pontine-autosomal-dominant-microangiopathy-with-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17856/combined-oxidative-phosphorylation-defect-type-27
https://rarediseases.info.nih.gov/diseases/17856/combined-oxidative-phosphorylation-defect-type-27/diagnosis
https://rarediseases.info.nih.gov/diseases/17857/cytosolic-phospholipase-a2-alpha-deficiency-associated-bleeding-disorder
https://rarediseases.info.nih.gov/diseases/17857/cytosolic-phospholipase-a2-alpha-deficiency-associated-bleeding-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/17858/progressive-microcephaly-seizures-cortical-blindness-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17858/progressive-microcephaly-seizures-cortical-blindness-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17859/pmp22-rai1-contiguous-gene-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/17859/pmp22-rai1-contiguous-gene-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17860/kosaki-overgrowth-syndrome
https://rarediseases.info.nih.gov/diseases/17860/kosaki-overgrowth-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17862/palatal-anomalies-widely-spaced-teeth-facial-dysmorphism-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17862/palatal-anomalies-widely-spaced-teeth-facial-dysmorphism-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17863/combined-oxidative-phosphorylation-defect-type-29
https://rarediseases.info.nih.gov/diseases/17863/combined-oxidative-phosphorylation-defect-type-29/diagnosis
https://rarediseases.info.nih.gov/diseases/17864/combined-oxidative-phosphorylation-defect-type-30
https://rarediseases.info.nih.gov/diseases/17864/combined-oxidative-phosphorylation-defect-type-30/diagnosis
https://rarediseases.info.nih.gov/diseases/17865/lethal-left-ventricular-non-compaction-seizures-hypotonia-cataract-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17865/lethal-left-ventricular-non-compaction-seizures-hypotonia-cataract-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17866/hereditary-sensory-and-autonomic-neuropathy-type-8
https://rarediseases.info.nih.gov/diseases/17866/hereditary-sensory-and-autonomic-neuropathy-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/17869/poglut1-related-limb-girdle-muscular-dystrophy-r21
https://rarediseases.info.nih.gov/diseases/17869/poglut1-related-limb-girdle-muscular-dystrophy-r21/diagnosis
https://rarediseases.info.nih.gov/diseases/17870/hereditary-thrombocytopenia-with-early-onset-myelofibrosis
https://rarediseases.info.nih.gov/diseases/17870/hereditary-thrombocytopenia-with-early-onset-myelofibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17871/global-developmental-delay-visual-anomalies-progressive-cerebellar-atrophy-truncal-hypotonia-syndrome
https://rarediseases.info.nih.gov/diseases/17871/global-developmental-delay-visual-anomalies-progressive-cerebellar-atrophy-truncal-hypotonia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17872/x-linked-intellectual-disability-global-development-delay-facial-dysmorphism-sacral-caudal-remnant-syndrome
https://rarediseases.info.nih.gov/diseases/17872/x-linked-intellectual-disability-global-development-delay-facial-dysmorphism-sacral-caudal-remnant-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17873/pycr2-related-microcephaly-progressive-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/17873/pycr2-related-microcephaly-progressive-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17874/familial-chilblain-lupus
https://rarediseases.info.nih.gov/diseases/17874/familial-chilblain-lupus/diagnosis
https://rarediseases.info.nih.gov/diseases/17875/usp18-deficiency
https://rarediseases.info.nih.gov/diseases/17875/usp18-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17877/htra1-related-autosomal-dominant-cerebral-small-vessel-disease
https://rarediseases.info.nih.gov/diseases/17877/htra1-related-autosomal-dominant-cerebral-small-vessel-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/17878/adenylosuccinate-synthetase-like-1-related-distal-myopathy
https://rarediseases.info.nih.gov/diseases/17878/adenylosuccinate-synthetase-like-1-related-distal-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17880/clcn4-related-x-linked-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17880/clcn4-related-x-linked-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17882/prenatal-onset-spinal-muscular-atrophy-with-congenital-bone-fractures
https://rarediseases.info.nih.gov/diseases/17882/prenatal-onset-spinal-muscular-atrophy-with-congenital-bone-fractures/diagnosis
https://rarediseases.info.nih.gov/diseases/17883/congenital-muscular-dystrophy-respiratory-failure-skin-abnormalities-joint-hyperlaxity-syndrome
https://rarediseases.info.nih.gov/diseases/17883/congenital-muscular-dystrophy-respiratory-failure-skin-abnormalities-joint-hyperlaxity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17884/macrothrombocytopenia-lymphedema-developmental-delay-facial-dysmorphism-camptodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/17884/macrothrombocytopenia-lymphedema-developmental-delay-facial-dysmorphism-camptodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17885/pierpont-syndrome
https://rarediseases.info.nih.gov/diseases/17885/pierpont-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17886/microcephaly-congenital-cataract-psoriasiform-dermatitis-syndrome
https://rarediseases.info.nih.gov/diseases/17886/microcephaly-congenital-cataract-psoriasiform-dermatitis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17887/female-infertility-due-to-oocyte-meiotic-arrest
https://rarediseases.info.nih.gov/diseases/17887/female-infertility-due-to-oocyte-meiotic-arrest/diagnosis
https://rarediseases.info.nih.gov/diseases/17888/familial-progressive-retinal-dystrophy-iris-coloboma-congenital-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/17888/familial-progressive-retinal-dystrophy-iris-coloboma-congenital-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17889/split-foot-malformation-mesoaxial-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/17889/split-foot-malformation-mesoaxial-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17890/14q32-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/17890/14q32-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17891/autosomal-dominant-charcot-marie-tooth-disease-type-2w
https://rarediseases.info.nih.gov/diseases/17891/autosomal-dominant-charcot-marie-tooth-disease-type-2w/diagnosis
https://rarediseases.info.nih.gov/diseases/17892/autosomal-recessive-spastic-paraplegia-type-76
https://rarediseases.info.nih.gov/diseases/17892/autosomal-recessive-spastic-paraplegia-type-76/diagnosis
https://rarediseases.info.nih.gov/diseases/17893/global-developmental-delay-neuro-ophthalmological-abnormalities-seizures-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17893/global-developmental-delay-neuro-ophthalmological-abnormalities-seizures-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17894/transketolase-deficiency
https://rarediseases.info.nih.gov/diseases/17894/transketolase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17895/severe-growth-deficiency-strabismus-extensive-dermal-melanocytosis-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17895/severe-growth-deficiency-strabismus-extensive-dermal-melanocytosis-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17896/tbck-related-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17896/tbck-related-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17898/telo2-related-intellectual-disability-neurodevelopmental-disorder
https://rarediseases.info.nih.gov/diseases/17898/telo2-related-intellectual-disability-neurodevelopmental-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/17899/ddx41-related-hematologic-malignancy-predisposition-syndrome
https://rarediseases.info.nih.gov/diseases/17899/ddx41-related-hematologic-malignancy-predisposition-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17900/distal-myopathy-tateyama-type
https://rarediseases.info.nih.gov/diseases/17900/distal-myopathy-tateyama-type/diagnosis
https://rarediseases.info.nih.gov/diseases/17901/vibratory-angioedema
https://rarediseases.info.nih.gov/diseases/17901/vibratory-angioedema/diagnosis
https://rarediseases.info.nih.gov/diseases/17902/rere-related-neurodevelopmental-syndrome
https://rarediseases.info.nih.gov/diseases/17902/rere-related-neurodevelopmental-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17903/retinitis-pigmentosa-hearing-loss-premature-aging-short-stature-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17903/retinitis-pigmentosa-hearing-loss-premature-aging-short-stature-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17904/diaph1-related-sensorineural-hearing-loss-thrombocytopenia-syndrome
https://rarediseases.info.nih.gov/diseases/17904/diaph1-related-sensorineural-hearing-loss-thrombocytopenia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17905/infantile-onset-generalized-dyskinesia-with-orofacial-involvement
https://rarediseases.info.nih.gov/diseases/17905/infantile-onset-generalized-dyskinesia-with-orofacial-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/17906/childhood-onset-benign-chorea-with-striatal-involvement
https://rarediseases.info.nih.gov/diseases/17906/childhood-onset-benign-chorea-with-striatal-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/17909/charcot-marie-tooth-disease-type-2t
https://rarediseases.info.nih.gov/diseases/17909/charcot-marie-tooth-disease-type-2t/diagnosis
https://rarediseases.info.nih.gov/diseases/17910/c11orf73-related-autosomal-recessive-hypomyelinating-leukodystrophy
https://rarediseases.info.nih.gov/diseases/17910/c11orf73-related-autosomal-recessive-hypomyelinating-leukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17911/early-onset-progressive-diffuse-brain-atrophy-microcephaly-muscle-weakness-optic-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17911/early-onset-progressive-diffuse-brain-atrophy-microcephaly-muscle-weakness-optic-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17912/kyphosis-lateral-tongue-atrophy-myofibrillar-myopathy-syndrome
https://rarediseases.info.nih.gov/diseases/17912/kyphosis-lateral-tongue-atrophy-myofibrillar-myopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17913/even-plus-syndrome
https://rarediseases.info.nih.gov/diseases/17913/even-plus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17914/early-onset-progressive-encephalopathy-spastic-ataxia-distal-spinal-muscular-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17914/early-onset-progressive-encephalopathy-spastic-ataxia-distal-spinal-muscular-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17915/ocular-anomalies-axonal-neuropathy-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17915/ocular-anomalies-axonal-neuropathy-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17916/mme-related-autosomal-dominant-charcot-marie-tooth-disease-type-2
https://rarediseases.info.nih.gov/diseases/17916/mme-related-autosomal-dominant-charcot-marie-tooth-disease-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/17917/spinocerebellar-ataxia-type-43
https://rarediseases.info.nih.gov/diseases/17917/spinocerebellar-ataxia-type-43/diagnosis
https://rarediseases.info.nih.gov/diseases/17918/childhood-onset-basal-ganglia-degeneration-syndrome
https://rarediseases.info.nih.gov/diseases/17918/childhood-onset-basal-ganglia-degeneration-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17921/tall-stature-intellectual-disability-renal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17921/tall-stature-intellectual-disability-renal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17922/multinucleated-neurons-anhydramnios-renal-dysplasia-cerebellar-hypoplasia-hydranencephaly-syndrome
https://rarediseases.info.nih.gov/diseases/17922/multinucleated-neurons-anhydramnios-renal-dysplasia-cerebellar-hypoplasia-hydranencephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17923/early-onset-progressive-encephalopathy-hearing-loss-pons-hypoplasia-brain-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17923/early-onset-progressive-encephalopathy-hearing-loss-pons-hypoplasia-brain-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17924/microcephaly-corpus-callosum-and-cerebellar-vermis-hypoplasia-facial-dysmorphism-intellectual-disability-syndrom
https://rarediseases.info.nih.gov/diseases/17924/microcephaly-corpus-callosum-and-cerebellar-vermis-hypoplasia-facial-dysmorphism-intellectual-disability-syndrom/diagnosis
https://rarediseases.info.nih.gov/diseases/17926/x-linked-external-auditory-canal-atresia-dilated-internal-auditory-canal-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17926/x-linked-external-auditory-canal-atresia-dilated-internal-auditory-canal-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17930/severe-neurodevelopmental-disorder-with-feeding-difficulties-stereotypic-hand-movement-bilateral-cataract
https://rarediseases.info.nih.gov/diseases/17930/severe-neurodevelopmental-disorder-with-feeding-difficulties-stereotypic-hand-movement-bilateral-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/17931/osteosclerotic-metaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/17931/osteosclerotic-metaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/17934/mitochondrial-myopathy-cerebellar-ataxia-pigmentary-retinopathy-syndrome
https://rarediseases.info.nih.gov/diseases/17934/mitochondrial-myopathy-cerebellar-ataxia-pigmentary-retinopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17935/stag1-related-intellectual-disability-facial-dysmorphism-gastroesophageal-reflux-syndrome
https://rarediseases.info.nih.gov/diseases/17935/stag1-related-intellectual-disability-facial-dysmorphism-gastroesophageal-reflux-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17936/alkaline-ceramidase-3-deficiency
https://rarediseases.info.nih.gov/diseases/17936/alkaline-ceramidase-3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17937/cerebellar-ataxia-with-neuropathy-and-bilateral-vestibular-areflexia-syndrome
https://rarediseases.info.nih.gov/diseases/17937/cerebellar-ataxia-with-neuropathy-and-bilateral-vestibular-areflexia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17938/severe-combined-immunodeficiency-due-to-lat-deficiency
https://rarediseases.info.nih.gov/diseases/17938/severe-combined-immunodeficiency-due-to-lat-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17939/combined-immunodeficiency-due-to-moesin-deficiency
https://rarediseases.info.nih.gov/diseases/17939/combined-immunodeficiency-due-to-moesin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17940/3-methylglutaconic-aciduria-type-9
https://rarediseases.info.nih.gov/diseases/17940/3-methylglutaconic-aciduria-type-9/diagnosis
https://rarediseases.info.nih.gov/diseases/17941/combined-immunodeficiency-due-to-gins1-deficiency
https://rarediseases.info.nih.gov/diseases/17941/combined-immunodeficiency-due-to-gins1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17942/early-onset-seizures-distal-limb-anomalies-facial-dysmorphism-global-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17942/early-onset-seizures-distal-limb-anomalies-facial-dysmorphism-global-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17943/psychomotor-regression-oculomotor-apraxia-movement-disorder-nephropathy-syndrome
https://rarediseases.info.nih.gov/diseases/17943/psychomotor-regression-oculomotor-apraxia-movement-disorder-nephropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17944/mucopolysaccharidosis-like-syndrome-with-congenital-heart-defects-and-hematopoietic-disorders
https://rarediseases.info.nih.gov/diseases/17944/mucopolysaccharidosis-like-syndrome-with-congenital-heart-defects-and-hematopoietic-disorders/diagnosis
https://rarediseases.info.nih.gov/diseases/17945/stromme-syndrome
https://rarediseases.info.nih.gov/diseases/17945/stromme-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17946/autosomal-recessive-complex-spastic-paraplegia-due-to-kennedy-pathway-dysfunction
https://rarediseases.info.nih.gov/diseases/17946/autosomal-recessive-complex-spastic-paraplegia-due-to-kennedy-pathway-dysfunction/diagnosis
https://rarediseases.info.nih.gov/diseases/17947/gabriele-de-vries-syndrome
https://rarediseases.info.nih.gov/diseases/17947/gabriele-de-vries-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17948/intellectual-disability-cardiac-anomalies-short-stature-joint-laxity-syndrome
https://rarediseases.info.nih.gov/diseases/17948/intellectual-disability-cardiac-anomalies-short-stature-joint-laxity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17949/intrauterine-growth-restriction-congenital-multiple-caf-au-lait-macules-increased-sister-chromatid-exchange-syndrome
https://rarediseases.info.nih.gov/diseases/17949/intrauterine-growth-restriction-congenital-multiple-caf-au-lait-macules-increased-sister-chromatid-exchange-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17950/hyperphenylalaninemia-due-to-dnajc12-deficiency
https://rarediseases.info.nih.gov/diseases/17950/hyperphenylalaninemia-due-to-dnajc12-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17951/intermediate-epidermolysis-bullosa-simplex-with-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/17951/intermediate-epidermolysis-bullosa-simplex-with-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17952/autosomal-recessive-spastic-paraplegia-type-78
https://rarediseases.info.nih.gov/diseases/17952/autosomal-recessive-spastic-paraplegia-type-78/diagnosis
https://rarediseases.info.nih.gov/diseases/17953/intellectual-disability-seizures-abnormal-gait-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17953/intellectual-disability-seizures-abnormal-gait-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17954/autosomal-recessive-anterior-segment-dysgenesis
https://rarediseases.info.nih.gov/diseases/17954/autosomal-recessive-anterior-segment-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/17955/xq25-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/17955/xq25-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17956/proximal-myopathy-with-focal-depletion-of-mitochondria
https://rarediseases.info.nih.gov/diseases/17956/proximal-myopathy-with-focal-depletion-of-mitochondria/diagnosis
https://rarediseases.info.nih.gov/diseases/17957/spastic-paraplegia-intellectual-disability-nystagmus-obesity-syndrome
https://rarediseases.info.nih.gov/diseases/17957/spastic-paraplegia-intellectual-disability-nystagmus-obesity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17958/dystonia-parkinsonism-hypermanganesemia-syndrome
https://rarediseases.info.nih.gov/diseases/17958/dystonia-parkinsonism-hypermanganesemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17959/autosomal-dominant-charcot-marie-tooth-disease-type-2dd
https://rarediseases.info.nih.gov/diseases/17959/autosomal-dominant-charcot-marie-tooth-disease-type-2dd/diagnosis
https://rarediseases.info.nih.gov/diseases/17960/plaa-associated-neurodevelopmental-disorder
https://rarediseases.info.nih.gov/diseases/17960/plaa-associated-neurodevelopmental-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/17961/congenital-vertebral-cardiac-renal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17961/congenital-vertebral-cardiac-renal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17962/infantile-hypotonia-oculomotor-anomalies-hyperkinetic-movements-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17962/infantile-hypotonia-oculomotor-anomalies-hyperkinetic-movements-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17963/severe-myopia-generalized-joint-laxity-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/17963/severe-myopia-generalized-joint-laxity-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17964/nkx6-2-related-autosomal-recessive-hypomyelinating-leukodystrophy
https://rarediseases.info.nih.gov/diseases/17964/nkx6-2-related-autosomal-recessive-hypomyelinating-leukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/17965/non-specific-syndromic-intellectual-disability
https://rarediseases.info.nih.gov/diseases/17965/non-specific-syndromic-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/17966/hydrops-lactic-acidosis-sideroblastic-anemia-multisystemic-failure-syndrome
https://rarediseases.info.nih.gov/diseases/17966/hydrops-lactic-acidosis-sideroblastic-anemia-multisystemic-failure-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17967/hypohidrosis-electrolyte-imbalance-lacrimal-gland-dysfunction-ichthyosis-xerostomia-syndrome
https://rarediseases.info.nih.gov/diseases/17967/hypohidrosis-electrolyte-imbalance-lacrimal-gland-dysfunction-ichthyosis-xerostomia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17968/duane-retraction-syndrome-with-congenital-deafness
https://rarediseases.info.nih.gov/diseases/17968/duane-retraction-syndrome-with-congenital-deafness/diagnosis
https://rarediseases.info.nih.gov/diseases/17969/neurodevelopmental-delay-seizures-ophthalmic-anomalies-osteopenia-cerebellar-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17969/neurodevelopmental-delay-seizures-ophthalmic-anomalies-osteopenia-cerebellar-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17970/intellectual-disability-autism-speech-apraxia-craniofacial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/17970/intellectual-disability-autism-speech-apraxia-craniofacial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17975/classical-like-ehlers-danlos-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/17975/classical-like-ehlers-danlos-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/17976/autosomal-recessive-lethal-neonatal-axonal-sensorimotor-polyneuropathy
https://rarediseases.info.nih.gov/diseases/17976/autosomal-recessive-lethal-neonatal-axonal-sensorimotor-polyneuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17977/palmoplantar-keratoderma-hereditary-motor-and-sensory-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/17977/palmoplantar-keratoderma-hereditary-motor-and-sensory-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17978/combined-immunodeficiency-due-to-cd70-deficiency
https://rarediseases.info.nih.gov/diseases/17978/combined-immunodeficiency-due-to-cd70-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17979/combined-immunodeficiency-due-to-itk-deficiency
https://rarediseases.info.nih.gov/diseases/17979/combined-immunodeficiency-due-to-itk-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17980/growth-delay-intellectual-disability-hepatopathy-syndrome
https://rarediseases.info.nih.gov/diseases/17980/growth-delay-intellectual-disability-hepatopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17981/combined-immunodeficiency-due-to-carmil2-deficiency
https://rarediseases.info.nih.gov/diseases/17981/combined-immunodeficiency-due-to-carmil2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17982/gnb5-related-intellectual-disability-cardiac-arrhythmia-syndrome
https://rarediseases.info.nih.gov/diseases/17982/gnb5-related-intellectual-disability-cardiac-arrhythmia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17983/auditory-neuropathy-optic-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/17983/auditory-neuropathy-optic-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17984/isolated-hyperchlorhidrosis
https://rarediseases.info.nih.gov/diseases/17984/isolated-hyperchlorhidrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/17985/prune1-related-neurological-syndrome
https://rarediseases.info.nih.gov/diseases/17985/prune1-related-neurological-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17987/global-developmental-delay-alopecia-macrocephaly-facial-dysmorphism-structural-brain-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/17987/global-developmental-delay-alopecia-macrocephaly-facial-dysmorphism-structural-brain-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17988/rnf13-related-severe-early-onset-epileptic-encephalopathy
https://rarediseases.info.nih.gov/diseases/17988/rnf13-related-severe-early-onset-epileptic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/17989/congenital-myopathy-with-reduced-type-2-muscle-fibers
https://rarediseases.info.nih.gov/diseases/17989/congenital-myopathy-with-reduced-type-2-muscle-fibers/diagnosis
https://rarediseases.info.nih.gov/diseases/17990/nadphx-dehydratase-deficiency
https://rarediseases.info.nih.gov/diseases/17990/nadphx-dehydratase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17991/nadphx-epimerase-deficiency
https://rarediseases.info.nih.gov/diseases/17991/nadphx-epimerase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17992/pancreatic-agenesis-holoprosencephaly-syndrome
https://rarediseases.info.nih.gov/diseases/17992/pancreatic-agenesis-holoprosencephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17993/oculocerebrodental-syndrome
https://rarediseases.info.nih.gov/diseases/17993/oculocerebrodental-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17994/neonatal-epileptic-encephalopathy-due-to-glutaminase-deficiency
https://rarediseases.info.nih.gov/diseases/17994/neonatal-epileptic-encephalopathy-due-to-glutaminase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17995/heme-oxygenase-1-deficiency
https://rarediseases.info.nih.gov/diseases/17995/heme-oxygenase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/17997/anterior-maxillary-protrusion-strabismus-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/17997/anterior-maxillary-protrusion-strabismus-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/17998/tmem94-associated-congenital-heart-defect-facial-dysmorphism-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/17998/tmem94-associated-congenital-heart-defect-facial-dysmorphism-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/180/myh9-related-disease
https://rarediseases.info.nih.gov/diseases/180/myh9-related-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/18000/infantile-inflammatory-bowel-disease-with-neurological-involvement
https://rarediseases.info.nih.gov/diseases/18000/infantile-inflammatory-bowel-disease-with-neurological-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/18005/galactose-mutarotase-deficiency
https://rarediseases.info.nih.gov/diseases/18005/galactose-mutarotase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/18006/qrsl1-related-combined-oxidative-phosphorylation-defect
https://rarediseases.info.nih.gov/diseases/18006/qrsl1-related-combined-oxidative-phosphorylation-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/18015/qrich1-related-intellectual-disability-chondrodysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/18015/qrich1-related-intellectual-disability-chondrodysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1802/demodicidosis
https://rarediseases.info.nih.gov/diseases/1802/demodicidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1806/dentin-dysplasia-type-ii
https://rarediseases.info.nih.gov/diseases/1806/dentin-dysplasia-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-i
https://rarediseases.info.nih.gov/diseases/1807/dentin-dysplasia-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/1808/dentin-dysplasia-sclerotic-bones-syndrome
https://rarediseases.info.nih.gov/diseases/1808/dentin-dysplasia-sclerotic-bones-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18099/deafness-autosomal-dominant-2a
https://rarediseases.info.nih.gov/diseases/18099/deafness-autosomal-dominant-2a/diagnosis
https://rarediseases.info.nih.gov/diseases/181/stargardt-disease
https://rarediseases.info.nih.gov/diseases/181/stargardt-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1810/radioulnar-synostosis-developmental-delay-hypotonia-syndrome
https://rarediseases.info.nih.gov/diseases/1810/radioulnar-synostosis-developmental-delay-hypotonia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy
https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type
https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1815/dermochondrocorneal-dystrophy
https://rarediseases.info.nih.gov/diseases/1815/dermochondrocorneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1816/dermoodontodysplasia
https://rarediseases.info.nih.gov/diseases/1816/dermoodontodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/1818/desbuquois-syndrome
https://rarediseases.info.nih.gov/diseases/1818/desbuquois-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/182/best-vitelliform-macular-dystrophy
https://rarediseases.info.nih.gov/diseases/182/best-vitelliform-macular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1820/desmoid-tumor
https://rarediseases.info.nih.gov/diseases/1820/desmoid-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/18202/epilepsy-familial-focal-with-variable-foci-1
https://rarediseases.info.nih.gov/diseases/18202/epilepsy-familial-focal-with-variable-foci-1/diagnosis
https://rarediseases.info.nih.gov/diseases/1823/familial-developmental-dysphasia
https://rarediseases.info.nih.gov/diseases/1823/familial-developmental-dysphasia/diagnosis
https://rarediseases.info.nih.gov/diseases/1827/dextrocardia
https://rarediseases.info.nih.gov/diseases/1827/dextrocardia/diagnosis
https://rarediseases.info.nih.gov/diseases/183/bubonic-plague
https://rarediseases.info.nih.gov/diseases/183/bubonic-plague/diagnosis
https://rarediseases.info.nih.gov/diseases/18369/mitochondrial-dna-depletion-syndrome-2-myopathic-type
https://rarediseases.info.nih.gov/diseases/18369/mitochondrial-dna-depletion-syndrome-2-myopathic-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1839/transient-neonatal-diabetes-mellitus
https://rarediseases.info.nih.gov/diseases/1839/transient-neonatal-diabetes-mellitus/diagnosis
https://rarediseases.info.nih.gov/diseases/18396/frontotemporal-dementia-andor-amyotrophic-lateral-sclerosis-1
https://rarediseases.info.nih.gov/diseases/18396/frontotemporal-dementia-andor-amyotrophic-lateral-sclerosis-1/diagnosis
https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome
https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18433/chromosome-xq263-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/18433/chromosome-xq263-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18458/hypotonia-infantile-with-psychomotor-impairment-and-characteristic-facies-2
https://rarediseases.info.nih.gov/diseases/18458/hypotonia-infantile-with-psychomotor-impairment-and-characteristic-facies-2/diagnosis
https://rarediseases.info.nih.gov/diseases/18461/parkinson-disease-19a-juvenile-onset
https://rarediseases.info.nih.gov/diseases/18461/parkinson-disease-19a-juvenile-onset/diagnosis
https://rarediseases.info.nih.gov/diseases/18478/parkinson-disease-17
https://rarediseases.info.nih.gov/diseases/18478/parkinson-disease-17/diagnosis
https://rarediseases.info.nih.gov/diseases/1850/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome
https://rarediseases.info.nih.gov/diseases/1850/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18501/intellectual-developmental-disorder-autosomal-dominant-42
https://rarediseases.info.nih.gov/diseases/18501/intellectual-developmental-disorder-autosomal-dominant-42/diagnosis
https://rarediseases.info.nih.gov/diseases/1851/split-cord-malformation-type-i
https://rarediseases.info.nih.gov/diseases/1851/split-cord-malformation-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/18527/intellectual-developmental-disorder-with-seizures-and-language-delay
https://rarediseases.info.nih.gov/diseases/18527/intellectual-developmental-disorder-with-seizures-and-language-delay/diagnosis
https://rarediseases.info.nih.gov/diseases/18534/neurodevelopmental-disorder-with-microcephaly-impaired-language-and-gait-abnormalities
https://rarediseases.info.nih.gov/diseases/18534/neurodevelopmental-disorder-with-microcephaly-impaired-language-and-gait-abnormalities/diagnosis
https://rarediseases.info.nih.gov/diseases/18535/neurodevelopmental-disorder-with-microcephaly-impaired-language-epilepsy-and-gait-abnormalities
https://rarediseases.info.nih.gov/diseases/18535/neurodevelopmental-disorder-with-microcephaly-impaired-language-epilepsy-and-gait-abnormalities/diagnosis
https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1
https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1/diagnosis
https://rarediseases.info.nih.gov/diseases/18543/neurodevelopmental-disorder-with-dysmorphic-facies-and-variable-seizures
https://rarediseases.info.nih.gov/diseases/18543/neurodevelopmental-disorder-with-dysmorphic-facies-and-variable-seizures/diagnosis
https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria
https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/18582/melanoma-cutaneous-malignant-susceptibility-to-10
https://rarediseases.info.nih.gov/diseases/18582/melanoma-cutaneous-malignant-susceptibility-to-10/diagnosis
https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome
https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18605/parkinson-disease-6-autosomal-recessive-early-onset
https://rarediseases.info.nih.gov/diseases/18605/parkinson-disease-6-autosomal-recessive-early-onset/diagnosis
https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis
https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/18616/dystonia-11-myoclonic
https://rarediseases.info.nih.gov/diseases/18616/dystonia-11-myoclonic/diagnosis
https://rarediseases.info.nih.gov/diseases/1862/non-epidermolytic-palmoplantar-keratoderma
https://rarediseases.info.nih.gov/diseases/1862/non-epidermolytic-palmoplantar-keratoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/18641/generalized-epilepsy-with-febrile-seizures-plus
https://rarediseases.info.nih.gov/diseases/18641/generalized-epilepsy-with-febrile-seizures-plus/diagnosis
https://rarediseases.info.nih.gov/diseases/18642/hereditary-persistence-of-fetal-hemoglobin-beta-thalassemia-syndrome
https://rarediseases.info.nih.gov/diseases/18642/hereditary-persistence-of-fetal-hemoglobin-beta-thalassemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18648/hereditary-persistence-of-fetal-hemoglobin-sickle-cell-disease-syndrome
https://rarediseases.info.nih.gov/diseases/18648/hereditary-persistence-of-fetal-hemoglobin-sickle-cell-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18649/isolated-atp-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/18649/isolated-atp-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/18651/familial-benign-flecked-retina
https://rarediseases.info.nih.gov/diseases/18651/familial-benign-flecked-retina/diagnosis
https://rarediseases.info.nih.gov/diseases/18652/isolated-sedoheptulokinase-deficiency
https://rarediseases.info.nih.gov/diseases/18652/isolated-sedoheptulokinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/18653/dnajb2-related-charcot-marie-tooth-disease-type-2
https://rarediseases.info.nih.gov/diseases/18653/dnajb2-related-charcot-marie-tooth-disease-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/18675/amoebiasis-due-to-entamoeba-histolytica
https://rarediseases.info.nih.gov/diseases/18675/amoebiasis-due-to-entamoeba-histolytica/diagnosis
https://rarediseases.info.nih.gov/diseases/18678/atresia-of-urethra
https://rarediseases.info.nih.gov/diseases/18678/atresia-of-urethra/diagnosis
https://rarediseases.info.nih.gov/diseases/18684/digestive-duplication
https://rarediseases.info.nih.gov/diseases/18684/digestive-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/18687/congenital-herpes-simplex-virus-infection
https://rarediseases.info.nih.gov/diseases/18687/congenital-herpes-simplex-virus-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/18689/hemorrhagic-fever-renal-syndrome
https://rarediseases.info.nih.gov/diseases/18689/hemorrhagic-fever-renal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18692/histoplasmosis
https://rarediseases.info.nih.gov/diseases/18692/histoplasmosis/diagnosis
https://rarediseases.info.nih.gov/diseases/18693/familial-keratoacanthoma
https://rarediseases.info.nih.gov/diseases/18693/familial-keratoacanthoma/diagnosis
https://rarediseases.info.nih.gov/diseases/18700/congenital-primary-megaureter
https://rarediseases.info.nih.gov/diseases/18700/congenital-primary-megaureter/diagnosis
https://rarediseases.info.nih.gov/diseases/18702/plague
https://rarediseases.info.nih.gov/diseases/18702/plague/diagnosis
https://rarediseases.info.nih.gov/diseases/18703/pili-bifurcati
https://rarediseases.info.nih.gov/diseases/18703/pili-bifurcati/diagnosis
https://rarediseases.info.nih.gov/diseases/18708/congenital-toxoplasmosis
https://rarediseases.info.nih.gov/diseases/18708/congenital-toxoplasmosis/diagnosis
https://rarediseases.info.nih.gov/diseases/18713/alopecia-antibody-deficiency
https://rarediseases.info.nih.gov/diseases/18713/alopecia-antibody-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/18715/isolated-lissencephaly-type-1-without-known-genetic-defects
https://rarediseases.info.nih.gov/diseases/18715/isolated-lissencephaly-type-1-without-known-genetic-defects/diagnosis
https://rarediseases.info.nih.gov/diseases/18716/radial-deficiency-tibial-hypoplasia-syndrome
https://rarediseases.info.nih.gov/diseases/18716/radial-deficiency-tibial-hypoplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18719/mitochondrial-dna-related-cardiomyopathy-and-hearing-loss
https://rarediseases.info.nih.gov/diseases/18719/mitochondrial-dna-related-cardiomyopathy-and-hearing-loss/diagnosis
https://rarediseases.info.nih.gov/diseases/1872/diphallia
https://rarediseases.info.nih.gov/diseases/1872/diphallia/diagnosis
https://rarediseases.info.nih.gov/diseases/18727/thin-ribs-tubular-bones-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/18727/thin-ribs-tubular-bones-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18729/non-distal-monosomy-10q
https://rarediseases.info.nih.gov/diseases/18729/non-distal-monosomy-10q/diagnosis
https://rarediseases.info.nih.gov/diseases/18730/deletion-5q35
https://rarediseases.info.nih.gov/diseases/18730/deletion-5q35/diagnosis
https://rarediseases.info.nih.gov/diseases/18731/distal-monosomy-7q36
https://rarediseases.info.nih.gov/diseases/18731/distal-monosomy-7q36/diagnosis
https://rarediseases.info.nih.gov/diseases/18732/distal-monosomy-9p
https://rarediseases.info.nih.gov/diseases/18732/distal-monosomy-9p/diagnosis
https://rarediseases.info.nih.gov/diseases/18733/xp223-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/18733/xp223-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18735/familial-idiopathic-dilatation-of-the-right-atrium
https://rarediseases.info.nih.gov/diseases/18735/familial-idiopathic-dilatation-of-the-right-atrium/diagnosis
https://rarediseases.info.nih.gov/diseases/18736/mosaic-trisomy-1
https://rarediseases.info.nih.gov/diseases/18736/mosaic-trisomy-1/diagnosis
https://rarediseases.info.nih.gov/diseases/18737/non-distal-trisomy-10q
https://rarediseases.info.nih.gov/diseases/18737/non-distal-trisomy-10q/diagnosis
https://rarediseases.info.nih.gov/diseases/18738/non-distal-trisomy-13q
https://rarediseases.info.nih.gov/diseases/18738/non-distal-trisomy-13q/diagnosis
https://rarediseases.info.nih.gov/diseases/18739/distal-trisomy-14q
https://rarediseases.info.nih.gov/diseases/18739/distal-trisomy-14q/diagnosis
https://rarediseases.info.nih.gov/diseases/1874/hemolytic-anemia-due-to-diphosphoglycerate-mutase-deficiency
https://rarediseases.info.nih.gov/diseases/1874/hemolytic-anemia-due-to-diphosphoglycerate-mutase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/18741/mosaic-trisomy-16
https://rarediseases.info.nih.gov/diseases/18741/mosaic-trisomy-16/diagnosis
https://rarediseases.info.nih.gov/diseases/18742/distal-trisomy-18q
https://rarediseases.info.nih.gov/diseases/18742/distal-trisomy-18q/diagnosis
https://rarediseases.info.nih.gov/diseases/18743/distal-trisomy-19q
https://rarediseases.info.nih.gov/diseases/18743/distal-trisomy-19q/diagnosis
https://rarediseases.info.nih.gov/diseases/18744/mosaic-trisomy-20
https://rarediseases.info.nih.gov/diseases/18744/mosaic-trisomy-20/diagnosis
https://rarediseases.info.nih.gov/diseases/18745/distal-trisomy-6p
https://rarediseases.info.nih.gov/diseases/18745/distal-trisomy-6p/diagnosis
https://rarediseases.info.nih.gov/diseases/18746/fibular-dimelia-diplopodia-syndrome
https://rarediseases.info.nih.gov/diseases/18746/fibular-dimelia-diplopodia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18747/45x46xy-mixed-gonadal-dysgenesis
https://rarediseases.info.nih.gov/diseases/18747/45x46xy-mixed-gonadal-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/18748/multicystic-dysplastic-kidney
https://rarediseases.info.nih.gov/diseases/18748/multicystic-dysplastic-kidney/diagnosis
https://rarediseases.info.nih.gov/diseases/1875/diphtheria
https://rarediseases.info.nih.gov/diseases/1875/diphtheria/diagnosis
https://rarediseases.info.nih.gov/diseases/18750/fetal-trimethadione-syndrome
https://rarediseases.info.nih.gov/diseases/18750/fetal-trimethadione-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18751/toluene-embryopathy
https://rarediseases.info.nih.gov/diseases/18751/toluene-embryopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/18755/cleft-lippalate-deafness-sacral-lipoma-syndrome
https://rarediseases.info.nih.gov/diseases/18755/cleft-lippalate-deafness-sacral-lipoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18756/median-cleft-lipmandibule
https://rarediseases.info.nih.gov/diseases/18756/median-cleft-lipmandibule/diagnosis
https://rarediseases.info.nih.gov/diseases/18759/progressive-non-infectious-anterior-vertebral-fusion
https://rarediseases.info.nih.gov/diseases/18759/progressive-non-infectious-anterior-vertebral-fusion/diagnosis
https://rarediseases.info.nih.gov/diseases/1876/diprosopus
https://rarediseases.info.nih.gov/diseases/1876/diprosopus/diagnosis
https://rarediseases.info.nih.gov/diseases/18760/dysmorphism-pectus-carinatum-joint-laxity-syndrome
https://rarediseases.info.nih.gov/diseases/18760/dysmorphism-pectus-carinatum-joint-laxity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18762/craniosynostosis-herrmann-opitz-type
https://rarediseases.info.nih.gov/diseases/18762/craniosynostosis-herrmann-opitz-type/diagnosis
https://rarediseases.info.nih.gov/diseases/18763/hypotrichosis-intellectual-disability-lopes-type
https://rarediseases.info.nih.gov/diseases/18763/hypotrichosis-intellectual-disability-lopes-type/diagnosis
https://rarediseases.info.nih.gov/diseases/18764/dysmorphism-short-stature-deafness-disorder-of-sex-development-syndrome
https://rarediseases.info.nih.gov/diseases/18764/dysmorphism-short-stature-deafness-disorder-of-sex-development-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18765/isotretinoin-syndrome
https://rarediseases.info.nih.gov/diseases/18765/isotretinoin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18766/epidermolysis-bullosa-simplex-with-anodontiahypodontia
https://rarediseases.info.nih.gov/diseases/18766/epidermolysis-bullosa-simplex-with-anodontiahypodontia/diagnosis
https://rarediseases.info.nih.gov/diseases/18767/kallmann-syndrome-heart-disease-syndrome
https://rarediseases.info.nih.gov/diseases/18767/kallmann-syndrome-heart-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18773/lower-limb-malformation-hypospadias-syndrome
https://rarediseases.info.nih.gov/diseases/18773/lower-limb-malformation-hypospadias-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18774/microcephaly-seizures-intellectual-disability-heart-disease-syndrome
https://rarediseases.info.nih.gov/diseases/18774/microcephaly-seizures-intellectual-disability-heart-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18776/osteochondrodysplatic-nanism-deafness-retinitis-pigmentosa-syndrome
https://rarediseases.info.nih.gov/diseases/18776/osteochondrodysplatic-nanism-deafness-retinitis-pigmentosa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18777/adult-familial-nephronophthisis-spastic-quadriparesia-syndrome
https://rarediseases.info.nih.gov/diseases/18777/adult-familial-nephronophthisis-spastic-quadriparesia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18778/osteoporosis-macrocephaly-blindness-joint-hyperlaxity-syndrome
https://rarediseases.info.nih.gov/diseases/18778/osteoporosis-macrocephaly-blindness-joint-hyperlaxity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1878/chromosome-1-uniparental-disomy-1q12-q21
https://rarediseases.info.nih.gov/diseases/1878/chromosome-1-uniparental-disomy-1q12-q21/diagnosis
https://rarediseases.info.nih.gov/diseases/18780/pericardial-and-diaphragmatic-defect
https://rarediseases.info.nih.gov/diseases/18780/pericardial-and-diaphragmatic-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/18781/hereditary-acrokeratotic-poikiloderma
https://rarediseases.info.nih.gov/diseases/18781/hereditary-acrokeratotic-poikiloderma/diagnosis
https://rarediseases.info.nih.gov/diseases/18782/46xx-disorder-of-sex-development-anorectal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/18782/46xx-disorder-of-sex-development-anorectal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18784/mirror-polydactyly-vertebral-segmentation-limbs-defects-syndrome
https://rarediseases.info.nih.gov/diseases/18784/mirror-polydactyly-vertebral-segmentation-limbs-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18787/multiple-sclerosis-ichthyosis-factor-viii-deficiency-syndrome
https://rarediseases.info.nih.gov/diseases/18787/multiple-sclerosis-ichthyosis-factor-viii-deficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18788/hearing-loss-familial-salivary-gland-insensitivity-to-aldosterone-syndrome
https://rarediseases.info.nih.gov/diseases/18788/hearing-loss-familial-salivary-gland-insensitivity-to-aldosterone-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18789/central-nervous-system-calcification-deafness-tubular-acidosis-anemia-syndrome
https://rarediseases.info.nih.gov/diseases/18789/central-nervous-system-calcification-deafness-tubular-acidosis-anemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18791/telecanthus-hypertelorism-strabismus-pes-cavus-syndrome
https://rarediseases.info.nih.gov/diseases/18791/telecanthus-hypertelorism-strabismus-pes-cavus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18792/tetrasomy-5p
https://rarediseases.info.nih.gov/diseases/18792/tetrasomy-5p/diagnosis
https://rarediseases.info.nih.gov/diseases/18793/toxocariasis
https://rarediseases.info.nih.gov/diseases/18793/toxocariasis/diagnosis
https://rarediseases.info.nih.gov/diseases/18794/distal-trisomy-17q
https://rarediseases.info.nih.gov/diseases/18794/distal-trisomy-17q/diagnosis
https://rarediseases.info.nih.gov/diseases/18795/american-trypanosomiasis
https://rarediseases.info.nih.gov/diseases/18795/american-trypanosomiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/18811/severe-disseminated-cytomegalovirus-infection-in-immunocompetent-patients
https://rarediseases.info.nih.gov/diseases/18811/severe-disseminated-cytomegalovirus-infection-in-immunocompetent-patients/diagnosis
https://rarediseases.info.nih.gov/diseases/18813/epidermal-nevus-syndrome
https://rarediseases.info.nih.gov/diseases/18813/epidermal-nevus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18819/staphylococcal-scarlet-fever
https://rarediseases.info.nih.gov/diseases/18819/staphylococcal-scarlet-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/18820/bullous-impetigo
https://rarediseases.info.nih.gov/diseases/18820/bullous-impetigo/diagnosis
https://rarediseases.info.nih.gov/diseases/18821/staphylococcal-necrotizing-pneumonia
https://rarediseases.info.nih.gov/diseases/18821/staphylococcal-necrotizing-pneumonia/diagnosis
https://rarediseases.info.nih.gov/diseases/18823/familial-cervical-artery-dissection
https://rarediseases.info.nih.gov/diseases/18823/familial-cervical-artery-dissection/diagnosis
https://rarediseases.info.nih.gov/diseases/18827/acitretinetretinate-embryopathy
https://rarediseases.info.nih.gov/diseases/18827/acitretinetretinate-embryopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp
https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp/diagnosis
https://rarediseases.info.nih.gov/diseases/18840/microlissencephaly-micromelia-syndrome
https://rarediseases.info.nih.gov/diseases/18840/microlissencephaly-micromelia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18841/zellweger-like-syndrome-without-peroxisomal-anomalies
https://rarediseases.info.nih.gov/diseases/18841/zellweger-like-syndrome-without-peroxisomal-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/18842/duane-anomaly-myopathy-scoliosis-syndrome
https://rarediseases.info.nih.gov/diseases/18842/duane-anomaly-myopathy-scoliosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18846/posterior-cortical-atrophy
https://rarediseases.info.nih.gov/diseases/18846/posterior-cortical-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/18848/sarcocystosis
https://rarediseases.info.nih.gov/diseases/18848/sarcocystosis/diagnosis
https://rarediseases.info.nih.gov/diseases/18849/pneumococcal-meningitis
https://rarediseases.info.nih.gov/diseases/18849/pneumococcal-meningitis/diagnosis
https://rarediseases.info.nih.gov/diseases/18853/mazabraud-syndrome
https://rarediseases.info.nih.gov/diseases/18853/mazabraud-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18859/acrofacial-dysostosis-kennedy-teebi-type
https://rarediseases.info.nih.gov/diseases/18859/acrofacial-dysostosis-kennedy-teebi-type/diagnosis
https://rarediseases.info.nih.gov/diseases/1886/late-onset-distal-myopathy-markesbery-griggs-type
https://rarediseases.info.nih.gov/diseases/1886/late-onset-distal-myopathy-markesbery-griggs-type/diagnosis
https://rarediseases.info.nih.gov/diseases/18862/trench-fever
https://rarediseases.info.nih.gov/diseases/18862/trench-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/18868/short-fifth-metacarpals-insulin-resistance-syndrome
https://rarediseases.info.nih.gov/diseases/18868/short-fifth-metacarpals-insulin-resistance-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18869/sensorineural-hearing-loss-early-graying-essential-tremor-syndrome
https://rarediseases.info.nih.gov/diseases/18869/sensorineural-hearing-loss-early-graying-essential-tremor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1887/vocal-cord-and-pharyngeal-distal-myopathy
https://rarediseases.info.nih.gov/diseases/1887/vocal-cord-and-pharyngeal-distal-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/18896/congenital-membranous-nephropathy-due-to-fetomaternal-anti-neutral-endopeptidase-alloimmunization
https://rarediseases.info.nih.gov/diseases/18896/congenital-membranous-nephropathy-due-to-fetomaternal-anti-neutral-endopeptidase-alloimmunization/diagnosis
https://rarediseases.info.nih.gov/diseases/18897/bilateral-acute-depigmentation-of-the-iris
https://rarediseases.info.nih.gov/diseases/18897/bilateral-acute-depigmentation-of-the-iris/diagnosis
https://rarediseases.info.nih.gov/diseases/18903/congenital-epstein-barr-virus-infection
https://rarediseases.info.nih.gov/diseases/18903/congenital-epstein-barr-virus-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/18908/retinal-capillary-malformation
https://rarediseases.info.nih.gov/diseases/18908/retinal-capillary-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/18909/dentinogenesis-imperfecta-short-stature-hearing-loss-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/18909/dentinogenesis-imperfecta-short-stature-hearing-loss-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1891/distomatosis
https://rarediseases.info.nih.gov/diseases/1891/distomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/18913/benign-paroxysmal-torticollis-of-infancy
https://rarediseases.info.nih.gov/diseases/18913/benign-paroxysmal-torticollis-of-infancy/diagnosis
https://rarediseases.info.nih.gov/diseases/18919/global-developmental-delay-osteopenia-ectodermal-defect-syndrome
https://rarediseases.info.nih.gov/diseases/18919/global-developmental-delay-osteopenia-ectodermal-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18920/kidney-tubulopathy-dilated-cardiomyopathy-syndrome
https://rarediseases.info.nih.gov/diseases/18920/kidney-tubulopathy-dilated-cardiomyopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18921/ossification-anomalies-psychomotor-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/18921/ossification-anomalies-psychomotor-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18922/spinal-muscular-atrophy-dandy-walker-malformation-cataracts-syndrome
https://rarediseases.info.nih.gov/diseases/18922/spinal-muscular-atrophy-dandy-walker-malformation-cataracts-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18923/visceral-neuropathy-brain-anomalies-facial-dysmorphism-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/18923/visceral-neuropathy-brain-anomalies-facial-dysmorphism-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18925/oligocone-trichromacy
https://rarediseases.info.nih.gov/diseases/18925/oligocone-trichromacy/diagnosis
https://rarediseases.info.nih.gov/diseases/18926/brain-malformation-congenital-heart-disease-postaxial-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/18926/brain-malformation-congenital-heart-disease-postaxial-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18927/angioosteohypotrophic-syndrome
https://rarediseases.info.nih.gov/diseases/18927/angioosteohypotrophic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18931/6q-terminal-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/18931/6q-terminal-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18933/auricular-abnormalities-cleft-lip-with-or-without-cleft-palate-ocular-abnormalities-syndrome
https://rarediseases.info.nih.gov/diseases/18933/auricular-abnormalities-cleft-lip-with-or-without-cleft-palate-ocular-abnormalities-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18934/monosomy-9q223
https://rarediseases.info.nih.gov/diseases/18934/monosomy-9q223/diagnosis
https://rarediseases.info.nih.gov/diseases/18938/folinic-acid-responsive-seizures
https://rarediseases.info.nih.gov/diseases/18938/folinic-acid-responsive-seizures/diagnosis
https://rarediseases.info.nih.gov/diseases/1894/von-voss-cherstvoy-syndrome
https://rarediseases.info.nih.gov/diseases/1894/von-voss-cherstvoy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/18943/trichodysplasia-amelogenesis-imperfecta-syndrome
https://rarediseases.info.nih.gov/diseases/18943/trichodysplasia-amelogenesis-imperfecta-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1896/cleft-palate
https://rarediseases.info.nih.gov/diseases/1896/cleft-palate/diagnosis
https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract
https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome
https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/1902/autosomal-recessive-dopa-responsive-dystonia
https://rarediseases.info.nih.gov/diseases/1902/autosomal-recessive-dopa-responsive-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/19026/pili-gemini
https://rarediseases.info.nih.gov/diseases/19026/pili-gemini/diagnosis
https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency
https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/19030/rickettsialpox
https://rarediseases.info.nih.gov/diseases/19030/rickettsialpox/diagnosis
https://rarediseases.info.nih.gov/diseases/19032/epidemic-typhus
https://rarediseases.info.nih.gov/diseases/19032/epidemic-typhus/diagnosis
https://rarediseases.info.nih.gov/diseases/19033/murine-typhus
https://rarediseases.info.nih.gov/diseases/19033/murine-typhus/diagnosis
https://rarediseases.info.nih.gov/diseases/19034/pseudotyphus-of-california
https://rarediseases.info.nih.gov/diseases/19034/pseudotyphus-of-california/diagnosis
https://rarediseases.info.nih.gov/diseases/19035/scrub-typhus
https://rarediseases.info.nih.gov/diseases/19035/scrub-typhus/diagnosis
https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia
https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia/diagnosis
https://rarediseases.info.nih.gov/diseases/19040/mycoplasma-encephalitis
https://rarediseases.info.nih.gov/diseases/19040/mycoplasma-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/19041/st-louis-encephalitis
https://rarediseases.info.nih.gov/diseases/19041/st-louis-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/19042/colorado-tick-fever
https://rarediseases.info.nih.gov/diseases/19042/colorado-tick-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/19043/rubella-panencephalitis
https://rarediseases.info.nih.gov/diseases/19043/rubella-panencephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/19044/macrostomia-preauricular-tags-external-ophthalmoplegia-syndrome
https://rarediseases.info.nih.gov/diseases/19044/macrostomia-preauricular-tags-external-ophthalmoplegia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19045/lumbar-syndrome
https://rarediseases.info.nih.gov/diseases/19045/lumbar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19046/idiopathic-malabsorption-due-to-bile-acid-synthesis-defects
https://rarediseases.info.nih.gov/diseases/19046/idiopathic-malabsorption-due-to-bile-acid-synthesis-defects/diagnosis
https://rarediseases.info.nih.gov/diseases/19049/craniofacial-conodysplasia
https://rarediseases.info.nih.gov/diseases/19049/craniofacial-conodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/19050/astley-kendall-dysplasia
https://rarediseases.info.nih.gov/diseases/19050/astley-kendall-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/19051/dysspondyloenchondromatosis
https://rarediseases.info.nih.gov/diseases/19051/dysspondyloenchondromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/19052/ischiovertebral-syndrome
https://rarediseases.info.nih.gov/diseases/19052/ischiovertebral-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19053/x-linked-intellectual-disability-hypogammaglobulinemia-progressive-neurological-deterioration-syndrome
https://rarediseases.info.nih.gov/diseases/19053/x-linked-intellectual-disability-hypogammaglobulinemia-progressive-neurological-deterioration-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19054/x-linked-intellectual-disability-epilepsy-progressive-joint-contractures-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/19054/x-linked-intellectual-disability-epilepsy-progressive-joint-contractures-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19055/x-linked-intellectual-disability-macrocephaly-macroorchidism-syndrome
https://rarediseases.info.nih.gov/diseases/19055/x-linked-intellectual-disability-macrocephaly-macroorchidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19056/x-linked-intellectual-disability-pai-type
https://rarediseases.info.nih.gov/diseases/19056/x-linked-intellectual-disability-pai-type/diagnosis
https://rarediseases.info.nih.gov/diseases/19057/x-linked-intellectual-disability-seemanova-type
https://rarediseases.info.nih.gov/diseases/19057/x-linked-intellectual-disability-seemanova-type/diagnosis
https://rarediseases.info.nih.gov/diseases/19058/x-linked-intellectual-disability-stevenson-type
https://rarediseases.info.nih.gov/diseases/19058/x-linked-intellectual-disability-stevenson-type/diagnosis
https://rarediseases.info.nih.gov/diseases/19059/x-linked-intellectual-disability-stoll-type
https://rarediseases.info.nih.gov/diseases/19059/x-linked-intellectual-disability-stoll-type/diagnosis
https://rarediseases.info.nih.gov/diseases/19060/x-linked-intellectual-disability-acromegaly-hyperactivity-syndrome
https://rarediseases.info.nih.gov/diseases/19060/x-linked-intellectual-disability-acromegaly-hyperactivity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19061/x-linked-neurodegenerative-syndrome-bertini-type
https://rarediseases.info.nih.gov/diseases/19061/x-linked-neurodegenerative-syndrome-bertini-type/diagnosis
https://rarediseases.info.nih.gov/diseases/19062/x-linked-neurodegenerative-syndrome-hamel-type
https://rarediseases.info.nih.gov/diseases/19062/x-linked-neurodegenerative-syndrome-hamel-type/diagnosis
https://rarediseases.info.nih.gov/diseases/19063/x-linked-intellectual-disability-ataxia-apraxia-syndrome
https://rarediseases.info.nih.gov/diseases/19063/x-linked-intellectual-disability-ataxia-apraxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19067/lissencephaly-type-3-familial-fetal-akinesia-sequence-syndrome
https://rarediseases.info.nih.gov/diseases/19067/lissencephaly-type-3-familial-fetal-akinesia-sequence-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1907/double-outlet-left-ventricle
https://rarediseases.info.nih.gov/diseases/1907/double-outlet-left-ventricle/diagnosis
https://rarediseases.info.nih.gov/diseases/1908/double-outlet-right-ventricle
https://rarediseases.info.nih.gov/diseases/1908/double-outlet-right-ventricle/diagnosis
https://rarediseases.info.nih.gov/diseases/19084/hypothalamic-hamartomas-with-gelastic-seizures
https://rarediseases.info.nih.gov/diseases/19084/hypothalamic-hamartomas-with-gelastic-seizures/diagnosis
https://rarediseases.info.nih.gov/diseases/19087/epilepsy-with-myoclonic-absences
https://rarediseases.info.nih.gov/diseases/19087/epilepsy-with-myoclonic-absences/diagnosis
https://rarediseases.info.nih.gov/diseases/19088/myoclonic-epilepsy-in-non-progressive-encephalopathies
https://rarediseases.info.nih.gov/diseases/19088/myoclonic-epilepsy-in-non-progressive-encephalopathies/diagnosis
https://rarediseases.info.nih.gov/diseases/19089/diffuse-palmoplantar-keratoderma-acrocyanosis-syndrome
https://rarediseases.info.nih.gov/diseases/19089/diffuse-palmoplantar-keratoderma-acrocyanosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19092/obesity-colitis-hypothyroidism-cardiac-hypertrophy-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/19092/obesity-colitis-hypothyroidism-cardiac-hypertrophy-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19093/hypertension-due-to-gain-of-function-mutations-in-the-mineralocorticoid-receptor
https://rarediseases.info.nih.gov/diseases/19093/hypertension-due-to-gain-of-function-mutations-in-the-mineralocorticoid-receptor/diagnosis
https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis-syndrome
https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19103/hemoglobin-d-disease
https://rarediseases.info.nih.gov/diseases/19103/hemoglobin-d-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/1912/familial-drusen
https://rarediseases.info.nih.gov/diseases/1912/familial-drusen/diagnosis
https://rarediseases.info.nih.gov/diseases/19123/severe-early-onset-axonal-neuropathy-due-to-mfn2-deficiency
https://rarediseases.info.nih.gov/diseases/19123/severe-early-onset-axonal-neuropathy-due-to-mfn2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/19124/hereditary-motor-and-sensory-neuropathy-with-acrodystrophy
https://rarediseases.info.nih.gov/diseases/19124/hereditary-motor-and-sensory-neuropathy-with-acrodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome
https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19130/chilblain-lupus
https://rarediseases.info.nih.gov/diseases/19130/chilblain-lupus/diagnosis
https://rarediseases.info.nih.gov/diseases/19165/congenital-esophageal-diverticulum
https://rarediseases.info.nih.gov/diseases/19165/congenital-esophageal-diverticulum/diagnosis
https://rarediseases.info.nih.gov/diseases/19168/isolated-ankyloblepharon-filiforme-adnatum
https://rarediseases.info.nih.gov/diseases/19168/isolated-ankyloblepharon-filiforme-adnatum/diagnosis
https://rarediseases.info.nih.gov/diseases/19169/congenital-ectropion-uveae
https://rarediseases.info.nih.gov/diseases/19169/congenital-ectropion-uveae/diagnosis
https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis
https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis/diagnosis
https://rarediseases.info.nih.gov/diseases/19171/relapsing-fever
https://rarediseases.info.nih.gov/diseases/19171/relapsing-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/19172/renal-hypoplasia
https://rarediseases.info.nih.gov/diseases/19172/renal-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/19173/renal-dysplasia
https://rarediseases.info.nih.gov/diseases/19173/renal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/19182/ulnar-hemimelia
https://rarediseases.info.nih.gov/diseases/19182/ulnar-hemimelia/diagnosis
https://rarediseases.info.nih.gov/diseases/192/cataract-intellectual-disability-anal-atresia-urinary-defects-syndrome
https://rarediseases.info.nih.gov/diseases/192/cataract-intellectual-disability-anal-atresia-urinary-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19243/oromandibular-dystonia
https://rarediseases.info.nih.gov/diseases/19243/oromandibular-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/19244/humero-ulnar-synostosis
https://rarediseases.info.nih.gov/diseases/19244/humero-ulnar-synostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/19247/severe-intellectual-disability-epilepsy-anal-anomalies-distal-phalangeal-hypoplasia
https://rarediseases.info.nih.gov/diseases/19247/severe-intellectual-disability-epilepsy-anal-anomalies-distal-phalangeal-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/19251/recessive-mitochondrial-ataxia-syndrome
https://rarediseases.info.nih.gov/diseases/19251/recessive-mitochondrial-ataxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1926/chromosome-12q-duplication
https://rarediseases.info.nih.gov/diseases/1926/chromosome-12q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/19298/idiopathic-congenital-hypothyroidism
https://rarediseases.info.nih.gov/diseases/19298/idiopathic-congenital-hypothyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome
https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19300/mosaic-trisomy-4
https://rarediseases.info.nih.gov/diseases/19300/mosaic-trisomy-4/diagnosis
https://rarediseases.info.nih.gov/diseases/19301/mosaic-trisomy-5
https://rarediseases.info.nih.gov/diseases/19301/mosaic-trisomy-5/diagnosis
https://rarediseases.info.nih.gov/diseases/19302/mosaic-trisomy-10
https://rarediseases.info.nih.gov/diseases/19302/mosaic-trisomy-10/diagnosis
https://rarediseases.info.nih.gov/diseases/19303/distal-trisomy-1p36
https://rarediseases.info.nih.gov/diseases/19303/distal-trisomy-1p36/diagnosis
https://rarediseases.info.nih.gov/diseases/19304/distal-trisomy-2p
https://rarediseases.info.nih.gov/diseases/19304/distal-trisomy-2p/diagnosis
https://rarediseases.info.nih.gov/diseases/19305/distal-trisomy-3p
https://rarediseases.info.nih.gov/diseases/19305/distal-trisomy-3p/diagnosis
https://rarediseases.info.nih.gov/diseases/19306/4p163-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/19306/4p163-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19307/distal-trisomy-7p
https://rarediseases.info.nih.gov/diseases/19307/distal-trisomy-7p/diagnosis
https://rarediseases.info.nih.gov/diseases/19309/8p-inverted-duplicationdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/19309/8p-inverted-duplicationdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19310/distal-trisomy-2q
https://rarediseases.info.nih.gov/diseases/19310/distal-trisomy-2q/diagnosis
https://rarediseases.info.nih.gov/diseases/19311/3q26-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/19311/3q26-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19312/distal-trisomy-4q
https://rarediseases.info.nih.gov/diseases/19312/distal-trisomy-4q/diagnosis
https://rarediseases.info.nih.gov/diseases/19313/distal-trisomy-5q
https://rarediseases.info.nih.gov/diseases/19313/distal-trisomy-5q/diagnosis
https://rarediseases.info.nih.gov/diseases/19314/distal-trisomy-6q
https://rarediseases.info.nih.gov/diseases/19314/distal-trisomy-6q/diagnosis
https://rarediseases.info.nih.gov/diseases/19315/distal-trisomy-8q
https://rarediseases.info.nih.gov/diseases/19315/distal-trisomy-8q/diagnosis
https://rarediseases.info.nih.gov/diseases/19316/distal-trisomy-9q
https://rarediseases.info.nih.gov/diseases/19316/distal-trisomy-9q/diagnosis
https://rarediseases.info.nih.gov/diseases/19317/distal-trisomy-10q
https://rarediseases.info.nih.gov/diseases/19317/distal-trisomy-10q/diagnosis
https://rarediseases.info.nih.gov/diseases/19318/distal-trisomy-11q
https://rarediseases.info.nih.gov/diseases/19318/distal-trisomy-11q/diagnosis
https://rarediseases.info.nih.gov/diseases/19319/distal-trisomy-13q
https://rarediseases.info.nih.gov/diseases/19319/distal-trisomy-13q/diagnosis
https://rarediseases.info.nih.gov/diseases/19320/distal-trisomy-16q
https://rarediseases.info.nih.gov/diseases/19320/distal-trisomy-16q/diagnosis
https://rarediseases.info.nih.gov/diseases/19321/distal-trisomy-20q
https://rarediseases.info.nih.gov/diseases/19321/distal-trisomy-20q/diagnosis
https://rarediseases.info.nih.gov/diseases/19322/distal-trisomy-22q
https://rarediseases.info.nih.gov/diseases/19322/distal-trisomy-22q/diagnosis
https://rarediseases.info.nih.gov/diseases/19323/non-distal-trisomy-9q
https://rarediseases.info.nih.gov/diseases/19323/non-distal-trisomy-9q/diagnosis
https://rarediseases.info.nih.gov/diseases/19324/monosomy-22
https://rarediseases.info.nih.gov/diseases/19324/monosomy-22/diagnosis
https://rarediseases.info.nih.gov/diseases/19325/distal-monosomy-7p
https://rarediseases.info.nih.gov/diseases/19325/distal-monosomy-7p/diagnosis
https://rarediseases.info.nih.gov/diseases/19326/distal-monosomy-19p133
https://rarediseases.info.nih.gov/diseases/19326/distal-monosomy-19p133/diagnosis
https://rarediseases.info.nih.gov/diseases/19327/distal-monosomy-4q
https://rarediseases.info.nih.gov/diseases/19327/distal-monosomy-4q/diagnosis
https://rarediseases.info.nih.gov/diseases/19329/distal-monosomy-14q
https://rarediseases.info.nih.gov/diseases/19329/distal-monosomy-14q/diagnosis
https://rarediseases.info.nih.gov/diseases/19330/non-distal-monosomy-12q
https://rarediseases.info.nih.gov/diseases/19330/non-distal-monosomy-12q/diagnosis
https://rarediseases.info.nih.gov/diseases/19331/maternal-uniparental-disomy-of-chromosome-2
https://rarediseases.info.nih.gov/diseases/19331/maternal-uniparental-disomy-of-chromosome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/19332/maternal-uniparental-disomy-of-chromosome-4
https://rarediseases.info.nih.gov/diseases/19332/maternal-uniparental-disomy-of-chromosome-4/diagnosis
https://rarediseases.info.nih.gov/diseases/19333/maternal-uniparental-disomy-of-chromosome-6
https://rarediseases.info.nih.gov/diseases/19333/maternal-uniparental-disomy-of-chromosome-6/diagnosis
https://rarediseases.info.nih.gov/diseases/19335/maternal-uniparental-disomy-of-chromosome-9
https://rarediseases.info.nih.gov/diseases/19335/maternal-uniparental-disomy-of-chromosome-9/diagnosis
https://rarediseases.info.nih.gov/diseases/19336/maternal-uniparental-disomy-of-chromosome-16
https://rarediseases.info.nih.gov/diseases/19336/maternal-uniparental-disomy-of-chromosome-16/diagnosis
https://rarediseases.info.nih.gov/diseases/19337/maternal-uniparental-disomy-of-chromosome-21
https://rarediseases.info.nih.gov/diseases/19337/maternal-uniparental-disomy-of-chromosome-21/diagnosis
https://rarediseases.info.nih.gov/diseases/19338/maternal-uniparental-disomy-of-chromosome-22
https://rarediseases.info.nih.gov/diseases/19338/maternal-uniparental-disomy-of-chromosome-22/diagnosis
https://rarediseases.info.nih.gov/diseases/19339/paternal-uniparental-disomy-of-chromosome-5
https://rarediseases.info.nih.gov/diseases/19339/paternal-uniparental-disomy-of-chromosome-5/diagnosis
https://rarediseases.info.nih.gov/diseases/19340/paternal-uniparental-disomy-of-chromosome-6
https://rarediseases.info.nih.gov/diseases/19340/paternal-uniparental-disomy-of-chromosome-6/diagnosis
https://rarediseases.info.nih.gov/diseases/19341/paternal-uniparental-disomy-of-chromosome-7
https://rarediseases.info.nih.gov/diseases/19341/paternal-uniparental-disomy-of-chromosome-7/diagnosis
https://rarediseases.info.nih.gov/diseases/19343/paternal-uniparental-disomy-of-chromosome-20
https://rarediseases.info.nih.gov/diseases/19343/paternal-uniparental-disomy-of-chromosome-20/diagnosis
https://rarediseases.info.nih.gov/diseases/19344/paternal-uniparental-disomy-of-chromosome-21
https://rarediseases.info.nih.gov/diseases/19344/paternal-uniparental-disomy-of-chromosome-21/diagnosis
https://rarediseases.info.nih.gov/diseases/19345/x-small-rings
https://rarediseases.info.nih.gov/diseases/19345/x-small-rings/diagnosis
https://rarediseases.info.nih.gov/diseases/19354/zebra-body-myopathy
https://rarediseases.info.nih.gov/diseases/19354/zebra-body-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/19369/persistent-placoid-maculopathy
https://rarediseases.info.nih.gov/diseases/19369/persistent-placoid-maculopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/19382/maternal-uniparental-disomy-of-chromosome-13
https://rarediseases.info.nih.gov/diseases/19382/maternal-uniparental-disomy-of-chromosome-13/diagnosis
https://rarediseases.info.nih.gov/diseases/194/gamma-aminobutyric-acid-transaminase-deficiency
https://rarediseases.info.nih.gov/diseases/194/gamma-aminobutyric-acid-transaminase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/195/hyperkalemic-periodic-paralysis
https://rarediseases.info.nih.gov/diseases/195/hyperkalemic-periodic-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/19579/isochromosomy-yp
https://rarediseases.info.nih.gov/diseases/19579/isochromosomy-yp/diagnosis
https://rarediseases.info.nih.gov/diseases/19580/isochromosomy-yq
https://rarediseases.info.nih.gov/diseases/19580/isochromosomy-yq/diagnosis
https://rarediseases.info.nih.gov/diseases/19605/coloboma-of-eyelid
https://rarediseases.info.nih.gov/diseases/19605/coloboma-of-eyelid/diagnosis
https://rarediseases.info.nih.gov/diseases/19610/congenital-hereditary-endothelial-dystrophy-type-i
https://rarediseases.info.nih.gov/diseases/19610/congenital-hereditary-endothelial-dystrophy-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/19612/multifocal-pattern-dystrophy-simulating-fundus-flavimaculatus
https://rarediseases.info.nih.gov/diseases/19612/multifocal-pattern-dystrophy-simulating-fundus-flavimaculatus/diagnosis
https://rarediseases.info.nih.gov/diseases/19613/fundus-pulverulentus
https://rarediseases.info.nih.gov/diseases/19613/fundus-pulverulentus/diagnosis
https://rarediseases.info.nih.gov/diseases/19669/hemolytic-anemia-due-to-erythrocyte-adenosine-deaminase-overproduction
https://rarediseases.info.nih.gov/diseases/19669/hemolytic-anemia-due-to-erythrocyte-adenosine-deaminase-overproduction/diagnosis
https://rarediseases.info.nih.gov/diseases/19671/epiblepharon
https://rarediseases.info.nih.gov/diseases/19671/epiblepharon/diagnosis
https://rarediseases.info.nih.gov/diseases/19672/tarsal-kink-syndrome
https://rarediseases.info.nih.gov/diseases/19672/tarsal-kink-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19673/isolated-congenital-ectropion
https://rarediseases.info.nih.gov/diseases/19673/isolated-congenital-ectropion/diagnosis
https://rarediseases.info.nih.gov/diseases/19674/euryblepharon
https://rarediseases.info.nih.gov/diseases/19674/euryblepharon/diagnosis
https://rarediseases.info.nih.gov/diseases/19675/congenital-eyelid-retraction
https://rarediseases.info.nih.gov/diseases/19675/congenital-eyelid-retraction/diagnosis
https://rarediseases.info.nih.gov/diseases/19678/paternal-uniparental-disomy-of-chromosome-13
https://rarediseases.info.nih.gov/diseases/19678/paternal-uniparental-disomy-of-chromosome-13/diagnosis
https://rarediseases.info.nih.gov/diseases/19679/49xyyyy-syndrome
https://rarediseases.info.nih.gov/diseases/19679/49xyyyy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19682/cheirospondyloenchondromatosis
https://rarediseases.info.nih.gov/diseases/19682/cheirospondyloenchondromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/19683/dermotrichic-syndrome
https://rarediseases.info.nih.gov/diseases/19683/dermotrichic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19684/mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
https://rarediseases.info.nih.gov/diseases/19684/mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/19687/bifid-uvula
https://rarediseases.info.nih.gov/diseases/19687/bifid-uvula/diagnosis
https://rarediseases.info.nih.gov/diseases/19688/lassa-fever
https://rarediseases.info.nih.gov/diseases/19688/lassa-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/19689/nipah-virus-disease
https://rarediseases.info.nih.gov/diseases/19689/nipah-virus-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/19690/crimean-congo-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/19690/crimean-congo-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/19691/primary-syringomyelia
https://rarediseases.info.nih.gov/diseases/19691/primary-syringomyelia/diagnosis
https://rarediseases.info.nih.gov/diseases/19698/cushing-syndrome-due-to-ectopic-acth-secretion
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https://rarediseases.info.nih.gov/diseases/19724/intermediate-dend-syndrome
https://rarediseases.info.nih.gov/diseases/19724/intermediate-dend-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19731/lissencephaly-with-cerebellar-hypoplasia-type-a
https://rarediseases.info.nih.gov/diseases/19731/lissencephaly-with-cerebellar-hypoplasia-type-a/diagnosis
https://rarediseases.info.nih.gov/diseases/19732/lissencephaly-with-cerebellar-hypoplasia-type-b
https://rarediseases.info.nih.gov/diseases/19732/lissencephaly-with-cerebellar-hypoplasia-type-b/diagnosis
https://rarediseases.info.nih.gov/diseases/19733/lissencephaly-with-cerebellar-hypoplasia-type-c
https://rarediseases.info.nih.gov/diseases/19733/lissencephaly-with-cerebellar-hypoplasia-type-c/diagnosis
https://rarediseases.info.nih.gov/diseases/19734/lissencephaly-with-cerebellar-hypoplasia-type-d
https://rarediseases.info.nih.gov/diseases/19734/lissencephaly-with-cerebellar-hypoplasia-type-d/diagnosis
https://rarediseases.info.nih.gov/diseases/19735/lissencephaly-with-cerebellar-hypoplasia-type-e
https://rarediseases.info.nih.gov/diseases/19735/lissencephaly-with-cerebellar-hypoplasia-type-e/diagnosis
https://rarediseases.info.nih.gov/diseases/19736/lissencephaly-with-cerebellar-hypoplasia-type-f
https://rarediseases.info.nih.gov/diseases/19736/lissencephaly-with-cerebellar-hypoplasia-type-f/diagnosis
https://rarediseases.info.nih.gov/diseases/19744/esophageal-duplication-cyst
https://rarediseases.info.nih.gov/diseases/19744/esophageal-duplication-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/19745/tubular-duplication-of-the-esophagus
https://rarediseases.info.nih.gov/diseases/19745/tubular-duplication-of-the-esophagus/diagnosis
https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra
https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra/diagnosis
https://rarediseases.info.nih.gov/diseases/19769/fraxf-syndrome
https://rarediseases.info.nih.gov/diseases/19769/fraxf-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/198/proximal-spinal-muscular-atrophy-type-3
https://rarediseases.info.nih.gov/diseases/198/proximal-spinal-muscular-atrophy-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/19838/chronic-diarrhea-due-to-glucoamylase-deficiency
https://rarediseases.info.nih.gov/diseases/19838/chronic-diarrhea-due-to-glucoamylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/19839/congenital-enterocyte-heparan-sulfate-deficiency
https://rarediseases.info.nih.gov/diseases/19839/congenital-enterocyte-heparan-sulfate-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/19881/segmental-outgrowth-lipomatosis-arteriovenous-malformation-epidermal-nevus-syndrome
https://rarediseases.info.nih.gov/diseases/19881/segmental-outgrowth-lipomatosis-arteriovenous-malformation-epidermal-nevus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19882/intractable-diarrhea-choanal-atresia-eye-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/19882/intractable-diarrhea-choanal-atresia-eye-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19883/cardiac-anomalies-heterotaxy-syndrome
https://rarediseases.info.nih.gov/diseases/19883/cardiac-anomalies-heterotaxy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19887/madras-motor-neuron-disease
https://rarediseases.info.nih.gov/diseases/19887/madras-motor-neuron-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/19917/leukoencephalopathy-with-bilateral-anterior-temporal-lobe-cysts
https://rarediseases.info.nih.gov/diseases/19917/leukoencephalopathy-with-bilateral-anterior-temporal-lobe-cysts/diagnosis
https://rarediseases.info.nih.gov/diseases/19918/progressive-cavitating-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/19918/progressive-cavitating-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/19919/neuropathy-with-hearing-impairment
https://rarediseases.info.nih.gov/diseases/19919/neuropathy-with-hearing-impairment/diagnosis
https://rarediseases.info.nih.gov/diseases/19920/hereditary-sensory-and-autonomic-neuropathy-with-deafness-and-global-delay
https://rarediseases.info.nih.gov/diseases/19920/hereditary-sensory-and-autonomic-neuropathy-with-deafness-and-global-delay/diagnosis
https://rarediseases.info.nih.gov/diseases/1993/ichthyosis-hepatosplenomegaly-cerebellar-degeneration-syndrome
https://rarediseases.info.nih.gov/diseases/1993/ichthyosis-hepatosplenomegaly-cerebellar-degeneration-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19932/linear-atrophoderma-of-moulin
https://rarediseases.info.nih.gov/diseases/19932/linear-atrophoderma-of-moulin/diagnosis
https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis-syndrome
https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/19954/glossopalatine-ankylosis
https://rarediseases.info.nih.gov/diseases/19954/glossopalatine-ankylosis/diagnosis
https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria
https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria/diagnosis
https://rarediseases.info.nih.gov/diseases/19962/isolated-congenital-syngnathia
https://rarediseases.info.nih.gov/diseases/19962/isolated-congenital-syngnathia/diagnosis
https://rarediseases.info.nih.gov/diseases/19966/median-cleft-of-the-upper-lip-and-maxilla
https://rarediseases.info.nih.gov/diseases/19966/median-cleft-of-the-upper-lip-and-maxilla/diagnosis
https://rarediseases.info.nih.gov/diseases/19968/tessier-number-5-facial-cleft
https://rarediseases.info.nih.gov/diseases/19968/tessier-number-5-facial-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/19969/tessier-number-6-facial-cleft
https://rarediseases.info.nih.gov/diseases/19969/tessier-number-6-facial-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/19971/midline-cervical-cleft
https://rarediseases.info.nih.gov/diseases/19971/midline-cervical-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/19977/coloboma-of-superior-eyelid
https://rarediseases.info.nih.gov/diseases/19977/coloboma-of-superior-eyelid/diagnosis
https://rarediseases.info.nih.gov/diseases/19978/coloboma-of-inferior-eyelid
https://rarediseases.info.nih.gov/diseases/19978/coloboma-of-inferior-eyelid/diagnosis
https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome
https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/1999/congenital-dyserythropoietic-anemia
https://rarediseases.info.nih.gov/diseases/1999/congenital-dyserythropoietic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy
https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/2000/congenital-dyserythropoietic-anemia-type-i
https://rarediseases.info.nih.gov/diseases/2000/congenital-dyserythropoietic-anemia-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/2001/congenital-dyserythropoietic-anemia-type-ii
https://rarediseases.info.nih.gov/diseases/2001/congenital-dyserythropoietic-anemia-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/20014/epithelioid-hemangioendothelioma
https://rarediseases.info.nih.gov/diseases/20014/epithelioid-hemangioendothelioma/diagnosis
https://rarediseases.info.nih.gov/diseases/20015/congenital-pseudoarthrosis-of-the-limbs
https://rarediseases.info.nih.gov/diseases/20015/congenital-pseudoarthrosis-of-the-limbs/diagnosis
https://rarediseases.info.nih.gov/diseases/2002/congenital-dyserythropoietic-anemia-type-iii
https://rarediseases.info.nih.gov/diseases/2002/congenital-dyserythropoietic-anemia-type-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/2003/qualitative-or-quantitative-defects-of-dysferlin
https://rarediseases.info.nih.gov/diseases/2003/qualitative-or-quantitative-defects-of-dysferlin/diagnosis
https://rarediseases.info.nih.gov/diseases/2004/familial-dysfibrinogenemia
https://rarediseases.info.nih.gov/diseases/2004/familial-dysfibrinogenemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2005/extragonadal-germinoma
https://rarediseases.info.nih.gov/diseases/2005/extragonadal-germinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/20050/cryptogenic-late-onset-epileptic-spasms
https://rarediseases.info.nih.gov/diseases/20050/cryptogenic-late-onset-epileptic-spasms/diagnosis
https://rarediseases.info.nih.gov/diseases/20054/x-linked-intellectual-disability-cilliers-type
https://rarediseases.info.nih.gov/diseases/20054/x-linked-intellectual-disability-cilliers-type/diagnosis
https://rarediseases.info.nih.gov/diseases/20065/wound-myiasis
https://rarediseases.info.nih.gov/diseases/20065/wound-myiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/20066/cavitary-myiasis
https://rarediseases.info.nih.gov/diseases/20066/cavitary-myiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked
https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked/diagnosis
https://rarediseases.info.nih.gov/diseases/20072/benign-partial-epilepsy-of-infancy-with-complex-partial-seizures
https://rarediseases.info.nih.gov/diseases/20072/benign-partial-epilepsy-of-infancy-with-complex-partial-seizures/diagnosis
https://rarediseases.info.nih.gov/diseases/20073/benign-partial-epilepsy-with-secondarily-generalized-seizures-in-infancy
https://rarediseases.info.nih.gov/diseases/20073/benign-partial-epilepsy-with-secondarily-generalized-seizures-in-infancy/diagnosis
https://rarediseases.info.nih.gov/diseases/20074/benign-infantile-seizures-associated-with-mild-gastroenteritis
https://rarediseases.info.nih.gov/diseases/20074/benign-infantile-seizures-associated-with-mild-gastroenteritis/diagnosis
https://rarediseases.info.nih.gov/diseases/20075/benign-infantile-focal-epilepsy-with-midline-spikes-and-waves-during-sleep
https://rarediseases.info.nih.gov/diseases/20075/benign-infantile-focal-epilepsy-with-midline-spikes-and-waves-during-sleep/diagnosis
https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin-syndrome
https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20098/dysplasia-of-head-of-femur-meyer-type
https://rarediseases.info.nih.gov/diseases/20098/dysplasia-of-head-of-femur-meyer-type/diagnosis
https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome
https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20112/transient-hypogammaglobulinemia-of-infancy
https://rarediseases.info.nih.gov/diseases/20112/transient-hypogammaglobulinemia-of-infancy/diagnosis
https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis
https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/20122/rectal-duplication
https://rarediseases.info.nih.gov/diseases/20122/rectal-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/20125/microcephaly-polymicrogyria-corpus-callosum-agenesis-syndrome
https://rarediseases.info.nih.gov/diseases/20125/microcephaly-polymicrogyria-corpus-callosum-agenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20126/6q16-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20126/6q16-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20127/craniosynostosis-hydrocephalus-arnold-chiari-malformation-type-i-radioulnar-synostosis-syndrome
https://rarediseases.info.nih.gov/diseases/20127/craniosynostosis-hydrocephalus-arnold-chiari-malformation-type-i-radioulnar-synostosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20129/myopathy-with-hexagonally-cross-linked-tubular-arrays
https://rarediseases.info.nih.gov/diseases/20129/myopathy-with-hexagonally-cross-linked-tubular-arrays/diagnosis
https://rarediseases.info.nih.gov/diseases/20147/osteosclerosis-developmental-delay-craniosynostosis-syndrome
https://rarediseases.info.nih.gov/diseases/20147/osteosclerosis-developmental-delay-craniosynostosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20148/hemorrhagic-disease-due-to-alpha-1-antitrypsin-pittsburgh-mutation
https://rarediseases.info.nih.gov/diseases/20148/hemorrhagic-disease-due-to-alpha-1-antitrypsin-pittsburgh-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/2015/peripheral-dysostosis
https://rarediseases.info.nih.gov/diseases/2015/peripheral-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2016/dysostosis-stanescu-type
https://rarediseases.info.nih.gov/diseases/2016/dysostosis-stanescu-type/diagnosis
https://rarediseases.info.nih.gov/diseases/20174/true-unicornuate-uterus
https://rarediseases.info.nih.gov/diseases/20174/true-unicornuate-uterus/diagnosis
https://rarediseases.info.nih.gov/diseases/20175/pseudounicornuate-uterus
https://rarediseases.info.nih.gov/diseases/20175/pseudounicornuate-uterus/diagnosis
https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica
https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica/diagnosis
https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis
https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type
https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-limb-onset-dystonia
https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-limb-onset-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/2028/primary-dystonia-dyt2-type
https://rarediseases.info.nih.gov/diseases/2028/primary-dystonia-dyt2-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2033/ear-patella-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/2033/ear-patella-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20332/tetragametic-chimerism
https://rarediseases.info.nih.gov/diseases/20332/tetragametic-chimerism/diagnosis
https://rarediseases.info.nih.gov/diseases/20334/isolated-autosomal-dominant-hypomagnesemia-glaudemans-type
https://rarediseases.info.nih.gov/diseases/20334/isolated-autosomal-dominant-hypomagnesemia-glaudemans-type/diagnosis
https://rarediseases.info.nih.gov/diseases/20335/congenital-myopathy-paradas-type
https://rarediseases.info.nih.gov/diseases/20335/congenital-myopathy-paradas-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2035/ebola-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/2035/ebola-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/20350/symptomatic-form-of-muscular-dystrophy-of-duchenne-and-becker-in-female-carriers
https://rarediseases.info.nih.gov/diseases/20350/symptomatic-form-of-muscular-dystrophy-of-duchenne-and-becker-in-female-carriers/diagnosis
https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease
https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly
https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/2044/leukomelanoderma-infantilism-intellectual-disability-hypodontia-hypotrichosis-syndrome
https://rarediseases.info.nih.gov/diseases/2044/leukomelanoderma-infantilism-intellectual-disability-hypodontia-hypotrichosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20441/hypercholesterolemia-due-to-cholesterol-7alpha-hydroxylase-deficiency
https://rarediseases.info.nih.gov/diseases/20441/hypercholesterolemia-due-to-cholesterol-7alpha-hydroxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/20445/benign-nocturnal-alternating-hemiplegia-of-childhood
https://rarediseases.info.nih.gov/diseases/20445/benign-nocturnal-alternating-hemiplegia-of-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/20448/leukonychia-totalis-acanthosis-nigricans-like-lesions-abnormal-hair-syndrome
https://rarediseases.info.nih.gov/diseases/20448/leukonychia-totalis-acanthosis-nigricans-like-lesions-abnormal-hair-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness-syndrome
https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20450/congenital-temporomandibular-joint-ankylosis
https://rarediseases.info.nih.gov/diseases/20450/congenital-temporomandibular-joint-ankylosis/diagnosis
https://rarediseases.info.nih.gov/diseases/20468/hereditary-site-specific-ovarian-cancer-syndrome
https://rarediseases.info.nih.gov/diseases/20468/hereditary-site-specific-ovarian-cancer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2048/autosomal-dominant-hypohidrotic-ectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/2048/autosomal-dominant-hypohidrotic-ectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-hypothyroidism-ciliary-dyskinesia-syndrome
https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-hypothyroidism-ciliary-dyskinesia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2051/ectodermal-dysplasia-intellectual-disability-cns-malformation
https://rarediseases.info.nih.gov/diseases/2051/ectodermal-dysplasia-intellectual-disability-cns-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/20538/macrothrombocytopenia-with-mitral-valve-insufficiency
https://rarediseases.info.nih.gov/diseases/20538/macrothrombocytopenia-with-mitral-valve-insufficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/20549/sporadic-infantile-bilateral-striatal-necrosis
https://rarediseases.info.nih.gov/diseases/20549/sporadic-infantile-bilateral-striatal-necrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type
https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2056/hidrotic-ectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/2056/hidrotic-ectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/20562/hypothyroidism-due-to-deficient-transcription-factors-involved-in-pituitary-development-or-function
https://rarediseases.info.nih.gov/diseases/20562/hypothyroidism-due-to-deficient-transcription-factors-involved-in-pituitary-development-or-function/diagnosis
https://rarediseases.info.nih.gov/diseases/2057/autosomal-recessive-hypohidrotic-ectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/2057/autosomal-recessive-hypohidrotic-ectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/20570/fusariosis
https://rarediseases.info.nih.gov/diseases/20570/fusariosis/diagnosis
https://rarediseases.info.nih.gov/diseases/20585/familial-anetoderma
https://rarediseases.info.nih.gov/diseases/20585/familial-anetoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/20592/virus-associated-trichodysplasia-spinulosa
https://rarediseases.info.nih.gov/diseases/20592/virus-associated-trichodysplasia-spinulosa/diagnosis
https://rarediseases.info.nih.gov/diseases/20593/ptosis-upper-ocular-movement-limitation-absence-of-lacrimal-punctum-syndrome
https://rarediseases.info.nih.gov/diseases/20593/ptosis-upper-ocular-movement-limitation-absence-of-lacrimal-punctum-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20594/polyvalvular-heart-disease-syndrome
https://rarediseases.info.nih.gov/diseases/20594/polyvalvular-heart-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20595/5q35-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/20595/5q35-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/206/nephronophthisis
https://rarediseases.info.nih.gov/diseases/206/nephronophthisis/diagnosis
https://rarediseases.info.nih.gov/diseases/2060/ectopia-lentis-2-isolated-autosomal-recessive
https://rarediseases.info.nih.gov/diseases/2060/ectopia-lentis-2-isolated-autosomal-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/20608/hemoglobin-c-beta-thalassemia-syndrome
https://rarediseases.info.nih.gov/diseases/20608/hemoglobin-c-beta-thalassemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20609/hemoglobin-e-beta-thalassemia-syndrome
https://rarediseases.info.nih.gov/diseases/20609/hemoglobin-e-beta-thalassemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20625/epibulbar-lipodermoid-preauricular-appendage-polythelia-syndrome
https://rarediseases.info.nih.gov/diseases/20625/epibulbar-lipodermoid-preauricular-appendage-polythelia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20643/isolated-congenital-hypogonadotropic-hypogonadism
https://rarediseases.info.nih.gov/diseases/20643/isolated-congenital-hypogonadotropic-hypogonadism/diagnosis
https://rarediseases.info.nih.gov/diseases/20657/inhalational-anthrax
https://rarediseases.info.nih.gov/diseases/20657/inhalational-anthrax/diagnosis
https://rarediseases.info.nih.gov/diseases/20658/autosomal-recessive-secondary-polycythemia-not-associated-with-vhl-gene
https://rarediseases.info.nih.gov/diseases/20658/autosomal-recessive-secondary-polycythemia-not-associated-with-vhl-gene/diagnosis
https://rarediseases.info.nih.gov/diseases/20674/isolated-delta-storage-pool-disease
https://rarediseases.info.nih.gov/diseases/20674/isolated-delta-storage-pool-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20686/autosomal-dominant-optic-atrophy-and-peripheral-neuropathy
https://rarediseases.info.nih.gov/diseases/20686/autosomal-dominant-optic-atrophy-and-peripheral-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/20687/polymicrogyria-with-optic-nerve-hypoplasia
https://rarediseases.info.nih.gov/diseases/20687/polymicrogyria-with-optic-nerve-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/20688/paternal-uniparental-disomy-of-chromosome-1
https://rarediseases.info.nih.gov/diseases/20688/paternal-uniparental-disomy-of-chromosome-1/diagnosis
https://rarediseases.info.nih.gov/diseases/20689/maternal-uniparental-disomy-of-chromosome-1
https://rarediseases.info.nih.gov/diseases/20689/maternal-uniparental-disomy-of-chromosome-1/diagnosis
https://rarediseases.info.nih.gov/diseases/20690/2q311-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20690/2q311-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20691/6p22-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20691/6p22-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20692/7q31-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20692/7q31-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20693/8p112-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/20693/8p112-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/207/alveolar-echinococcosis
https://rarediseases.info.nih.gov/diseases/207/alveolar-echinococcosis/diagnosis
https://rarediseases.info.nih.gov/diseases/20700/sickle-cell-hemoglobin-e-disease-syndrome
https://rarediseases.info.nih.gov/diseases/20700/sickle-cell-hemoglobin-e-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2071/blepharo-cheilo-odontic-syndrome
https://rarediseases.info.nih.gov/diseases/2071/blepharo-cheilo-odontic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome
https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome
https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20767/mitochondrial-dna-related-dystonia
https://rarediseases.info.nih.gov/diseases/20767/mitochondrial-dna-related-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/20768/pure-mitochondrial-myopathy
https://rarediseases.info.nih.gov/diseases/20768/pure-mitochondrial-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/20770/distal-7q1123-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/20770/distal-7q1123-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20772/16p112p122-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/20772/16p112p122-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20773/14q112-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/20773/14q112-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20774/16p1311-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20774/16p1311-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20775/16p1311-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/20775/16p1311-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20776/distal-17p133-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20776/distal-17p133-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20777/paternal-20q132q133-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20777/paternal-20q132q133-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20778/20q1333-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20778/20q1333-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20779/21q2211q2212-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/20779/21q2211q2212-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome
https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20780/distal-22q112-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/20780/distal-22q112-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20781/trisomy-1q
https://rarediseases.info.nih.gov/diseases/20781/trisomy-1q/diagnosis
https://rarediseases.info.nih.gov/diseases/20782/atypical-norrie-disease-due-to-xp113-microdeletion
https://rarediseases.info.nih.gov/diseases/20782/atypical-norrie-disease-due-to-xp113-microdeletion/diagnosis
https://rarediseases.info.nih.gov/diseases/20783/maternal-uniparental-disomy-of-chromosome-x
https://rarediseases.info.nih.gov/diseases/20783/maternal-uniparental-disomy-of-chromosome-x/diagnosis
https://rarediseases.info.nih.gov/diseases/20784/paternal-uniparental-disomy-of-chromosome-x
https://rarediseases.info.nih.gov/diseases/20784/paternal-uniparental-disomy-of-chromosome-x/diagnosis
https://rarediseases.info.nih.gov/diseases/20785/ring-chromosome-y-syndrome
https://rarediseases.info.nih.gov/diseases/20785/ring-chromosome-y-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2088/classical-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/2088/classical-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2089/dermatosparaxis-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/2089/dermatosparaxis-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20899/infantile-spasms-psychomotor-retardation-progressive-brain-atrophy-basal-ganglia-disease-syndrome
https://rarediseases.info.nih.gov/diseases/20899/infantile-spasms-psychomotor-retardation-progressive-brain-atrophy-basal-ganglia-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20903/hyperinsulinism-due-to-hnf4a-deficiency
https://rarediseases.info.nih.gov/diseases/20903/hyperinsulinism-due-to-hnf4a-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2092/ehrlichiosis
https://rarediseases.info.nih.gov/diseases/2092/ehrlichiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/20920/trisomy-8p
https://rarediseases.info.nih.gov/diseases/20920/trisomy-8p/diagnosis
https://rarediseases.info.nih.gov/diseases/20946/mycophenolate-mofetil-embryopathy
https://rarediseases.info.nih.gov/diseases/20946/mycophenolate-mofetil-embryopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/2096/acrocephalopolydactyly
https://rarediseases.info.nih.gov/diseases/2096/acrocephalopolydactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/20965/posterior-meningocele
https://rarediseases.info.nih.gov/diseases/20965/posterior-meningocele/diagnosis
https://rarediseases.info.nih.gov/diseases/20968/cranial-meningocele
https://rarediseases.info.nih.gov/diseases/20968/cranial-meningocele/diagnosis
https://rarediseases.info.nih.gov/diseases/20973/leptomyelolipoma
https://rarediseases.info.nih.gov/diseases/20973/leptomyelolipoma/diagnosis
https://rarediseases.info.nih.gov/diseases/20975/neurenteric-cyst
https://rarediseases.info.nih.gov/diseases/20975/neurenteric-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/20976/isolated-amyelia
https://rarediseases.info.nih.gov/diseases/20976/isolated-amyelia/diagnosis
https://rarediseases.info.nih.gov/diseases/2098/microcephaly-cardiac-defect-lung-malsegmentation-syndrome
https://rarediseases.info.nih.gov/diseases/2098/microcephaly-cardiac-defect-lung-malsegmentation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/20980/unilateral-polymicrogyria
https://rarediseases.info.nih.gov/diseases/20980/unilateral-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/2104/congenital-lobar-emphysema
https://rarediseases.info.nih.gov/diseases/2104/congenital-lobar-emphysema/diagnosis
https://rarediseases.info.nih.gov/diseases/21041/bile-acid-coa-ligase-deficiency-and-defective-amidation
https://rarediseases.info.nih.gov/diseases/21041/bile-acid-coa-ligase-deficiency-and-defective-amidation/diagnosis
https://rarediseases.info.nih.gov/diseases/21051/hemihyperplasia-multiple-lipomatosis-syndrome
https://rarediseases.info.nih.gov/diseases/21051/hemihyperplasia-multiple-lipomatosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21052/10q223q233-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/21052/10q223q233-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21054/hyperinsulinism-due-to-ucp2-deficiency
https://rarediseases.info.nih.gov/diseases/21054/hyperinsulinism-due-to-ucp2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21057/symptomatic-form-of-coffin-lowry-syndrome-in-female-carriers
https://rarediseases.info.nih.gov/diseases/21057/symptomatic-form-of-coffin-lowry-syndrome-in-female-carriers/diagnosis
https://rarediseases.info.nih.gov/diseases/21078/distal-monosomy-12p
https://rarediseases.info.nih.gov/diseases/21078/distal-monosomy-12p/diagnosis
https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis
https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21080/autosomal-semi-dominant-severe-lipodystrophic-laminopathy
https://rarediseases.info.nih.gov/diseases/21080/autosomal-semi-dominant-severe-lipodystrophic-laminopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/21083/recessive-intellectual-disability-motor-dysfunction-multiple-joint-contractures-syndrome
https://rarediseases.info.nih.gov/diseases/21083/recessive-intellectual-disability-motor-dysfunction-multiple-joint-contractures-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21084/familial-alzheimer-like-prion-disease
https://rarediseases.info.nih.gov/diseases/21084/familial-alzheimer-like-prion-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/21086/familial-omphalocele-syndrome-with-facial-dysmorphism
https://rarediseases.info.nih.gov/diseases/21086/familial-omphalocele-syndrome-with-facial-dysmorphism/diagnosis
https://rarediseases.info.nih.gov/diseases/21108/acral-self-healing-collodion-baby
https://rarediseases.info.nih.gov/diseases/21108/acral-self-healing-collodion-baby/diagnosis
https://rarediseases.info.nih.gov/diseases/21117/xp2213p222-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/21117/xp2213p222-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21128/neonatal-marfan-syndrome
https://rarediseases.info.nih.gov/diseases/21128/neonatal-marfan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2113/bonnemann-meinecke-reich-syndrome
https://rarediseases.info.nih.gov/diseases/2113/bonnemann-meinecke-reich-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21134/early-onset-epileptic-encephalopathy-and-intellectual-disability-due-to-grin2a-mutation
https://rarediseases.info.nih.gov/diseases/21134/early-onset-epileptic-encephalopathy-and-intellectual-disability-due-to-grin2a-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/21135/infective-dermatitis-associated-with-htlv-1
https://rarediseases.info.nih.gov/diseases/21135/infective-dermatitis-associated-with-htlv-1/diagnosis
https://rarediseases.info.nih.gov/diseases/21141/12q15q211-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21141/12q15q211-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21142/microtriplication-11q241
https://rarediseases.info.nih.gov/diseases/21142/microtriplication-11q241/diagnosis
https://rarediseases.info.nih.gov/diseases/21143/inherited-isolated-adrenal-insufficiency-due-to-partial-cyp11a1-deficiency
https://rarediseases.info.nih.gov/diseases/21143/inherited-isolated-adrenal-insufficiency-due-to-partial-cyp11a1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21167/grayson-wilbrandt-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/21167/grayson-wilbrandt-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/21168/pre-descemet-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/21168/pre-descemet-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood
https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/21173/1p213-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21173/1p213-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21174/hypogonadotropic-hypogonadism-severe-microcephaly-sensorineural-hearing-loss-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/21174/hypogonadotropic-hypogonadism-severe-microcephaly-sensorineural-hearing-loss-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21190/amelia-of-upper-limb
https://rarediseases.info.nih.gov/diseases/21190/amelia-of-upper-limb/diagnosis
https://rarediseases.info.nih.gov/diseases/21191/amelia-of-lower-limb
https://rarediseases.info.nih.gov/diseases/21191/amelia-of-lower-limb/diagnosis
https://rarediseases.info.nih.gov/diseases/21192/humeral-agenesishypoplasia
https://rarediseases.info.nih.gov/diseases/21192/humeral-agenesishypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/21193/congenital-absence-of-thigh-and-lower-leg-with-foot-present
https://rarediseases.info.nih.gov/diseases/21193/congenital-absence-of-thigh-and-lower-leg-with-foot-present/diagnosis
https://rarediseases.info.nih.gov/diseases/21194/congenital-absence-of-both-forearm-and-hand
https://rarediseases.info.nih.gov/diseases/21194/congenital-absence-of-both-forearm-and-hand/diagnosis
https://rarediseases.info.nih.gov/diseases/21195/congenital-absence-of-both-lower-leg-and-foot
https://rarediseases.info.nih.gov/diseases/21195/congenital-absence-of-both-lower-leg-and-foot/diagnosis
https://rarediseases.info.nih.gov/diseases/21196/acheiria
https://rarediseases.info.nih.gov/diseases/21196/acheiria/diagnosis
https://rarediseases.info.nih.gov/diseases/21197/apodia
https://rarediseases.info.nih.gov/diseases/21197/apodia/diagnosis
https://rarediseases.info.nih.gov/diseases/21199/hyperphalangy
https://rarediseases.info.nih.gov/diseases/21199/hyperphalangy/diagnosis
https://rarediseases.info.nih.gov/diseases/212/oculodental-syndrome-rutherfurd-type
https://rarediseases.info.nih.gov/diseases/212/oculodental-syndrome-rutherfurd-type/diagnosis
https://rarediseases.info.nih.gov/diseases/21200/central-polydactyly
https://rarediseases.info.nih.gov/diseases/21200/central-polydactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/21201/syndactyly-type-6
https://rarediseases.info.nih.gov/diseases/21201/syndactyly-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/21202/familial-isolated-clinodactyly-of-fingers
https://rarediseases.info.nih.gov/diseases/21202/familial-isolated-clinodactyly-of-fingers/diagnosis
https://rarediseases.info.nih.gov/diseases/21208/tibio-fibular-synostosis
https://rarediseases.info.nih.gov/diseases/21208/tibio-fibular-synostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21209/true-congenital-shoulder-dislocation
https://rarediseases.info.nih.gov/diseases/21209/true-congenital-shoulder-dislocation/diagnosis
https://rarediseases.info.nih.gov/diseases/21210/isolated-congenital-radial-head-dislocation
https://rarediseases.info.nih.gov/diseases/21210/isolated-congenital-radial-head-dislocation/diagnosis
https://rarediseases.info.nih.gov/diseases/21211/congenital-knee-dislocation
https://rarediseases.info.nih.gov/diseases/21211/congenital-knee-dislocation/diagnosis
https://rarediseases.info.nih.gov/diseases/21213/lower-limb-hypertrophy
https://rarediseases.info.nih.gov/diseases/21213/lower-limb-hypertrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/2123/eng-strom-syndrome
https://rarediseases.info.nih.gov/diseases/2123/eng-strom-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21232/11p154-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/21232/11p154-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2125/glycogen-storage-disease-due-to-muscle-beta-enolase-deficiency
https://rarediseases.info.nih.gov/diseases/2125/glycogen-storage-disease-due-to-muscle-beta-enolase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21254/primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis
https://rarediseases.info.nih.gov/diseases/21254/primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21255/myospherulosis
https://rarediseases.info.nih.gov/diseases/21255/myospherulosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21262/hemiparkinsonism-hemiatrophy-syndrome
https://rarediseases.info.nih.gov/diseases/21262/hemiparkinsonism-hemiatrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21299/focal-acral-hyperkeratosis
https://rarediseases.info.nih.gov/diseases/21299/focal-acral-hyperkeratosis/diagnosis
https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum
https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum/diagnosis
https://rarediseases.info.nih.gov/diseases/2130/congenital-enterovirus-infection
https://rarediseases.info.nih.gov/diseases/2130/congenital-enterovirus-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/21315/mevalonate-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/21315/mevalonate-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21360/20p13-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21360/20p13-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21363/2q231-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/21363/2q231-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21364/contractures-webbed-neck-micrognathia-hypoplastic-nipples-syndrome
https://rarediseases.info.nih.gov/diseases/21364/contractures-webbed-neck-micrognathia-hypoplastic-nipples-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21366/high-bone-mass-osteogenesis-imperfecta
https://rarediseases.info.nih.gov/diseases/21366/high-bone-mass-osteogenesis-imperfecta/diagnosis
https://rarediseases.info.nih.gov/diseases/21367/7p221-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/21367/7p221-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21368/marfanoid-habitus-inguinal-hernia-advanced-bone-age-syndrome
https://rarediseases.info.nih.gov/diseases/21368/marfanoid-habitus-inguinal-hernia-advanced-bone-age-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21369/xq12-q133-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/21369/xq12-q133-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2137/epidermolysis-bullosa-simplex-with-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/2137/epidermolysis-bullosa-simplex-with-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/21371/spigelian-hernia-cryptorchidism-syndrome
https://rarediseases.info.nih.gov/diseases/21371/spigelian-hernia-cryptorchidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21378/autosomal-recessive-leukoencephalopathy-ischemic-stroke-retinitis-pigmentosa-syndrome
https://rarediseases.info.nih.gov/diseases/21378/autosomal-recessive-leukoencephalopathy-ischemic-stroke-retinitis-pigmentosa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21379/intellectual-disability-hypotonia-brachycephaly-pyloric-stenosis-cryptorchidism-syndrome
https://rarediseases.info.nih.gov/diseases/21379/intellectual-disability-hypotonia-brachycephaly-pyloric-stenosis-cryptorchidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21381/duplication-of-the-pituitary-gland
https://rarediseases.info.nih.gov/diseases/21381/duplication-of-the-pituitary-gland/diagnosis
https://rarediseases.info.nih.gov/diseases/21382/variant-abeta2m-amyloidosis
https://rarediseases.info.nih.gov/diseases/21382/variant-abeta2m-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21384/segmental-progressive-overgrowth-syndrome-with-fibroadipose-hyperplasia
https://rarediseases.info.nih.gov/diseases/21384/segmental-progressive-overgrowth-syndrome-with-fibroadipose-hyperplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2139/autosomal-dominant-generalized-dystrophic-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/2139/autosomal-dominant-generalized-dystrophic-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/21407/diencephalic-mesencephalic-junction-dysplasia
https://rarediseases.info.nih.gov/diseases/21407/diencephalic-mesencephalic-junction-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/21408/chondroectodermal-dysplasia-with-night-blindness
https://rarediseases.info.nih.gov/diseases/21408/chondroectodermal-dysplasia-with-night-blindness/diagnosis
https://rarediseases.info.nih.gov/diseases/2141/autosomal-dominant-generalized-epidermolysis-bullosa-simplex-severe-form
https://rarediseases.info.nih.gov/diseases/2141/autosomal-dominant-generalized-epidermolysis-bullosa-simplex-severe-form/diagnosis
https://rarediseases.info.nih.gov/diseases/21410/lujo-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/21410/lujo-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/21411/argentine-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/21411/argentine-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/21412/bolivian-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/21412/bolivian-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/21413/venezuelan-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/21413/venezuelan-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/21414/brazilian-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/21414/brazilian-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/21415/chapare-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/21415/chapare-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/21416/rift-valley-fever
https://rarediseases.info.nih.gov/diseases/21416/rift-valley-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/2143/junctional-epidermolysis-bullosa-inversa
https://rarediseases.info.nih.gov/diseases/2143/junctional-epidermolysis-bullosa-inversa/diagnosis
https://rarediseases.info.nih.gov/diseases/21433/mt-atp6-related-mitochondrial-spastic-paraplegia
https://rarediseases.info.nih.gov/diseases/21433/mt-atp6-related-mitochondrial-spastic-paraplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/21435/multiple-paragangliomas-associated-with-polycythemia
https://rarediseases.info.nih.gov/diseases/21435/multiple-paragangliomas-associated-with-polycythemia/diagnosis
https://rarediseases.info.nih.gov/diseases/21436/severe-lateral-tibial-bowing-with-short-stature
https://rarediseases.info.nih.gov/diseases/21436/severe-lateral-tibial-bowing-with-short-stature/diagnosis
https://rarediseases.info.nih.gov/diseases/21437/9p13-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21437/9p13-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21438/congenital-achiasma
https://rarediseases.info.nih.gov/diseases/21438/congenital-achiasma/diagnosis
https://rarediseases.info.nih.gov/diseases/21439/mixed-sclerosing-bone-dystrophy-with-extra-skeletal-manifestations
https://rarediseases.info.nih.gov/diseases/21439/mixed-sclerosing-bone-dystrophy-with-extra-skeletal-manifestations/diagnosis
https://rarediseases.info.nih.gov/diseases/21440/hereditary-inclusion-body-myopathy-type-4
https://rarediseases.info.nih.gov/diseases/21440/hereditary-inclusion-body-myopathy-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/21441/muscular-hypertrophy-hepatomegaly-polyhydramnios-syndrome
https://rarediseases.info.nih.gov/diseases/21441/muscular-hypertrophy-hepatomegaly-polyhydramnios-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21442/hypertrophic-cardiomyopathy-with-kidney-anomalies-due-to-mitochondrial-dna-mutation
https://rarediseases.info.nih.gov/diseases/21442/hypertrophic-cardiomyopathy-with-kidney-anomalies-due-to-mitochondrial-dna-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/21443/aphonia-deafness-retinal-dystrophy-bifid-halluces-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/21443/aphonia-deafness-retinal-dystrophy-bifid-halluces-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21444/hyperinsulinism-due-to-hnf1a-deficiency
https://rarediseases.info.nih.gov/diseases/21444/hyperinsulinism-due-to-hnf1a-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21445/benign-samaritan-congenital-myopathy
https://rarediseases.info.nih.gov/diseases/21445/benign-samaritan-congenital-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/21446/autosomal-dominant-intermediate-charcot-marie-tooth-disease-with-neuropathic-pain
https://rarediseases.info.nih.gov/diseases/21446/autosomal-dominant-intermediate-charcot-marie-tooth-disease-with-neuropathic-pain/diagnosis
https://rarediseases.info.nih.gov/diseases/21447/autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-kif5a-mutation
https://rarediseases.info.nih.gov/diseases/21447/autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-kif5a-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/21448/hendra-virus-infection
https://rarediseases.info.nih.gov/diseases/21448/hendra-virus-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/21449/invasive-non-typhoidal-salmonellosis
https://rarediseases.info.nih.gov/diseases/21449/invasive-non-typhoidal-salmonellosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2146/localized-epidermolysis-bullosa-simplex
https://rarediseases.info.nih.gov/diseases/2146/localized-epidermolysis-bullosa-simplex/diagnosis
https://rarediseases.info.nih.gov/diseases/21469/46xy-ovotesticular-disorder-of-sex-development
https://rarediseases.info.nih.gov/diseases/21469/46xy-ovotesticular-disorder-of-sex-development/diagnosis
https://rarediseases.info.nih.gov/diseases/2147/autosomal-dominant-generalized-epidermolysis-bullosa-simplex-intermediate-form
https://rarediseases.info.nih.gov/diseases/2147/autosomal-dominant-generalized-epidermolysis-bullosa-simplex-intermediate-form/diagnosis
https://rarediseases.info.nih.gov/diseases/2148/plec-related-intermediate-epidermolysis-bullosa-simplex-without-extracutaneous-involvement
https://rarediseases.info.nih.gov/diseases/2148/plec-related-intermediate-epidermolysis-bullosa-simplex-without-extracutaneous-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/21487/thrombocythemia-with-distal-limb-defects
https://rarediseases.info.nih.gov/diseases/21487/thrombocythemia-with-distal-limb-defects/diagnosis
https://rarediseases.info.nih.gov/diseases/21489/autosomal-recessive-frontotemporal-pachygyria
https://rarediseases.info.nih.gov/diseases/21489/autosomal-recessive-frontotemporal-pachygyria/diagnosis
https://rarediseases.info.nih.gov/diseases/21491/spastic-paraplegia-paget-disease-of-bone-syndrome
https://rarediseases.info.nih.gov/diseases/21491/spastic-paraplegia-paget-disease-of-bone-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21492/adult-onset-distal-myopathy-due-to-vcp-mutation
https://rarediseases.info.nih.gov/diseases/21492/adult-onset-distal-myopathy-due-to-vcp-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/21493/mosaic-genome-wide-paternal-uniparental-disomy
https://rarediseases.info.nih.gov/diseases/21493/mosaic-genome-wide-paternal-uniparental-disomy/diagnosis
https://rarediseases.info.nih.gov/diseases/21498/transient-neonatal-multiple-acyl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/21498/transient-neonatal-multiple-acyl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21499/intermittent-hydrarthrosis
https://rarediseases.info.nih.gov/diseases/21499/intermittent-hydrarthrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/215/familial-caudal-dysgenesis
https://rarediseases.info.nih.gov/diseases/215/familial-caudal-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/2150/dystrophic-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/2150/dystrophic-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/21504/hypotrichosis-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/21504/hypotrichosis-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21505/hemoglobin-lepore-beta-thalassemia-syndrome
https://rarediseases.info.nih.gov/diseases/21505/hemoglobin-lepore-beta-thalassemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/21521/intellectual-disability-obesity-brain-malformations-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/21521/intellectual-disability-obesity-brain-malformations-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21522/focal-epilepsy-intellectual-disability-cerebro-cerebellar-malformation
https://rarediseases.info.nih.gov/diseases/21522/focal-epilepsy-intellectual-disability-cerebro-cerebellar-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/21523/16q241-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21523/16q241-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21524/phalangeal-microgeodic-syndrome
https://rarediseases.info.nih.gov/diseases/21524/phalangeal-microgeodic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21525/autosomal-recessive-cerebellar-ataxia-with-late-onset-spasticity
https://rarediseases.info.nih.gov/diseases/21525/autosomal-recessive-cerebellar-ataxia-with-late-onset-spasticity/diagnosis
https://rarediseases.info.nih.gov/diseases/21527/attenuated-chdiak-higashi-syndrome
https://rarediseases.info.nih.gov/diseases/21527/attenuated-chdiak-higashi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2153/severe-generalized-junctional-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/2153/severe-generalized-junctional-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/21530/congenital-retinal-arteriovenous-communication
https://rarediseases.info.nih.gov/diseases/21530/congenital-retinal-arteriovenous-communication/diagnosis
https://rarediseases.info.nih.gov/diseases/21534/3q26q27-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21534/3q26q27-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21538/primary-non-essential-cutis-verticis-gyrata
https://rarediseases.info.nih.gov/diseases/21538/primary-non-essential-cutis-verticis-gyrata/diagnosis
https://rarediseases.info.nih.gov/diseases/2155/localized-dystrophic-epidermolysis-bullosa-pretibial-form
https://rarediseases.info.nih.gov/diseases/2155/localized-dystrophic-epidermolysis-bullosa-pretibial-form/diagnosis
https://rarediseases.info.nih.gov/diseases/21555/lmna-related-cardiocutaneous-progeria-syndrome
https://rarediseases.info.nih.gov/diseases/21555/lmna-related-cardiocutaneous-progeria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21556/20q112-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/21556/20q112-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21557/2p132-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21557/2p132-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21560/autosomal-recessive-cerebral-atrophy
https://rarediseases.info.nih.gov/diseases/21560/autosomal-recessive-cerebral-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/21565/severe-early-childhood-onset-retinal-dystrophy
https://rarediseases.info.nih.gov/diseases/21565/severe-early-childhood-onset-retinal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/21566/bipartite-talus
https://rarediseases.info.nih.gov/diseases/21566/bipartite-talus/diagnosis
https://rarediseases.info.nih.gov/diseases/21579/intellectual-disability-hyperkinetic-movement-truncal-ataxia-syndrome
https://rarediseases.info.nih.gov/diseases/21579/intellectual-disability-hyperkinetic-movement-truncal-ataxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21581/2p21-microdeletion-syndrome-without-cystinuria
https://rarediseases.info.nih.gov/diseases/21581/2p21-microdeletion-syndrome-without-cystinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/21583/intellectual-disability-seizures-macrocephaly-obesity-syndrome
https://rarediseases.info.nih.gov/diseases/21583/intellectual-disability-seizures-macrocephaly-obesity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21584/finger-hyperphalangy-toe-anomalies-severe-pectus-excavatum-syndrome
https://rarediseases.info.nih.gov/diseases/21584/finger-hyperphalangy-toe-anomalies-severe-pectus-excavatum-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21585/intellectual-disability-facial-dysmorphism-hand-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/21585/intellectual-disability-facial-dysmorphism-hand-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21586/spondyloepimetaphyseal-dysplasia-isidor-type
https://rarediseases.info.nih.gov/diseases/21586/spondyloepimetaphyseal-dysplasia-isidor-type/diagnosis
https://rarediseases.info.nih.gov/diseases/21587/spondylometaphyseal-dysplasia-czarny-ratajczak-type
https://rarediseases.info.nih.gov/diseases/21587/spondylometaphyseal-dysplasia-czarny-ratajczak-type/diagnosis
https://rarediseases.info.nih.gov/diseases/21595/fetal-carbamazepine-syndrome
https://rarediseases.info.nih.gov/diseases/21595/fetal-carbamazepine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21597/ataxia-telangiectasia-variant
https://rarediseases.info.nih.gov/diseases/21597/ataxia-telangiectasia-variant/diagnosis
https://rarediseases.info.nih.gov/diseases/21598/medich-giant-platelet-syndrome
https://rarediseases.info.nih.gov/diseases/21598/medich-giant-platelet-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21599/xylt1-cdg
https://rarediseases.info.nih.gov/diseases/21599/xylt1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/216/camptodactyly-joint-contractures-facial-skeletal-defects-syndrome
https://rarediseases.info.nih.gov/diseases/216/camptodactyly-joint-contractures-facial-skeletal-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21600/congenital-muscular-dystrophy-with-hyperlaxity
https://rarediseases.info.nih.gov/diseases/21600/congenital-muscular-dystrophy-with-hyperlaxity/diagnosis
https://rarediseases.info.nih.gov/diseases/21619/infantile-onset-mesial-temporal-lobe-epilepsy-with-severe-cognitive-regression
https://rarediseases.info.nih.gov/diseases/21619/infantile-onset-mesial-temporal-lobe-epilepsy-with-severe-cognitive-regression/diagnosis
https://rarediseases.info.nih.gov/diseases/2162/juvenile-absence-epilepsy
https://rarediseases.info.nih.gov/diseases/2162/juvenile-absence-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/21620/fatal-post-viral-neurodegenerative-disorder
https://rarediseases.info.nih.gov/diseases/21620/fatal-post-viral-neurodegenerative-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/21621/growth-retardation-mild-developmental-delay-chronic-hepatitis-syndrome
https://rarediseases.info.nih.gov/diseases/21621/growth-retardation-mild-developmental-delay-chronic-hepatitis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type
https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type/diagnosis
https://rarediseases.info.nih.gov/diseases/21631/deep-dermatophytosis
https://rarediseases.info.nih.gov/diseases/21631/deep-dermatophytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21632/prp-systemic-amyloidosis
https://rarediseases.info.nih.gov/diseases/21632/prp-systemic-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21633/3q273-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21633/3q273-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21634/periodic-paralysis-with-later-onset-distal-motor-neuropathy
https://rarediseases.info.nih.gov/diseases/21634/periodic-paralysis-with-later-onset-distal-motor-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/21637/ferro-cerebro-cutaneous-syndrome
https://rarediseases.info.nih.gov/diseases/21637/ferro-cerebro-cutaneous-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21655/klhl9-related-early-onset-distal-myopathy
https://rarediseases.info.nih.gov/diseases/21655/klhl9-related-early-onset-distal-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/21656/distal-nebulin-myopathy
https://rarediseases.info.nih.gov/diseases/21656/distal-nebulin-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/2166/celiac-disease-epilepsy-cerebral-calcification-syndrome
https://rarediseases.info.nih.gov/diseases/2166/celiac-disease-epilepsy-cerebral-calcification-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2167/progressive-myoclonic-epilepsy-type-3
https://rarediseases.info.nih.gov/diseases/2167/progressive-myoclonic-epilepsy-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/2168/epilepsy-telangiectasia-syndrome
https://rarediseases.info.nih.gov/diseases/2168/epilepsy-telangiectasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy
https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/21695/autosomal-recessive-spastic-paraplegia-type-59
https://rarediseases.info.nih.gov/diseases/21695/autosomal-recessive-spastic-paraplegia-type-59/diagnosis
https://rarediseases.info.nih.gov/diseases/21696/autosomal-recessive-spastic-paraplegia-type-60
https://rarediseases.info.nih.gov/diseases/21696/autosomal-recessive-spastic-paraplegia-type-60/diagnosis
https://rarediseases.info.nih.gov/diseases/21697/autosomal-recessive-spastic-paraplegia-type-66
https://rarediseases.info.nih.gov/diseases/21697/autosomal-recessive-spastic-paraplegia-type-66/diagnosis
https://rarediseases.info.nih.gov/diseases/21698/autosomal-recessive-spastic-paraplegia-type-67
https://rarediseases.info.nih.gov/diseases/21698/autosomal-recessive-spastic-paraplegia-type-67/diagnosis
https://rarediseases.info.nih.gov/diseases/21699/autosomal-recessive-spastic-paraplegia-type-69
https://rarediseases.info.nih.gov/diseases/21699/autosomal-recessive-spastic-paraplegia-type-69/diagnosis
https://rarediseases.info.nih.gov/diseases/2170/benign-occipital-epilepsy
https://rarediseases.info.nih.gov/diseases/2170/benign-occipital-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/21700/autosomal-recessive-spastic-paraplegia-type-70
https://rarediseases.info.nih.gov/diseases/21700/autosomal-recessive-spastic-paraplegia-type-70/diagnosis
https://rarediseases.info.nih.gov/diseases/21701/autosomal-recessive-spastic-paraplegia-type-71
https://rarediseases.info.nih.gov/diseases/21701/autosomal-recessive-spastic-paraplegia-type-71/diagnosis
https://rarediseases.info.nih.gov/diseases/21702/huntington-disease-like-syndrome-due-to-c9orf72-expansions
https://rarediseases.info.nih.gov/diseases/21702/huntington-disease-like-syndrome-due-to-c9orf72-expansions/diagnosis
https://rarediseases.info.nih.gov/diseases/21705/9q311q313-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21705/9q311q313-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21706/14q241q243-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21706/14q241q243-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21707/partial-corpus-callosum-agenesis-cerebellar-vermis-hypoplasia-with-posterior-fossa-cysts-syndrome
https://rarediseases.info.nih.gov/diseases/21707/partial-corpus-callosum-agenesis-cerebellar-vermis-hypoplasia-with-posterior-fossa-cysts-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21716/hepatitis-delta
https://rarediseases.info.nih.gov/diseases/21716/hepatitis-delta/diagnosis
https://rarediseases.info.nih.gov/diseases/21717/fbln1-related-developmental-delay-central-nervous-system-anomaly-syndactyly-syndrome
https://rarediseases.info.nih.gov/diseases/21717/fbln1-related-developmental-delay-central-nervous-system-anomaly-syndactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21723/spinal-muscular-atrophy-with-respiratory-distress-type-2
https://rarediseases.info.nih.gov/diseases/21723/spinal-muscular-atrophy-with-respiratory-distress-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/2173/familial-partial-epilepsy
https://rarediseases.info.nih.gov/diseases/2173/familial-partial-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/21737/13q123-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21737/13q123-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21738/prkar1b-related-neurodegenerative-dementia-with-intermediate-filaments
https://rarediseases.info.nih.gov/diseases/21738/prkar1b-related-neurodegenerative-dementia-with-intermediate-filaments/diagnosis
https://rarediseases.info.nih.gov/diseases/21739/dystonia-aphonia-syndrome
https://rarediseases.info.nih.gov/diseases/21739/dystonia-aphonia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21747/autosomal-recessive-severe-congenital-neutropenia-due-to-cxcr2-deficiency
https://rarediseases.info.nih.gov/diseases/21747/autosomal-recessive-severe-congenital-neutropenia-due-to-cxcr2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21750/cono-spondylar-dysplasia
https://rarediseases.info.nih.gov/diseases/21750/cono-spondylar-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/21751/microcephaly-short-stature-intellectual-disability-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/21751/microcephaly-short-stature-intellectual-disability-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21752/x-linked-intellectual-disability-limb-spasticity-retinal-dystrophy-diabetes-insipidus-syndrome
https://rarediseases.info.nih.gov/diseases/21752/x-linked-intellectual-disability-limb-spasticity-retinal-dystrophy-diabetes-insipidus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21762/microcephaly-complex-motor-and-sensory-axonal-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/21762/microcephaly-complex-motor-and-sensory-axonal-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21783/congenital-myopathy-with-myasthenic-like-onset
https://rarediseases.info.nih.gov/diseases/21783/congenital-myopathy-with-myasthenic-like-onset/diagnosis
https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome
https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-type-1
https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/21813/3p253-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21813/3p253-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21815/autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-tfg-mutation
https://rarediseases.info.nih.gov/diseases/21815/autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-tfg-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/21816/contractures-developmental-delay-pierre-robin-syndrome
https://rarediseases.info.nih.gov/diseases/21816/contractures-developmental-delay-pierre-robin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21817/severe-intellectual-disability-hypotonia-strabismus-coarse-face-planovalgus-syndrome
https://rarediseases.info.nih.gov/diseases/21817/severe-intellectual-disability-hypotonia-strabismus-coarse-face-planovalgus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21818/intrauterine-growth-restriction-short-stature-early-adult-onset-diabetes-syndrome
https://rarediseases.info.nih.gov/diseases/21818/intrauterine-growth-restriction-short-stature-early-adult-onset-diabetes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21819/non-progressive-predominantly-posterior-cavitating-leukoencephalopathy-with-peripheral-neuropathy
https://rarediseases.info.nih.gov/diseases/21819/non-progressive-predominantly-posterior-cavitating-leukoencephalopathy-with-peripheral-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/21820/pseudoxanthoma-elasticum-like-skin-manifestations-with-retinitis-pigmentosa
https://rarediseases.info.nih.gov/diseases/21820/pseudoxanthoma-elasticum-like-skin-manifestations-with-retinitis-pigmentosa/diagnosis
https://rarediseases.info.nih.gov/diseases/21822/human-infection-by-orthopoxvirus
https://rarediseases.info.nih.gov/diseases/21822/human-infection-by-orthopoxvirus/diagnosis
https://rarediseases.info.nih.gov/diseases/2183/acute-posterior-multifocal-placoid-pigment-epitheliopathy
https://rarediseases.info.nih.gov/diseases/2183/acute-posterior-multifocal-placoid-pigment-epitheliopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/21836/congenital-oculomotor-nerve-palsy
https://rarediseases.info.nih.gov/diseases/21836/congenital-oculomotor-nerve-palsy/diagnosis
https://rarediseases.info.nih.gov/diseases/21837/congenital-abducens-nerve-palsy
https://rarediseases.info.nih.gov/diseases/21837/congenital-abducens-nerve-palsy/diagnosis
https://rarediseases.info.nih.gov/diseases/21838/autosomal-dominant-myopia-midfacial-retrusion-sensorineural-hearing-loss-rhizomelic-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/21838/autosomal-dominant-myopia-midfacial-retrusion-sensorineural-hearing-loss-rhizomelic-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21839/necrotizing-soft-tissue-infection
https://rarediseases.info.nih.gov/diseases/21839/necrotizing-soft-tissue-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/21840/familial-colorectal-cancer-type-x
https://rarediseases.info.nih.gov/diseases/21840/familial-colorectal-cancer-type-x/diagnosis
https://rarediseases.info.nih.gov/diseases/21855/paratyphoid-fever
https://rarediseases.info.nih.gov/diseases/21855/paratyphoid-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/21858/11q222q223-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21858/11q222q223-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21859/20q112-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21859/20q112-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21864/nik-deficiency
https://rarediseases.info.nih.gov/diseases/21864/nik-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21866/autosomal-dominant-spastic-paraplegia-type-9b
https://rarediseases.info.nih.gov/diseases/21866/autosomal-dominant-spastic-paraplegia-type-9b/diagnosis
https://rarediseases.info.nih.gov/diseases/21875/19p133-microduplication-syndrome
https://rarediseases.info.nih.gov/diseases/21875/19p133-microduplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp
https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp/diagnosis
https://rarediseases.info.nih.gov/diseases/21880/scedosporiosis
https://rarediseases.info.nih.gov/diseases/21880/scedosporiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/21890/congenital-insensitivity-to-pain-with-severe-intellectual-disability
https://rarediseases.info.nih.gov/diseases/21890/congenital-insensitivity-to-pain-with-severe-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/21895/isolated-tracheoesophageal-fistula
https://rarediseases.info.nih.gov/diseases/21895/isolated-tracheoesophageal-fistula/diagnosis
https://rarediseases.info.nih.gov/diseases/21898/1p352-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/21898/1p352-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21899/hereditary-neuroendocrine-tumor-of-small-intestine
https://rarediseases.info.nih.gov/diseases/21899/hereditary-neuroendocrine-tumor-of-small-intestine/diagnosis
https://rarediseases.info.nih.gov/diseases/21904/infantile-onset-axonal-motor-and-sensory-neuropathy-optic-atrophy-neurodegenerative-syndrome
https://rarediseases.info.nih.gov/diseases/21904/infantile-onset-axonal-motor-and-sensory-neuropathy-optic-atrophy-neurodegenerative-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21905/clear-cell-sarcoma-of-kidney
https://rarediseases.info.nih.gov/diseases/21905/clear-cell-sarcoma-of-kidney/diagnosis
https://rarediseases.info.nih.gov/diseases/21906/intellectual-disability-muscle-weakness-short-stature-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/21906/intellectual-disability-muscle-weakness-short-stature-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2191/complement-component-5-deficiency
https://rarediseases.info.nih.gov/diseases/2191/complement-component-5-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/21918/corpus-callosum-agenesis-macrocephaly-hypertelorism-syndrome
https://rarediseases.info.nih.gov/diseases/21918/corpus-callosum-agenesis-macrocephaly-hypertelorism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2192/congenital-lethal-erythroderma
https://rarediseases.info.nih.gov/diseases/2192/congenital-lethal-erythroderma/diagnosis
https://rarediseases.info.nih.gov/diseases/21942/childhood-onset-progressive-contractures-limb-girdle-weakness-muscle-dystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/21942/childhood-onset-progressive-contractures-limb-girdle-weakness-muscle-dystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21944/tubulinopathy-associated-dysgyria
https://rarediseases.info.nih.gov/diseases/21944/tubulinopathy-associated-dysgyria/diagnosis
https://rarediseases.info.nih.gov/diseases/21945/cryptogenic-multifocal-ulcerous-stenosing-enteritis
https://rarediseases.info.nih.gov/diseases/21945/cryptogenic-multifocal-ulcerous-stenosing-enteritis/diagnosis
https://rarediseases.info.nih.gov/diseases/21946/chronic-enteropathy-associated-with-slco2a1-gene
https://rarediseases.info.nih.gov/diseases/21946/chronic-enteropathy-associated-with-slco2a1-gene/diagnosis
https://rarediseases.info.nih.gov/diseases/21949/autosomal-dominant-distal-axonal-motor-neuropathy-myofibrillar-myopathy-syndrome
https://rarediseases.info.nih.gov/diseases/21949/autosomal-dominant-distal-axonal-motor-neuropathy-myofibrillar-myopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2195/thickened-earlobes-conductive-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/2195/thickened-earlobes-conductive-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21953/autosomal-dominant-preaxial-polydactyly-upperback-hypertrichosis-syndrome
https://rarediseases.info.nih.gov/diseases/21953/autosomal-dominant-preaxial-polydactyly-upperback-hypertrichosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21956/congenital-generalized-hypercontractile-muscle-stiffness-syndrome
https://rarediseases.info.nih.gov/diseases/21956/congenital-generalized-hypercontractile-muscle-stiffness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21966/primary-condylar-hyperplasia
https://rarediseases.info.nih.gov/diseases/21966/primary-condylar-hyperplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2197/esthesioneuroblastoma
https://rarediseases.info.nih.gov/diseases/2197/esthesioneuroblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/21976/caroli-syndrome
https://rarediseases.info.nih.gov/diseases/21976/caroli-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21978/lethal-hydranencephaly-diaphragmatic-hernia-syndrome
https://rarediseases.info.nih.gov/diseases/21978/lethal-hydranencephaly-diaphragmatic-hernia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy
https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/21983/isolated-neonatal-sclerosing-cholangitis
https://rarediseases.info.nih.gov/diseases/21983/isolated-neonatal-sclerosing-cholangitis/diagnosis
https://rarediseases.info.nih.gov/diseases/21990/x-linked-keloid-scarring-reduced-joint-mobility-increased-optic-cup-to-disc-ratio-syndrome
https://rarediseases.info.nih.gov/diseases/21990/x-linked-keloid-scarring-reduced-joint-mobility-increased-optic-cup-to-disc-ratio-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21993/16p121p123-triplication-syndrome
https://rarediseases.info.nih.gov/diseases/21993/16p121p123-triplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/21994/emilin-1-related-connective-tissue-disease
https://rarediseases.info.nih.gov/diseases/21994/emilin-1-related-connective-tissue-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/21999/autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-dgat2-mutation
https://rarediseases.info.nih.gov/diseases/21999/autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-dgat2-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/22/bjrnstad-syndrome
https://rarediseases.info.nih.gov/diseases/22/bjrnstad-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/220/peripartum-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/220/peripartum-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/22001/six2-related-frontonasal-dysplasia
https://rarediseases.info.nih.gov/diseases/22001/six2-related-frontonasal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/22009/9q333q3411-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/22009/9q333q3411-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22010/congenital-labioscrotal-agenesis-cerebellar-malformation-corneal-dystrophy-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/22010/congenital-labioscrotal-agenesis-cerebellar-malformation-corneal-dystrophy-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22012/kyphoscoliosis-lateral-tongue-atrophy-hereditary-spastic-paraplegia-syndrome
https://rarediseases.info.nih.gov/diseases/22012/kyphoscoliosis-lateral-tongue-atrophy-hereditary-spastic-paraplegia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22016/epidermolytic-nevus
https://rarediseases.info.nih.gov/diseases/22016/epidermolytic-nevus/diagnosis
https://rarediseases.info.nih.gov/diseases/2202/exostoses-anetodermia-brachydactyly-type-e-syndrome
https://rarediseases.info.nih.gov/diseases/2202/exostoses-anetodermia-brachydactyly-type-e-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22029/hyaline-fibromatosis-syndrome
https://rarediseases.info.nih.gov/diseases/22029/hyaline-fibromatosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22031/lrp5-related-primary-osteoporosis
https://rarediseases.info.nih.gov/diseases/22031/lrp5-related-primary-osteoporosis/diagnosis
https://rarediseases.info.nih.gov/diseases/22032/overgrowth-syndrome-with-2q37-translocation
https://rarediseases.info.nih.gov/diseases/22032/overgrowth-syndrome-with-2q37-translocation/diagnosis
https://rarediseases.info.nih.gov/diseases/22035/mybpc1-related-autosomal-recessive-non-lethal-arthrogryposis-multiplex-congenita-syndrome
https://rarediseases.info.nih.gov/diseases/22035/mybpc1-related-autosomal-recessive-non-lethal-arthrogryposis-multiplex-congenita-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22036/congenital-syphilis
https://rarediseases.info.nih.gov/diseases/22036/congenital-syphilis/diagnosis
https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-i
https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/22043/witteveen-kolk-syndrome
https://rarediseases.info.nih.gov/diseases/22043/witteveen-kolk-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22047/metopic-ridging-ptosis-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/22047/metopic-ridging-ptosis-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22048/4q25-proximal-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/22048/4q25-proximal-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-ii
https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/22050/3-methylglutaconic-aciduria-type-8
https://rarediseases.info.nih.gov/diseases/22050/3-methylglutaconic-aciduria-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/2206/exostoses-multiple-type-iii
https://rarediseases.info.nih.gov/diseases/2206/exostoses-multiple-type-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/22068/cleft-lip-and-palate-craniofacial-dysmorphism-congenital-heart-defect-hearing-loss-syndrome
https://rarediseases.info.nih.gov/diseases/22068/cleft-lip-and-palate-craniofacial-dysmorphism-congenital-heart-defect-hearing-loss-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22069/oral-facial-digital-syndrome-with-short-stature-and-brachymesophalangy
https://rarediseases.info.nih.gov/diseases/22069/oral-facial-digital-syndrome-with-short-stature-and-brachymesophalangy/diagnosis
https://rarediseases.info.nih.gov/diseases/2207/exstrophy-epispadias-complex
https://rarediseases.info.nih.gov/diseases/2207/exstrophy-epispadias-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/22070/skeletal-dysplasia-t-cell-immunodeficiency-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/22070/skeletal-dysplasia-t-cell-immunodeficiency-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22071/congenital-progressive-bone-marrow-failure-b-cell-immunodeficiency-skeletal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/22071/congenital-progressive-bone-marrow-failure-b-cell-immunodeficiency-skeletal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22074/autosomal-recessive-epidermolytic-ichthyosis
https://rarediseases.info.nih.gov/diseases/22074/autosomal-recessive-epidermolytic-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/22075/congenital-cerebellar-ataxia-due-to-rnu12-mutation
https://rarediseases.info.nih.gov/diseases/22075/congenital-cerebellar-ataxia-due-to-rnu12-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/22076/congenital-brachyesophagus-intrathoracic-stomach-vertebral-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/22076/congenital-brachyesophagus-intrathoracic-stomach-vertebral-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/221/dilated-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/221/dilated-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly-syndrome
https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22142/frontonasal-dysplasia-bifid-nose-upper-limb-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/22142/frontonasal-dysplasia-bifid-nose-upper-limb-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22143/autosomal-recessive-axonal-charcot-marie-tooth-disease-due-to-copper-metabolism-defect
https://rarediseases.info.nih.gov/diseases/22143/autosomal-recessive-axonal-charcot-marie-tooth-disease-due-to-copper-metabolism-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/22144/congenital-cataract-severe-neonatal-hepatopathy-global-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/22144/congenital-cataract-severe-neonatal-hepatopathy-global-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22146/lama5-related-multisystemic-syndrome
https://rarediseases.info.nih.gov/diseases/22146/lama5-related-multisystemic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2216/eyebrow-duplication-syndactyly-syndrome
https://rarediseases.info.nih.gov/diseases/2216/eyebrow-duplication-syndactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22192/encephalopathy-due-to-mitochondrial-and-peroxisomal-fission-defect
https://rarediseases.info.nih.gov/diseases/22192/encephalopathy-due-to-mitochondrial-and-peroxisomal-fission-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/22193/diaphragmatic-hernia-short-bowel-asplenia-syndrome
https://rarediseases.info.nih.gov/diseases/22193/diaphragmatic-hernia-short-bowel-asplenia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22194/hereditary-angioedema-with-c1inh-deficiency
https://rarediseases.info.nih.gov/diseases/22194/hereditary-angioedema-with-c1inh-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/22197/acute-bilirubin-encephalopathy
https://rarediseases.info.nih.gov/diseases/22197/acute-bilirubin-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/22198/chronic-bilirubin-encephalopathy
https://rarediseases.info.nih.gov/diseases/22198/chronic-bilirubin-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/22202/17q242-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/22202/17q242-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22204/immune-dysregulation-inflammatory-bowel-disease-arthritis-recurrent-infections-lymphopenia-syndrome
https://rarediseases.info.nih.gov/diseases/22204/immune-dysregulation-inflammatory-bowel-disease-arthritis-recurrent-infections-lymphopenia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22205/inflammatory-bowel-disease-recurrent-sinopulmonary-infections-syndrome
https://rarediseases.info.nih.gov/diseases/22205/inflammatory-bowel-disease-recurrent-sinopulmonary-infections-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22206/dermoid-or-epidermoid-cyst-of-the-central-nervous-system
https://rarediseases.info.nih.gov/diseases/22206/dermoid-or-epidermoid-cyst-of-the-central-nervous-system/diagnosis
https://rarediseases.info.nih.gov/diseases/2221/facial-dysmorphism-anorexia-cachexia-eye-and-skin-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/2221/facial-dysmorphism-anorexia-cachexia-eye-and-skin-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22211/lamb-shaffer-syndrome
https://rarediseases.info.nih.gov/diseases/22211/lamb-shaffer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22212/9q2113-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/22212/9q2113-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22214/spondylodysplastic-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/22214/spondylodysplastic-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22216/kyphoscoliotic-ehlers-danlos-syndrome-due-to-lysyl-hydroxylase-1-deficiency
https://rarediseases.info.nih.gov/diseases/22216/kyphoscoliotic-ehlers-danlos-syndrome-due-to-lysyl-hydroxylase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/22218/congenital-axonal-neuropathy-with-encephalopathy
https://rarediseases.info.nih.gov/diseases/22218/congenital-axonal-neuropathy-with-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/2222/facial-dysmorphism-macrocephaly-myopia-dandy-walker-malformation-syndrome
https://rarediseases.info.nih.gov/diseases/2222/facial-dysmorphism-macrocephaly-myopia-dandy-walker-malformation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22231/optic-atrophy-ataxia-peripheral-neuropathy-global-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/22231/optic-atrophy-ataxia-peripheral-neuropathy-global-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22232/syngap1-related-developmental-and-epileptic-encephalopathy
https://rarediseases.info.nih.gov/diseases/22232/syngap1-related-developmental-and-epileptic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/22246/early-onset-calcifying-leukoencephalopathy-skeletal-dysplasia
https://rarediseases.info.nih.gov/diseases/22246/early-onset-calcifying-leukoencephalopathy-skeletal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/22247/spastic-ataxia-dysarthria-due-to-glutaminase-deficiency
https://rarediseases.info.nih.gov/diseases/22247/spastic-ataxia-dysarthria-due-to-glutaminase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/22262/syndromic-congenital-sodium-diarrhea
https://rarediseases.info.nih.gov/diseases/22262/syndromic-congenital-sodium-diarrhea/diagnosis
https://rarediseases.info.nih.gov/diseases/22273/cebpe-associated-autoinflammation-immunodeficiency-neutrophil-dysfunction-syndrome
https://rarediseases.info.nih.gov/diseases/22273/cebpe-associated-autoinflammation-immunodeficiency-neutrophil-dysfunction-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22274/congenital-autosomal-recessive-small-platelet-thrombocytopenia
https://rarediseases.info.nih.gov/diseases/22274/congenital-autosomal-recessive-small-platelet-thrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/22275/resistance-to-thyroid-hormone-due-to-a-mutation-in-thyroid-hormone-receptor-alpha
https://rarediseases.info.nih.gov/diseases/22275/resistance-to-thyroid-hormone-due-to-a-mutation-in-thyroid-hormone-receptor-alpha/diagnosis
https://rarediseases.info.nih.gov/diseases/2228/facio-thoraco-genital-syndrome
https://rarediseases.info.nih.gov/diseases/2228/facio-thoraco-genital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2229/lethal-faciocardiomelic-dysplasia
https://rarediseases.info.nih.gov/diseases/2229/lethal-faciocardiomelic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/22299/gjc2-related-late-onset-primary-lymphedema
https://rarediseases.info.nih.gov/diseases/22299/gjc2-related-late-onset-primary-lymphedema/diagnosis
https://rarediseases.info.nih.gov/diseases/223/vestibular-schwannoma
https://rarediseases.info.nih.gov/diseases/223/vestibular-schwannoma/diagnosis
https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome
https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22300/warts-immunodeficiency-lymphedema-anogenital-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/22300/warts-immunodeficiency-lymphedema-anogenital-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22301/piezo1-related-generalized-lymphatic-dysplasia-with-non-immune-hydrops-fetalis
https://rarediseases.info.nih.gov/diseases/22301/piezo1-related-generalized-lymphatic-dysplasia-with-non-immune-hydrops-fetalis/diagnosis
https://rarediseases.info.nih.gov/diseases/22302/ephb4-related-lymphatic-related-hydrops-fetalis
https://rarediseases.info.nih.gov/diseases/22302/ephb4-related-lymphatic-related-hydrops-fetalis/diagnosis
https://rarediseases.info.nih.gov/diseases/22305/multiple-mitochondrial-dysfunctions-syndrome-type-5
https://rarediseases.info.nih.gov/diseases/22305/multiple-mitochondrial-dysfunctions-syndrome-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/22306/celsr1-related-late-onset-primary-lymphedema
https://rarediseases.info.nih.gov/diseases/22306/celsr1-related-late-onset-primary-lymphedema/diagnosis
https://rarediseases.info.nih.gov/diseases/22307/congenital-primary-lymphedema-of-gordon
https://rarediseases.info.nih.gov/diseases/22307/congenital-primary-lymphedema-of-gordon/diagnosis
https://rarediseases.info.nih.gov/diseases/22313/infantile-onset-pulmonary-alveolar-proteinosis-hypogammaglobulinemia
https://rarediseases.info.nih.gov/diseases/22313/infantile-onset-pulmonary-alveolar-proteinosis-hypogammaglobulinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/22314/donson-related-microcephaly-short-stature-limb-abnormalities-spectrum
https://rarediseases.info.nih.gov/diseases/22314/donson-related-microcephaly-short-stature-limb-abnormalities-spectrum/diagnosis
https://rarediseases.info.nih.gov/diseases/22320/cathepsin-a-related-arteriopathy-strokes-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/22320/cathepsin-a-related-arteriopathy-strokes-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/22326/satb2-associated-syndrome
https://rarediseases.info.nih.gov/diseases/22326/satb2-associated-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22358/linear-hypopigmentation-and-craniofacial-asymmetry-with-acral-ocular-and-brain-anomalies
https://rarediseases.info.nih.gov/diseases/22358/linear-hypopigmentation-and-craniofacial-asymmetry-with-acral-ocular-and-brain-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/22359/dystonia-28
https://rarediseases.info.nih.gov/diseases/22359/dystonia-28/diagnosis
https://rarediseases.info.nih.gov/diseases/22367/phip-related-behavioral-problems-intellectual-disability-obesity-dysmorphic-features-syndrome
https://rarediseases.info.nih.gov/diseases/22367/phip-related-behavioral-problems-intellectual-disability-obesity-dysmorphic-features-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2237/congenital-factor-v-deficiency
https://rarediseases.info.nih.gov/diseases/2237/congenital-factor-v-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/22370/traf7-associated-heart-defect-digital-anomalies-facial-dysmorphism-motor-and-speech-delay-syndrome
https://rarediseases.info.nih.gov/diseases/22370/traf7-associated-heart-defect-digital-anomalies-facial-dysmorphism-motor-and-speech-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2238/congenital-factor-vii-deficiency
https://rarediseases.info.nih.gov/diseases/2238/congenital-factor-vii-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/22388/localized-dystrophic-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/22388/localized-dystrophic-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome
https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22416/nrxn1-related-severe-neurodevelopmental-disorder-motor-stereotypies-chronic-constipation-sleep-wake-cycle-disturbance
https://rarediseases.info.nih.gov/diseases/22416/nrxn1-related-severe-neurodevelopmental-disorder-motor-stereotypies-chronic-constipation-sleep-wake-cycle-disturbance/diagnosis
https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot
https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot/diagnosis
https://rarediseases.info.nih.gov/diseases/22458/hereditary-persistence-of-fetal-hemoglobin-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/22458/hereditary-persistence-of-fetal-hemoglobin-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2249/familial-thoracic-aortic-aneurysm-and-aortic-dissection
https://rarediseases.info.nih.gov/diseases/2249/familial-thoracic-aortic-aneurysm-and-aortic-dissection/diagnosis
https://rarediseases.info.nih.gov/diseases/225/radial-hemimelia
https://rarediseases.info.nih.gov/diseases/225/radial-hemimelia/diagnosis
https://rarediseases.info.nih.gov/diseases/2250/band-heterotopia
https://rarediseases.info.nih.gov/diseases/2250/band-heterotopia/diagnosis
https://rarediseases.info.nih.gov/diseases/2252/non-acquired-combined-pituitary-hormone-deficiency
https://rarediseases.info.nih.gov/diseases/2252/non-acquired-combined-pituitary-hormone-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia
https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia/diagnosis
https://rarediseases.info.nih.gov/diseases/2256/polydactyly-of-an-index-finger
https://rarediseases.info.nih.gov/diseases/2256/polydactyly-of-an-index-finger/diagnosis
https://rarediseases.info.nih.gov/diseases/2257/autosomal-dominant-epilepsy-with-auditory-features
https://rarediseases.info.nih.gov/diseases/2257/autosomal-dominant-epilepsy-with-auditory-features/diagnosis
https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly
https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/22588/deafness-autosomal-recessive-9
https://rarediseases.info.nih.gov/diseases/22588/deafness-autosomal-recessive-9/diagnosis
https://rarediseases.info.nih.gov/diseases/2259/familial-supernumerary-nipples
https://rarediseases.info.nih.gov/diseases/2259/familial-supernumerary-nipples/diagnosis
https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome
https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2263/familial-ventricular-tachycardia
https://rarediseases.info.nih.gov/diseases/2263/familial-ventricular-tachycardia/diagnosis
https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome
https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/22699/intellectual-developmental-disorder-x-linked-1
https://rarediseases.info.nih.gov/diseases/22699/intellectual-developmental-disorder-x-linked-1/diagnosis
https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome
https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2276/posterior-fusion-of-lumbosacral-vertebrae-blepharoptosis-syndrome
https://rarediseases.info.nih.gov/diseases/2276/posterior-fusion-of-lumbosacral-vertebrae-blepharoptosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2279/atherosclerosis-deafness-diabetes-epilepsy-nephropathy-syndrome
https://rarediseases.info.nih.gov/diseases/2279/atherosclerosis-deafness-diabetes-epilepsy-nephropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2285/gollop-wolfgang-complex
https://rarediseases.info.nih.gov/diseases/2285/gollop-wolfgang-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/2286/femur-fibula-ulna-complex
https://rarediseases.info.nih.gov/diseases/2286/femur-fibula-ulna-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/2287/ataxia-photosensitivity-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/2287/ataxia-photosensitivity-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/229/gmez-lpez-hernndez-syndrome
https://rarediseases.info.nih.gov/diseases/229/gmez-lpez-hernndez-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked
https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked/diagnosis
https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia
https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/23/blepharophimosis-ptosis-epicanthus-inversus-syndrome
https://rarediseases.info.nih.gov/diseases/23/blepharophimosis-ptosis-epicanthus-inversus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/230/microcephaly-deafness-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/230/microcephaly-deafness-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome
https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome
https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome
https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome
https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/231/cach-syndrome
https://rarediseases.info.nih.gov/diseases/231/cach-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2313/thalidomide-embryopathy
https://rarediseases.info.nih.gov/diseases/2313/thalidomide-embryopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney
https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney/diagnosis
https://rarediseases.info.nih.gov/diseases/2320/congenital-fibrinogen-deficiency
https://rarediseases.info.nih.gov/diseases/2320/congenital-fibrinogen-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis
https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/2322/birt-hogg-dub-syndrome
https://rarediseases.info.nih.gov/diseases/2322/birt-hogg-dub-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-hypertrichosis-syndrome
https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-hypertrichosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2327/fibrosarcoma
https://rarediseases.info.nih.gov/diseases/2327/fibrosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/2331/fibular-aplasia-ectrodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/2331/fibular-aplasia-ectrodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia-syndrome
https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2339/agel-amyloidosis
https://rarediseases.info.nih.gov/diseases/2339/agel-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/234/d-glyceric-aciduria
https://rarediseases.info.nih.gov/diseases/234/d-glyceric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/2342/spastic-paraplegia-nephritis-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/2342/spastic-paraplegia-nephritis-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2344/paraplegia-intellectual-disability-hyperkeratosis-syndrome
https://rarediseases.info.nih.gov/diseases/2344/paraplegia-intellectual-disability-hyperkeratosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome
https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome
https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome
https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2355/ichthyosis-follicular
https://rarediseases.info.nih.gov/diseases/2355/ichthyosis-follicular/diagnosis
https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma
https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/236/hydrocephalus-blue-sclerae-nephropathy-syndrome
https://rarediseases.info.nih.gov/diseases/236/hydrocephalus-blue-sclerae-nephropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning
https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning/diagnosis
https://rarediseases.info.nih.gov/diseases/2362/cardiospondylocarpofacial-syndrome
https://rarediseases.info.nih.gov/diseases/2362/cardiospondylocarpofacial-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2365/fowler-urethral-sphincter-dysfunction-syndrome
https://rarediseases.info.nih.gov/diseases/2365/fowler-urethral-sphincter-dysfunction-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome
https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome
https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome
https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2378/fraxe-intellectual-disability
https://rarediseases.info.nih.gov/diseases/2378/fraxe-intellectual-disability/diagnosis
https://rarediseases.info.nih.gov/diseases/238/odontomatosis-aortae-esophagus-stenosis-syndrome
https://rarediseases.info.nih.gov/diseases/238/odontomatosis-aortae-esophagus-stenosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2380/osteochondrosis-of-the-metatarsal-bone
https://rarediseases.info.nih.gov/diseases/2380/osteochondrosis-of-the-metatarsal-bone/diagnosis
https://rarediseases.info.nih.gov/diseases/2381/odontotrichomelic-syndrome
https://rarediseases.info.nih.gov/diseases/2381/odontotrichomelic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2384/14q22q23-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/2384/14q22q23-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome
https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia
https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2392/frontonasal-dysplasia
https://rarediseases.info.nih.gov/diseases/2392/frontonasal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic
https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic/diagnosis
https://rarediseases.info.nih.gov/diseases/2397/diaphragmatic-defect-limb-deficiency-skull-defect-syndrome
https://rarediseases.info.nih.gov/diseases/2397/diaphragmatic-defect-limb-deficiency-skull-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2400/fructose-16-bisphosphatase-deficiency
https://rarediseases.info.nih.gov/diseases/2400/fructose-16-bisphosphatase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2408/upper-limb-mesomelic-dysplasia
https://rarediseases.info.nih.gov/diseases/2408/upper-limb-mesomelic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome
https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/241/scalp-defects-postaxial-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/241/scalp-defects-postaxial-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome
https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome
https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-diabetes-mellitus-syndrome
https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-diabetes-mellitus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2418/furuncular-myiasis
https://rarediseases.info.nih.gov/diseases/2418/furuncular-myiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors
https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors/diagnosis
https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome
https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency
https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2424/galactosemia
https://rarediseases.info.nih.gov/diseases/2424/galactosemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2427/growth-delay-hydrocephaly-lung-hypoplasia-syndrome
https://rarediseases.info.nih.gov/diseases/2427/growth-delay-hydrocephaly-lung-hypoplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2428/cystathioninuria
https://rarediseases.info.nih.gov/diseases/2428/cystathioninuria/diagnosis
https://rarediseases.info.nih.gov/diseases/2429/gamma-sarcoglycan-related-limb-girdle-muscular-dystrophy-r5
https://rarediseases.info.nih.gov/diseases/2429/gamma-sarcoglycan-related-limb-girdle-muscular-dystrophy-r5/diagnosis
https://rarediseases.info.nih.gov/diseases/243/trigonocephaly-short-stature-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/243/trigonocephaly-short-stature-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma
https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma/diagnosis
https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3
https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/2432/x-linked-alport-syndrome-diffuse-leiomyomatosis
https://rarediseases.info.nih.gov/diseases/2432/x-linked-alport-syndrome-diffuse-leiomyomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2436/mntrier-disease
https://rarediseases.info.nih.gov/diseases/2436/mntrier-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/2437/gastroenteropancreatic-neuroendocrine-neoplasm
https://rarediseases.info.nih.gov/diseases/2437/gastroenteropancreatic-neuroendocrine-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome
https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2441/gaucher-disease-type-1
https://rarediseases.info.nih.gov/diseases/2441/gaucher-disease-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/2442/gaucher-disease-type-2
https://rarediseases.info.nih.gov/diseases/2442/gaucher-disease-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/2443/gaucher-disease-type-3
https://rarediseases.info.nih.gov/diseases/2443/gaucher-disease-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome
https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2449/geleophysic-dysplasia
https://rarediseases.info.nih.gov/diseases/2449/geleophysic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome
https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2452/glaucoma-ectopia-lentis-microspherophakia-stiff-joints-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/2452/glaucoma-ectopia-lentis-microspherophakia-stiff-joints-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2454/holoprosencephaly-craniosynostosis-syndrome
https://rarediseases.info.nih.gov/diseases/2454/holoprosencephaly-craniosynostosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism
https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism/diagnosis
https://rarediseases.info.nih.gov/diseases/2459/genital-dwarfism-turner-type
https://rarediseases.info.nih.gov/diseases/2459/genital-dwarfism-turner-type/diagnosis
https://rarediseases.info.nih.gov/diseases/246/schisis-association
https://rarediseases.info.nih.gov/diseases/246/schisis-association/diagnosis
https://rarediseases.info.nih.gov/diseases/2460/genitopalatocardiac-syndrome
https://rarediseases.info.nih.gov/diseases/2460/genitopalatocardiac-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2462/german-syndrome
https://rarediseases.info.nih.gov/diseases/2462/german-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2469/large-congenital-melanocytic-nevus
https://rarediseases.info.nih.gov/diseases/2469/large-congenital-melanocytic-nevus/diagnosis
https://rarediseases.info.nih.gov/diseases/247/scarf-syndrome
https://rarediseases.info.nih.gov/diseases/247/scarf-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2470/bernard-soulier-syndrome
https://rarediseases.info.nih.gov/diseases/2470/bernard-soulier-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2474/fibromatosis-gingival-2
https://rarediseases.info.nih.gov/diseases/2474/fibromatosis-gingival-2/diagnosis
https://rarediseases.info.nih.gov/diseases/2475/fibromatosis-gingival-4
https://rarediseases.info.nih.gov/diseases/2475/fibromatosis-gingival-4/diagnosis
https://rarediseases.info.nih.gov/diseases/2478/glanzmann-thrombasthenia
https://rarediseases.info.nih.gov/diseases/2478/glanzmann-thrombasthenia/diagnosis
https://rarediseases.info.nih.gov/diseases/248/cataract-deafness-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/248/cataract-deafness-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia
https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia/diagnosis
https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea-syndrome
https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c
https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c/diagnosis
https://rarediseases.info.nih.gov/diseases/2485/congenital-glaucoma
https://rarediseases.info.nih.gov/diseases/2485/congenital-glaucoma/diagnosis
https://rarediseases.info.nih.gov/diseases/2486/pediatric-onset-glaucoma-of-genetic-origin
https://rarediseases.info.nih.gov/diseases/2486/pediatric-onset-glaucoma-of-genetic-origin/diagnosis
https://rarediseases.info.nih.gov/diseases/2487/glaucoma-hereditary-adult-type-1a
https://rarediseases.info.nih.gov/diseases/2487/glaucoma-hereditary-adult-type-1a/diagnosis
https://rarediseases.info.nih.gov/diseases/2488/glaucoma-hereditary-juvenile-type-1b
https://rarediseases.info.nih.gov/diseases/2488/glaucoma-hereditary-juvenile-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/249/craniodiaphyseal-dysplasia-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/249/craniodiaphyseal-dysplasia-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b
https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b/diagnosis
https://rarediseases.info.nih.gov/diseases/2491/glioblastoma
https://rarediseases.info.nih.gov/diseases/2491/glioblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/2492/hypotrichosis-lymphedema-telangiectasia-renal-defect-syndrome
https://rarediseases.info.nih.gov/diseases/2492/hypotrichosis-lymphedema-telangiectasia-renal-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2496/glucagonoma
https://rarediseases.info.nih.gov/diseases/2496/glucagonoma/diagnosis
https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency
https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2499/generalized-glucocorticoid-resistance-syndrome
https://rarediseases.info.nih.gov/diseases/2499/generalized-glucocorticoid-resistance-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/250/schwartz-jampel-syndrome
https://rarediseases.info.nih.gov/diseases/250/schwartz-jampel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency
https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2502/glucosephosphate-isomerase-deficiency
https://rarediseases.info.nih.gov/diseases/2502/glucosephosphate-isomerase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2503/glucosidase-acid-14-alpha-deficiency
https://rarediseases.info.nih.gov/diseases/2503/glucosidase-acid-14-alpha-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2513/glycogen-storage-disease-due-to-hepatic-glycogen-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/2513/glycogen-storage-disease-due-to-hepatic-glycogen-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2515/glycogen-storage-disease-due-to-glucose-6-phosphatase-deficiency-type-ib
https://rarediseases.info.nih.gov/diseases/2515/glycogen-storage-disease-due-to-glucose-6-phosphatase-deficiency-type-ib/diagnosis
https://rarediseases.info.nih.gov/diseases/2520/glycogen-storage-disease-due-to-glycogen-branching-enzyme-deficiency
https://rarediseases.info.nih.gov/diseases/2520/glycogen-storage-disease-due-to-glycogen-branching-enzyme-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2521/sandhoff-disease
https://rarediseases.info.nih.gov/diseases/2521/sandhoff-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/2522/gm2-gangliosidosis-b-b1-ab-variant
https://rarediseases.info.nih.gov/diseases/2522/gm2-gangliosidosis-b-b1-ab-variant/diagnosis
https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome
https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome
https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis
https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed
https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed/diagnosis
https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type
https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2541/xy-type-gonadal-dysgenesis-associated-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/2541/xy-type-gonadal-dysgenesis-associated-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2542/perrault-syndrome
https://rarediseases.info.nih.gov/diseases/2542/perrault-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis
https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis/diagnosis
https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome
https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2551/anti-glomerular-basement-membrane-disease
https://rarediseases.info.nih.gov/diseases/2551/anti-glomerular-basement-membrane-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome
https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2557/cystic-hamartoma-of-lung-and-kidney
https://rarediseases.info.nih.gov/diseases/2557/cystic-hamartoma-of-lung-and-kidney/diagnosis
https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome
https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome
https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/2568/deafness-small-bowel-diverticulosis-neuropathy-syndrome
https://rarediseases.info.nih.gov/diseases/2568/deafness-small-bowel-diverticulosis-neuropathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/257/intellectual-disability-balding-patella-luxation-acromicria-syndrome
https://rarediseases.info.nih.gov/diseases/257/intellectual-disability-balding-patella-luxation-acromicria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome
https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2574/growth-retardation-hydrocephaly-lung-hypoplasia
https://rarediseases.info.nih.gov/diseases/2574/growth-retardation-hydrocephaly-lung-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome
https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency
https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1
https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1/diagnosis
https://rarediseases.info.nih.gov/diseases/258/radial-hypoplasia-triphalangeal-thumbs-hypospadias-maxillary-diastema-syndrome
https://rarediseases.info.nih.gov/diseases/258/radial-hypoplasia-triphalangeal-thumbs-hypospadias-maxillary-diastema-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2580/x-linked-corneal-dermoid
https://rarediseases.info.nih.gov/diseases/2580/x-linked-corneal-dermoid/diagnosis
https://rarediseases.info.nih.gov/diseases/2586/hall-riggs-syndrome
https://rarediseases.info.nih.gov/diseases/2586/hall-riggs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2589/digital-extensor-muscle-aplasia-polyneuropathy
https://rarediseases.info.nih.gov/diseases/2589/digital-extensor-muscle-aplasia-polyneuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/259/nephrogenic-diabetes-insipidus-intracranial-calcification-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/259/nephrogenic-diabetes-insipidus-intracranial-calcification-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2593/emery-nelson-syndrome
https://rarediseases.info.nih.gov/diseases/2593/emery-nelson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2594/hand-foot-genital-syndrome
https://rarediseases.info.nih.gov/diseases/2594/hand-foot-genital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2597/extensor-tendons-of-finger-anomalies
https://rarediseases.info.nih.gov/diseases/2597/extensor-tendons-of-finger-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/2598/parana-hard-skin-syndrome
https://rarediseases.info.nih.gov/diseases/2598/parana-hard-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2599/walker-warburg-syndrome
https://rarediseases.info.nih.gov/diseases/2599/walker-warburg-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome
https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2600/early-onset-cerebellar-ataxia-with-retained-tendon-reflexes
https://rarediseases.info.nih.gov/diseases/2600/early-onset-cerebellar-ataxia-with-retained-tendon-reflexes/diagnosis
https://rarediseases.info.nih.gov/diseases/2601/harrod-syndrome
https://rarediseases.info.nih.gov/diseases/2601/harrod-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome
https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2605/short-stature-craniofacial-anomalies-genital-hypoplasia-syndrome
https://rarediseases.info.nih.gov/diseases/2605/short-stature-craniofacial-anomalies-genital-hypoplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2610/progressive-familial-heart-block-type-ib
https://rarediseases.info.nih.gov/diseases/2610/progressive-familial-heart-block-type-ib/diagnosis
https://rarediseases.info.nih.gov/diseases/2613/heart-defects-limb-shortening-syndrome
https://rarediseases.info.nih.gov/diseases/2613/heart-defects-limb-shortening-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2614/heart-hand-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/2614/heart-hand-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/262/narp-syndrome
https://rarediseases.info.nih.gov/diseases/262/narp-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome
https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2621/trismus-pseudocamptodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/2621/trismus-pseudocamptodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2622/fatco-syndrome
https://rarediseases.info.nih.gov/diseases/2622/fatco-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2627/hemangiopericytoma-malignant
https://rarediseases.info.nih.gov/diseases/2627/hemangiopericytoma-malignant/diagnosis
https://rarediseases.info.nih.gov/diseases/2630/isolated-hemihyperplasia
https://rarediseases.info.nih.gov/diseases/2630/isolated-hemihyperplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2633/bencze-syndrome
https://rarediseases.info.nih.gov/diseases/2633/bencze-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly
https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome
https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease
https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/2642/lethal-hemolytic-anemia-genital-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/2642/lethal-hemolytic-anemia-genital-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2649/heparane-sulfamidase-deficiency
https://rarediseases.info.nih.gov/diseases/2649/heparane-sulfamidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome
https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2650/heparin-induced-thrombocytopenia
https://rarediseases.info.nih.gov/diseases/2650/heparin-induced-thrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma
https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma/diagnosis
https://rarediseases.info.nih.gov/diseases/2657/hepatoblastoma
https://rarediseases.info.nih.gov/diseases/2657/hepatoblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1
https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/2659/hereditary-methemoglobinemia
https://rarediseases.info.nih.gov/diseases/2659/hereditary-methemoglobinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia
https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia/diagnosis
https://rarediseases.info.nih.gov/diseases/2669/herpes-virus-antenatal-infection
https://rarediseases.info.nih.gov/diseases/2669/herpes-virus-antenatal-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/267/keipert-syndrome
https://rarediseases.info.nih.gov/diseases/267/keipert-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2671/herrmann-opitz-craniosynostosis
https://rarediseases.info.nih.gov/diseases/2671/herrmann-opitz-craniosynostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2672/hersh-podruch-weisskopk-syndrome
https://rarediseases.info.nih.gov/diseases/2672/hersh-podruch-weisskopk-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2682/hidrotic-ectodermal-dysplasia-christianson-fourie-type
https://rarediseases.info.nih.gov/diseases/2682/hidrotic-ectodermal-dysplasia-christianson-fourie-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2684/congenital-high-molecular-weight-kininogen-deficiency
https://rarediseases.info.nih.gov/diseases/2684/congenital-high-molecular-weight-kininogen-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome
https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2690/hip-dysplasia-beukes-type
https://rarediseases.info.nih.gov/diseases/2690/hip-dysplasia-beukes-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2695/hirschsprung-disease-ganglioneuroblastoma-syndrome
https://rarediseases.info.nih.gov/diseases/2695/hirschsprung-disease-ganglioneuroblastoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease
https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/270/nicolaides-baraitser-syndrome
https://rarediseases.info.nih.gov/diseases/270/nicolaides-baraitser-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2700/hirschsprung-disease-type-d-brachydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/2700/hirschsprung-disease-type-d-brachydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2703/hirschsprung-nail-hypoplasia-dysmorphism
https://rarediseases.info.nih.gov/diseases/2703/hirschsprung-nail-hypoplasia-dysmorphism/diagnosis
https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia
https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia/diagnosis
https://rarediseases.info.nih.gov/diseases/2708/histidinuria-renal-tubular-defect-syndrome
https://rarediseases.info.nih.gov/diseases/2708/histidinuria-renal-tubular-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2712/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/2712/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2714/hodgkin-lymphoma
https://rarediseases.info.nih.gov/diseases/2714/hodgkin-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/272/vacterl-with-hydrocephalus
https://rarediseases.info.nih.gov/diseases/272/vacterl-with-hydrocephalus/diagnosis
https://rarediseases.info.nih.gov/diseases/2720/holoacardius-amorphus
https://rarediseases.info.nih.gov/diseases/2720/holoacardius-amorphus/diagnosis
https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency
https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2725/hartsfield-syndrome
https://rarediseases.info.nih.gov/diseases/2725/hartsfield-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2727/holoprosencephaly-radial-heart-renal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/2727/holoprosencephaly-radial-heart-renal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2728/holzgreve-syndrome
https://rarediseases.info.nih.gov/diseases/2728/holzgreve-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/273/wrinkly-skin-syndrome
https://rarediseases.info.nih.gov/diseases/273/wrinkly-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2730/homocarnosinosis
https://rarediseases.info.nih.gov/diseases/2730/homocarnosinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2733/homocystinuria-due-to-defect-in-methylation-cbl-g
https://rarediseases.info.nih.gov/diseases/2733/homocystinuria-due-to-defect-in-methylation-cbl-g/diagnosis
https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-methylene-tetrahydrofolate-reductase-deficiency
https://rarediseases.info.nih.gov/diseases/2734/homocystinuria-due-to-methylene-tetrahydrofolate-reductase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2736/hordnes-engebretsen-knudtson-syndrome
https://rarediseases.info.nih.gov/diseases/2736/hordnes-engebretsen-knudtson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2737/horn-kolb-syndrome
https://rarediseases.info.nih.gov/diseases/2737/horn-kolb-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/274/x-linked-immunoneurologic-disorder
https://rarediseases.info.nih.gov/diseases/274/x-linked-immunoneurologic-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/2742/atrioventricular-defect-blepharophimosis-radial-and-anal-defect-syndrome
https://rarediseases.info.nih.gov/diseases/2742/atrioventricular-defect-blepharophimosis-radial-and-anal-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2748/humero-radial-synostosis
https://rarediseases.info.nih.gov/diseases/2748/humero-radial-synostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2749/humero-radio-ulnar-synostosis
https://rarediseases.info.nih.gov/diseases/2749/humero-radio-ulnar-synostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2750/humerus-trochlea-aplasia
https://rarediseases.info.nih.gov/diseases/2750/humerus-trochlea-aplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2754/hunter-mcalpine-syndrome
https://rarediseases.info.nih.gov/diseases/2754/hunter-mcalpine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2756/trigonocephaly-broad-thumbs-syndrome
https://rarediseases.info.nih.gov/diseases/2756/trigonocephaly-broad-thumbs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/276/hypogonadotropic-hypogonadism-12-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/276/hypogonadotropic-hypogonadism-12-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/2764/cystic-echinococcosis
https://rarediseases.info.nih.gov/diseases/2764/cystic-echinococcosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2765/x-linked-intellectual-disability-plagiocephaly-syndrome
https://rarediseases.info.nih.gov/diseases/2765/x-linked-intellectual-disability-plagiocephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/277/pilodental-dysplasia-refractive-errors-syndrome
https://rarediseases.info.nih.gov/diseases/277/pilodental-dysplasia-refractive-errors-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2775/hydrocephalus-obesity-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/2775/hydrocephalus-obesity-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2776/hydrocephalus-skeletal-anomalies
https://rarediseases.info.nih.gov/diseases/2776/hydrocephalus-skeletal-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/2783/hydrops-fetalis
https://rarediseases.info.nih.gov/diseases/2783/hydrops-fetalis/diagnosis
https://rarediseases.info.nih.gov/diseases/2786/hygroma-cervical
https://rarediseases.info.nih.gov/diseases/2786/hygroma-cervical/diagnosis
https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis
https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/2788/hyperimmunoglobulinemia-d-with-periodic-fever
https://rarediseases.info.nih.gov/diseases/2788/hyperimmunoglobulinemia-d-with-periodic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/2789/familial-hyperaldosteronism-type-ii
https://rarediseases.info.nih.gov/diseases/2789/familial-hyperaldosteronism-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/2790/familial-hyperaldosteronism-type-i
https://rarediseases.info.nih.gov/diseases/2790/familial-hyperaldosteronism-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/2791/transient-familial-neonatal-hyperbilirubinemia
https://rarediseases.info.nih.gov/diseases/2791/transient-familial-neonatal-hyperbilirubinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2793/dubin-johnson-syndrome
https://rarediseases.info.nih.gov/diseases/2793/dubin-johnson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2796/familial-hypocalciuric-hypercalcemia-type-1
https://rarediseases.info.nih.gov/diseases/2796/familial-hypocalciuric-hypercalcemia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome
https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/280/hidrotic-ectodermal-dysplasia-halal-type
https://rarediseases.info.nih.gov/diseases/280/hidrotic-ectodermal-dysplasia-halal-type/diagnosis
https://rarediseases.info.nih.gov/diseases/2800/hypercalcinuria-macular-coloboma
https://rarediseases.info.nih.gov/diseases/2800/hypercalcinuria-macular-coloboma/diagnosis
https://rarediseases.info.nih.gov/diseases/2804/hypereosinophilic-syndrome
https://rarediseases.info.nih.gov/diseases/2804/hypereosinophilic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2806/hereditary-hyperferritinemia-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/2806/hereditary-hyperferritinemia-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2807/isolated-glycerol-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/2807/isolated-glycerol-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2811/hypergonadotropic-ovarian-failure-familial-or-sporadic
https://rarediseases.info.nih.gov/diseases/2811/hypergonadotropic-ovarian-failure-familial-or-sporadic/diagnosis
https://rarediseases.info.nih.gov/diseases/2816/combined-immunodeficiency-due-to-dock8-deficiency
https://rarediseases.info.nih.gov/diseases/2816/combined-immunodeficiency-due-to-dock8-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2818/hyperinsulinism-due-to-glucokinase-deficiency
https://rarediseases.info.nih.gov/diseases/2818/hyperinsulinism-due-to-glucokinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2819/hyperinsulinism-due-to-glutamodehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/2819/hyperinsulinism-due-to-glutamodehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/282/lethal-osteosclerotic-bone-dysplasia
https://rarediseases.info.nih.gov/diseases/282/lethal-osteosclerotic-bone-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/2824/hyperkeratosis-lenticularis-perstans
https://rarediseases.info.nih.gov/diseases/2824/hyperkeratosis-lenticularis-perstans/diagnosis
https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma
https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia
https://rarediseases.info.nih.gov/diseases/2828/hyperlysinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2830/hyperornithinemia-hyperammonemia-homocitrullinuria-syndrome
https://rarediseases.info.nih.gov/diseases/2830/hyperornithinemia-hyperammonemia-homocitrullinuria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease
https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/2833/hyperostosis-corticalis-generalisata
https://rarediseases.info.nih.gov/diseases/2833/hyperostosis-corticalis-generalisata/diagnosis
https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1
https://rarediseases.info.nih.gov/diseases/2835/primary-hyperoxaluria-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2
https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/2838/neonatal-severe-primary-hyperparathyroidism
https://rarediseases.info.nih.gov/diseases/2838/neonatal-severe-primary-hyperparathyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/284/lymphedema-atrial-septal-defects-facial-changes-syndrome
https://rarediseases.info.nih.gov/diseases/284/lymphedema-atrial-septal-defects-facial-changes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2843/pterin-4-alpha-carbinolamine-dehydratase-deficiency
https://rarediseases.info.nih.gov/diseases/2843/pterin-4-alpha-carbinolamine-dehydratase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency
https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia-type-1
https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/2856/maternal-hyperthermia-induced-birth-defects
https://rarediseases.info.nih.gov/diseases/2856/maternal-hyperthermia-induced-birth-defects/diagnosis
https://rarediseases.info.nih.gov/diseases/2858/familial-hyperthyroidism-due-to-mutations-in-tsh-receptor
https://rarediseases.info.nih.gov/diseases/2858/familial-hyperthyroidism-due-to-mutations-in-tsh-receptor/diagnosis
https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis
https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2864/acquired-hypertrichosis-lanuginosa
https://rarediseases.info.nih.gov/diseases/2864/acquired-hypertrichosis-lanuginosa/diagnosis
https://rarediseases.info.nih.gov/diseases/2865/hypertrichosis-lanuginosa-congenita
https://rarediseases.info.nih.gov/diseases/2865/hypertrichosis-lanuginosa-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/287/hypertelorism-hypospadias-polysyndactyly-syndrome
https://rarediseases.info.nih.gov/diseases/287/hypertelorism-hypospadias-polysyndactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia
https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2876/hypobetalipoproteinemia-familial-1
https://rarediseases.info.nih.gov/diseases/2876/hypobetalipoproteinemia-familial-1/diagnosis
https://rarediseases.info.nih.gov/diseases/2877/autosomal-dominant-hypocalcemia
https://rarediseases.info.nih.gov/diseases/2877/autosomal-dominant-hypocalcemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2878/familial-hypocalciuric-hypercalcemia-type-3
https://rarediseases.info.nih.gov/diseases/2878/familial-hypocalciuric-hypercalcemia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome
https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis
https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/2883/hypodermyasis
https://rarediseases.info.nih.gov/diseases/2883/hypodermyasis/diagnosis
https://rarediseases.info.nih.gov/diseases/2887/familial-hypofibrinogenemia
https://rarediseases.info.nih.gov/diseases/2887/familial-hypofibrinogenemia/diagnosis
https://rarediseases.info.nih.gov/diseases/2889/hypoglycemia-with-deficiency-of-glycogen-synthetase-in-the-liver
https://rarediseases.info.nih.gov/diseases/2889/hypoglycemia-with-deficiency-of-glycogen-synthetase-in-the-liver/diagnosis
https://rarediseases.info.nih.gov/diseases/2895/hypogonadism-primary-partial-alopecia
https://rarediseases.info.nih.gov/diseases/2895/hypogonadism-primary-partial-alopecia/diagnosis
https://rarediseases.info.nih.gov/diseases/2897/hypogonadotropic-hypogonadism-7-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/2897/hypogonadotropic-hypogonadism-7-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/29/charge-syndrome
https://rarediseases.info.nih.gov/diseases/29/charge-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/290/hallermann-streiff-like-syndrome
https://rarediseases.info.nih.gov/diseases/290/hallermann-streiff-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2906/primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis-without-severe-ocular-involvement
https://rarediseases.info.nih.gov/diseases/2906/primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis-without-severe-ocular-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis
https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2908/mllerian-duct-anomalies-limb-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/2908/mllerian-duct-anomalies-limb-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2910/familial-isolated-hypoparathyroidism
https://rarediseases.info.nih.gov/diseases/2910/familial-isolated-hypoparathyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/2911/hypoparathyroidism-sensorineural-deafness-renal-disease-syndrome
https://rarediseases.info.nih.gov/diseases/2911/hypoparathyroidism-sensorineural-deafness-renal-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/292/ichthyosis-alopecia-eclabion-ectropion-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/292/ichthyosis-alopecia-eclabion-ectropion-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome
https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2926/congenital-factor-ii-deficiency
https://rarediseases.info.nih.gov/diseases/2926/congenital-factor-ii-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2928/hypospadias-intellectual-disability-goldblatt-type-syndrome
https://rarediseases.info.nih.gov/diseases/2928/hypospadias-intellectual-disability-goldblatt-type-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2930/schilbach-rott-syndrome
https://rarediseases.info.nih.gov/diseases/2930/schilbach-rott-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas
https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas/diagnosis
https://rarediseases.info.nih.gov/diseases/2938/hypothyroidism-due-to-iodide-transport-defect
https://rarediseases.info.nih.gov/diseases/2938/hypothyroidism-due-to-iodide-transport-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/2943/hypoxanthine-guanine-phosphoribosyltransferase-deficiency
https://rarediseases.info.nih.gov/diseases/2943/hypoxanthine-guanine-phosphoribosyltransferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2945/icf-syndrome
https://rarediseases.info.nih.gov/diseases/2945/icf-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2946/keratitis-ichthyosis-deafness-syndrome-autosomal-recessive
https://rarediseases.info.nih.gov/diseases/2946/keratitis-ichthyosis-deafness-syndrome-autosomal-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/2952/ichthyosis-follicularis-alopecia-photophobia-syndrome
https://rarediseases.info.nih.gov/diseases/2952/ichthyosis-follicularis-alopecia-photophobia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2954/ichthyosis-hystrix-of-curth-macklin
https://rarediseases.info.nih.gov/diseases/2954/ichthyosis-hystrix-of-curth-macklin/diagnosis
https://rarediseases.info.nih.gov/diseases/296/short-tarsus-absence-of-lower-eyelashes-syndrome
https://rarediseases.info.nih.gov/diseases/296/short-tarsus-absence-of-lower-eyelashes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2960/ichthyosis-oral-and-digital-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/2960/ichthyosis-oral-and-digital-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2966/superficial-epidermolytic-ichthyosis
https://rarediseases.info.nih.gov/diseases/2966/superficial-epidermolytic-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/2967/ichthyosis-linearis-circumflexa
https://rarediseases.info.nih.gov/diseases/2967/ichthyosis-linearis-circumflexa/diagnosis
https://rarediseases.info.nih.gov/diseases/2978/anterior-segment-dysgenesis-3
https://rarediseases.info.nih.gov/diseases/2978/anterior-segment-dysgenesis-3/diagnosis
https://rarediseases.info.nih.gov/diseases/298/hypergonadotropic-hypogonadism-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/298/hypergonadotropic-hypogonadism-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2981/ciliary-dyskinesia-with-defective-radial-spokes
https://rarediseases.info.nih.gov/diseases/2981/ciliary-dyskinesia-with-defective-radial-spokes/diagnosis
https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia
https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia/diagnosis
https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable
https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable/diagnosis
https://rarediseases.info.nih.gov/diseases/2988/short-limb-skeletal-dysplasia-with-severe-combined-immunodeficiency
https://rarediseases.info.nih.gov/diseases/2988/short-limb-skeletal-dysplasia-with-severe-combined-immunodeficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/2989/imperforate-oropharynx-costovertebral-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/2989/imperforate-oropharynx-costovertebral-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/299/late-onset-localized-junctional-epidermolysis-bullosa-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/299/late-onset-localized-junctional-epidermolysis-bullosa-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/2992/hypomelanosis-of-ito
https://rarediseases.info.nih.gov/diseases/2992/hypomelanosis-of-ito/diagnosis
https://rarediseases.info.nih.gov/diseases/2995/early-onset-progressive-encephalopathy-with-migrant-continuous-myoclonus
https://rarediseases.info.nih.gov/diseases/2995/early-onset-progressive-encephalopathy-with-migrant-continuous-myoclonus/diagnosis
https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis
https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome
https://rarediseases.info.nih.gov/diseases/3/ablepharon-macrostomia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs-syndrome
https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3005/infundibulopelvic-dysgenesis
https://rarediseases.info.nih.gov/diseases/3005/infundibulopelvic-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/3006/hereditary-sensory-and-autonomic-neuropathy-type-4
https://rarediseases.info.nih.gov/diseases/3006/hereditary-sensory-and-autonomic-neuropathy-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/3007/mosaic-variegated-aneuploidy-syndrome
https://rarediseases.info.nih.gov/diseases/3007/mosaic-variegated-aneuploidy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3008/insulin-resistance-syndrome-type-a
https://rarediseases.info.nih.gov/diseases/3008/insulin-resistance-syndrome-type-a/diagnosis
https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-syndrome-type-b
https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-syndrome-type-b/diagnosis
https://rarediseases.info.nih.gov/diseases/301/generalized-resistance-to-thyroid-hormone
https://rarediseases.info.nih.gov/diseases/301/generalized-resistance-to-thyroid-hormone/diagnosis
https://rarediseases.info.nih.gov/diseases/3010/insulinoma
https://rarediseases.info.nih.gov/diseases/3010/insulinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-absence
https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-absence/diagnosis
https://rarediseases.info.nih.gov/diseases/3013/multiple-intestinal-atresia
https://rarediseases.info.nih.gov/diseases/3013/multiple-intestinal-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked
https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked/diagnosis
https://rarediseases.info.nih.gov/diseases/302/kostmann-syndrome
https://rarediseases.info.nih.gov/diseases/302/kostmann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3020/cerebral-arteriovenous-malformation
https://rarediseases.info.nih.gov/diseases/3020/cerebral-arteriovenous-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/3024/congenital-intrinsic-factor-deficiency
https://rarediseases.info.nih.gov/diseases/3024/congenital-intrinsic-factor-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3026/anterior-segment-dysgenesis-4
https://rarediseases.info.nih.gov/diseases/3026/anterior-segment-dysgenesis-4/diagnosis
https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus
https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus/diagnosis
https://rarediseases.info.nih.gov/diseases/3030/coxopodopatellar-syndrome
https://rarediseases.info.nih.gov/diseases/3030/coxopodopatellar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3033/isosporiasis
https://rarediseases.info.nih.gov/diseases/3033/isosporiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/304/blau-syndrome
https://rarediseases.info.nih.gov/diseases/304/blau-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3045/cln2-disease
https://rarediseases.info.nih.gov/diseases/3045/cln2-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type
https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3048/jervell-and-lange-nielsen-syndrome
https://rarediseases.info.nih.gov/diseases/3048/jervell-and-lange-nielsen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome
https://rarediseases.info.nih.gov/diseases/3049/jeune-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/305/conductive-deafness-ptosis-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/305/conductive-deafness-ptosis-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3051/aphalangy-hemivertebrae-urogenital-intestinal-dysgenesis-syndrome
https://rarediseases.info.nih.gov/diseases/3051/aphalangy-hemivertebrae-urogenital-intestinal-dysgenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3053/arthrogryposis-hyperkeratosis-syndrome-lethal-form
https://rarediseases.info.nih.gov/diseases/3053/arthrogryposis-hyperkeratosis-syndrome-lethal-form/diagnosis
https://rarediseases.info.nih.gov/diseases/3054/familial-articular-hypermobility-syndrome
https://rarediseases.info.nih.gov/diseases/3054/familial-articular-hypermobility-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3055/jones-hersh-yusk-syndrome
https://rarediseases.info.nih.gov/diseases/3055/jones-hersh-yusk-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3056/gingival-fibromatosis-progressive-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/3056/gingival-fibromatosis-progressive-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome
https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome
https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome
https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3062/jung-syndrome
https://rarediseases.info.nih.gov/diseases/3062/jung-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3065/juvenile-polyposis-syndrome
https://rarediseases.info.nih.gov/diseases/3065/juvenile-polyposis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3066/hypotrichosis-with-juvenile-macular-degeneration
https://rarediseases.info.nih.gov/diseases/3066/hypotrichosis-with-juvenile-macular-degeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis
https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis/diagnosis
https://rarediseases.info.nih.gov/diseases/307/jacobsen-syndrome
https://rarediseases.info.nih.gov/diseases/307/jacobsen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3070/hypogonadotropic-hypogonadism-2-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/3070/hypogonadotropic-hypogonadism-2-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/3071/hypogonadotropic-hypogonadism-1-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/3071/hypogonadotropic-hypogonadism-1-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/3073/hypogonadotropic-hypogonadism-3-with-or-without-anosmia
https://rarediseases.info.nih.gov/diseases/3073/hypogonadotropic-hypogonadism-3-with-or-without-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type
https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3075/acrocraniofacial-dysostosis
https://rarediseases.info.nih.gov/diseases/3075/acrocraniofacial-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma
https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma/diagnosis
https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome
https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3084/oculocerebrofacial-syndrome-kaufman-type
https://rarediseases.info.nih.gov/diseases/3084/oculocerebrofacial-syndrome-kaufman-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3086/pagod-syndrome
https://rarediseases.info.nih.gov/diseases/3086/pagod-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3089/autosomal-dominant-keratitis
https://rarediseases.info.nih.gov/diseases/3089/autosomal-dominant-keratitis/diagnosis
https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma
https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma/diagnosis
https://rarediseases.info.nih.gov/diseases/3092/keratoderma-hereditarium-mutilans
https://rarediseases.info.nih.gov/diseases/3092/keratoderma-hereditarium-mutilans/diagnosis
https://rarediseases.info.nih.gov/diseases/3094/palmoplantar-keratoderma-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/3094/palmoplantar-keratoderma-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3095/palmoplantar-keratoderma-spastic-paralysis-syndrome
https://rarediseases.info.nih.gov/diseases/3095/palmoplantar-keratoderma-spastic-paralysis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3096/transgrediens-et-progrediens-palmoplantar-keratoderma
https://rarediseases.info.nih.gov/diseases/3096/transgrediens-et-progrediens-palmoplantar-keratoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma
https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-cerebral-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-cerebral-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis
https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis/diagnosis
https://rarediseases.info.nih.gov/diseases/310/chime-syndrome
https://rarediseases.info.nih.gov/diseases/310/chime-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3100/papillon-lefvre-syndrome
https://rarediseases.info.nih.gov/diseases/3100/papillon-lefvre-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3102/palmoplantar-keratoderma-esophageal-carcinoma-syndrome
https://rarediseases.info.nih.gov/diseases/3102/palmoplantar-keratoderma-esophageal-carcinoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-1
https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2
https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi
https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi/diagnosis
https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome
https://rarediseases.info.nih.gov/diseases/3113/kid-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome
https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome
https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3118/hallux-varus-preaxial-polysyndactyly-syndrome
https://rarediseases.info.nih.gov/diseases/3118/hallux-varus-preaxial-polysyndactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/312/robinow-syndrome
https://rarediseases.info.nih.gov/diseases/312/robinow-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3122/angioosteohypertrophic-syndrome
https://rarediseases.info.nih.gov/diseases/3122/angioosteohypertrophic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3123/klumpke-paralysis
https://rarediseases.info.nih.gov/diseases/3123/klumpke-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/3124/lethal-kniest-like-dysplasia
https://rarediseases.info.nih.gov/diseases/3124/lethal-kniest-like-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3125/knuckle-pads-leukonychia-sensorineural-deafness-palmoplantar-hyperkeratosis-syndrome
https://rarediseases.info.nih.gov/diseases/3125/knuckle-pads-leukonychia-sensorineural-deafness-palmoplantar-hyperkeratosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-dunnigan-type
https://rarediseases.info.nih.gov/diseases/3126/familial-partial-lipodystrophy-dunnigan-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3128/amelocerebrohypohidrotic-syndrome
https://rarediseases.info.nih.gov/diseases/3128/amelocerebrohypohidrotic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3129/hereditary-hyperekplexia
https://rarediseases.info.nih.gov/diseases/3129/hereditary-hyperekplexia/diagnosis
https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome
https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/314/saccharopinuria
https://rarediseases.info.nih.gov/diseases/314/saccharopinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/3141/intellectual-disability-polydactyly-uncombable-hair-syndrome
https://rarediseases.info.nih.gov/diseases/3141/intellectual-disability-polydactyly-uncombable-hair-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome
https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3150/kuskokwim-syndrome
https://rarediseases.info.nih.gov/diseases/3150/kuskokwim-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome
https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3159/glycogen-storage-disease-due-to-lactate-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/3159/glycogen-storage-disease-due-to-lactate-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3160/glycogen-storage-disease-due-to-lactate-dehydrogenase-m-subunit-deficiency
https://rarediseases.info.nih.gov/diseases/3160/glycogen-storage-disease-due-to-lactate-dehydrogenase-m-subunit-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3161/glycogen-storage-disease-due-to-lactate-dehydrogenase-h-subunit-deficiency
https://rarediseases.info.nih.gov/diseases/3161/glycogen-storage-disease-due-to-lactate-dehydrogenase-h-subunit-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3163/fatal-infantile-lactic-acidosis-with-methylmalonic-aciduria
https://rarediseases.info.nih.gov/diseases/3163/fatal-infantile-lactic-acidosis-with-methylmalonic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome
https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/317/sacral-hemangiomas-multiple-congenital-abnormalities
https://rarediseases.info.nih.gov/diseases/317/sacral-hemangiomas-multiple-congenital-abnormalities/diagnosis
https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-congenital-autosomal-recessive-1
https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-congenital-autosomal-recessive-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-b-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-b-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/3181/lethal-larsen-like-syndrome
https://rarediseases.info.nih.gov/diseases/3181/lethal-larsen-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3188/laryngotracheoesophageal-cleft
https://rarediseases.info.nih.gov/diseases/3188/laryngotracheoesophageal-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/319/sacrococcygeal-teratoma
https://rarediseases.info.nih.gov/diseases/319/sacrococcygeal-teratoma/diagnosis
https://rarediseases.info.nih.gov/diseases/3191/laryngocele
https://rarediseases.info.nih.gov/diseases/3191/laryngocele/diagnosis
https://rarediseases.info.nih.gov/diseases/3192/larynx-congenital-partial-atresia-of
https://rarediseases.info.nih.gov/diseases/3192/larynx-congenital-partial-atresia-of/diagnosis
https://rarediseases.info.nih.gov/diseases/3194/larynx-atresia
https://rarediseases.info.nih.gov/diseases/3194/larynx-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome
https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3196/retinal-cone-dystrophy-1
https://rarediseases.info.nih.gov/diseases/3196/retinal-cone-dystrophy-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3198/laterality-defects-dominant
https://rarediseases.info.nih.gov/diseases/3198/laterality-defects-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/320/fibulo-ulnar-hypoplasia-renal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/320/fibulo-ulnar-hypoplasia-renal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3203/early-onset-parkinsonism-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/3203/early-onset-parkinsonism-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/321/nail-patella-like-renal-disease
https://rarediseases.info.nih.gov/diseases/321/nail-patella-like-renal-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/3212/branchio-oculo-facial-syndrome
https://rarediseases.info.nih.gov/diseases/3212/branchio-oculo-facial-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3214/leg-absence-deformity-cataract
https://rarediseases.info.nih.gov/diseases/3214/leg-absence-deformity-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/3219/leiomyomatosis-of-esophagus-cataract-and-hematuria
https://rarediseases.info.nih.gov/diseases/3219/leiomyomatosis-of-esophagus-cataract-and-hematuria/diagnosis
https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome
https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism
https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism/diagnosis
https://rarediseases.info.nih.gov/diseases/3224/lri-weill-dyschondrosteosis
https://rarediseases.info.nih.gov/diseases/3224/lri-weill-dyschondrosteosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type
https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3227/lethal-congenital-contracture-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/3227/lethal-congenital-contracture-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease
https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/3230/metachromatic-leukodystrophy
https://rarediseases.info.nih.gov/diseases/3230/metachromatic-leukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/3231/ravine-syndrome
https://rarediseases.info.nih.gov/diseases/3231/ravine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma-syndrome
https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3236/ophthalmoplegia-intellectual-disability-lingua-scrotalis-syndrome
https://rarediseases.info.nih.gov/diseases/3236/ophthalmoplegia-intellectual-disability-lingua-scrotalis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/324/hypogonadotropic-hypogonadism-frontoparietal-alopecia-syndrome
https://rarediseases.info.nih.gov/diseases/324/hypogonadotropic-hypogonadism-frontoparietal-alopecia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3242/autosomal-dominant-popliteal-pterygium-syndrome
https://rarediseases.info.nih.gov/diseases/3242/autosomal-dominant-popliteal-pterygium-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia
https://rarediseases.info.nih.gov/diseases/3244/leydig-cell-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris
https://rarediseases.info.nih.gov/diseases/3247/lichen-planopilaris/diagnosis
https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome
https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3249/iida-kannari-syndrome
https://rarediseases.info.nih.gov/diseases/3249/iida-kannari-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/325/twin-to-twin-transfusion-syndrome
https://rarediseases.info.nih.gov/diseases/325/twin-to-twin-transfusion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex
https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/3252/distal-limb-deficiencies-micrognathia-syndrome
https://rarediseases.info.nih.gov/diseases/3252/distal-limb-deficiencies-micrognathia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3259/linear-verrucous-nevus-syndrome
https://rarediseases.info.nih.gov/diseases/3259/linear-verrucous-nevus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3262/neutral-lipid-storage-disease
https://rarediseases.info.nih.gov/diseases/3262/neutral-lipid-storage-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/3263/pyruvate-dehydrogenase-e3-deficiency
https://rarediseases.info.nih.gov/diseases/3263/pyruvate-dehydrogenase-e3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3268/lipoid-proteinosis
https://rarediseases.info.nih.gov/diseases/3268/lipoid-proteinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3277/cobblestone-lissencephaly
https://rarediseases.info.nih.gov/diseases/3277/cobblestone-lissencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/328/wandering-spleen
https://rarediseases.info.nih.gov/diseases/328/wandering-spleen/diagnosis
https://rarediseases.info.nih.gov/diseases/3283/loiasis
https://rarediseases.info.nih.gov/diseases/3283/loiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/3284/romano-ward-syndrome
https://rarediseases.info.nih.gov/diseases/3284/romano-ward-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2
https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3
https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3/diagnosis
https://rarediseases.info.nih.gov/diseases/3287/loose-anagen-syndrome
https://rarediseases.info.nih.gov/diseases/3287/loose-anagen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/329/wells-syndrome
https://rarediseases.info.nih.gov/diseases/329/wells-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3295/oculocerebrorenal-syndrome-of-lowe
https://rarediseases.info.nih.gov/diseases/3295/oculocerebrorenal-syndrome-of-lowe/diagnosis
https://rarediseases.info.nih.gov/diseases/3299/lower-mesodermal-defects-sequence
https://rarediseases.info.nih.gov/diseases/3299/lower-mesodermal-defects-sequence/diagnosis
https://rarediseases.info.nih.gov/diseases/330/wiedemann-rautenstrauch-syndrome
https://rarediseases.info.nih.gov/diseases/330/wiedemann-rautenstrauch-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3300/lowry-maclean-syndrome
https://rarediseases.info.nih.gov/diseases/3300/lowry-maclean-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3303/cystic-fibrosis-gastritis-megaloblastic-anemia-syndrome
https://rarediseases.info.nih.gov/diseases/3303/cystic-fibrosis-gastritis-megaloblastic-anemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3304/lucey-driscoll-syndrome
https://rarediseases.info.nih.gov/diseases/3304/lucey-driscoll-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3307/lujan-fryns-syndrome
https://rarediseases.info.nih.gov/diseases/3307/lujan-fryns-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome
https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3314/cerebellar-ataxia-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/3314/cerebellar-ataxia-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3318/hennekam-syndrome
https://rarediseases.info.nih.gov/diseases/3318/hennekam-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis
https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/332/cutis-gyrata-acanthosis-nigricans-craniosynostosis-syndrome
https://rarediseases.info.nih.gov/diseases/332/cutis-gyrata-acanthosis-nigricans-craniosynostosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3321/lymphatic-filariasis
https://rarediseases.info.nih.gov/diseases/3321/lymphatic-filariasis/diagnosis
https://rarediseases.info.nih.gov/diseases/3324/meige-disease
https://rarediseases.info.nih.gov/diseases/3324/meige-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/3328/lymphatic-malformation-1
https://rarediseases.info.nih.gov/diseases/3328/lymphatic-malformation-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma
https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome
https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance
https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance/diagnosis
https://rarediseases.info.nih.gov/diseases/334/dyschromatosis-symmetrica-hereditaria
https://rarediseases.info.nih.gov/diseases/334/dyschromatosis-symmetrica-hereditaria/diagnosis
https://rarediseases.info.nih.gov/diseases/3342/macroglossia
https://rarediseases.info.nih.gov/diseases/3342/macroglossia/diagnosis
https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome
https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3347/hypo-and-hypermelanotic-cutaneous-macules-retarded-growth-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/3347/hypo-and-hypermelanotic-cutaneous-macules-retarded-growth-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3348/blepharophimosis-intellectual-disability-syndrome-ohdo-type
https://rarediseases.info.nih.gov/diseases/3348/blepharophimosis-intellectual-disability-syndrome-ohdo-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3350/autosomal-dominant-primary-hypomagnesemia-with-hypocalciuria
https://rarediseases.info.nih.gov/diseases/3350/autosomal-dominant-primary-hypomagnesemia-with-hypocalciuria/diagnosis
https://rarediseases.info.nih.gov/diseases/3356/male-pseudohermaphroditism-due-to-defective-lh-molecule
https://rarediseases.info.nih.gov/diseases/3356/male-pseudohermaphroditism-due-to-defective-lh-molecule/diagnosis
https://rarediseases.info.nih.gov/diseases/336/autosomal-recessive-spastic-paraplegia-type-23
https://rarediseases.info.nih.gov/diseases/336/autosomal-recessive-spastic-paraplegia-type-23/diagnosis
https://rarediseases.info.nih.gov/diseases/3360/malignant-germ-cell-tumor
https://rarediseases.info.nih.gov/diseases/3360/malignant-germ-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/3361/multiple-pterygium-malignant-hyperthermia-syndrome
https://rarediseases.info.nih.gov/diseases/3361/multiple-pterygium-malignant-hyperthermia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3371/malonic-aciduria
https://rarediseases.info.nih.gov/diseases/3371/malonic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/3373/dilated-cardiomyopathy-hypergonadotropic-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/3373/dilated-cardiomyopathy-hypergonadotropic-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy
https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/3378/lung-agenesis-heart-defect-thumb-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/3378/lung-agenesis-heart-defect-thumb-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/338/zerres-rietschel-majewski-syndrome
https://rarediseases.info.nih.gov/diseases/338/zerres-rietschel-majewski-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3382/van-den-ende-gupta-syndrome
https://rarediseases.info.nih.gov/diseases/3382/van-den-ende-gupta-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3388/marfanoid-habitus-autosomal-recessive-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/3388/marfanoid-habitus-autosomal-recessive-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3390/marie-unna-hereditary-hypotrichosis
https://rarediseases.info.nih.gov/diseases/3390/marie-unna-hereditary-hypotrichosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3395/oculotrichoanal-syndrome
https://rarediseases.info.nih.gov/diseases/3395/oculotrichoanal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3396/osteocraniostenosis
https://rarediseases.info.nih.gov/diseases/3396/osteocraniostenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3399/lethal-recessive-chondrodysplasia
https://rarediseases.info.nih.gov/diseases/3399/lethal-recessive-chondrodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3401/marfanoid-syndrome-de-silva-type
https://rarediseases.info.nih.gov/diseases/3401/marfanoid-syndrome-de-silva-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3406/cataract-intellectual-disability-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/3406/cataract-intellectual-disability-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3407/massa-casaer-ceulemans-syndrome
https://rarediseases.info.nih.gov/diseases/3407/massa-casaer-ceulemans-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3409/hennekam-beemer-syndrome
https://rarediseases.info.nih.gov/diseases/3409/hennekam-beemer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/341/young-syndrome
https://rarediseases.info.nih.gov/diseases/341/young-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3413/maternal-phenylketonuria
https://rarediseases.info.nih.gov/diseases/3413/maternal-phenylketonuria/diagnosis
https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome
https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3426/familial-scaphocephaly-syndrome-mcgillivray-type
https://rarediseases.info.nih.gov/diseases/3426/familial-scaphocephaly-syndrome-mcgillivray-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome
https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4
https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/3430/cleft-lippalate-intestinal-malrotation-cardiopathy-syndrome
https://rarediseases.info.nih.gov/diseases/3430/cleft-lippalate-intestinal-malrotation-cardiopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3432/meacham-syndrome
https://rarediseases.info.nih.gov/diseases/3432/meacham-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3436/meckel-syndrome
https://rarediseases.info.nih.gov/diseases/3436/meckel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3438/dysraphism-cleft-lippalate-limb-reduction-defects-syndrome
https://rarediseases.info.nih.gov/diseases/3438/dysraphism-cleft-lippalate-limb-reduction-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3439/pai-syndrome
https://rarediseases.info.nih.gov/diseases/3439/pai-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/344/holoprosencephaly-postaxial-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/344/holoprosencephaly-postaxial-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip
https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip/diagnosis
https://rarediseases.info.nih.gov/diseases/3443/familial-visceral-myopathy
https://rarediseases.info.nih.gov/diseases/3443/familial-visceral-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts
https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts/diagnosis
https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3449/delayed-speech-facial-asymmetry-strabismus-ear-lobe-creases-syndrome
https://rarediseases.info.nih.gov/diseases/3449/delayed-speech-facial-asymmetry-strabismus-ear-lobe-creases-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/345/x-linked-intellectual-disability-hypogonadism-ichthyosis-obesity-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/345/x-linked-intellectual-disability-hypogonadism-ichthyosis-obesity-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3450/mehta-lewis-patton-syndrome
https://rarediseases.info.nih.gov/diseases/3450/mehta-lewis-patton-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3451/primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis-with-severe-ocular-involvement
https://rarediseases.info.nih.gov/diseases/3451/primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis-with-severe-ocular-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/346/hoyeraal-hreidarsson-syndrome
https://rarediseases.info.nih.gov/diseases/346/hoyeraal-hreidarsson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3460/familial-melanoma
https://rarediseases.info.nih.gov/diseases/3460/familial-melanoma/diagnosis
https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome
https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/347/pancreatic-hypoplasia-diabetes-congenital-heart-disease-syndrome
https://rarediseases.info.nih.gov/diseases/347/pancreatic-hypoplasia-diabetes-congenital-heart-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele
https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele/diagnosis
https://rarediseases.info.nih.gov/diseases/348/yolk-sac-tumor
https://rarediseases.info.nih.gov/diseases/348/yolk-sac-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome
https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3482/severe-microbrachycephaly-intellectual-disability-athetoid-cerebral-palsy-syndrome
https://rarediseases.info.nih.gov/diseases/3482/severe-microbrachycephaly-intellectual-disability-athetoid-cerebral-palsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3485/intellectual-disability-buenos-aires-type
https://rarediseases.info.nih.gov/diseases/3485/intellectual-disability-buenos-aires-type/diagnosis
https://rarediseases.info.nih.gov/diseases/349/neuroaxonal-dystrophy-renal-tubular-acidosis
https://rarediseases.info.nih.gov/diseases/349/neuroaxonal-dystrophy-renal-tubular-acidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3491/hernndez-aguirre-negrete-syndrome
https://rarediseases.info.nih.gov/diseases/3491/hernndez-aguirre-negrete-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/35/tetrasomy-18p
https://rarediseases.info.nih.gov/diseases/35/tetrasomy-18p/diagnosis
https://rarediseases.info.nih.gov/diseases/350/skeletal-dysplasia-epilepsy-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/350/skeletal-dysplasia-epilepsy-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome
https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3506/x-linked-intellectual-disability-psychosis-macroorchidism-syndrome
https://rarediseases.info.nih.gov/diseases/3506/x-linked-intellectual-disability-psychosis-macroorchidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/351/dacryocystitis-osteopoikilosis-syndrome
https://rarediseases.info.nih.gov/diseases/351/dacryocystitis-osteopoikilosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3514/intellectual-disability-short-stature-hypertelorism-syndrome
https://rarediseases.info.nih.gov/diseases/3514/intellectual-disability-short-stature-hypertelorism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia
https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3520/x-linked-skeletal-dysplasia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/3520/x-linked-skeletal-dysplasia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3521/intellectual-disability-hypotonic-facies-syndrome-x-linked-1
https://rarediseases.info.nih.gov/diseases/3521/intellectual-disability-hypotonic-facies-syndrome-x-linked-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3523/intellectual-disability-spasticity-ectrodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/3523/intellectual-disability-spasticity-ectrodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3524/mietens-syndrome
https://rarediseases.info.nih.gov/diseases/3524/mietens-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome
https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3530/intellectual-disability-wolff-type
https://rarediseases.info.nih.gov/diseases/3530/intellectual-disability-wolff-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3531/monoamine-oxidase-a-deficiency
https://rarediseases.info.nih.gov/diseases/3531/monoamine-oxidase-a-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3537/atkin-flaitz-syndrome
https://rarediseases.info.nih.gov/diseases/3537/atkin-flaitz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/354/osteopenia-intellectual-disability-sparse-hair-syndrome
https://rarediseases.info.nih.gov/diseases/354/osteopenia-intellectual-disability-sparse-hair-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia
https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3554/mesomelic-dysplasia-nievergelt-type
https://rarediseases.info.nih.gov/diseases/3554/mesomelic-dysplasia-nievergelt-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3555/mesomelic-dwarfism-reinhardt-pfeiffer-type
https://rarediseases.info.nih.gov/diseases/3555/mesomelic-dwarfism-reinhardt-pfeiffer-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3556/mesomelic-dysplasia-skin-dimples
https://rarediseases.info.nih.gov/diseases/3556/mesomelic-dysplasia-skin-dimples/diagnosis
https://rarediseases.info.nih.gov/diseases/3559/syndactyly-type-8
https://rarediseases.info.nih.gov/diseases/3559/syndactyly-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis
https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia
https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3563/metaphyseal-chondrodysplasia-spahr-type
https://rarediseases.info.nih.gov/diseases/3563/metaphyseal-chondrodysplasia-spahr-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-intellectual-disability-conductive-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-intellectual-disability-conductive-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydacty-syndrome
https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydacty-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia
https://rarediseases.info.nih.gov/diseases/3571/metatropic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome
https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-type-cblg
https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-type-cblg/diagnosis
https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria
https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/358/w-syndrome
https://rarediseases.info.nih.gov/diseases/358/w-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3586/vitamin-b12-unresponsive-methylmalonic-acidemia
https://rarediseases.info.nih.gov/diseases/3586/vitamin-b12-unresponsive-methylmalonic-acidemia/diagnosis
https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria
https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/3589/multiple-benign-circumferential-skin-creases-on-limbs
https://rarediseases.info.nih.gov/diseases/3589/multiple-benign-circumferential-skin-creases-on-limbs/diagnosis
https://rarediseases.info.nih.gov/diseases/359/cranioectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/359/cranioectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip-syndrome
https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome
https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type
https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3603/isolated-congenital-microcephaly
https://rarediseases.info.nih.gov/diseases/3603/isolated-congenital-microcephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3605/autosomal-dominant-primary-microcephaly
https://rarediseases.info.nih.gov/diseases/3605/autosomal-dominant-primary-microcephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia-syndrome
https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3609/microcephaly-cardiomyopathy-syndrome
https://rarediseases.info.nih.gov/diseases/3609/microcephaly-cardiomyopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/361/acalvaria
https://rarediseases.info.nih.gov/diseases/361/acalvaria/diagnosis
https://rarediseases.info.nih.gov/diseases/3610/microcephaly-cervical-spine-fusion-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/3610/microcephaly-cervical-spine-fusion-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3611/microcephaly-chorioretinopathy-recessive-form
https://rarediseases.info.nih.gov/diseases/3611/microcephaly-chorioretinopathy-recessive-form/diagnosis
https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus-syndrome
https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3617/mikati-najjar-sahli-syndrome
https://rarediseases.info.nih.gov/diseases/3617/mikati-najjar-sahli-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3622/microcephaly-lymphedema-chorioretinopathy-syndrome
https://rarediseases.info.nih.gov/diseases/3622/microcephaly-lymphedema-chorioretinopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type
https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3628/microcephaly-micropenis-convulsions
https://rarediseases.info.nih.gov/diseases/3628/microcephaly-micropenis-convulsions/diagnosis
https://rarediseases.info.nih.gov/diseases/363/acatalasemia
https://rarediseases.info.nih.gov/diseases/363/acatalasemia/diagnosis
https://rarediseases.info.nih.gov/diseases/3630/microcephaly-nonsyndromal
https://rarediseases.info.nih.gov/diseases/3630/microcephaly-nonsyndromal/diagnosis
https://rarediseases.info.nih.gov/diseases/3635/congenital-microcoria
https://rarediseases.info.nih.gov/diseases/3635/congenital-microcoria/diagnosis
https://rarediseases.info.nih.gov/diseases/3637/microcornea-glaucoma-absent-frontal-sinuses-syndrome
https://rarediseases.info.nih.gov/diseases/3637/microcornea-glaucoma-absent-frontal-sinuses-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3638/microdontia-hypodontia-short-stature
https://rarediseases.info.nih.gov/diseases/3638/microdontia-hypodontia-short-stature/diagnosis
https://rarediseases.info.nih.gov/diseases/364/isolated-arrhinia
https://rarediseases.info.nih.gov/diseases/364/isolated-arrhinia/diagnosis
https://rarediseases.info.nih.gov/diseases/3640/microgastria-limb-reduction-defect-syndrome
https://rarediseases.info.nih.gov/diseases/3640/microgastria-limb-reduction-defect-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3643/autosomal-dominant-omodysplasia
https://rarediseases.info.nih.gov/diseases/3643/autosomal-dominant-omodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/3644/colobomatous-microphthalmia
https://rarediseases.info.nih.gov/diseases/3644/colobomatous-microphthalmia/diagnosis
https://rarediseases.info.nih.gov/diseases/3645/microphthalmia-with-brain-and-digit-anomalies
https://rarediseases.info.nih.gov/diseases/3645/microphthalmia-with-brain-and-digit-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency
https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3650/microphthalmia-microtia-fetal-akinesia-syndrome
https://rarediseases.info.nih.gov/diseases/3650/microphthalmia-microtia-fetal-akinesia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis
https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis/diagnosis
https://rarediseases.info.nih.gov/diseases/3653/oculoauriculovertebral-spectrum-with-radial-defects
https://rarediseases.info.nih.gov/diseases/3653/oculoauriculovertebral-spectrum-with-radial-defects/diagnosis
https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis
https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome
https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome
https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3668/miller-fisher-syndrome
https://rarediseases.info.nih.gov/diseases/3668/miller-fisher-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3669/miller-dieker-syndrome
https://rarediseases.info.nih.gov/diseases/3669/miller-dieker-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3671/mitochondrial-dna-associated-leigh-syndrome
https://rarediseases.info.nih.gov/diseases/3671/mitochondrial-dna-associated-leigh-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3672/non-spherocytic-hemolytic-anemia-due-to-hexokinase-deficiency
https://rarediseases.info.nih.gov/diseases/3672/non-spherocytic-hemolytic-anemia-due-to-hexokinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/368/laryngo-onycho-cutaneous-syndrome
https://rarediseases.info.nih.gov/diseases/368/laryngo-onycho-cutaneous-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3681/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-methylmalonic-aciduria
https://rarediseases.info.nih.gov/diseases/3681/mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-methylmalonic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-lactic-acidosis-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-lactic-acidosis-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency
https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3685/mitral-atresia
https://rarediseases.info.nih.gov/diseases/3685/mitral-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/3687/familial-mitral-valve-prolapse
https://rarediseases.info.nih.gov/diseases/3687/familial-mitral-valve-prolapse/diagnosis
https://rarediseases.info.nih.gov/diseases/3688/mitral-valve-prolapse-1
https://rarediseases.info.nih.gov/diseases/3688/mitral-valve-prolapse-1/diagnosis
https://rarediseases.info.nih.gov/diseases/369/xq21-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/369/xq21-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3690/melorheostosis-with-osteopoikilosis
https://rarediseases.info.nih.gov/diseases/3690/melorheostosis-with-osteopoikilosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3692/syndromic-microphthalmia-type-5
https://rarediseases.info.nih.gov/diseases/3692/syndromic-microphthalmia-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/3693/mmep-syndrome
https://rarediseases.info.nih.gov/diseases/3693/mmep-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3698/moebius-syndrome-axonal-neuropathy-hypogonadotropic-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/3698/moebius-syndrome-axonal-neuropathy-hypogonadotropic-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome
https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/37/partial-deletion-of-the-short-arm-of-chromosome-3
https://rarediseases.info.nih.gov/diseases/37/partial-deletion-of-the-short-arm-of-chromosome-3/diagnosis
https://rarediseases.info.nih.gov/diseases/370/cholestasis-lymphedema-syndrome
https://rarediseases.info.nih.gov/diseases/370/cholestasis-lymphedema-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3701/orofaciodigital-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/3701/orofaciodigital-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/3704/choroidal-atrophy-alopecia-syndrome
https://rarediseases.info.nih.gov/diseases/3704/choroidal-atrophy-alopecia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3705/sulfite-oxidase-deficiency-due-to-molybdenum-cofactor-deficiency
https://rarediseases.info.nih.gov/diseases/3705/sulfite-oxidase-deficiency-due-to-molybdenum-cofactor-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly
https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome
https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3711/distal-monosomy-10q
https://rarediseases.info.nih.gov/diseases/3711/distal-monosomy-10q/diagnosis
https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome
https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3722/chromosome-14q-deletion
https://rarediseases.info.nih.gov/diseases/3722/chromosome-14q-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/3726/mosaic-monosomy-18
https://rarediseases.info.nih.gov/diseases/3726/mosaic-monosomy-18/diagnosis
https://rarediseases.info.nih.gov/diseases/373/quinquaud-folliculitis-decalvans
https://rarediseases.info.nih.gov/diseases/373/quinquaud-folliculitis-decalvans/diagnosis
https://rarediseases.info.nih.gov/diseases/3730/chromosome-1p-deletion
https://rarediseases.info.nih.gov/diseases/3730/chromosome-1p-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/3738/1q41q42-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/3738/1q41q42-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/374/pectus-excavatum-macrocephaly-dysplastic-nails-syndrome
https://rarediseases.info.nih.gov/diseases/374/pectus-excavatum-macrocephaly-dysplastic-nails-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3744/chromosome-2q-deletion
https://rarediseases.info.nih.gov/diseases/3744/chromosome-2q-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/3746/2q24-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/3746/2q24-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/375/cleft-lippalate-ectodermal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/375/cleft-lippalate-ectodermal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3750/distal-monosomy-3p
https://rarediseases.info.nih.gov/diseases/3750/distal-monosomy-3p/diagnosis
https://rarediseases.info.nih.gov/diseases/376/acheiropodia
https://rarediseases.info.nih.gov/diseases/376/acheiropodia/diagnosis
https://rarediseases.info.nih.gov/diseases/3760/chromosome-6q-deletion
https://rarediseases.info.nih.gov/diseases/3760/chromosome-6q-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/3764/6q25-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/3764/6q25-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3765/familial-monosomy-7-syndrome
https://rarediseases.info.nih.gov/diseases/3765/familial-monosomy-7-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3768/chromosome-8p-deletion
https://rarediseases.info.nih.gov/diseases/3768/chromosome-8p-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/3769/8p231-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/3769/8p231-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/377/congenital-absencehypoplasia-of-fingers-excluding-thumb-unilateral
https://rarediseases.info.nih.gov/diseases/377/congenital-absencehypoplasia-of-fingers-excluding-thumb-unilateral/diagnosis
https://rarediseases.info.nih.gov/diseases/3770/chromosome-8q-deletion
https://rarediseases.info.nih.gov/diseases/3770/chromosome-8q-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/3773/monosomy-9p
https://rarediseases.info.nih.gov/diseases/3773/monosomy-9p/diagnosis
https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome
https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3785/mucopolysaccharidosis-type-4a
https://rarediseases.info.nih.gov/diseases/3785/mucopolysaccharidosis-type-4a/diagnosis
https://rarediseases.info.nih.gov/diseases/3786/mucopolysaccharidosis-type-4b
https://rarediseases.info.nih.gov/diseases/3786/mucopolysaccharidosis-type-4b/diagnosis
https://rarediseases.info.nih.gov/diseases/3787/vipoma
https://rarediseases.info.nih.gov/diseases/3787/vipoma/diagnosis
https://rarediseases.info.nih.gov/diseases/3788/lethal-intrauterine-growth-restriction-cortical-malformation-congenital-contractures-syndrome
https://rarediseases.info.nih.gov/diseases/3788/lethal-intrauterine-growth-restriction-cortical-malformation-congenital-contractures-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/379/renal-tubular-dysgenesis
https://rarediseases.info.nih.gov/diseases/379/renal-tubular-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/3791/peripheral-motor-neuropathy-dysautonomia-syndrome
https://rarediseases.info.nih.gov/diseases/3791/peripheral-motor-neuropathy-dysautonomia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3793/mounier-khn-syndrome
https://rarediseases.info.nih.gov/diseases/3793/mounier-khn-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3795/spastic-ataxia-corneal-dystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/3795/spastic-ataxia-corneal-dystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome
https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3807/mucopolysaccharidosis-type-3
https://rarediseases.info.nih.gov/diseases/3807/mucopolysaccharidosis-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/381/arachnodactyly-abnormal-ossification-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/381/arachnodactyly-abnormal-ossification-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3818/multicentric-carpo-tarsal-osteolysis-with-or-without-nephropathy
https://rarediseases.info.nih.gov/diseases/3818/multicentric-carpo-tarsal-osteolysis-with-or-without-nephropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/3824/multiple-carboxylase-deficiency
https://rarediseases.info.nih.gov/diseases/3824/multiple-carboxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1
https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/383/albers-schnberg-osteopetrosis
https://rarediseases.info.nih.gov/diseases/383/albers-schnberg-osteopetrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2
https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial
https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial/diagnosis
https://rarediseases.info.nih.gov/diseases/3834/lethal-multiple-pterygium-syndrome
https://rarediseases.info.nih.gov/diseases/3834/lethal-multiple-pterygium-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3836/multiple-synostoses-syndrome
https://rarediseases.info.nih.gov/diseases/3836/multiple-synostoses-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/384/adult-syndrome
https://rarediseases.info.nih.gov/diseases/384/adult-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3843/laminin-subunit-alpha-2-related-congenital-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/3843/laminin-subunit-alpha-2-related-congenital-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/3844/trim32-related-limb-girdle-muscular-dystrophy-r8
https://rarediseases.info.nih.gov/diseases/3844/trim32-related-limb-girdle-muscular-dystrophy-r8/diagnosis
https://rarediseases.info.nih.gov/diseases/385/zimmermann-laband-syndrome
https://rarediseases.info.nih.gov/diseases/385/zimmermann-laband-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3851/beta-sarcoglycan-related-limb-girdle-muscular-dystrophy-r4
https://rarediseases.info.nih.gov/diseases/3851/beta-sarcoglycan-related-limb-girdle-muscular-dystrophy-r4/diagnosis
https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis
https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome
https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3858/glycogen-storage-disease-due-to-muscle-phosphorylase-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/3858/glycogen-storage-disease-due-to-muscle-phosphorylase-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/386/tetraamelia-multiple-malformations-syndrome
https://rarediseases.info.nih.gov/diseases/386/tetraamelia-multiple-malformations-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3862/mycetoma
https://rarediseases.info.nih.gov/diseases/3862/mycetoma/diagnosis
https://rarediseases.info.nih.gov/diseases/3863/classic-mycosis-fungoides
https://rarediseases.info.nih.gov/diseases/3863/classic-mycosis-fungoides/diagnosis
https://rarediseases.info.nih.gov/diseases/3865/ataxia-pancytopenia-syndrome
https://rarediseases.info.nih.gov/diseases/3865/ataxia-pancytopenia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency
https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/387/combined-immunodeficiency-due-to-zap70-deficiency
https://rarediseases.info.nih.gov/diseases/387/combined-immunodeficiency-due-to-zap70-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3872/progressive-myoclonic-epilepsy-type-6
https://rarediseases.info.nih.gov/diseases/3872/progressive-myoclonic-epilepsy-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/3873/myoclonus-cerebellar-ataxia-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/3873/myoclonus-cerebellar-ataxia-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3875/spinal-muscular-atrophy-progressive-myoclonic-epilepsy-syndrome
https://rarediseases.info.nih.gov/diseases/3875/spinal-muscular-atrophy-progressive-myoclonic-epilepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3876/progressive-myoclonic-epilepsy-type-1
https://rarediseases.info.nih.gov/diseases/3876/progressive-myoclonic-epilepsy-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent
https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent/diagnosis
https://rarediseases.info.nih.gov/diseases/3881/myopathy-and-diabetes-mellitus
https://rarediseases.info.nih.gov/diseases/3881/myopathy-and-diabetes-mellitus/diagnosis
https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy
https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/3885/mitochondrial-myopathy-and-sideroblastic-anemia
https://rarediseases.info.nih.gov/diseases/3885/mitochondrial-myopathy-and-sideroblastic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome
https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy
https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy/diagnosis
https://rarediseases.info.nih.gov/diseases/3896/inclusion-body-myositis
https://rarediseases.info.nih.gov/diseases/3896/inclusion-body-myositis/diagnosis
https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome
https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/390/endosteal-hyperostosis-worth-type
https://rarediseases.info.nih.gov/diseases/390/endosteal-hyperostosis-worth-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3902/n-syndrome
https://rarediseases.info.nih.gov/diseases/3902/n-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3903/alpha-n-acetylgalactosaminidase-deficiency-type-3
https://rarediseases.info.nih.gov/diseases/3903/alpha-n-acetylgalactosaminidase-deficiency-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome
https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3908/isolated-complex-i-deficiency
https://rarediseases.info.nih.gov/diseases/3908/isolated-complex-i-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/3909/methemoglobin-reductase-deficiency
https://rarediseases.info.nih.gov/diseases/3909/methemoglobin-reductase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis
https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3912/naegeli-franceschetti-jadassohn-syndrome
https://rarediseases.info.nih.gov/diseases/3912/naegeli-franceschetti-jadassohn-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3916/proteasome-associated-autoinflammatory-syndrome-1
https://rarediseases.info.nih.gov/diseases/3916/proteasome-associated-autoinflammatory-syndrome-1/diagnosis
https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-ib
https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-ib/diagnosis
https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-iii
https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/3924/growth-hormone-insensitivity-syndrome
https://rarediseases.info.nih.gov/diseases/3924/growth-hormone-insensitivity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome
https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3928/neuronal-intestinal-pseudoobstruction
https://rarediseases.info.nih.gov/diseases/3928/neuronal-intestinal-pseudoobstruction/diagnosis
https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome
https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/393/tungiasis
https://rarediseases.info.nih.gov/diseases/393/tungiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/3931/rheumatoid-factor-negative-polyarticular-juvenile-idiopathic-arthritis
https://rarediseases.info.nih.gov/diseases/3931/rheumatoid-factor-negative-polyarticular-juvenile-idiopathic-arthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome
https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/394/radioulnar-synostosis-microcephaly-scoliosis-syndrome
https://rarediseases.info.nih.gov/diseases/394/radioulnar-synostosis-microcephaly-scoliosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-hyperparathyroidism-syndrome
https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-hyperparathyroidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3943/nephrosis-deafness-urinary-tract-digital-malformations-syndrome
https://rarediseases.info.nih.gov/diseases/3943/nephrosis-deafness-urinary-tract-digital-malformations-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3946/genetic-steroid-resistant-nephrotic-syndrome
https://rarediseases.info.nih.gov/diseases/3946/genetic-steroid-resistant-nephrotic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3947/congenital-isolated-hyperinsulinism
https://rarediseases.info.nih.gov/diseases/3947/congenital-isolated-hyperinsulinism/diagnosis
https://rarediseases.info.nih.gov/diseases/3949/neuhauser-eichner-opitz-syndrome
https://rarediseases.info.nih.gov/diseases/3949/neuhauser-eichner-opitz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/395/retinal-degeneration-nanophthalmos-glaucoma-syndrome
https://rarediseases.info.nih.gov/diseases/395/retinal-degeneration-nanophthalmos-glaucoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis
https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3955/amyotrophy-hereditary-neuralgic
https://rarediseases.info.nih.gov/diseases/3955/amyotrophy-hereditary-neuralgic/diagnosis
https://rarediseases.info.nih.gov/diseases/3956/choreoacanthocytosis
https://rarediseases.info.nih.gov/diseases/3956/choreoacanthocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/3957/infantile-neuroaxonal-dystrophy
https://rarediseases.info.nih.gov/diseases/3957/infantile-neuroaxonal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome
https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/396/tularemia
https://rarediseases.info.nih.gov/diseases/396/tularemia/diagnosis
https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma
https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma/diagnosis
https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome
https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3967/neurofibromatosis-type-6
https://rarediseases.info.nih.gov/diseases/3967/neurofibromatosis-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease
https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/3972/mitochondrial-dna-depletion-syndrome-6-hepatocerebral-type
https://rarediseases.info.nih.gov/diseases/3972/mitochondrial-dna-depletion-syndrome-6-hepatocerebral-type/diagnosis
https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d
https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d/diagnosis
https://rarediseases.info.nih.gov/diseases/3976/hereditary-sensory-and-autonomic-neuropathy-type-2
https://rarediseases.info.nih.gov/diseases/3976/hereditary-sensory-and-autonomic-neuropathy-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/3979/neutral-lipid-storage-disease-with-ichthyosis
https://rarediseases.info.nih.gov/diseases/3979/neutral-lipid-storage-disease-with-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome
https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3981/x-linked-severe-congenital-neutropenia
https://rarediseases.info.nih.gov/diseases/3981/x-linked-severe-congenital-neutropenia/diagnosis
https://rarediseases.info.nih.gov/diseases/3982/neutropenia-monocytopenia-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/3982/neutropenia-monocytopenia-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3986/familial-multiple-nevi-flammei
https://rarediseases.info.nih.gov/diseases/3986/familial-multiple-nevi-flammei/diagnosis
https://rarediseases.info.nih.gov/diseases/399/46xx-testicular-disorder-of-sex-development
https://rarediseases.info.nih.gov/diseases/399/46xx-testicular-disorder-of-sex-development/diagnosis
https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2
https://rarediseases.info.nih.gov/diseases/3992/niemann-pick-disease-type-c2/diagnosis
https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/3995/congenital-stationary-night-blindness
https://rarediseases.info.nih.gov/diseases/3995/congenital-stationary-night-blindness/diagnosis
https://rarediseases.info.nih.gov/diseases/3999/ectopia-lentis-chorioretinal-dystrophy-myopia-syndrome
https://rarediseases.info.nih.gov/diseases/3999/ectopia-lentis-chorioretinal-dystrophy-myopia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4/acanthocheilonemiasis
https://rarediseases.info.nih.gov/diseases/4/acanthocheilonemiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome
https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4001/noma
https://rarediseases.info.nih.gov/diseases/4001/noma/diagnosis
https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness
https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness/diagnosis
https://rarediseases.info.nih.gov/diseases/4010/progressive-epilepsy-intellectual-disability-syndrome-finnish-type
https://rarediseases.info.nih.gov/diseases/4010/progressive-epilepsy-intellectual-disability-syndrome-finnish-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4011/familial-lcat-deficiency
https://rarediseases.info.nih.gov/diseases/4011/familial-lcat-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4014/port-wine-nevi-mega-cisterna-magna-hydrocephalus-syndrome
https://rarediseases.info.nih.gov/diseases/4014/port-wine-nevi-mega-cisterna-magna-hydrocephalus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4017/occipital-horn-syndrome
https://rarediseases.info.nih.gov/diseases/4017/occipital-horn-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4018/primary-tethered-cord-syndrome
https://rarediseases.info.nih.gov/diseases/4018/primary-tethered-cord-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia
https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome
https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4034/oculocerebral-hypopigmentation-syndrome-preus-type
https://rarediseases.info.nih.gov/diseases/4034/oculocerebral-hypopigmentation-syndrome-preus-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4037/oculocutaneous-albinism-type-1
https://rarediseases.info.nih.gov/diseases/4037/oculocutaneous-albinism-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2
https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4039/oculocutaneous-albinism-type-3
https://rarediseases.info.nih.gov/diseases/4039/oculocutaneous-albinism-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome
https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4046/oculomaxillofacial-dysostosis
https://rarediseases.info.nih.gov/diseases/4046/oculomaxillofacial-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4047/arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/4047/arthrogryposis-oculomotor-limitation-electroretinal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4050/severe-oculo-renal-cerebellar-syndrome
https://rarediseases.info.nih.gov/diseases/4050/severe-oculo-renal-cerebellar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4051/odonto-onycho-dysplasia-alopecia-syndrome
https://rarediseases.info.nih.gov/diseases/4051/odonto-onycho-dysplasia-alopecia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia
https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4054/odonto-onycho-dermal-dysplasia
https://rarediseases.info.nih.gov/diseases/4054/odonto-onycho-dermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/406/foveal-hypoplasia-presenile-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/406/foveal-hypoplasia-presenile-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-type-8
https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-type-10
https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-type-10/diagnosis
https://rarediseases.info.nih.gov/diseases/4062/infantile-onset-spinocerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/4062/infantile-onset-spinocerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome
https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4065/postaxial-tetramelic-oligodactyly
https://rarediseases.info.nih.gov/diseases/4065/postaxial-tetramelic-oligodactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/4066/oligomeganephronia
https://rarediseases.info.nih.gov/diseases/4066/oligomeganephronia/diagnosis
https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome
https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype
https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype/diagnosis
https://rarediseases.info.nih.gov/diseases/4070/olivopontocerebellar-atrophy-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/4070/olivopontocerebellar-atrophy-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-type-1
https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4072/spinocerebellar-ataxia-type-2
https://rarediseases.info.nih.gov/diseases/4072/spinocerebellar-ataxia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4075/mutilating-palmoplantar-keratoderma-with-periorificial-keratotic-plaques
https://rarediseases.info.nih.gov/diseases/4075/mutilating-palmoplantar-keratoderma-with-periorificial-keratotic-plaques/diagnosis
https://rarediseases.info.nih.gov/diseases/4076/autosomal-recessive-omodysplasia
https://rarediseases.info.nih.gov/diseases/4076/autosomal-recessive-omodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4079/lethal-omphalocele-cleft-palate-syndrome
https://rarediseases.info.nih.gov/diseases/4079/lethal-omphalocele-cleft-palate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/408/short-stature-due-to-growth-hormone-qualitative-anomaly
https://rarediseases.info.nih.gov/diseases/408/short-stature-due-to-growth-hormone-qualitative-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/4080/cloacal-exstrophy
https://rarediseases.info.nih.gov/diseases/4080/cloacal-exstrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst
https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/4083/cooks-syndrome
https://rarediseases.info.nih.gov/diseases/4083/cooks-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4085/poikiloderma-with-neutropenia
https://rarediseases.info.nih.gov/diseases/4085/poikiloderma-with-neutropenia/diagnosis
https://rarediseases.info.nih.gov/diseases/409/pachygyria-intellectual-disability-epilepsy-syndrome
https://rarediseases.info.nih.gov/diseases/409/pachygyria-intellectual-disability-epilepsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia
https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome
https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma
https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma/diagnosis
https://rarediseases.info.nih.gov/diseases/411/sanjad-sakati-syndrome
https://rarediseases.info.nih.gov/diseases/411/sanjad-sakati-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4116/oromandibular-limb-hypogenesis-syndrome
https://rarediseases.info.nih.gov/diseases/4116/oromandibular-limb-hypogenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-type-11
https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-type-11/diagnosis
https://rarediseases.info.nih.gov/diseases/4119/x-linked-intellectual-disability-shashi-type
https://rarediseases.info.nih.gov/diseases/4119/x-linked-intellectual-disability-shashi-type/diagnosis
https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis
https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis/diagnosis
https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-type-5
https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/4121/orofaciodigital-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/4121/orofaciodigital-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4129/oslam-syndrome
https://rarediseases.info.nih.gov/diseases/4129/oslam-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica
https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica/diagnosis
https://rarediseases.info.nih.gov/diseases/4130/otospondylomegaepiphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/4130/otospondylomegaepiphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4131/thiemann-disease-familial-form
https://rarediseases.info.nih.gov/diseases/4131/thiemann-disease-familial-form/diagnosis
https://rarediseases.info.nih.gov/diseases/4133/familial-osteochondritis-dissecans
https://rarediseases.info.nih.gov/diseases/4133/familial-osteochondritis-dissecans/diagnosis
https://rarediseases.info.nih.gov/diseases/4136/familial-osteodysplasia-anderson-type
https://rarediseases.info.nih.gov/diseases/4136/familial-osteodysplasia-anderson-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4139/congenital-osteogenesis-imperfecta-microcephaly-cataracts-syndrome
https://rarediseases.info.nih.gov/diseases/4139/congenital-osteogenesis-imperfecta-microcephaly-cataracts-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/414/bamforth-lazarus-syndrome
https://rarediseases.info.nih.gov/diseases/414/bamforth-lazarus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4142/osteoglosphonic-dysplasia
https://rarediseases.info.nih.gov/diseases/4142/osteoglosphonic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4148/osteopathia-striata-cranial-sclerosis-syndrome
https://rarediseases.info.nih.gov/diseases/4148/osteopathia-striata-cranial-sclerosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome
https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4151/autosomal-dominant-osteopetrosis-type-1
https://rarediseases.info.nih.gov/diseases/4151/autosomal-dominant-osteopetrosis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5
https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5/diagnosis
https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-with-renal-tubular-acidosis
https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-with-renal-tubular-acidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4155/osteopetrosis-and-related-disorders
https://rarediseases.info.nih.gov/diseases/4155/osteopetrosis-and-related-disorders/diagnosis
https://rarediseases.info.nih.gov/diseases/4156/intermediate-osteopetrosis
https://rarediseases.info.nih.gov/diseases/4156/intermediate-osteopetrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2
https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome
https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4166/heart-defect-tongue-hamartoma-polysyndactyly-syndrome
https://rarediseases.info.nih.gov/diseases/4166/heart-defect-tongue-hamartoma-polysyndactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4168/otodental-syndrome
https://rarediseases.info.nih.gov/diseases/4168/otodental-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4169/otofaciocervical-syndrome
https://rarediseases.info.nih.gov/diseases/4169/otofaciocervical-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome
https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4176/benign-paroxysmal-tonic-upgaze-of-childhood-with-ataxia
https://rarediseases.info.nih.gov/diseases/4176/benign-paroxysmal-tonic-upgaze-of-childhood-with-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/418/pentosuria
https://rarediseases.info.nih.gov/diseases/418/pentosuria/diagnosis
https://rarediseases.info.nih.gov/diseases/4183/overhydrated-hereditary-stomatocytosis
https://rarediseases.info.nih.gov/diseases/4183/overhydrated-hereditary-stomatocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4189/epiphyseal-stippling-osteoclastic-hyperplasia-syndrome
https://rarediseases.info.nih.gov/diseases/4189/epiphyseal-stippling-osteoclastic-hyperplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4191/paget-disease-of-bone-familial
https://rarediseases.info.nih.gov/diseases/4191/paget-disease-of-bone-familial/diagnosis
https://rarediseases.info.nih.gov/diseases/4192/extramammary-paget-disease
https://rarediseases.info.nih.gov/diseases/4192/extramammary-paget-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/4195/pagon-stephan-syndrome
https://rarediseases.info.nih.gov/diseases/4195/pagon-stephan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4199/hydrocephaly-low-insertion-umbilicus-syndrome
https://rarediseases.info.nih.gov/diseases/4199/hydrocephaly-low-insertion-umbilicus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p
https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p/diagnosis
https://rarediseases.info.nih.gov/diseases/420/mismatch-repair-cancer-syndrome-1
https://rarediseases.info.nih.gov/diseases/420/mismatch-repair-cancer-syndrome-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4203/partial-pancreatic-agenesis
https://rarediseases.info.nih.gov/diseases/4203/partial-pancreatic-agenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/4204/adenoma-of-pancreas
https://rarediseases.info.nih.gov/diseases/4204/adenoma-of-pancreas/diagnosis
https://rarediseases.info.nih.gov/diseases/4206/familial-pancreatic-carcinoma
https://rarediseases.info.nih.gov/diseases/4206/familial-pancreatic-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma
https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4213/polyostotic-fibrous-dysplasia
https://rarediseases.info.nih.gov/diseases/4213/polyostotic-fibrous-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4214/papilloma-of-choroid-plexus
https://rarediseases.info.nih.gov/diseases/4214/papilloma-of-choroid-plexus/diagnosis
https://rarediseases.info.nih.gov/diseases/4215/parainfluenza-virus-type-3
https://rarediseases.info.nih.gov/diseases/4215/parainfluenza-virus-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/4218/paraomphalocele
https://rarediseases.info.nih.gov/diseases/4218/paraomphalocele/diagnosis
https://rarediseases.info.nih.gov/diseases/4219/autosomal-dominant-spastic-paraplegia-type-17
https://rarediseases.info.nih.gov/diseases/4219/autosomal-dominant-spastic-paraplegia-type-17/diagnosis
https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism
https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism/diagnosis
https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome
https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia
https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/4227/idiopathic-ventricular-fibrillation-non-brugada-type
https://rarediseases.info.nih.gov/diseases/4227/idiopathic-ventricular-fibrillation-non-brugada-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4228/neuralgic-amyotrophy
https://rarediseases.info.nih.gov/diseases/4228/neuralgic-amyotrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-septal-defect
https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-septal-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/4235/partington-syndrome
https://rarediseases.info.nih.gov/diseases/4235/partington-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4236/fetal-parvovirus-syndrome
https://rarediseases.info.nih.gov/diseases/4236/fetal-parvovirus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome
https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly-syndrome
https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/425/tufted-angioma
https://rarediseases.info.nih.gov/diseases/425/tufted-angioma/diagnosis
https://rarediseases.info.nih.gov/diseases/4259/pseudoleprechaunism-syndrome-patterson-type
https://rarediseases.info.nih.gov/diseases/4259/pseudoleprechaunism-syndrome-patterson-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome
https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4261/oligoarticular-juvenile-idiopathic-arthritis
https://rarediseases.info.nih.gov/diseases/4261/oligoarticular-juvenile-idiopathic-arthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome
https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease
https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/4266/pelizaeus-merzbacher-like-disease-due-to-aimp1-mutation
https://rarediseases.info.nih.gov/diseases/4266/pelizaeus-merzbacher-like-disease-due-to-aimp1-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome
https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4269/pelvic-dysplasia-arthrogryposis-of-lower-limbs-syndrome
https://rarediseases.info.nih.gov/diseases/4269/pelvic-dysplasia-arthrogryposis-of-lower-limbs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/427/ptosis-vocal-cord-paralysis-syndrome
https://rarediseases.info.nih.gov/diseases/427/ptosis-vocal-cord-paralysis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4271/pendred-syndrome
https://rarediseases.info.nih.gov/diseases/4271/pendred-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4272/penile-agenesis
https://rarediseases.info.nih.gov/diseases/4272/penile-agenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/4273/penoscrotal-transposition
https://rarediseases.info.nih.gov/diseases/4273/penoscrotal-transposition/diagnosis
https://rarediseases.info.nih.gov/diseases/4276/acroosteolysis-keloid-like-lesions-premature-aging-syndrome
https://rarediseases.info.nih.gov/diseases/4276/acroosteolysis-keloid-like-lesions-premature-aging-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4278/phosphoenolpyruvate-carboxykinase-deficiency-cytosolic
https://rarediseases.info.nih.gov/diseases/4278/phosphoenolpyruvate-carboxykinase-deficiency-cytosolic/diagnosis
https://rarediseases.info.nih.gov/diseases/4279/phosphoenolpyruvate-carboxykinase-deficiency-mitochondrial
https://rarediseases.info.nih.gov/diseases/4279/phosphoenolpyruvate-carboxykinase-deficiency-mitochondrial/diagnosis
https://rarediseases.info.nih.gov/diseases/428/craniofrontonasal-dysplasia-poland-anomaly-syndrome
https://rarediseases.info.nih.gov/diseases/428/craniofrontonasal-dysplasia-poland-anomaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/429/constriction-rings-syndrome
https://rarediseases.info.nih.gov/diseases/429/constriction-rings-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4291/alopecia-intellectual-disability-syndrome-2
https://rarediseases.info.nih.gov/diseases/4291/alopecia-intellectual-disability-syndrome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4299/autosomal-recessive-distal-osteolysis-syndrome
https://rarediseases.info.nih.gov/diseases/4299/autosomal-recessive-distal-osteolysis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9
https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9/diagnosis
https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome
https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4303/deafness-genital-anomalies-metacarpal-and-metatarsal-synostosis-syndrome
https://rarediseases.info.nih.gov/diseases/4303/deafness-genital-anomalies-metacarpal-and-metatarsal-synostosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4304/preaxial-polydactyly-colobomata-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4304/preaxial-polydactyly-colobomata-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome
https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/431/microtia
https://rarediseases.info.nih.gov/diseases/431/microtia/diagnosis
https://rarediseases.info.nih.gov/diseases/4311/phakomatosis-pigmentokeratotica
https://rarediseases.info.nih.gov/diseases/4311/phakomatosis-pigmentokeratotica/diagnosis
https://rarediseases.info.nih.gov/diseases/4312/phakomatosis-pigmentovascularis
https://rarediseases.info.nih.gov/diseases/4312/phakomatosis-pigmentovascularis/diagnosis
https://rarediseases.info.nih.gov/diseases/4315/phenobarbital-embryopathy
https://rarediseases.info.nih.gov/diseases/4315/phenobarbital-embryopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency
https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4323/phocomelia-ectrodactyly-deafness-sinus-arrhythmia-syndrome
https://rarediseases.info.nih.gov/diseases/4323/phocomelia-ectrodactyly-deafness-sinus-arrhythmia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4329/pgm1-cdg
https://rarediseases.info.nih.gov/diseases/4329/pgm1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess
https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess/diagnosis
https://rarediseases.info.nih.gov/diseases/4331/pgm3-cdg
https://rarediseases.info.nih.gov/diseases/4331/pgm3-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity
https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity/diagnosis
https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-with-stenosis-of-the-aqueduct-of-sylvius
https://rarediseases.info.nih.gov/diseases/434/hydrocephalus-with-stenosis-of-the-aqueduct-of-sylvius/diagnosis
https://rarediseases.info.nih.gov/diseases/4344/piebaldism
https://rarediseases.info.nih.gov/diseases/4344/piebaldism/diagnosis
https://rarediseases.info.nih.gov/diseases/4346/autosomal-dominant-cerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/4346/autosomal-dominant-cerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/4347/isolated-pierre-robin-syndrome
https://rarediseases.info.nih.gov/diseases/4347/isolated-pierre-robin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/435/cleft-lip-retinopathy-syndrome
https://rarediseases.info.nih.gov/diseases/435/cleft-lip-retinopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome
https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4357/late-onset-retinal-degeneration
https://rarediseases.info.nih.gov/diseases/4357/late-onset-retinal-degeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/4358/severe-combined-immunodeficiency-due-to-foxn1-deficiency
https://rarediseases.info.nih.gov/diseases/4358/severe-combined-immunodeficiency-due-to-foxn1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4359/ringed-hair-disease
https://rarediseases.info.nih.gov/diseases/4359/ringed-hair-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/436/adult-onset-still-disease
https://rarediseases.info.nih.gov/diseases/436/adult-onset-still-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/4361/pili-torti
https://rarediseases.info.nih.gov/diseases/4361/pili-torti/diagnosis
https://rarediseases.info.nih.gov/diseases/4362/pili-torti-developmental-delay-neurological-abnormalities-syndrome
https://rarediseases.info.nih.gov/diseases/4362/pili-torti-developmental-delay-neurological-abnormalities-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4364/pili-torti-onychodysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/4364/pili-torti-onychodysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4365/ophthalmomandibulomelic-dysplasia
https://rarediseases.info.nih.gov/diseases/4365/ophthalmomandibulomelic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4369/trichodermodysplasia-dental-alterations-syndrome
https://rarediseases.info.nih.gov/diseases/4369/trichodermodysplasia-dental-alterations-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome
https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4375/thumb-stiffness-brachydactyly-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4375/thumb-stiffness-brachydactyly-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/438/alpha-sarcoglycan-related-limb-girdle-muscular-dystrophy-r3
https://rarediseases.info.nih.gov/diseases/438/alpha-sarcoglycan-related-limb-girdle-muscular-dystrophy-r3/diagnosis
https://rarediseases.info.nih.gov/diseases/4380/hypoplasminogenemia
https://rarediseases.info.nih.gov/diseases/4380/hypoplasminogenemia/diagnosis
https://rarediseases.info.nih.gov/diseases/4381/congenital-plasminogen-activator-inhibitor-type-1-deficiency
https://rarediseases.info.nih.gov/diseases/4381/congenital-plasminogen-activator-inhibitor-type-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4382/platyspondylic-dysplasia-torrance-type
https://rarediseases.info.nih.gov/diseases/4382/platyspondylic-dysplasia-torrance-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis
https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis/diagnosis
https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma
https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma/diagnosis
https://rarediseases.info.nih.gov/diseases/4391/kindler-epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/4391/kindler-epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/4392/rothmund-thomson-syndrome
https://rarediseases.info.nih.gov/diseases/4392/rothmund-thomson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome
https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4412/orofaciodigital-syndrome-type-6
https://rarediseases.info.nih.gov/diseases/4412/orofaciodigital-syndrome-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome
https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4417/polydactyly-of-a-biphalangeal-thumb
https://rarediseases.info.nih.gov/diseases/4417/polydactyly-of-a-biphalangeal-thumb/diagnosis
https://rarediseases.info.nih.gov/diseases/4421/catecholaminergic-polymorphic-ventricular-tachycardia
https://rarediseases.info.nih.gov/diseases/4421/catecholaminergic-polymorphic-ventricular-tachycardia/diagnosis
https://rarediseases.info.nih.gov/diseases/4424/polyneuropathy-intellectual-disability-acromicria-premature-menopause-syndrome
https://rarediseases.info.nih.gov/diseases/4424/polyneuropathy-intellectual-disability-acromicria-premature-menopause-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-syndrome
https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4428/polysyndactyly-cardiac-malformation-syndrome
https://rarediseases.info.nih.gov/diseases/4428/polysyndactyly-cardiac-malformation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4
https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/4436/bartsocas-papas-syndrome
https://rarediseases.info.nih.gov/diseases/4436/bartsocas-papas-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4437/porencephaly-cerebellar-hypoplasia-internal-malformations-syndrome
https://rarediseases.info.nih.gov/diseases/4437/porencephaly-cerebellar-hypoplasia-internal-malformations-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4438/porokeratosis-of-mibelli
https://rarediseases.info.nih.gov/diseases/4438/porokeratosis-of-mibelli/diagnosis
https://rarediseases.info.nih.gov/diseases/4439/punctate-palmoplantar-keratoderma-type-2
https://rarediseases.info.nih.gov/diseases/4439/punctate-palmoplantar-keratoderma-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4446/congenital-erythropoietic-porphyria
https://rarediseases.info.nih.gov/diseases/4446/congenital-erythropoietic-porphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/4454/postpoliomyelitis-syndrome
https://rarediseases.info.nih.gov/diseases/4454/postpoliomyelitis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4457/posterior-uveitis
https://rarediseases.info.nih.gov/diseases/4457/posterior-uveitis/diagnosis
https://rarediseases.info.nih.gov/diseases/4459/potassium-aggravated-myotonia
https://rarediseases.info.nih.gov/diseases/4459/potassium-aggravated-myotonia/diagnosis
https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome
https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4470/guttmacher-syndrome
https://rarediseases.info.nih.gov/diseases/4470/guttmacher-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4475/familial-male-limited-precocious-puberty
https://rarediseases.info.nih.gov/diseases/4475/familial-male-limited-precocious-puberty/diagnosis
https://rarediseases.info.nih.gov/diseases/4477/congenital-prekallikrein-deficiency
https://rarediseases.info.nih.gov/diseases/4477/congenital-prekallikrein-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4478/premature-aging-okamoto-type
https://rarediseases.info.nih.gov/diseases/4478/premature-aging-okamoto-type/diagnosis
https://rarediseases.info.nih.gov/diseases/448/vici-syndrome
https://rarediseases.info.nih.gov/diseases/448/vici-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4480/fmr1-related-primary-ovarian-insufficiency
https://rarediseases.info.nih.gov/diseases/4480/fmr1-related-primary-ovarian-insufficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4482/x-linked-intellectual-disability-dysmorphism-cerebral-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/4482/x-linked-intellectual-disability-dysmorphism-cerebral-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4484/primary-ciliary-dyskinesia
https://rarediseases.info.nih.gov/diseases/4484/primary-ciliary-dyskinesia/diagnosis
https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis
https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4488/intellectual-disability-cataracts-calcified-pinnae-myopathy-syndrome
https://rarediseases.info.nih.gov/diseases/4488/intellectual-disability-cataracts-calcified-pinnae-myopathy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4494/progeria-short-stature-pigmented-nevi-syndrome
https://rarediseases.info.nih.gov/diseases/4494/progeria-short-stature-pigmented-nevi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type
https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type/diagnosis
https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome
https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4500/acromelanosis
https://rarediseases.info.nih.gov/diseases/4500/acromelanosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4503/progressive-external-ophthalmoplegia
https://rarediseases.info.nih.gov/diseases/4503/progressive-external-ophthalmoplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/4504/deafness-x-linked-2
https://rarediseases.info.nih.gov/diseases/4504/deafness-x-linked-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4507/atypical-progressive-supranuclear-palsy-syndrome
https://rarediseases.info.nih.gov/diseases/4507/atypical-progressive-supranuclear-palsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4508/prolactinoma
https://rarediseases.info.nih.gov/diseases/4508/prolactinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst
https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/4513/properdin-deficiency
https://rarediseases.info.nih.gov/diseases/4513/properdin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4518/aprosencephaly-cerebellar-dysgenesis
https://rarediseases.info.nih.gov/diseases/4518/aprosencephaly-cerebellar-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer
https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/4522/transcobalamin-i-deficiency
https://rarediseases.info.nih.gov/diseases/4522/transcobalamin-i-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency
https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4527/autosomal-erythropoietic-protoporphyria
https://rarediseases.info.nih.gov/diseases/4527/autosomal-erythropoietic-protoporphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/4528/corpus-callosum-agenesis-abnormal-genitalia-syndrome
https://rarediseases.info.nih.gov/diseases/4528/corpus-callosum-agenesis-abnormal-genitalia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/453/acanthosis-nigricans-insulin-resistance-muscle-cramps-acral-enlargement-syndrome
https://rarediseases.info.nih.gov/diseases/453/acanthosis-nigricans-insulin-resistance-muscle-cramps-acral-enlargement-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq
https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq/diagnosis
https://rarediseases.info.nih.gov/diseases/4539/bifunctional-enzyme-deficiency
https://rarediseases.info.nih.gov/diseases/4539/bifunctional-enzyme-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas
https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas/diagnosis
https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia
https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4542/pseudoachondroplastic-dysplasia-2
https://rarediseases.info.nih.gov/diseases/4542/pseudoachondroplastic-dysplasia-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4543/peroxisomal-acyl-coa-oxidase-deficiency
https://rarediseases.info.nih.gov/diseases/4543/peroxisomal-acyl-coa-oxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome
https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4550/disorder-of-sex-development-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4550/disorder-of-sex-development-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4552/generalized-pseudohypoaldosteronism-type-1
https://rarediseases.info.nih.gov/diseases/4552/generalized-pseudohypoaldosteronism-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4553/pseudohypoaldosteronism-type-2
https://rarediseases.info.nih.gov/diseases/4553/pseudohypoaldosteronism-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4559/acrootoocular-syndrome
https://rarediseases.info.nih.gov/diseases/4559/acrootoocular-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome
https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4561/idiopathic-intracranial-hypertension
https://rarediseases.info.nih.gov/diseases/4561/idiopathic-intracranial-hypertension/diagnosis
https://rarediseases.info.nih.gov/diseases/4568/pterygium-colli-intellectual-disability-digital-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/4568/pterygium-colli-intellectual-disability-digital-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4569/familial-pterygium-of-the-conjunctiva
https://rarediseases.info.nih.gov/diseases/4569/familial-pterygium-of-the-conjunctiva/diagnosis
https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome
https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4570/antecubital-pterygium-syndrome
https://rarediseases.info.nih.gov/diseases/4570/antecubital-pterygium-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4573/x-linked-lethal-multiple-pterygium-syndrome
https://rarediseases.info.nih.gov/diseases/4573/x-linked-lethal-multiple-pterygium-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4577/ptosis-strabismus-ectopic-pupils-syndrome
https://rarediseases.info.nih.gov/diseases/4577/ptosis-strabismus-ectopic-pupils-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-a4-type
https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-a4-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4582/hereditary-pulmonary-alveolar-proteinosis
https://rarediseases.info.nih.gov/diseases/4582/hereditary-pulmonary-alveolar-proteinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4586/abnormal-origin-of-right-or-left-pulmonary-artery-from-the-aorta
https://rarediseases.info.nih.gov/diseases/4586/abnormal-origin-of-right-or-left-pulmonary-artery-from-the-aorta/diagnosis
https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect
https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/4589/peripheral-pulmonary-stenosis
https://rarediseases.info.nih.gov/diseases/4589/peripheral-pulmonary-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4593/congenital-pulmonary-sequestration
https://rarediseases.info.nih.gov/diseases/4593/congenital-pulmonary-sequestration/diagnosis
https://rarediseases.info.nih.gov/diseases/4594/supravalvular-pulmonary-stenosis
https://rarediseases.info.nih.gov/diseases/4594/supravalvular-pulmonary-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4597/pulmonary-valve-agenesis
https://rarediseases.info.nih.gov/diseases/4597/pulmonary-valve-agenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/4598/congenital-pulmonary-veins-atresia-or-stenosis
https://rarediseases.info.nih.gov/diseases/4598/congenital-pulmonary-veins-atresia-or-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4599/congenital-pulmonary-venous-return-anomaly
https://rarediseases.info.nih.gov/diseases/4599/congenital-pulmonary-venous-return-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/460/achondrogenesis-type-1b
https://rarediseases.info.nih.gov/diseases/460/achondrogenesis-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/4600/pulmonary-atresia-intact-ventricular-septum-syndrome
https://rarediseases.info.nih.gov/diseases/4600/pulmonary-atresia-intact-ventricular-septum-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4603/punctate-acrokeratoderma-freckle-like-pigmentation
https://rarediseases.info.nih.gov/diseases/4603/punctate-acrokeratoderma-freckle-like-pigmentation/diagnosis
https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency
https://rarediseases.info.nih.gov/diseases/4606/purine-nucleoside-phosphorylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4607/immune-mediated-thrombotic-thrombocytopenic-purpura
https://rarediseases.info.nih.gov/diseases/4607/immune-mediated-thrombotic-thrombocytopenic-purpura/diagnosis
https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis
https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis
https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4612/pyle-disease
https://rarediseases.info.nih.gov/diseases/4612/pyle-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/4614/pyomyositis
https://rarediseases.info.nih.gov/diseases/4614/pyomyositis/diagnosis
https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary
https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary/diagnosis
https://rarediseases.info.nih.gov/diseases/4620/pyruvate-dehydrogenase-e1-alpha-deficiency
https://rarediseases.info.nih.gov/diseases/4620/pyruvate-dehydrogenase-e1-alpha-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4624/radial-defect-robin-sequence
https://rarediseases.info.nih.gov/diseases/4624/radial-defect-robin-sequence/diagnosis
https://rarediseases.info.nih.gov/diseases/4627/radial-ray-hypoplasia-choanal-atresia-syndrome
https://rarediseases.info.nih.gov/diseases/4627/radial-ray-hypoplasia-choanal-atresia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4628/oculofaciocardiodental-syndrome
https://rarediseases.info.nih.gov/diseases/4628/oculofaciocardiodental-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4633/absent-radius-anogenital-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/4633/absent-radius-anogenital-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4634/leukocyte-adhesion-deficiency-type-ii
https://rarediseases.info.nih.gov/diseases/4634/leukocyte-adhesion-deficiency-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/4635/retinal-ischemic-syndrome-digestive-tract-small-vessel-hyalinosis-diffuse-cerebral-calcifications-syndrome
https://rarediseases.info.nih.gov/diseases/4635/retinal-ischemic-syndrome-digestive-tract-small-vessel-hyalinosis-diffuse-cerebral-calcifications-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4636/ramos-arroyo-syndrome
https://rarediseases.info.nih.gov/diseases/4636/ramos-arroyo-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome
https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4638/external-auditory-canal-atresia-vertical-talus-hypertelorism-syndrome
https://rarediseases.info.nih.gov/diseases/4638/external-auditory-canal-atresia-vertical-talus-hypertelorism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4641/ichthyosis-intellectual-disability-dwarfism-renal-impairment-syndrome
https://rarediseases.info.nih.gov/diseases/4641/ichthyosis-intellectual-disability-dwarfism-renal-impairment-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4644/ataxia-deafness-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4644/ataxia-deafness-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4647/complex-regional-pain-syndrome
https://rarediseases.info.nih.gov/diseases/4647/complex-regional-pain-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia
https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia/diagnosis
https://rarediseases.info.nih.gov/diseases/4655/renal-caliceal-diverticuli-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/4655/renal-caliceal-diverticuli-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies
https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/4665/nphp3-related-meckel-like-syndrome
https://rarediseases.info.nih.gov/diseases/4665/nphp3-related-meckel-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4666/autosomal-recessive-distal-renal-tubular-acidosis
https://rarediseases.info.nih.gov/diseases/4666/autosomal-recessive-distal-renal-tubular-acidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4667/distal-renal-tubular-acidosis
https://rarediseases.info.nih.gov/diseases/4667/distal-renal-tubular-acidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4668/autosomal-dominant-distal-renal-tubular-acidosis
https://rarediseases.info.nih.gov/diseases/4668/autosomal-dominant-distal-renal-tubular-acidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia
https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia/diagnosis
https://rarediseases.info.nih.gov/diseases/4680/x-linked-retinal-dysplasia
https://rarediseases.info.nih.gov/diseases/4680/x-linked-retinal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4683/retinitis-pigmentosa-intellectual-disability-deafness-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/4683/retinitis-pigmentosa-intellectual-disability-deafness-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome
https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/469/pyramidal-molars-abnormal-upper-lip-syndrome
https://rarediseases.info.nih.gov/diseases/469/pyramidal-molars-abnormal-upper-lip-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4690/x-linked-retinoschisis
https://rarediseases.info.nih.gov/diseases/4690/x-linked-retinoschisis/diagnosis
https://rarediseases.info.nih.gov/diseases/4694/atypical-rett-syndrome
https://rarediseases.info.nih.gov/diseases/4694/atypical-rett-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome
https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome
https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4701/alveolar-rhabdomyosarcoma
https://rarediseases.info.nih.gov/diseases/4701/alveolar-rhabdomyosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4702/embryonal-rhabdomyosarcoma
https://rarediseases.info.nih.gov/diseases/4702/embryonal-rhabdomyosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type
https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4704/polymyalgia-rheumatica
https://rarediseases.info.nih.gov/diseases/4704/polymyalgia-rheumatica/diagnosis
https://rarediseases.info.nih.gov/diseases/4705/rhizomelic-syndrome-urbach-type
https://rarediseases.info.nih.gov/diseases/4705/rhizomelic-syndrome-urbach-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome
https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome
https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4721/isolated-right-ventricular-hypoplasia
https://rarediseases.info.nih.gov/diseases/4721/isolated-right-ventricular-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4722/8q221-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/4722/8q221-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4723/rigid-spine-syndrome
https://rarediseases.info.nih.gov/diseases/4723/rigid-spine-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17-syndrome
https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4729/robin-sequence-oligodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/4729/robin-sequence-oligodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis
https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4737/mayer-rokitansky-kster-hauser-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/4737/mayer-rokitansky-kster-hauser-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome
https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4739/rommen-mueller-sybert-syndrome
https://rarediseases.info.nih.gov/diseases/4739/rommen-mueller-sybert-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4741/roussy-lvy-syndrome
https://rarediseases.info.nih.gov/diseases/4741/roussy-lvy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4742/rubella
https://rarediseases.info.nih.gov/diseases/4742/rubella/diagnosis
https://rarediseases.info.nih.gov/diseases/4744/congenital-rubella-syndrome
https://rarediseases.info.nih.gov/diseases/4744/congenital-rubella-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome
https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4752/kousseff-syndrome
https://rarediseases.info.nih.gov/diseases/4752/kousseff-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4766/childhood-onset-schizophrenia
https://rarediseases.info.nih.gov/diseases/4766/childhood-onset-schizophrenia/diagnosis
https://rarediseases.info.nih.gov/diseases/4767/benign-schwannoma
https://rarediseases.info.nih.gov/diseases/4767/benign-schwannoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4768/schwannomatosis
https://rarediseases.info.nih.gov/diseases/4768/schwannomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4769/congenital-muscular-dystrophy-ullrich-type
https://rarediseases.info.nih.gov/diseases/4769/congenital-muscular-dystrophy-ullrich-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4771/sclerosteosis
https://rarediseases.info.nih.gov/diseases/4771/sclerosteosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4774/succinyl-coa3-oxoacid-coa-transferase-deficiency
https://rarediseases.info.nih.gov/diseases/4774/succinyl-coa3-oxoacid-coa-transferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4775/aarskog-scott-syndrome
https://rarediseases.info.nih.gov/diseases/4775/aarskog-scott-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4776/craniodigital-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4776/craniodigital-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome
https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4778/facial-dysmorphism-shawl-scrotum-joint-laxity-syndrome
https://rarediseases.info.nih.gov/diseases/4778/facial-dysmorphism-shawl-scrotum-joint-laxity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4791/selig-benacerraf-greene-syndrome
https://rarediseases.info.nih.gov/diseases/4791/selig-benacerraf-greene-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4792/testicular-seminomatous-germ-cell-tumor
https://rarediseases.info.nih.gov/diseases/4792/testicular-seminomatous-germ-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/48/isolated-cytochrome-c-oxidase-deficiency
https://rarediseases.info.nih.gov/diseases/48/isolated-cytochrome-c-oxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/480/acro-renal-mandibular-syndrome
https://rarediseases.info.nih.gov/diseases/480/acro-renal-mandibular-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4815/spontaneous-periodic-hypothermia
https://rarediseases.info.nih.gov/diseases/4815/spontaneous-periodic-hypothermia/diagnosis
https://rarediseases.info.nih.gov/diseases/4818/shigellosis
https://rarediseases.info.nih.gov/diseases/4818/shigellosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type
https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4832/short-rib-polydactyly-syndrome-beemer-langer-type
https://rarediseases.info.nih.gov/diseases/4832/short-rib-polydactyly-syndrome-beemer-langer-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4833/short-rib-polydactyly-syndrome-majewski-type
https://rarediseases.info.nih.gov/diseases/4833/short-rib-polydactyly-syndrome-majewski-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4838/short-stature-brussels-type
https://rarediseases.info.nih.gov/diseases/4838/short-stature-brussels-type/diagnosis
https://rarediseases.info.nih.gov/diseases/484/acrofrontofacionasal-dysostosis
https://rarediseases.info.nih.gov/diseases/484/acrofrontofacionasal-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4841/short-stature-deafness-neutrophil-dysfunction-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/4841/short-stature-deafness-neutrophil-dysfunction-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4856/short-stature-wormian-bones-dextrocardia-syndrome
https://rarediseases.info.nih.gov/diseases/4856/short-stature-wormian-bones-dextrocardia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4861/shprintzen-goldberg-syndrome
https://rarediseases.info.nih.gov/diseases/4861/shprintzen-goldberg-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome
https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4865/sialuria
https://rarediseases.info.nih.gov/diseases/4865/sialuria/diagnosis
https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome
https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4869/sillence-syndrome
https://rarediseases.info.nih.gov/diseases/4869/sillence-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4870/silver-russell-syndrome
https://rarediseases.info.nih.gov/diseases/4870/silver-russell-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4873/flat-face-microstomia-ear-anomaly-syndrome
https://rarediseases.info.nih.gov/diseases/4873/flat-face-microstomia-ear-anomaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4877/solitary-median-maxillary-central-incisor
https://rarediseases.info.nih.gov/diseases/4877/solitary-median-maxillary-central-incisor/diagnosis
https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-ii
https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia
https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia/diagnosis
https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a
https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a/diagnosis
https://rarediseases.info.nih.gov/diseases/4883/situs-inversus-totalis
https://rarediseases.info.nih.gov/diseases/4883/situs-inversus-totalis/diagnosis
https://rarediseases.info.nih.gov/diseases/4886/mononen-karnes-senac-syndrome
https://rarediseases.info.nih.gov/diseases/4886/mononen-karnes-senac-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4891/leukoencephalopathy-spondyloepimetaphyseal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/4891/leukoencephalopathy-spondyloepimetaphyseal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4898/soft-tissue-sarcoma
https://rarediseases.info.nih.gov/diseases/4898/soft-tissue-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4899/male-hypergonadotropic-hypogonadism-intellectual-disability-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/4899/male-hypergonadotropic-hypogonadism-intellectual-disability-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/49/de-barsy-syndrome
https://rarediseases.info.nih.gov/diseases/49/de-barsy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma
https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/4905/congenital-heart-defect-round-face-developmental-delay-syndrome
https://rarediseases.info.nih.gov/diseases/4905/congenital-heart-defect-round-face-developmental-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis
https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis/diagnosis
https://rarediseases.info.nih.gov/diseases/491/acrodysplasia-scoliosis
https://rarediseases.info.nih.gov/diseases/491/acrodysplasia-scoliosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4910/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
https://rarediseases.info.nih.gov/diseases/4910/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay/diagnosis
https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis
https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/4915/spastic-paraplegia-epilepsy-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4915/spastic-paraplegia-epilepsy-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4918/spastic-paraplegia-precocious-puberty-syndrome
https://rarediseases.info.nih.gov/diseases/4918/spastic-paraplegia-precocious-puberty-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4919/autosomal-recessive-spastic-paraplegia-type-11
https://rarediseases.info.nih.gov/diseases/4919/autosomal-recessive-spastic-paraplegia-type-11/diagnosis
https://rarediseases.info.nih.gov/diseases/4921/spastic-paraplegia-neuropathy-poikiloderma-syndrome
https://rarediseases.info.nih.gov/diseases/4921/spastic-paraplegia-neuropathy-poikiloderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4922/autosomal-recessive-spastic-paraplegia-type-18
https://rarediseases.info.nih.gov/diseases/4922/autosomal-recessive-spastic-paraplegia-type-18/diagnosis
https://rarediseases.info.nih.gov/diseases/4923/spastic-paraplegia-type-2
https://rarediseases.info.nih.gov/diseases/4923/spastic-paraplegia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4924/autosomal-recessive-spastic-paraplegia-type-39
https://rarediseases.info.nih.gov/diseases/4924/autosomal-recessive-spastic-paraplegia-type-39/diagnosis
https://rarediseases.info.nih.gov/diseases/4925/autosomal-dominant-spastic-paraplegia-type-4
https://rarediseases.info.nih.gov/diseases/4925/autosomal-dominant-spastic-paraplegia-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/4926/autosomal-recessive-spastic-paraplegia-type-5a
https://rarediseases.info.nih.gov/diseases/4926/autosomal-recessive-spastic-paraplegia-type-5a/diagnosis
https://rarediseases.info.nih.gov/diseases/4927/spastic-paraplegia-type-7
https://rarediseases.info.nih.gov/diseases/4927/spastic-paraplegia-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/4928/autosomal-dominant-spastic-paraplegia-type-6
https://rarediseases.info.nih.gov/diseases/4928/autosomal-dominant-spastic-paraplegia-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/4931/spastic-paraplegia-glaucoma-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4931/spastic-paraplegia-glaucoma-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4932/spastic-tetraplegia-retinitis-pigmentosa-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/4932/spastic-tetraplegia-retinitis-pigmentosa-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4936/weill-marchesani-syndrome
https://rarediseases.info.nih.gov/diseases/4936/weill-marchesani-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4938/juvenile-neuronal-ceroid-lipofuscinosis
https://rarediseases.info.nih.gov/diseases/4938/juvenile-neuronal-ceroid-lipofuscinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type
https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4940/spina-bifida-hypospadias-syndrome
https://rarediseases.info.nih.gov/diseases/4940/spina-bifida-hypospadias-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome
https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4945/proximal-spinal-muscular-atrophy-type-2
https://rarediseases.info.nih.gov/diseases/4945/proximal-spinal-muscular-atrophy-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/4947/spinal-muscular-atrophy-with-congenital-bone-fractures-1
https://rarediseases.info.nih.gov/diseases/4947/spinal-muscular-atrophy-with-congenital-bone-fractures-1/diagnosis
https://rarediseases.info.nih.gov/diseases/4950/spinocerebellar-ataxia-type-30
https://rarediseases.info.nih.gov/diseases/4950/spinocerebellar-ataxia-type-30/diagnosis
https://rarediseases.info.nih.gov/diseases/4952/autosomal-recessive-cerebellar-ataxia-movement-disorder-syndrome
https://rarediseases.info.nih.gov/diseases/4952/autosomal-recessive-cerebellar-ataxia-movement-disorder-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4953/spinocerebellar-ataxia-type-5
https://rarediseases.info.nih.gov/diseases/4953/spinocerebellar-ataxia-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/4954/infantile-onset-autosomal-recessive-nonprogressive-cerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/4954/infantile-onset-autosomal-recessive-nonprogressive-cerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-type-8
https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/4958/spinocerebellar-ataxia-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/4958/spinocerebellar-ataxia-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodrguez-type
https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodrguez-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4963/splenogonadal-fusion-limb-defects-micrognathia-syndrome
https://rarediseases.info.nih.gov/diseases/4963/splenogonadal-fusion-limb-defects-micrognathia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4967/karsch-neugebauer-syndrome
https://rarediseases.info.nih.gov/diseases/4967/karsch-neugebauer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4969/czeizel-losonci-syndrome
https://rarediseases.info.nih.gov/diseases/4969/czeizel-losonci-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/497/acrofacial-dysostosis-weyers-type
https://rarediseases.info.nih.gov/diseases/497/acrofacial-dysostosis-weyers-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4970/sponastrime-dysplasia
https://rarediseases.info.nih.gov/diseases/4970/sponastrime-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4972/spondylocamptodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/4972/spondylocamptodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis
https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia
https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4979/x-linked-spondyloepimetaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/4979/x-linked-spondyloepimetaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/498/nager-syndrome
https://rarediseases.info.nih.gov/diseases/498/nager-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type
https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4982/spondyloepimetaphyseal-dysplasia-with-joint-laxity
https://rarediseases.info.nih.gov/diseases/4982/spondyloepimetaphyseal-dysplasia-with-joint-laxity/diagnosis
https://rarediseases.info.nih.gov/diseases/4984/schimke-immuno-osseous-dysplasia
https://rarediseases.info.nih.gov/diseases/4984/schimke-immuno-osseous-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked
https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked/diagnosis
https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita
https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/499/acrofacial-dysostosis-palagonia-type
https://rarediseases.info.nih.gov/diseases/499/acrofacial-dysostosis-palagonia-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type
https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type
https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type
https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type/diagnosis
https://rarediseases.info.nih.gov/diseases/4994/spondyloperipheral-dysplasia-short-ulna-syndrome
https://rarediseases.info.nih.gov/diseases/4994/spondyloperipheral-dysplasia-short-ulna-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/4997/familial-spontaneous-pneumothorax
https://rarediseases.info.nih.gov/diseases/4997/familial-spontaneous-pneumothorax/diagnosis
https://rarediseases.info.nih.gov/diseases/5003/sebocystomatosis
https://rarediseases.info.nih.gov/diseases/5003/sebocystomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5004/steatocystoma-multiplex-natal-teeth-syndrome
https://rarediseases.info.nih.gov/diseases/5004/steatocystoma-multiplex-natal-teeth-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome
https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft
https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft/diagnosis
https://rarediseases.info.nih.gov/diseases/5015/steroid-dehydrogenase-deficiency-dental-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/5015/steroid-dehydrogenase-deficiency-dental-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5021/autosomal-dominant-otospondylomegaepiphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/5021/autosomal-dominant-otospondylomegaepiphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5023/stiff-person-spectrum-disorder
https://rarediseases.info.nih.gov/diseases/5023/stiff-person-spectrum-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome
https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5026/stimmler-syndrome
https://rarediseases.info.nih.gov/diseases/5026/stimmler-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5027/non-eruption-of-teeth-maxillary-hypoplasia-genu-valgum-syndrome
https://rarediseases.info.nih.gov/diseases/5027/non-eruption-of-teeth-maxillary-hypoplasia-genu-valgum-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5029/arthrogryposis-ectodermal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/5029/arthrogryposis-ectodermal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5034/alpha-delta-granule-deficiency
https://rarediseases.info.nih.gov/diseases/5034/alpha-delta-granule-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome
https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/504/spondylometaphyseal-dysplasia-schmidt-type
https://rarediseases.info.nih.gov/diseases/504/spondylometaphyseal-dysplasia-schmidt-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5040/infantile-bilateral-striatal-necrosis
https://rarediseases.info.nih.gov/diseases/5040/infantile-bilateral-striatal-necrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5041/autosomal-dominant-spastic-paraplegia-type-3
https://rarediseases.info.nih.gov/diseases/5041/autosomal-dominant-spastic-paraplegia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/5045/stve-wiedemann-syndrome
https://rarediseases.info.nih.gov/diseases/5045/stve-wiedemann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5049/classic-lissencephaly
https://rarediseases.info.nih.gov/diseases/5049/classic-lissencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type
https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia
https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia/diagnosis
https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis
https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis
https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5053/isolated-succinate-coq-reductase-deficiency
https://rarediseases.info.nih.gov/diseases/5053/isolated-succinate-coq-reductase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly
https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/506/acromesomelic-dysplasia-hunter-thompson-type
https://rarediseases.info.nih.gov/diseases/506/acromesomelic-dysplasia-hunter-thompson-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5061/multiple-sulfatase-deficiency
https://rarediseases.info.nih.gov/diseases/5061/multiple-sulfatase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5062/isolated-sulfite-oxidase-deficiency
https://rarediseases.info.nih.gov/diseases/5062/isolated-sulfite-oxidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5068/46xy-complete-gonadal-dysgenesis
https://rarediseases.info.nih.gov/diseases/5068/46xy-complete-gonadal-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type
https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications
https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications/diagnosis
https://rarediseases.info.nih.gov/diseases/5074/distal-symphalangism
https://rarediseases.info.nih.gov/diseases/5074/distal-symphalangism/diagnosis
https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet
https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet/diagnosis
https://rarediseases.info.nih.gov/diseases/508/hajdu-cheney-syndrome
https://rarediseases.info.nih.gov/diseases/508/hajdu-cheney-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5081/syndactyly-type-1
https://rarediseases.info.nih.gov/diseases/5081/syndactyly-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/5084/cenani-lenz-syndrome
https://rarediseases.info.nih.gov/diseases/5084/cenani-lenz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5087/syndactyly-type-2
https://rarediseases.info.nih.gov/diseases/5087/syndactyly-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3
https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5
https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/5090/syndactyly-polydactyly-ear-lobe-syndrome
https://rarediseases.info.nih.gov/diseases/5090/syndactyly-polydactyly-ear-lobe-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5091/syngnathia-cleft-palate-syndrome
https://rarediseases.info.nih.gov/diseases/5091/syngnathia-cleft-palate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5092/dobrow-syndrome
https://rarediseases.info.nih.gov/diseases/5092/dobrow-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5100/syringocystadenoma-papilliferum
https://rarediseases.info.nih.gov/diseases/5100/syringocystadenoma-papilliferum/diagnosis
https://rarediseases.info.nih.gov/diseases/5104/systemic-primary-carnitine-deficiency
https://rarediseases.info.nih.gov/diseases/5104/systemic-primary-carnitine-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5106/systemic-necrotizing-angitis
https://rarediseases.info.nih.gov/diseases/5106/systemic-necrotizing-angitis/diagnosis
https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome
https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect
https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/5116/thrombocytopenia-absent-radius-syndrome
https://rarediseases.info.nih.gov/diseases/5116/thrombocytopenia-absent-radius-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome
https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia
https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-types-i-and-iii
https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-types-i-and-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/5121/otopalatodigital-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/5121/otopalatodigital-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/5123/anonychia-microcephaly-syndrome
https://rarediseases.info.nih.gov/diseases/5123/anonychia-microcephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5124/autosomal-recessive-faciodigitogenital-syndrome
https://rarediseases.info.nih.gov/diseases/5124/autosomal-recessive-faciodigitogenital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome
https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5126/trigonocephaly-bifid-nose-acral-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/5126/trigonocephaly-bifid-nose-acral-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5133/piebald-trait-neurologic-defects-syndrome
https://rarediseases.info.nih.gov/diseases/5133/piebald-trait-neurologic-defects-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5135/familial-temporal-lobe-epilepsy
https://rarediseases.info.nih.gov/diseases/5135/familial-temporal-lobe-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome
https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/514/acrorenal-syndrome
https://rarediseases.info.nih.gov/diseases/514/acrorenal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma
https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5144/tetanus
https://rarediseases.info.nih.gov/diseases/5144/tetanus/diagnosis
https://rarediseases.info.nih.gov/diseases/5148/tetra-amelia
https://rarediseases.info.nih.gov/diseases/5148/tetra-amelia/diagnosis
https://rarediseases.info.nih.gov/diseases/5151/tetraploidy
https://rarediseases.info.nih.gov/diseases/5151/tetraploidy/diagnosis
https://rarediseases.info.nih.gov/diseases/5153/inverted-duplicated-chromosome-15-syndrome
https://rarediseases.info.nih.gov/diseases/5153/inverted-duplicated-chromosome-15-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome
https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/517/fetal-retinoid-syndrome
https://rarediseases.info.nih.gov/diseases/517/fetal-retinoid-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation
https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation/diagnosis
https://rarediseases.info.nih.gov/diseases/5173/thiopurine-s-methyltranferase-deficiency
https://rarediseases.info.nih.gov/diseases/5173/thiopurine-s-methyltranferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5175/thomas-syndrome
https://rarediseases.info.nih.gov/diseases/5175/thomas-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5176/x-linked-thrombocytopenia-with-normal-platelets
https://rarediseases.info.nih.gov/diseases/5176/x-linked-thrombocytopenia-with-normal-platelets/diagnosis
https://rarediseases.info.nih.gov/diseases/5177/hepatic-fibrosis-renal-cysts-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/5177/hepatic-fibrosis-renal-cysts-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome
https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication
https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5186/krt1-related-diffuse-nonepidermolytic-keratoderma
https://rarediseases.info.nih.gov/diseases/5186/krt1-related-diffuse-nonepidermolytic-keratoderma/diagnosis
https://rarediseases.info.nih.gov/diseases/5188/stormorken-sjaastad-langslet-syndrome
https://rarediseases.info.nih.gov/diseases/5188/stormorken-sjaastad-langslet-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/519/idiopathic-acute-eosinophilic-pneumonia
https://rarediseases.info.nih.gov/diseases/519/idiopathic-acute-eosinophilic-pneumonia/diagnosis
https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2
https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2/diagnosis
https://rarediseases.info.nih.gov/diseases/5194/immune-thrombocytopenia
https://rarediseases.info.nih.gov/diseases/5194/immune-thrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/5195/familial-thrombomodulin-anomalies
https://rarediseases.info.nih.gov/diseases/5195/familial-thrombomodulin-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/5199/thumb-deformity-alopecia-pigmentation-anomaly-syndrome
https://rarediseases.info.nih.gov/diseases/5199/thumb-deformity-alopecia-pigmentation-anomaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5201/thymic-epithelial-neoplasm
https://rarediseases.info.nih.gov/diseases/5201/thymic-epithelial-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia
https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst
https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/5206/thyroid-cancer-nonmedullary-2
https://rarediseases.info.nih.gov/diseases/5206/thyroid-cancer-nonmedullary-2/diagnosis
https://rarediseases.info.nih.gov/diseases/521/sweet-syndrome
https://rarediseases.info.nih.gov/diseases/521/sweet-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5210/absent-tibia-polydactyly-arachnoid-cyst-syndrome
https://rarediseases.info.nih.gov/diseases/5210/absent-tibia-polydactyly-arachnoid-cyst-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis
https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/522/acute-lymphoblastic-leukemia
https://rarediseases.info.nih.gov/diseases/522/acute-lymphoblastic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5221/hereditary-neuropathy-with-liability-to-pressure-palsies
https://rarediseases.info.nih.gov/diseases/5221/hereditary-neuropathy-with-liability-to-pressure-palsies/diagnosis
https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome
https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5230/torticollis-keloids-cryptorchidism-renal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/5230/torticollis-keloids-cryptorchidism-renal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome
https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5232/weismann-netter-syndrome
https://rarediseases.info.nih.gov/diseases/5232/weismann-netter-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis
https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/5235/tracheobronchopathia-osteochondroplastica
https://rarediseases.info.nih.gov/diseases/5235/tracheobronchopathia-osteochondroplastica/diagnosis
https://rarediseases.info.nih.gov/diseases/5237/hypoplastic-pancreas-intestinal-atresia-hypoplastic-gallbladder-syndrome
https://rarediseases.info.nih.gov/diseases/5237/hypoplastic-pancreas-intestinal-atresia-hypoplastic-gallbladder-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5238/x-linked-intellectual-disability-seizures-psoriasis-syndrome
https://rarediseases.info.nih.gov/diseases/5238/x-linked-intellectual-disability-seizures-psoriasis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia
https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5243/autosomal-dominant-optic-atrophy-plus-syndrome
https://rarediseases.info.nih.gov/diseases/5243/autosomal-dominant-optic-atrophy-plus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/525/acute-monoblasticmonocytic-leukemia
https://rarediseases.info.nih.gov/diseases/525/acute-monoblasticmonocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5250/trichinellosis
https://rarediseases.info.nih.gov/diseases/5250/trichinellosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5258/syndromic-diarrhea
https://rarediseases.info.nih.gov/diseases/5258/syndromic-diarrhea/diagnosis
https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation
https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation/diagnosis
https://rarediseases.info.nih.gov/diseases/5261/trichodysplasia-xeroderma-syndrome
https://rarediseases.info.nih.gov/diseases/5261/trichodysplasia-xeroderma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma
https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5266/trichomegaly-retina-pigmentary-degeneration-dwarfism-syndrome
https://rarediseases.info.nih.gov/diseases/5266/trichomegaly-retina-pigmentary-degeneration-dwarfism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia
https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation
https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation/diagnosis
https://rarediseases.info.nih.gov/diseases/5274/tricuspid-atresia
https://rarediseases.info.nih.gov/diseases/5274/tricuspid-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-cerebrofrontofacial-syndrome
https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-cerebrofrontofacial-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5286/triopia
https://rarediseases.info.nih.gov/diseases/5286/triopia/diagnosis
https://rarediseases.info.nih.gov/diseases/5287/triose-phosphate-isomerase-deficiency
https://rarediseases.info.nih.gov/diseases/5287/triose-phosphate-isomerase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5288/triphalangeal-thumb-non-opposable
https://rarediseases.info.nih.gov/diseases/5288/triphalangeal-thumb-non-opposable/diagnosis
https://rarediseases.info.nih.gov/diseases/5289/polydactyly-of-a-triphalangeal-thumb
https://rarediseases.info.nih.gov/diseases/5289/polydactyly-of-a-triphalangeal-thumb/diagnosis
https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia
https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5290/triphalangeal-thumbs-brachyectrodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/5290/triphalangeal-thumbs-brachyectrodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5295/triploidy
https://rarediseases.info.nih.gov/diseases/5295/triploidy/diagnosis
https://rarediseases.info.nih.gov/diseases/5299/trisomy-10p
https://rarediseases.info.nih.gov/diseases/5299/trisomy-10p/diagnosis
https://rarediseases.info.nih.gov/diseases/5304/mosaic-trisomy-12
https://rarediseases.info.nih.gov/diseases/5304/mosaic-trisomy-12/diagnosis
https://rarediseases.info.nih.gov/diseases/5305/trisomy-12p
https://rarediseases.info.nih.gov/diseases/5305/trisomy-12p/diagnosis
https://rarediseases.info.nih.gov/diseases/5313/mosaic-trisomy-15
https://rarediseases.info.nih.gov/diseases/5313/mosaic-trisomy-15/diagnosis
https://rarediseases.info.nih.gov/diseases/5314/chromosome-15q-duplication
https://rarediseases.info.nih.gov/diseases/5314/chromosome-15q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5315/chromosome-16p-duplication
https://rarediseases.info.nih.gov/diseases/5315/chromosome-16p-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5317/mosaic-trisomy-17
https://rarediseases.info.nih.gov/diseases/5317/mosaic-trisomy-17/diagnosis
https://rarediseases.info.nih.gov/diseases/5318/trisomy-17p
https://rarediseases.info.nih.gov/diseases/5318/trisomy-17p/diagnosis
https://rarediseases.info.nih.gov/diseases/5323/trisomy-18p
https://rarediseases.info.nih.gov/diseases/5323/trisomy-18p/diagnosis
https://rarediseases.info.nih.gov/diseases/5331/mosaic-trisomy-2
https://rarediseases.info.nih.gov/diseases/5331/mosaic-trisomy-2/diagnosis
https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy
https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy/diagnosis
https://rarediseases.info.nih.gov/diseases/5333/trisomy-20p
https://rarediseases.info.nih.gov/diseases/5333/trisomy-20p/diagnosis
https://rarediseases.info.nih.gov/diseases/5335/trisomy-22
https://rarediseases.info.nih.gov/diseases/5335/trisomy-22/diagnosis
https://rarediseases.info.nih.gov/diseases/5337/chromosome-2p-duplication
https://rarediseases.info.nih.gov/diseases/5337/chromosome-2p-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5340/chromosome-2q-duplication
https://rarediseases.info.nih.gov/diseases/5340/chromosome-2q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5342/mosaic-trisomy-3
https://rarediseases.info.nih.gov/diseases/5342/mosaic-trisomy-3/diagnosis
https://rarediseases.info.nih.gov/diseases/5343/chromosome-3p-duplication
https://rarediseases.info.nih.gov/diseases/5343/chromosome-3p-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5345/chromosome-3q-duplication
https://rarediseases.info.nih.gov/diseases/5345/chromosome-3q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5347/chromosome-4q-duplication
https://rarediseases.info.nih.gov/diseases/5347/chromosome-4q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5351/chromosome-5q-duplication
https://rarediseases.info.nih.gov/diseases/5351/chromosome-5q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5352/chromosome-6p-duplication
https://rarediseases.info.nih.gov/diseases/5352/chromosome-6p-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5353/chromosome-6q-duplication
https://rarediseases.info.nih.gov/diseases/5353/chromosome-6q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7
https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7/diagnosis
https://rarediseases.info.nih.gov/diseases/5355/chromosome-7p-duplication
https://rarediseases.info.nih.gov/diseases/5355/chromosome-7p-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5357/chromosome-7q-duplication
https://rarediseases.info.nih.gov/diseases/5357/chromosome-7q-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8
https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8/diagnosis
https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22
https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22/diagnosis
https://rarediseases.info.nih.gov/diseases/5361/chromosome-8p-duplication
https://rarediseases.info.nih.gov/diseases/5361/chromosome-8p-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5362/trisomy-8q
https://rarediseases.info.nih.gov/diseases/5362/trisomy-8q/diagnosis
https://rarediseases.info.nih.gov/diseases/5369/chromosome-xq-duplication
https://rarediseases.info.nih.gov/diseases/5369/chromosome-xq-duplication/diagnosis
https://rarediseases.info.nih.gov/diseases/5372/autosomal-recessive-spastic-paraplegia-type-20
https://rarediseases.info.nih.gov/diseases/5372/autosomal-recessive-spastic-paraplegia-type-20/diagnosis
https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome
https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/538/acute-promyelocytic-leukemia
https://rarediseases.info.nih.gov/diseases/538/acute-promyelocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5388/transient-tyrosinemia-of-the-newborn
https://rarediseases.info.nih.gov/diseases/5388/transient-tyrosinemia-of-the-newborn/diagnosis
https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency
https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5394/ulbright-hodes-syndrome
https://rarediseases.info.nih.gov/diseases/5394/ulbright-hodes-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis
https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/5398/ulna-hypoplasia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/5398/ulna-hypoplasia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/54/duodenal-atresia
https://rarediseases.info.nih.gov/diseases/54/duodenal-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5400/ulnar-hypoplasia-split-foot-syndrome
https://rarediseases.info.nih.gov/diseases/5400/ulnar-hypoplasia-split-foot-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5403/umbilical-cord-ulceration-intestinal-atresia-syndrome
https://rarediseases.info.nih.gov/diseases/5403/umbilical-cord-ulceration-intestinal-atresia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome
https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5406/chromosome-10-uniparental-disomy
https://rarediseases.info.nih.gov/diseases/5406/chromosome-10-uniparental-disomy/diagnosis
https://rarediseases.info.nih.gov/diseases/5408/17q11-microdeletion-syndrome
https://rarediseases.info.nih.gov/diseases/5408/17q11-microdeletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5409/kagami-ogata-syndrome-due-to-paternal-uniparental-disomy-of-chromosome-14
https://rarediseases.info.nih.gov/diseases/5409/kagami-ogata-syndrome-due-to-paternal-uniparental-disomy-of-chromosome-14/diagnosis
https://rarediseases.info.nih.gov/diseases/5421/upington-disease
https://rarediseases.info.nih.gov/diseases/5421/upington-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5425/urachal-cyst
https://rarediseases.info.nih.gov/diseases/5425/urachal-cyst/diagnosis
https://rarediseases.info.nih.gov/diseases/5426/urban-rogers-meyer-syndrome
https://rarediseases.info.nih.gov/diseases/5426/urban-rogers-meyer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia
https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5428/urethral-obstruction-sequence
https://rarediseases.info.nih.gov/diseases/5428/urethral-obstruction-sequence/diagnosis
https://rarediseases.info.nih.gov/diseases/5429/hereditary-orotic-aciduria
https://rarediseases.info.nih.gov/diseases/5429/hereditary-orotic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/5430/mllerian-derivatives-lymphangiectasia-polydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/5430/mllerian-derivatives-lymphangiectasia-polydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5435/usher-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/5435/usher-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/5440/usher-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/5440/usher-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/5442/usher-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/5442/usher-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/5443/vacterlvater-association
https://rarediseases.info.nih.gov/diseases/5443/vacterlvater-association/diagnosis
https://rarediseases.info.nih.gov/diseases/5445/mayer-rokitansky-kster-hauser-syndrome
https://rarediseases.info.nih.gov/diseases/5445/mayer-rokitansky-kster-hauser-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-spectrum-disorder
https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-spectrum-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome
https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5456/cerebrofacioarticular-syndrome
https://rarediseases.info.nih.gov/diseases/5456/cerebrofacioarticular-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/546/adenine-phosphoribosyltransferase-deficiency
https://rarediseases.info.nih.gov/diseases/546/adenine-phosphoribosyltransferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5461/congenital-bilateral-absence-of-vas-deferens
https://rarediseases.info.nih.gov/diseases/5461/congenital-bilateral-absence-of-vas-deferens/diagnosis
https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysmal-malformation
https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysmal-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/5469/velo-facial-skeletal-syndrome
https://rarediseases.info.nih.gov/diseases/5469/velo-facial-skeletal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-deficiency
https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5470/congenital-velopharyngeal-incompetence
https://rarediseases.info.nih.gov/diseases/5470/congenital-velopharyngeal-incompetence/diagnosis
https://rarediseases.info.nih.gov/diseases/5472/ventricular-extrasystoles-with-syncopal-episodes-perodactyly-robin-sequence-syndrome
https://rarediseases.info.nih.gov/diseases/5472/ventricular-extrasystoles-with-syncopal-episodes-perodactyly-robin-sequence-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5476/congenitally-uncorrected-transposition-of-the-great-arteries
https://rarediseases.info.nih.gov/diseases/5476/congenitally-uncorrected-transposition-of-the-great-arteries/diagnosis
https://rarediseases.info.nih.gov/diseases/5478/brachyolmia-amelogenesis-imperfecta-syndrome
https://rarediseases.info.nih.gov/diseases/5478/brachyolmia-amelogenesis-imperfecta-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency
https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5481/microspherophakia-metaphyseal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/5481/microspherophakia-metaphyseal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome
https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5484/inflammatory-linear-verrucous-epidermal-nevus
https://rarediseases.info.nih.gov/diseases/5484/inflammatory-linear-verrucous-epidermal-nevus/diagnosis
https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus
https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus/diagnosis
https://rarediseases.info.nih.gov/diseases/5490/microcephaly-brachydactyly-kyphoscoliosis-syndrome
https://rarediseases.info.nih.gov/diseases/5490/microcephaly-brachydactyly-kyphoscoliosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/5495/malignant-sertoli-leydig-cell-tumor-of-the-ovary
https://rarediseases.info.nih.gov/diseases/5495/malignant-sertoli-leydig-cell-tumor-of-the-ovary/diagnosis
https://rarediseases.info.nih.gov/diseases/5496/oculogastrointestinal-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/5496/oculogastrointestinal-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/550/adenylosuccinate-lyase-deficiency
https://rarediseases.info.nih.gov/diseases/550/adenylosuccinate-lyase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration
https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/5507/autosomal-dominant-vitreoretinochoroidopathy
https://rarediseases.info.nih.gov/diseases/5507/autosomal-dominant-vitreoretinochoroidopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/5508/very-long-chain-acyl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/5508/very-long-chain-acyl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5509/laryngeal-abductor-paralysis
https://rarediseases.info.nih.gov/diseases/5509/laryngeal-abductor-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/5513/mayer-rokitansky-kster-hauser-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/5513/mayer-rokitansky-kster-hauser-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/5518/hydrocephalus-costovertebral-dysplasia-sprengel-anomaly-syndrome
https://rarediseases.info.nih.gov/diseases/5518/hydrocephalus-costovertebral-dysplasia-sprengel-anomaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/5524/waardenburg-shah-syndrome
https://rarediseases.info.nih.gov/diseases/5524/waardenburg-shah-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5525/waardenburg-syndrome
https://rarediseases.info.nih.gov/diseases/5525/waardenburg-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome
https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5530/aniridia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/5530/aniridia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome
https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5534/micro-syndrome
https://rarediseases.info.nih.gov/diseases/5534/micro-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5535/deaf-blind-hypopigmentation-syndrome-yemenite-type
https://rarediseases.info.nih.gov/diseases/5535/deaf-blind-hypopigmentation-syndrome-yemenite-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5538/craniosynostosis-boston-type
https://rarediseases.info.nih.gov/diseases/5538/craniosynostosis-boston-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5539/acromelic-frontonasal-dysplasia
https://rarediseases.info.nih.gov/diseases/5539/acromelic-frontonasal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5545/weaver-williams-syndrome
https://rarediseases.info.nih.gov/diseases/5545/weaver-williams-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/555/x-linked-adrenal-hypoplasia-congenita
https://rarediseases.info.nih.gov/diseases/555/x-linked-adrenal-hypoplasia-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/5552/distal-myopathy-welander-type
https://rarediseases.info.nih.gov/diseases/5552/distal-myopathy-welander-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5554/cataract-aberrant-oral-frenula-growth-delay-syndrome
https://rarediseases.info.nih.gov/diseases/5554/cataract-aberrant-oral-frenula-growth-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5555/spastic-paraparesis-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/5555/spastic-paraparesis-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5562/osteopathia-striata-pigmentary-dermopathy-white-forelock-syndrome
https://rarediseases.info.nih.gov/diseases/5562/osteopathia-striata-pigmentary-dermopathy-white-forelock-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome
https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5566/wiedemann-oldigs-oppermann-syndrome
https://rarediseases.info.nih.gov/diseases/5566/wiedemann-oldigs-oppermann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome
https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome
https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome
https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5576/denys-drash-syndrome
https://rarediseases.info.nih.gov/diseases/5576/denys-drash-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome
https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/558/adrenocortical-carcinoma
https://rarediseases.info.nih.gov/diseases/558/adrenocortical-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome
https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5587/hypodontia-dysplasia-of-nails-syndrome
https://rarediseases.info.nih.gov/diseases/5587/hypodontia-dysplasia-of-nails-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5589/wolcott-rallison-syndrome
https://rarediseases.info.nih.gov/diseases/5589/wolcott-rallison-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome
https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-restriction-with-increased-mitomycin-c-sensitivity
https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-restriction-with-increased-mitomycin-c-sensitivity/diagnosis
https://rarediseases.info.nih.gov/diseases/5594/woolly-hair-hypotrichosis-everted-lower-lip-and-outstanding-ears
https://rarediseases.info.nih.gov/diseases/5594/woolly-hair-hypotrichosis-everted-lower-lip-and-outstanding-ears/diagnosis
https://rarediseases.info.nih.gov/diseases/5595/carvajal-syndrome
https://rarediseases.info.nih.gov/diseases/5595/carvajal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5597/woolly-hair
https://rarediseases.info.nih.gov/diseases/5597/woolly-hair/diagnosis
https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome
https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5611/severe-x-linked-intellectual-disability-gustavson-type
https://rarediseases.info.nih.gov/diseases/5611/severe-x-linked-intellectual-disability-gustavson-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5613/intellectual-developmental-disorder-x-linked-63
https://rarediseases.info.nih.gov/diseases/5613/intellectual-developmental-disorder-x-linked-63/diagnosis
https://rarediseases.info.nih.gov/diseases/5614/intellectual-developmental-disorder-x-linked-29
https://rarediseases.info.nih.gov/diseases/5614/intellectual-developmental-disorder-x-linked-29/diagnosis
https://rarediseases.info.nih.gov/diseases/5615/x-linked-intellectual-disability-snyder-type
https://rarediseases.info.nih.gov/diseases/5615/x-linked-intellectual-disability-snyder-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome
https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5618/t-b-severe-combined-immunodeficiency-due-to-gamma-chain-deficiency
https://rarediseases.info.nih.gov/diseases/5618/t-b-severe-combined-immunodeficiency-due-to-gamma-chain-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/562/adrenomyodystrophy
https://rarediseases.info.nih.gov/diseases/562/adrenomyodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-ii
https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/5621/xanthinuria-type-i
https://rarediseases.info.nih.gov/diseases/5621/xanthinuria-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis
https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5623/dehydrated-hereditary-stomatocytosis
https://rarediseases.info.nih.gov/diseases/5623/dehydrated-hereditary-stomatocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant
https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant/diagnosis
https://rarediseases.info.nih.gov/diseases/5642/aase-smith-syndrome
https://rarediseases.info.nih.gov/diseases/5642/aase-smith-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy
https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-1e
https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-1e/diagnosis
https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy
https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma
https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5654/alveolar-soft-tissue-sarcoma
https://rarediseases.info.nih.gov/diseases/5654/alveolar-soft-tissue-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5657/pfapa-syndrome
https://rarediseases.info.nih.gov/diseases/5657/pfapa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5658/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency
https://rarediseases.info.nih.gov/diseases/5658/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5659/46xy-disorder-of-sex-development-due-to-17-beta-hydroxysteroid-dehydrogenase-3-deficiency
https://rarediseases.info.nih.gov/diseases/5659/46xy-disorder-of-sex-development-due-to-17-beta-hydroxysteroid-dehydrogenase-3-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency
https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5661/d-2-hydroxyglutaric-aciduria
https://rarediseases.info.nih.gov/diseases/5661/d-2-hydroxyglutaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria
https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/5663/3-methylglutaconic-aciduria-type-3
https://rarediseases.info.nih.gov/diseases/5663/3-methylglutaconic-aciduria-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/5666/3c-syndrome
https://rarediseases.info.nih.gov/diseases/5666/3c-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5667/3m-syndrome
https://rarediseases.info.nih.gov/diseases/5667/3m-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria
https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/5671/46xx-gonadal-dysgenesis
https://rarediseases.info.nih.gov/diseases/5671/46xx-gonadal-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/5672/trisomy-x
https://rarediseases.info.nih.gov/diseases/5672/trisomy-x/diagnosis
https://rarediseases.info.nih.gov/diseases/5674/47xyy-syndrome
https://rarediseases.info.nih.gov/diseases/5674/47xyy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome
https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome
https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5678/pentasomy-x
https://rarediseases.info.nih.gov/diseases/5678/pentasomy-x/diagnosis
https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome
https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5680/46xy-disorder-of-sex-development-due-to-5-alpha-reductase-2-deficiency
https://rarediseases.info.nih.gov/diseases/5680/46xy-disorder-of-sex-development-due-to-5-alpha-reductase-2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5681/5-oxoprolinase-deficiency
https://rarediseases.info.nih.gov/diseases/5681/5-oxoprolinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5682/6-pyruvoyl-tetrahydropterin-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/5682/6-pyruvoyl-tetrahydropterin-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome
https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5686/glycogen-storage-disease-due-to-muscle-phosphofructokinase-deficiency
https://rarediseases.info.nih.gov/diseases/5686/glycogen-storage-disease-due-to-muscle-phosphofructokinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome
https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5691/refsum-disease
https://rarediseases.info.nih.gov/diseases/5691/refsum-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome
https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis
https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis/diagnosis
https://rarediseases.info.nih.gov/diseases/5694/retinitis-pigmentosa
https://rarediseases.info.nih.gov/diseases/5694/retinitis-pigmentosa/diagnosis
https://rarediseases.info.nih.gov/diseases/5695/retinopathy-of-prematurity
https://rarediseases.info.nih.gov/diseases/5695/retinopathy-of-prematurity/diagnosis
https://rarediseases.info.nih.gov/diseases/5696/rett-syndrome
https://rarediseases.info.nih.gov/diseases/5696/rett-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5697/fibrosclerosis-multifocal
https://rarediseases.info.nih.gov/diseases/5697/fibrosclerosis-multifocal/diagnosis
https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever
https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/5700/rickets
https://rarediseases.info.nih.gov/diseases/5700/rickets/diagnosis
https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome
https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5708/idiopathic-achalasia
https://rarediseases.info.nih.gov/diseases/5708/idiopathic-achalasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5714/glycogen-storage-disease-due-to-acid-maltase-deficiency
https://rarediseases.info.nih.gov/diseases/5714/glycogen-storage-disease-due-to-acid-maltase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis
https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5721/acrocallosal-syndrome
https://rarediseases.info.nih.gov/diseases/5721/acrocallosal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica
https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica/diagnosis
https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis
https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5725/acromegaly
https://rarediseases.info.nih.gov/diseases/5725/acromegaly/diagnosis
https://rarediseases.info.nih.gov/diseases/5727/congenital-isolated-acth-deficiency
https://rarediseases.info.nih.gov/diseases/5727/congenital-isolated-acth-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5728/actinomycosis
https://rarediseases.info.nih.gov/diseases/5728/actinomycosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5732/acute-intermittent-porphyria
https://rarediseases.info.nih.gov/diseases/5732/acute-intermittent-porphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome
https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5740/addison-disease
https://rarediseases.info.nih.gov/diseases/5740/addison-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5743/adenoid-cystic-carcinoma
https://rarediseases.info.nih.gov/diseases/5743/adenoid-cystic-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5747/ameloblastoma
https://rarediseases.info.nih.gov/diseases/5747/ameloblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5748/severe-combined-immunodeficiency-due-to-adenosine-deaminase-deficiency
https://rarediseases.info.nih.gov/diseases/5748/severe-combined-immunodeficiency-due-to-adenosine-deaminase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5749/holmes-adie-syndrome
https://rarediseases.info.nih.gov/diseases/5749/holmes-adie-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/575/aicardi-goutires-syndrome
https://rarediseases.info.nih.gov/diseases/575/aicardi-goutires-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa
https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa/diagnosis
https://rarediseases.info.nih.gov/diseases/5751/adrenal-cancer
https://rarediseases.info.nih.gov/diseases/5751/adrenal-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer
https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy
https://rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/5761/familial-afibrinogenemia
https://rarediseases.info.nih.gov/diseases/5761/familial-afibrinogenemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome
https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5768/albinism
https://rarediseases.info.nih.gov/diseases/5768/albinism/diagnosis
https://rarediseases.info.nih.gov/diseases/5774/alexander-disease
https://rarediseases.info.nih.gov/diseases/5774/alexander-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria
https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria/diagnosis
https://rarediseases.info.nih.gov/diseases/5782/alopecia-areata
https://rarediseases.info.nih.gov/diseases/5782/alopecia-areata/diagnosis
https://rarediseases.info.nih.gov/diseases/5783/alpers-huttenlocher-syndrome
https://rarediseases.info.nih.gov/diseases/5783/alpers-huttenlocher-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency
https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/5785/alport-syndrome
https://rarediseases.info.nih.gov/diseases/5785/alport-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5786/amyotrophic-lateral-sclerosis
https://rarediseases.info.nih.gov/diseases/5786/amyotrophic-lateral-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5787/alstrm-syndrome
https://rarediseases.info.nih.gov/diseases/5787/alstrm-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta
https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta/diagnosis
https://rarediseases.info.nih.gov/diseases/5797/al-amyloidosis
https://rarediseases.info.nih.gov/diseases/5797/al-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5798/amyotonia-congenita
https://rarediseases.info.nih.gov/diseases/5798/amyotonia-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/5802/otopalatodigital-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/5802/otopalatodigital-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome
https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5808/isolated-anencephalyexencephaly
https://rarediseases.info.nih.gov/diseases/5808/isolated-anencephalyexencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/5810/angelman-syndrome
https://rarediseases.info.nih.gov/diseases/5810/angelman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver
https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver/diagnosis
https://rarediseases.info.nih.gov/diseases/5816/isolated-aniridia
https://rarediseases.info.nih.gov/diseases/5816/isolated-aniridia/diagnosis
https://rarediseases.info.nih.gov/diseases/5818/anodontia
https://rarediseases.info.nih.gov/diseases/5818/anodontia/diagnosis
https://rarediseases.info.nih.gov/diseases/5819/testicular-agenesis
https://rarediseases.info.nih.gov/diseases/5819/testicular-agenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/5824/antiphospholipid-syndrome
https://rarediseases.info.nih.gov/diseases/5824/antiphospholipid-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome
https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5828/aorta-coarctation
https://rarediseases.info.nih.gov/diseases/5828/aorta-coarctation/diagnosis
https://rarediseases.info.nih.gov/diseases/583/short-stature-webbed-neck-heart-disease-syndrome
https://rarediseases.info.nih.gov/diseases/583/short-stature-webbed-neck-heart-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis
https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5833/apert-syndrome
https://rarediseases.info.nih.gov/diseases/5833/apert-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5835/aplasia-cutis-congenita
https://rarediseases.info.nih.gov/diseases/5835/aplasia-cutis-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/5839/arachnoiditis
https://rarediseases.info.nih.gov/diseases/5839/arachnoiditis/diagnosis
https://rarediseases.info.nih.gov/diseases/584/hirschsprung-disease-nail-hypoplasia-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/584/hirschsprung-disease-nail-hypoplasia-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5840/argininemia
https://rarediseases.info.nih.gov/diseases/5840/argininemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria
https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/5847/arrhythmogenic-right-ventricular-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/5847/arrhythmogenic-right-ventricular-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/5852/asbestos-intoxication
https://rarediseases.info.nih.gov/diseases/5852/asbestos-intoxication/diagnosis
https://rarediseases.info.nih.gov/diseases/5853/asherman-syndrome
https://rarediseases.info.nih.gov/diseases/5853/asherman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5854/aspartylglucosaminuria
https://rarediseases.info.nih.gov/diseases/5854/aspartylglucosaminuria/diagnosis
https://rarediseases.info.nih.gov/diseases/5856/aspergillosis
https://rarediseases.info.nih.gov/diseases/5856/aspergillosis/diagnosis
https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome
https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5860/anaplastic-astrocytoma
https://rarediseases.info.nih.gov/diseases/5860/anaplastic-astrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia
https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5865/atrial-septal-defect-ostium-secundum-type
https://rarediseases.info.nih.gov/diseases/5865/atrial-septal-defect-ostium-secundum-type/diagnosis
https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pasini-and-pierini
https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pasini-and-pierini/diagnosis
https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy
https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/587/osteogenesis-imperfecta-retinopathy-seizures-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/587/osteogenesis-imperfecta-retinopathy-seizures-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5870/autoimmune-hemolytic-anemia
https://rarediseases.info.nih.gov/diseases/5870/autoimmune-hemolytic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/5871/autoimmune-hepatitis
https://rarediseases.info.nih.gov/diseases/5871/autoimmune-hepatitis/diagnosis
https://rarediseases.info.nih.gov/diseases/5877/b-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/5877/b-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5878/babesiosis
https://rarediseases.info.nih.gov/diseases/5878/babesiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/588/alar-cartilages-hypoplasia-coloboma-telecanthus-syndrome
https://rarediseases.info.nih.gov/diseases/588/alar-cartilages-hypoplasia-coloboma-telecanthus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis
https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis/diagnosis
https://rarediseases.info.nih.gov/diseases/5885/bal-concentric-sclerosis
https://rarediseases.info.nih.gov/diseases/5885/bal-concentric-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome
https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome
https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome
https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome
https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5896/migraine-with-brainstem-aura
https://rarediseases.info.nih.gov/diseases/5896/migraine-with-brainstem-aura/diagnosis
https://rarediseases.info.nih.gov/diseases/5897/cln3-disease
https://rarediseases.info.nih.gov/diseases/5897/cln3-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5898/congenital-myopathy
https://rarediseases.info.nih.gov/diseases/5898/congenital-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/5899/congenital-contractural-arachnodactyly
https://rarediseases.info.nih.gov/diseases/5899/congenital-contractural-arachnodactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-type-34
https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-type-34/diagnosis
https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/5901/beckers-nevus
https://rarediseases.info.nih.gov/diseases/5901/beckers-nevus/diagnosis
https://rarediseases.info.nih.gov/diseases/5905/bejel
https://rarediseases.info.nih.gov/diseases/5905/bejel/diagnosis
https://rarediseases.info.nih.gov/diseases/5907/diffuse-astrocytoma
https://rarediseases.info.nih.gov/diseases/5907/diffuse-astrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5913/mucous-membrane-pemphigoid
https://rarediseases.info.nih.gov/diseases/5913/mucous-membrane-pemphigoid/diagnosis
https://rarediseases.info.nih.gov/diseases/592/ocular-albinism-with-late-onset-sensorineural-deafness
https://rarediseases.info.nih.gov/diseases/592/ocular-albinism-with-late-onset-sensorineural-deafness/diagnosis
https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer
https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy
https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome
https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b
https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b/diagnosis
https://rarediseases.info.nih.gov/diseases/5940/blue-rubber-bleb-nevus
https://rarediseases.info.nih.gov/diseases/5940/blue-rubber-bleb-nevus/diagnosis
https://rarediseases.info.nih.gov/diseases/5948/bowens-disease
https://rarediseases.info.nih.gov/diseases/5948/bowens-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome
https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis
https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5961/bronchiolitis-obliterans-with-obstructive-pulmonary-disease
https://rarediseases.info.nih.gov/diseases/5961/bronchiolitis-obliterans-with-obstructive-pulmonary-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia
https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/5966/brucellosis
https://rarediseases.info.nih.gov/diseases/5966/brucellosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome
https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5969/buerger-disease
https://rarediseases.info.nih.gov/diseases/5969/buerger-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5972/bullous-pemphigoid
https://rarediseases.info.nih.gov/diseases/5972/bullous-pemphigoid/diagnosis
https://rarediseases.info.nih.gov/diseases/5973/burkitt-lymphoma
https://rarediseases.info.nih.gov/diseases/5973/burkitt-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/5974/burning-mouth-syndrome
https://rarediseases.info.nih.gov/diseases/5974/burning-mouth-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5975/scleredema
https://rarediseases.info.nih.gov/diseases/5975/scleredema/diagnosis
https://rarediseases.info.nih.gov/diseases/5976/byssinosis
https://rarediseases.info.nih.gov/diseases/5976/byssinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/5978/c-syndrome
https://rarediseases.info.nih.gov/diseases/5978/c-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/5979/hereditary-angioedema
https://rarediseases.info.nih.gov/diseases/5979/hereditary-angioedema/diagnosis
https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis
https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis/diagnosis
https://rarediseases.info.nih.gov/diseases/5984/canavan-disease
https://rarediseases.info.nih.gov/diseases/5984/canavan-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome
https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6/acromesomelic-dysplasia
https://rarediseases.info.nih.gov/diseases/6/acromesomelic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/60/iridocorneal-endothelial-syndrome
https://rarediseases.info.nih.gov/diseases/60/iridocorneal-endothelial-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/600/glycogen-storage-disease-due-to-aldolase-a-deficiency
https://rarediseases.info.nih.gov/diseases/600/glycogen-storage-disease-due-to-aldolase-a-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6001/carnosinase-deficiency
https://rarediseases.info.nih.gov/diseases/6001/carnosinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6002/caroli-disease
https://rarediseases.info.nih.gov/diseases/6002/caroli-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6003/carpenter-syndrome
https://rarediseases.info.nih.gov/diseases/6003/carpenter-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer
https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/6005/unicentric-castleman-disease
https://rarediseases.info.nih.gov/diseases/6005/unicentric-castleman-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6007/caudal-regression-syndrome
https://rarediseases.info.nih.gov/diseases/6007/caudal-regression-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6010/macrocystic-lymphatic-malformation
https://rarediseases.info.nih.gov/diseases/6010/macrocystic-lymphatic-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/6011/bilateral-perisylvian-polymicrogyria
https://rarediseases.info.nih.gov/diseases/6011/bilateral-perisylvian-polymicrogyria/diagnosis
https://rarediseases.info.nih.gov/diseases/6014/central-core-disease
https://rarediseases.info.nih.gov/diseases/6014/central-core-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6015/central-diabetes-insipidus
https://rarediseases.info.nih.gov/diseases/6015/central-diabetes-insipidus/diagnosis
https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis
https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6026/cerebrocostomandibular-syndrome
https://rarediseases.info.nih.gov/diseases/6026/cerebrocostomandibular-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6027/cofs-syndrome
https://rarediseases.info.nih.gov/diseases/6027/cofs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6033/chandler-syndrome
https://rarediseases.info.nih.gov/diseases/6033/chandler-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6034/charcot-marie-tooth-diseasehereditary-motor-and-sensory-neuropathy
https://rarediseases.info.nih.gov/diseases/6034/charcot-marie-tooth-diseasehereditary-motor-and-sensory-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/6035/chdiak-higashi-syndrome
https://rarediseases.info.nih.gov/diseases/6035/chdiak-higashi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6036/cherubism
https://rarediseases.info.nih.gov/diseases/6036/cherubism/diagnosis
https://rarediseases.info.nih.gov/diseases/6037/chiari-frommel-syndrome
https://rarediseases.info.nih.gov/diseases/6037/chiari-frommel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6038/chikungunya
https://rarediseases.info.nih.gov/diseases/6038/chikungunya/diagnosis
https://rarediseases.info.nih.gov/diseases/6039/child-syndrome
https://rarediseases.info.nih.gov/diseases/6039/child-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia
https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia/diagnosis
https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder
https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma
https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6043/cholera
https://rarediseases.info.nih.gov/diseases/6043/cholera/diagnosis
https://rarediseases.info.nih.gov/diseases/6047/chondroblastoma
https://rarediseases.info.nih.gov/diseases/6047/chondroblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6048/chondrocalcinosis-1
https://rarediseases.info.nih.gov/diseases/6048/chondrocalcinosis-1/diagnosis
https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1
https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6055/chondrosarcoma
https://rarediseases.info.nih.gov/diseases/6055/chondrosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6059/choriocarcinoma
https://rarediseases.info.nih.gov/diseases/6059/choriocarcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/606/moynahan-syndrome
https://rarediseases.info.nih.gov/diseases/606/moynahan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6060/chorioretinitis
https://rarediseases.info.nih.gov/diseases/6060/chorioretinitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6061/choroideremia
https://rarediseases.info.nih.gov/diseases/6061/choroideremia/diagnosis
https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma
https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6065/chromosomal-triplication
https://rarediseases.info.nih.gov/diseases/6065/chromosomal-triplication/diagnosis
https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13-syndrome
https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/607/alopecia-epilepsy-pyorrhea-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/607/alopecia-epilepsy-pyorrhea-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14-syndrome
https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18-syndrome
https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6082/1p36-deletion-syndrome
https://rarediseases.info.nih.gov/diseases/6082/1p36-deletion-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21-syndrome
https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22
https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22/diagnosis
https://rarediseases.info.nih.gov/diseases/6091/trisomy-4p
https://rarediseases.info.nih.gov/diseases/6091/trisomy-4p/diagnosis
https://rarediseases.info.nih.gov/diseases/6093/trisomy-5p
https://rarediseases.info.nih.gov/diseases/6093/trisomy-5p/diagnosis
https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6-syndrome
https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome
https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease
https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6102/chronic-inflammatory-demyelinating-polyneuropathy
https://rarediseases.info.nih.gov/diseases/6102/chronic-inflammatory-demyelinating-polyneuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/6104/b-cell-chronic-lymphocytic-leukemia
https://rarediseases.info.nih.gov/diseases/6104/b-cell-chronic-lymphocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6105/chronic-myeloid-leukemia
https://rarediseases.info.nih.gov/diseases/6105/chronic-myeloid-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia
https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia/diagnosis
https://rarediseases.info.nih.gov/diseases/6108/chronic-nonbacterial-osteomyelitischronic-recurrent-multifocal-osteomyelitis
https://rarediseases.info.nih.gov/diseases/6108/chronic-nonbacterial-osteomyelitischronic-recurrent-multifocal-osteomyelitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6111/eosinophilic-granulomatosis-with-polyangiitis
https://rarediseases.info.nih.gov/diseases/6111/eosinophilic-granulomatosis-with-polyangiitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6114/citrullinemia-type-i
https://rarediseases.info.nih.gov/diseases/6114/citrullinemia-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia
https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/612/alopecia-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/612/alopecia-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6121/coats-disease
https://rarediseases.info.nih.gov/diseases/6121/coats-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6122/cockayne-syndrome
https://rarediseases.info.nih.gov/diseases/6122/cockayne-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome
https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6124/coffin-siris-syndrome
https://rarediseases.info.nih.gov/diseases/6124/coffin-siris-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome
https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome
https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/613/alopecia-totalis
https://rarediseases.info.nih.gov/diseases/613/alopecia-totalis/diagnosis
https://rarediseases.info.nih.gov/diseases/6130/cold-agglutinin-disease
https://rarediseases.info.nih.gov/diseases/6130/cold-agglutinin-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis
https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis/diagnosis
https://rarediseases.info.nih.gov/diseases/6140/common-variable-immunodeficiency
https://rarediseases.info.nih.gov/diseases/6140/common-variable-immunodeficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome
https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6145/cone-rod-dystrophy-2
https://rarediseases.info.nih.gov/diseases/6145/cone-rod-dystrophy-2/diagnosis
https://rarediseases.info.nih.gov/diseases/6148/hereditary-thrombophilia-due-to-congenital-antithrombin-deficiency
https://rarediseases.info.nih.gov/diseases/6148/hereditary-thrombophilia-due-to-congenital-antithrombin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo
https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo/diagnosis
https://rarediseases.info.nih.gov/diseases/6161/congenital-fiber-type-disproportion-myopathy
https://rarediseases.info.nih.gov/diseases/6161/congenital-fiber-type-disproportion-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block
https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block/diagnosis
https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia
https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6168/polycystic-kidney-disease-4-with-or-without-polycystic-liver-disease
https://rarediseases.info.nih.gov/diseases/6168/polycystic-kidney-disease-4-with-or-without-polycystic-liver-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6169/hepatoerythropoietic-porphyria
https://rarediseases.info.nih.gov/diseases/6169/hepatoerythropoietic-porphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/617/oxoglutaric-aciduria
https://rarediseases.info.nih.gov/diseases/617/oxoglutaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/6187/ligneous-conjunctivitis
https://rarediseases.info.nih.gov/diseases/6187/ligneous-conjunctivitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6189/x-linked-dominant-chondrodysplasia-punctata
https://rarediseases.info.nih.gov/diseases/6189/x-linked-dominant-chondrodysplasia-punctata/diagnosis
https://rarediseases.info.nih.gov/diseases/6194/triatrial-heart
https://rarediseases.info.nih.gov/diseases/6194/triatrial-heart/diagnosis
https://rarediseases.info.nih.gov/diseases/6196/congenital-hereditary-endothelial-dystrophy-type-ii
https://rarediseases.info.nih.gov/diseases/6196/congenital-hereditary-endothelial-dystrophy-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/62/filippi-syndrome
https://rarediseases.info.nih.gov/diseases/62/filippi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6202/cowden-syndrome
https://rarediseases.info.nih.gov/diseases/6202/cowden-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6205/cramp-fasciculation-syndrome
https://rarediseases.info.nih.gov/diseases/6205/cramp-fasciculation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome
https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6209/craniosynostosis
https://rarediseases.info.nih.gov/diseases/6209/craniosynostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/621/alpha-thalassemia
https://rarediseases.info.nih.gov/diseases/621/alpha-thalassemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6213/monosomy-5p
https://rarediseases.info.nih.gov/diseases/6213/monosomy-5p/diagnosis
https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis
https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6224/cushing-syndrome
https://rarediseases.info.nih.gov/diseases/6224/cushing-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6225/rare-cutaneous-lupus-erythematosus
https://rarediseases.info.nih.gov/diseases/6225/rare-cutaneous-lupus-erythematosus/diagnosis
https://rarediseases.info.nih.gov/diseases/6226/primary-cutaneous-t-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/6226/primary-cutaneous-t-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa
https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa/diagnosis
https://rarediseases.info.nih.gov/diseases/6228/cutis-marmorata-telangiectatica-congenita
https://rarediseases.info.nih.gov/diseases/6228/cutis-marmorata-telangiectatica-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia
https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia/diagnosis
https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis
https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6234/cystic-hygroma
https://rarediseases.info.nih.gov/diseases/6234/cystic-hygroma/diagnosis
https://rarediseases.info.nih.gov/diseases/6236/cystinosis
https://rarediseases.info.nih.gov/diseases/6236/cystinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6237/cystinuria
https://rarediseases.info.nih.gov/diseases/6237/cystinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome
https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6242/isolated-dandy-walker-malformation
https://rarediseases.info.nih.gov/diseases/6242/isolated-dandy-walker-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/6243/darier-disease
https://rarediseases.info.nih.gov/diseases/6243/darier-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6249/malignant-atrophic-papulosis
https://rarediseases.info.nih.gov/diseases/6249/malignant-atrophic-papulosis/diagnosis
https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome
https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6254/dengue-fever
https://rarediseases.info.nih.gov/diseases/6254/dengue-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/6258/dentinogenesis-imperfecta
https://rarediseases.info.nih.gov/diseases/6258/dentinogenesis-imperfecta/diagnosis
https://rarediseases.info.nih.gov/diseases/6263/dermatomyositis
https://rarediseases.info.nih.gov/diseases/6263/dermatomyositis/diagnosis
https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor
https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica-spectrum-disorder
https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica-spectrum-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/6274/blackfan-diamond-anemia
https://rarediseases.info.nih.gov/diseases/6274/blackfan-diamond-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6275/diastrophic-dysplasia
https://rarediseases.info.nih.gov/diseases/6275/diastrophic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome
https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis
https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/6288/duane-retraction-syndrome
https://rarediseases.info.nih.gov/diseases/6288/duane-retraction-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome
https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/6295/dyggve-melchior-clausen-disease
https://rarediseases.info.nih.gov/diseases/6295/dyggve-melchior-clausen-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant-1
https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant-1/diagnosis
https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive-1
https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive-1/diagnosis
https://rarediseases.info.nih.gov/diseases/6308/autosomal-recessive-generalized-dystrophic-epidermolysis-bullosa-severe-form
https://rarediseases.info.nih.gov/diseases/6308/autosomal-recessive-generalized-dystrophic-epidermolysis-bullosa-severe-form/diagnosis
https://rarediseases.info.nih.gov/diseases/6309/eales-disease
https://rarediseases.info.nih.gov/diseases/6309/eales-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6313/ebstein-malformation-of-the-tricuspid-valve
https://rarediseases.info.nih.gov/diseases/6313/ebstein-malformation-of-the-tricuspid-valve/diagnosis
https://rarediseases.info.nih.gov/diseases/6317/ectodermal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/6317/ectodermal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6319/isolated-split-hand-split-foot-malformation
https://rarediseases.info.nih.gov/diseases/6319/isolated-split-hand-split-foot-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/6321/trisomy-18
https://rarediseases.info.nih.gov/diseases/6321/trisomy-18/diagnosis
https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome
https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6329/emery-dreifuss-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/6329/emery-dreifuss-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica
https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica/diagnosis
https://rarediseases.info.nih.gov/diseases/6333/isolated-encephalocele
https://rarediseases.info.nih.gov/diseases/6333/isolated-encephalocele/diagnosis
https://rarediseases.info.nih.gov/diseases/6335/enchondroma
https://rarediseases.info.nih.gov/diseases/6335/enchondroma/diagnosis
https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis
https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis
https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis/diagnosis
https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma
https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis
https://rarediseases.info.nih.gov/diseases/634/leber-congenital-amaurosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis
https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6343/enteropathica
https://rarediseases.info.nih.gov/diseases/6343/enteropathica/diagnosis
https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome
https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6351/eosinophilic-fasciitis
https://rarediseases.info.nih.gov/diseases/6351/eosinophilic-fasciitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6352/embryonal-tumor-with-multilayered-rosettes
https://rarediseases.info.nih.gov/diseases/6352/embryonal-tumor-with-multilayered-rosettes/diagnosis
https://rarediseases.info.nih.gov/diseases/6353/ependymoma
https://rarediseases.info.nih.gov/diseases/6353/ependymoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis
https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis
https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis/diagnosis
https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa
https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa/diagnosis
https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2
https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2/diagnosis
https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita
https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita/diagnosis
https://rarediseases.info.nih.gov/diseases/6369/erdheim-chester-disease
https://rarediseases.info.nih.gov/diseases/6369/erdheim-chester-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/637/amaurosis-hypertrichosis-syndrome
https://rarediseases.info.nih.gov/diseases/637/amaurosis-hypertrichosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6377/primary-erythromelalgia
https://rarediseases.info.nih.gov/diseases/6377/primary-erythromelalgia/diagnosis
https://rarediseases.info.nih.gov/diseases/6381/esophageal-atresia
https://rarediseases.info.nih.gov/diseases/6381/esophageal-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/6383/carcinoma-of-esophagus
https://rarediseases.info.nih.gov/diseases/6383/carcinoma-of-esophagus/diagnosis
https://rarediseases.info.nih.gov/diseases/6386/cryoglobulinemic-vasculitis
https://rarediseases.info.nih.gov/diseases/6386/cryoglobulinemic-vasculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome
https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6390/skeletal-ewing-sarcoma
https://rarediseases.info.nih.gov/diseases/6390/skeletal-ewing-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis
https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis/diagnosis
https://rarediseases.info.nih.gov/diseases/6398/bladder-exstrophy
https://rarediseases.info.nih.gov/diseases/6398/bladder-exstrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome
https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia
https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/6400/fabry-disease
https://rarediseases.info.nih.gov/diseases/6400/fabry-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6404/congenital-factor-x-deficiency
https://rarediseases.info.nih.gov/diseases/6404/congenital-factor-x-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6405/acquired-hemophilia-a
https://rarediseases.info.nih.gov/diseases/6405/acquired-hemophilia-a/diagnosis
https://rarediseases.info.nih.gov/diseases/6406/bilateral-striopallidodentate-calcinosis
https://rarediseases.info.nih.gov/diseases/6406/bilateral-striopallidodentate-calcinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6408/familial-adenomatous-polyposis
https://rarediseases.info.nih.gov/diseases/6408/familial-adenomatous-polyposis/diagnosis
https://rarediseases.info.nih.gov/diseases/6414/familial-chylomicronemia-syndrome
https://rarediseases.info.nih.gov/diseases/6414/familial-chylomicronemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6421/familial-mediterranean-fever
https://rarediseases.info.nih.gov/diseases/6421/familial-mediterranean-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/6425/fanconi-anemia
https://rarediseases.info.nih.gov/diseases/6425/fanconi-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6426/farber-disease
https://rarediseases.info.nih.gov/diseases/6426/farber-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6427/farmers-lung-disease
https://rarediseases.info.nih.gov/diseases/6427/farmers-lung-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia
https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia/diagnosis
https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome
https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6444/fibrous-dysplasia-of-bone
https://rarediseases.info.nih.gov/diseases/6444/fibrous-dysplasia-of-bone/diagnosis
https://rarediseases.info.nih.gov/diseases/6445/fibrodysplasia-ossificans-progressiva
https://rarediseases.info.nih.gov/diseases/6445/fibrodysplasia-ossificans-progressiva/diagnosis
https://rarediseases.info.nih.gov/diseases/6447/severe-primary-trimethylaminuria
https://rarediseases.info.nih.gov/diseases/6447/severe-primary-trimethylaminuria/diagnosis
https://rarediseases.info.nih.gov/diseases/645/hypoplastic-amelogenesis-imperfecta
https://rarediseases.info.nih.gov/diseases/645/hypoplastic-amelogenesis-imperfecta/diagnosis
https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease
https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome
https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6457/focal-dermal-hypoplasia
https://rarediseases.info.nih.gov/diseases/6457/focal-dermal-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6458/focal-task-specific-dystonia
https://rarediseases.info.nih.gov/diseases/6458/focal-task-specific-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/646/enamel-renal-syndrome
https://rarediseases.info.nih.gov/diseases/646/enamel-renal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome
https://rarediseases.info.nih.gov/diseases/6464/fragile-x-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome
https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6466/freeman-sheldon-syndrome
https://rarediseases.info.nih.gov/diseases/6466/freeman-sheldon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia
https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/647/amelo-onycho-hypohidrotic-syndrome
https://rarediseases.info.nih.gov/diseases/647/amelo-onycho-hypohidrotic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6471/essential-fructosuria
https://rarediseases.info.nih.gov/diseases/6471/essential-fructosuria/diagnosis
https://rarediseases.info.nih.gov/diseases/6473/fucosidosis
https://rarediseases.info.nih.gov/diseases/6473/fucosidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6475/congenital-muscular-dystrophy-fukuyama-type
https://rarediseases.info.nih.gov/diseases/6475/congenital-muscular-dystrophy-fukuyama-type/diagnosis
https://rarediseases.info.nih.gov/diseases/6476/fumaric-aciduria
https://rarediseases.info.nih.gov/diseases/6476/fumaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1
https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/6481/autoerythrocyte-sensitization-syndrome
https://rarediseases.info.nih.gov/diseases/6481/autoerythrocyte-sensitization-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6482/gardner-syndrome
https://rarediseases.info.nih.gov/diseases/6482/gardner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6485/malt-lymphoma
https://rarediseases.info.nih.gov/diseases/6485/malt-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis
https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis/diagnosis
https://rarediseases.info.nih.gov/diseases/6498/gestational-trophoblastic-neoplasm
https://rarediseases.info.nih.gov/diseases/6498/gestational-trophoblastic-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/65/galloway-mowat-syndrome
https://rarediseases.info.nih.gov/diseases/65/galloway-mowat-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6500/giant-axonal-neuropathy
https://rarediseases.info.nih.gov/diseases/6500/giant-axonal-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis
https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis/diagnosis
https://rarediseases.info.nih.gov/diseases/6506/pituitary-gigantism
https://rarediseases.info.nih.gov/diseases/6506/pituitary-gigantism/diagnosis
https://rarediseases.info.nih.gov/diseases/6509/fibromatosis-gingival-1
https://rarediseases.info.nih.gov/diseases/6509/fibromatosis-gingival-1/diagnosis
https://rarediseases.info.nih.gov/diseases/6513/glial-tumor
https://rarediseases.info.nih.gov/diseases/6513/glial-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri
https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri/diagnosis
https://rarediseases.info.nih.gov/diseases/6516/glomerulonephritis
https://rarediseases.info.nih.gov/diseases/6516/glomerulonephritis/diagnosis
https://rarediseases.info.nih.gov/diseases/6517/focal-segmental-glomerulosclerosis
https://rarediseases.info.nih.gov/diseases/6517/focal-segmental-glomerulosclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia
https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia/diagnosis
https://rarediseases.info.nih.gov/diseases/6520/class-i-glucose-6-phosphate-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/6520/class-i-glucose-6-phosphate-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption
https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption/diagnosis
https://rarediseases.info.nih.gov/diseases/6522/glutaryl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/6522/glutaryl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6523/multiple-acyl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/6523/multiple-acyl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-due-to-muscle-glycogen-phosphorylase-deficiency
https://rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-due-to-muscle-glycogen-phosphorylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6529/glycogen-storage-disease-due-to-liver-glycogen-phosphorylase-deficiency
https://rarediseases.info.nih.gov/diseases/6529/glycogen-storage-disease-due-to-liver-glycogen-phosphorylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/654/beta-mercaptolactate-cysteine-disulfiduria
https://rarediseases.info.nih.gov/diseases/654/beta-mercaptolactate-cysteine-disulfiduria/diagnosis
https://rarediseases.info.nih.gov/diseases/6542/gorham-stout-disease
https://rarediseases.info.nih.gov/diseases/6542/gorham-stout-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6543/acrogeria
https://rarediseases.info.nih.gov/diseases/6543/acrogeria/diagnosis
https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease
https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6545/granulocytopenia
https://rarediseases.info.nih.gov/diseases/6545/granulocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome
https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6552/growth-hormone-deficiency
https://rarediseases.info.nih.gov/diseases/6552/growth-hormone-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6554/guillain-barr-syndrome
https://rarediseases.info.nih.gov/diseases/6554/guillain-barr-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina
https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina/diagnosis
https://rarediseases.info.nih.gov/diseases/6558/congenital-factor-xii-deficiency
https://rarediseases.info.nih.gov/diseases/6558/congenital-factor-xii-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6559/familial-benign-chronic-pemphigus
https://rarediseases.info.nih.gov/diseases/6559/familial-benign-chronic-pemphigus/diagnosis
https://rarediseases.info.nih.gov/diseases/656/familial-transthyretin-amyloidosis
https://rarediseases.info.nih.gov/diseases/656/familial-transthyretin-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6560/classic-hairy-cell-leukemia
https://rarediseases.info.nih.gov/diseases/6560/classic-hairy-cell-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6564/pantothenate-kinase-associated-neurodegeneration
https://rarediseases.info.nih.gov/diseases/6564/pantothenate-kinase-associated-neurodegeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/6568/harlequin-ichthyosis
https://rarediseases.info.nih.gov/diseases/6568/harlequin-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease
https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6571/ankyloblepharon-ectodermal-defects-cleft-lippalate-syndrome
https://rarediseases.info.nih.gov/diseases/6571/ankyloblepharon-ectodermal-defects-cleft-lippalate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning
https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning/diagnosis
https://rarediseases.info.nih.gov/diseases/6584/sickle-cell-hemoglobin-c-disease-syndrome
https://rarediseases.info.nih.gov/diseases/6584/sickle-cell-hemoglobin-c-disease-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6589/familial-hemophagocytic-lymphohistiocytosis
https://rarediseases.info.nih.gov/diseases/6589/familial-hemophagocytic-lymphohistiocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6590/hemophagocytic-reticulosis
https://rarediseases.info.nih.gov/diseases/6590/hemophagocytic-reticulosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6591/hemophilia-a
https://rarediseases.info.nih.gov/diseases/6591/hemophilia-a/diagnosis
https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia
https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia/diagnosis
https://rarediseases.info.nih.gov/diseases/66/gorlin-chaudhry-moss-syndrome
https://rarediseases.info.nih.gov/diseases/66/gorlin-chaudhry-moss-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6608/adult-hepatocellular-carcinoma
https://rarediseases.info.nih.gov/diseases/6608/adult-hepatocellular-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis
https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6618/cln9-disease
https://rarediseases.info.nih.gov/diseases/6618/cln9-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria
https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/6621/hereditary-elliptocytosis
https://rarediseases.info.nih.gov/diseases/6621/hereditary-elliptocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6622/hereditary-fructose-intolerance
https://rarediseases.info.nih.gov/diseases/6622/hereditary-fructose-intolerance/diagnosis
https://rarediseases.info.nih.gov/diseases/6626/hereditary-hemorrhagic-telangiectasia
https://rarediseases.info.nih.gov/diseases/6626/hereditary-hemorrhagic-telangiectasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6632/hereditary-chronic-pancreatitis
https://rarediseases.info.nih.gov/diseases/6632/hereditary-chronic-pancreatitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6635/hereditary-sensory-and-autonomic-neuropathy-type-1
https://rarediseases.info.nih.gov/diseases/6635/hereditary-sensory-and-autonomic-neuropathy-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia
https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis
https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/664/anaplastic-thyroid-carcinoma
https://rarediseases.info.nih.gov/diseases/664/anaplastic-thyroid-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6643/hermansky-pudlak-syndrome
https://rarediseases.info.nih.gov/diseases/6643/hermansky-pudlak-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-virus-encephalitis
https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-virus-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccup
https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccup/diagnosis
https://rarediseases.info.nih.gov/diseases/6660/hirschsprung-disease
https://rarediseases.info.nih.gov/diseases/6660/hirschsprung-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6661/histidinemia
https://rarediseases.info.nih.gov/diseases/6661/histidinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly
https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/6666/holt-oram-syndrome
https://rarediseases.info.nih.gov/diseases/6666/holt-oram-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6667/classic-homocystinuria
https://rarediseases.info.nih.gov/diseases/6667/classic-homocystinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/6670/congenital-horner-syndrome
https://rarediseases.info.nih.gov/diseases/6670/congenital-horner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-2
https://rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/6677/huntington-disease
https://rarediseases.info.nih.gov/diseases/6677/huntington-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/668/x-linked-sideroblastic-anemia-and-spinocerebellar-ataxia
https://rarediseases.info.nih.gov/diseases/668/x-linked-sideroblastic-anemia-and-spinocerebellar-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/6681/hydranencephaly
https://rarediseases.info.nih.gov/diseases/6681/hydranencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/6682/congenital-hydrocephalus
https://rarediseases.info.nih.gov/diseases/6682/congenital-hydrocephalus/diagnosis
https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus
https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus/diagnosis
https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked
https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked/diagnosis
https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva
https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva/diagnosis
https://rarediseases.info.nih.gov/diseases/6703/dysbetalipoproteinemia
https://rarediseases.info.nih.gov/diseases/6703/dysbetalipoproteinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/6704/familial-apolipoprotein-a5-deficiency
https://rarediseases.info.nih.gov/diseases/6704/familial-apolipoprotein-a5-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/671/angel-shaped-phalango-epiphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/671/angel-shaped-phalango-epiphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2
https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia
https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis
https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis
https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism
https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/6734/hypophosphatasia
https://rarediseases.info.nih.gov/diseases/6734/hypophosphatasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets
https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets/diagnosis
https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked
https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked/diagnosis
https://rarediseases.info.nih.gov/diseases/6738/hypoplasia-of-the-tibia-with-polydactyly
https://rarediseases.info.nih.gov/diseases/6738/hypoplasia-of-the-tibia-with-polydactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/6739/hypoplastic-left-heart-syndrome
https://rarediseases.info.nih.gov/diseases/6739/hypoplastic-left-heart-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6749/mucolipidosis-type-ii
https://rarediseases.info.nih.gov/diseases/6749/mucolipidosis-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris
https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris/diagnosis
https://rarediseases.info.nih.gov/diseases/6755/idiopathic-alveolar-hypoventilation-syndrome
https://rarediseases.info.nih.gov/diseases/6755/idiopathic-alveolar-hypoventilation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6757/idiopathic-pulmonary-artery-dilatation
https://rarediseases.info.nih.gov/diseases/6757/idiopathic-pulmonary-artery-dilatation/diagnosis
https://rarediseases.info.nih.gov/diseases/676/hereditary-neurocutaneous-malformation
https://rarediseases.info.nih.gov/diseases/676/hereditary-neurocutaneous-malformation/diagnosis
https://rarediseases.info.nih.gov/diseases/6760/idiopathic-juvenile-osteoporosis
https://rarediseases.info.nih.gov/diseases/6760/idiopathic-juvenile-osteoporosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6763/idiopathic-pulmonary-hemosiderosis
https://rarediseases.info.nih.gov/diseases/6763/idiopathic-pulmonary-hemosiderosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6769/imperforate-anus
https://rarediseases.info.nih.gov/diseases/6769/imperforate-anus/diagnosis
https://rarediseases.info.nih.gov/diseases/6770/inborn-amino-acid-metabolism-disorder
https://rarediseases.info.nih.gov/diseases/6770/inborn-amino-acid-metabolism-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/6778/incontinentia-pigmenti
https://rarediseases.info.nih.gov/diseases/6778/incontinentia-pigmenti/diagnosis
https://rarediseases.info.nih.gov/diseases/6779/infantile-apnea
https://rarediseases.info.nih.gov/diseases/6779/infantile-apnea/diagnosis
https://rarediseases.info.nih.gov/diseases/6782/infectious-myocarditis
https://rarediseases.info.nih.gov/diseases/6782/infectious-myocarditis/diagnosis
https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction
https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction/diagnosis
https://rarediseases.info.nih.gov/diseases/6791/fuchs-heterochromic-iridocyclitis
https://rarediseases.info.nih.gov/diseases/6791/fuchs-heterochromic-iridocyclitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6793/isaacs-syndrome
https://rarediseases.info.nih.gov/diseases/6793/isaacs-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6795/right-sided-atrial-isomerism
https://rarediseases.info.nih.gov/diseases/6795/right-sided-atrial-isomerism/diagnosis
https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome
https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis
https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6798/autosomal-recessive-spondylocostal-dysostosis
https://rarediseases.info.nih.gov/diseases/6798/autosomal-recessive-spondylocostal-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6799/jejunal-atresia
https://rarediseases.info.nih.gov/diseases/6799/jejunal-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/68/hypoglossia-hypodactyly-syndrome
https://rarediseases.info.nih.gov/diseases/68/hypoglossia-hypodactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome
https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6801/spinocerebellar-ataxia-type-3
https://rarediseases.info.nih.gov/diseases/6801/spinocerebellar-ataxia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome
https://rarediseases.info.nih.gov/diseases/6802/joubert-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis
https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis/diagnosis
https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy
https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/6810/kabuki-syndrome
https://rarediseases.info.nih.gov/diseases/6810/kabuki-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6814/kaposi-sarcoma
https://rarediseases.info.nih.gov/diseases/6814/kaposi-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6816/kawasaki-disease
https://rarediseases.info.nih.gov/diseases/6816/kawasaki-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome
https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6818/kennedy-disease
https://rarediseases.info.nih.gov/diseases/6818/kennedy-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6821/muir-torre-syndrome
https://rarediseases.info.nih.gov/diseases/6821/muir-torre-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6824/keratoconus
https://rarediseases.info.nih.gov/diseases/6824/keratoconus/diagnosis
https://rarediseases.info.nih.gov/diseases/6829/keratosis-follicularis-spinulosa-decalvans
https://rarediseases.info.nih.gov/diseases/6829/keratosis-follicularis-spinulosa-decalvans/diagnosis
https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis
https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis/diagnosis
https://rarediseases.info.nih.gov/diseases/6830/bilirubin-encephalopathy
https://rarediseases.info.nih.gov/diseases/6830/bilirubin-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/6834/kikuchi-fujimoto-disease
https://rarediseases.info.nih.gov/diseases/6834/kikuchi-fujimoto-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6835/kimura-disease
https://rarediseases.info.nih.gov/diseases/6835/kimura-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6840/klver-bucy-syndrome
https://rarediseases.info.nih.gov/diseases/6840/klver-bucy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia
https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6842/osteochondrosis-of-the-tarsal-bone
https://rarediseases.info.nih.gov/diseases/6842/osteochondrosis-of-the-tarsal-bone/diagnosis
https://rarediseases.info.nih.gov/diseases/6844/krabbe-disease
https://rarediseases.info.nih.gov/diseases/6844/krabbe-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6848/lacrimoauriculodentodigital-syndrome
https://rarediseases.info.nih.gov/diseases/6848/lacrimoauriculodentodigital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella-syndrome
https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome
https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome
https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6858/langerhans-cell-histiocytosis
https://rarediseases.info.nih.gov/diseases/6858/langerhans-cell-histiocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6859/laron-syndrome
https://rarediseases.info.nih.gov/diseases/6859/laron-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome
https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis
https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6865/congenital-laryngomalacia
https://rarediseases.info.nih.gov/diseases/6865/congenital-laryngomalacia/diagnosis
https://rarediseases.info.nih.gov/diseases/6866/bardet-biedl-syndrome
https://rarediseases.info.nih.gov/diseases/6866/bardet-biedl-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6867/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/6867/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy
https://rarediseases.info.nih.gov/diseases/6870/leber-hereditary-optic-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease
https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6874/legg-calv-perthes-disease
https://rarediseases.info.nih.gov/diseases/6874/legg-calv-perthes-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome
https://rarediseases.info.nih.gov/diseases/6877/leigh-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6878/erythroderma-desquamativum
https://rarediseases.info.nih.gov/diseases/6878/erythroderma-desquamativum/diagnosis
https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma
https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6881/leishmaniasis
https://rarediseases.info.nih.gov/diseases/6881/leishmaniasis/diagnosis
https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome
https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6885/leprechaunism
https://rarediseases.info.nih.gov/diseases/6885/leprechaunism/diagnosis
https://rarediseases.info.nih.gov/diseases/6886/leprosy
https://rarediseases.info.nih.gov/diseases/6886/leprosy/diagnosis
https://rarediseases.info.nih.gov/diseases/689/aniridia-ptosis-intellectual-disability-familial-obesity-syndrome
https://rarediseases.info.nih.gov/diseases/689/aniridia-ptosis-intellectual-disability-familial-obesity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6892/leukemia-subleukemic
https://rarediseases.info.nih.gov/diseases/6892/leukemia-subleukemic/diagnosis
https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-i
https://rarediseases.info.nih.gov/diseases/6893/leukocyte-adhesion-deficiency-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy
https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/69/hantavirus-pulmonary-syndrome
https://rarediseases.info.nih.gov/diseases/69/hantavirus-pulmonary-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/690/aniridia-renal-agenesis-psychomotor-retardation-syndrome
https://rarediseases.info.nih.gov/diseases/690/aniridia-renal-agenesis-psychomotor-retardation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6901/lhermitte-duclos-disease
https://rarediseases.info.nih.gov/diseases/6901/lhermitte-duclos-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6902/li-fraumeni-syndrome
https://rarediseases.info.nih.gov/diseases/6902/li-fraumeni-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease
https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/6910/lipogranulomatosis
https://rarediseases.info.nih.gov/diseases/6910/lipogranulomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6913/liposarcoma
https://rarediseases.info.nih.gov/diseases/6913/liposarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-type-1-due-to-doublecortin-gene-mutation
https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-type-1-due-to-doublecortin-gene-mutation/diagnosis
https://rarediseases.info.nih.gov/diseases/6915/listeriosis
https://rarediseases.info.nih.gov/diseases/6915/listeriosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome
https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/693/anisakiasis
https://rarediseases.info.nih.gov/diseases/693/anisakiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/6932/lymph-node-neoplasm
https://rarediseases.info.nih.gov/diseases/6932/lymph-node-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/6940/jessner-lymphocytic-infiltration-of-the-skin
https://rarediseases.info.nih.gov/diseases/6940/jessner-lymphocytic-infiltration-of-the-skin/diagnosis
https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis
https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis
https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis
https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma
https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-polymicrogyria-syndrome
https://rarediseases.info.nih.gov/diseases/6950/megalencephaly-capillary-malformation-polymicrogyria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6951/macrodactyly-of-toes
https://rarediseases.info.nih.gov/diseases/6951/macrodactyly-of-toes/diagnosis
https://rarediseases.info.nih.gov/diseases/6953/macular-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/6953/macular-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/6956/sporadic-creutzfeldt-jakob-disease
https://rarediseases.info.nih.gov/diseases/6956/sporadic-creutzfeldt-jakob-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis
https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome
https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6959/mal-de-dbarquement
https://rarediseases.info.nih.gov/diseases/6959/mal-de-dbarquement/diagnosis
https://rarediseases.info.nih.gov/diseases/696/ankyloblepharon-filiforme-adnatum-cleft-palate-syndrome
https://rarediseases.info.nih.gov/diseases/696/ankyloblepharon-filiforme-adnatum-cleft-palate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6960/malakoplakia
https://rarediseases.info.nih.gov/diseases/6960/malakoplakia/diagnosis
https://rarediseases.info.nih.gov/diseases/6961/malaria
https://rarediseases.info.nih.gov/diseases/6961/malaria/diagnosis
https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma
https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/6964/malignant-hyperthermia-of-anesthesia
https://rarediseases.info.nih.gov/diseases/6964/malignant-hyperthermia-of-anesthesia/diagnosis
https://rarediseases.info.nih.gov/diseases/6966/malignant-mixed-mullerian-tumor
https://rarediseases.info.nih.gov/diseases/6966/malignant-mixed-mullerian-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis
https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6969/mantle-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/6969/mantle-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-adnatum-imperforate-anus-syndrome
https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-adnatum-imperforate-anus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease
https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/6972/marcus-gunn-syndrome
https://rarediseases.info.nih.gov/diseases/6972/marcus-gunn-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome
https://rarediseases.info.nih.gov/diseases/6973/marden-walker-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6984/marshall-syndrome
https://rarediseases.info.nih.gov/diseases/6984/marshall-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome
https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6986/masa-syndrome
https://rarediseases.info.nih.gov/diseases/6986/masa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6987/mastocytosis
https://rarediseases.info.nih.gov/diseases/6987/mastocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/6992/maxillonasal-dysplasia
https://rarediseases.info.nih.gov/diseases/6992/maxillonasal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/6995/mccune-albright-syndrome
https://rarediseases.info.nih.gov/diseases/6995/mccune-albright-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia
https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia
https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/70/kasabach-merritt-syndrome
https://rarediseases.info.nih.gov/diseases/70/kasabach-merritt-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7002/muc1-related-autosomal-dominant-tubulointerstitial-kidney-disease
https://rarediseases.info.nih.gov/diseases/7002/muc1-related-autosomal-dominant-tubulointerstitial-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7004/medullary-thyroid-carcinoma
https://rarediseases.info.nih.gov/diseases/7004/medullary-thyroid-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma
https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7006/imerslund-grsbeck-syndrome
https://rarediseases.info.nih.gov/diseases/7006/imerslund-grsbeck-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7008/blepharospasm-oromandibular-dystonia-syndrome
https://rarediseases.info.nih.gov/diseases/7008/blepharospasm-oromandibular-dystonia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7009/melas
https://rarediseases.info.nih.gov/diseases/7009/melas/diagnosis
https://rarediseases.info.nih.gov/diseases/701/dental-ankylosis
https://rarediseases.info.nih.gov/diseases/701/dental-ankylosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome
https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome
https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7015/meningioma
https://rarediseases.info.nih.gov/diseases/7015/meningioma/diagnosis
https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning
https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning/diagnosis
https://rarediseases.info.nih.gov/diseases/7026/pleural-mesothelioma
https://rarediseases.info.nih.gov/diseases/7026/pleural-mesothelioma/diagnosis
https://rarediseases.info.nih.gov/diseases/7029/metaphyseal-chondrodysplasia-schmid-type
https://rarediseases.info.nih.gov/diseases/7029/metaphyseal-chondrodysplasia-schmid-type/diagnosis
https://rarediseases.info.nih.gov/diseases/7033/methylmalonic-acidemia
https://rarediseases.info.nih.gov/diseases/7033/methylmalonic-acidemia/diagnosis
https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance
https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance/diagnosis
https://rarediseases.info.nih.gov/diseases/7035/multiple-osteochondromas
https://rarediseases.info.nih.gov/diseases/7035/multiple-osteochondromas/diagnosis
https://rarediseases.info.nih.gov/diseases/7039/microvillus-inclusion-disease
https://rarediseases.info.nih.gov/diseases/7039/microvillus-inclusion-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7041/extranodal-nasal-nkt-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/7041/extranodal-nasal-nkt-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis
https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis/diagnosis
https://rarediseases.info.nih.gov/diseases/705/annular-pancreas
https://rarediseases.info.nih.gov/diseases/705/annular-pancreas/diagnosis
https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease
https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex
https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex/diagnosis
https://rarediseases.info.nih.gov/diseases/7058/localized-scleroderma
https://rarediseases.info.nih.gov/diseases/7058/localized-scleroderma/diagnosis
https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy
https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy/diagnosis
https://rarediseases.info.nih.gov/diseases/7064/moyamoya-disease
https://rarediseases.info.nih.gov/diseases/7064/moyamoya-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis
https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7071/sanfilippo-syndrome-type-a
https://rarediseases.info.nih.gov/diseases/7071/sanfilippo-syndrome-type-a/diagnosis
https://rarediseases.info.nih.gov/diseases/7072/sanfilippo-syndrome-type-b
https://rarediseases.info.nih.gov/diseases/7072/sanfilippo-syndrome-type-b/diagnosis
https://rarediseases.info.nih.gov/diseases/7073/sanfilippo-syndrome-type-c
https://rarediseases.info.nih.gov/diseases/7073/sanfilippo-syndrome-type-c/diagnosis
https://rarediseases.info.nih.gov/diseases/7074/sanfilippo-syndrome-type-d
https://rarediseases.info.nih.gov/diseases/7074/sanfilippo-syndrome-type-d/diagnosis
https://rarediseases.info.nih.gov/diseases/7079/multiple-system-atrophy
https://rarediseases.info.nih.gov/diseases/7079/multiple-system-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/7095/mucopolysaccharidosis-type-6
https://rarediseases.info.nih.gov/diseases/7095/mucopolysaccharidosis-type-6/diagnosis
https://rarediseases.info.nih.gov/diseases/7096/mucopolysaccharidosis-type-7
https://rarediseases.info.nih.gov/diseases/7096/mucopolysaccharidosis-type-7/diagnosis
https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome
https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/71/human-granulocytic-ehrlichiosis
https://rarediseases.info.nih.gov/diseases/71/human-granulocytic-ehrlichiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/710/anonychia-onychodystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/710/anonychia-onychodystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7100/mllerian-aplasia
https://rarediseases.info.nih.gov/diseases/7100/mllerian-aplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis
https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7108/multiple-myeloma
https://rarediseases.info.nih.gov/diseases/7108/multiple-myeloma/diagnosis
https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly
https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly/diagnosis
https://rarediseases.info.nih.gov/diseases/7111/autosomal-recessive-multiple-pterygium-syndrome
https://rarediseases.info.nih.gov/diseases/7111/autosomal-recessive-multiple-pterygium-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis
https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis/diagnosis
https://rarediseases.info.nih.gov/diseases/713/matthew-wood-syndrome
https://rarediseases.info.nih.gov/diseases/713/matthew-wood-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7132/myelodysplastic-syndrome
https://rarediseases.info.nih.gov/diseases/7132/myelodysplastic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7137/myocarditis
https://rarediseases.info.nih.gov/diseases/7137/myocarditis/diagnosis
https://rarediseases.info.nih.gov/diseases/7139/myoclonus-dystonia-syndrome
https://rarediseases.info.nih.gov/diseases/7139/myoclonus-dystonia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7140/progressive-myoclonic-epilepsy
https://rarediseases.info.nih.gov/diseases/7140/progressive-myoclonic-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/7144/merrf
https://rarediseases.info.nih.gov/diseases/7144/merrf/diagnosis
https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor
https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/7148/hyaline-body-myopathy
https://rarediseases.info.nih.gov/diseases/7148/hyaline-body-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/7158/hyperammonemia-due-to-n-acetylglutamate-synthase-deficiency
https://rarediseases.info.nih.gov/diseases/7158/hyperammonemia-due-to-n-acetylglutamate-synthase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome
https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome
https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7163/nasopharyngeal-carcinoma
https://rarediseases.info.nih.gov/diseases/7163/nasopharyngeal-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7166/gorlin-syndrome
https://rarediseases.info.nih.gov/diseases/7166/gorlin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies-syndrome
https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome
https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy
https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis
https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7178/nephrogenic-diabetes-insipidus
https://rarediseases.info.nih.gov/diseases/7178/nephrogenic-diabetes-insipidus/diagnosis
https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome
https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7183/sialidosis-type-2
https://rarediseases.info.nih.gov/diseases/7183/sialidosis-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma
https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7186/neurocutaneous-melanocytosis
https://rarediseases.info.nih.gov/diseases/7186/neurocutaneous-melanocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome
https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7190/alzheimer-disease-15
https://rarediseases.info.nih.gov/diseases/7190/alzheimer-disease-15/diagnosis
https://rarediseases.info.nih.gov/diseases/7191/neurofibroma
https://rarediseases.info.nih.gov/diseases/7191/neurofibroma/diagnosis
https://rarediseases.info.nih.gov/diseases/7193/neurofibromatosis-type-2
https://rarediseases.info.nih.gov/diseases/7193/neurofibromatosis-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome
https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis
https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7201/thymic-aplasia
https://rarediseases.info.nih.gov/diseases/7201/thymic-aplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7206/infantile-neurovisceral-acid-sphingomyelinase-deficiency
https://rarediseases.info.nih.gov/diseases/7206/infantile-neurovisceral-acid-sphingomyelinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7207/niemann-pick-disease-type-c
https://rarediseases.info.nih.gov/diseases/7207/niemann-pick-disease-type-c/diagnosis
https://rarediseases.info.nih.gov/diseases/7210/nocardiosis
https://rarediseases.info.nih.gov/diseases/7210/nocardiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy
https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/722/microphthalmia-with-limb-anomalies
https://rarediseases.info.nih.gov/diseases/722/microphthalmia-with-limb-anomalies/diagnosis
https://rarediseases.info.nih.gov/diseases/7224/norrie-disease
https://rarediseases.info.nih.gov/diseases/7224/norrie-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome
https://rarediseases.info.nih.gov/diseases/7226/lesch-nyhan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7236/ocular-melanoma
https://rarediseases.info.nih.gov/diseases/7236/ocular-melanoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia
https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/7248/ogilvie-syndrome
https://rarediseases.info.nih.gov/diseases/7248/ogilvie-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7251/ollier-disease
https://rarediseases.info.nih.gov/diseases/7251/ollier-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis
https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis/diagnosis
https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis
https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7269/carbamoyl-phosphate-synthetase-1-deficiency
https://rarediseases.info.nih.gov/diseases/7269/carbamoyl-phosphate-synthetase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7284/osteosarcoma
https://rarediseases.info.nih.gov/diseases/7284/osteosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7286/osteomyelitis
https://rarediseases.info.nih.gov/diseases/7286/osteomyelitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7293/oto-palatal-digital-syndrome
https://rarediseases.info.nih.gov/diseases/7293/oto-palatal-digital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7295/ovarian-cancer
https://rarediseases.info.nih.gov/diseases/7295/ovarian-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/7296/malignant-mixed-mllerian-tumor-of-the-ovary
https://rarediseases.info.nih.gov/diseases/7296/malignant-mixed-mllerian-tumor-of-the-ovary/diagnosis
https://rarediseases.info.nih.gov/diseases/73/x-linked-hyper-igm-syndrome
https://rarediseases.info.nih.gov/diseases/73/x-linked-hyper-igm-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization
https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization/diagnosis
https://rarediseases.info.nih.gov/diseases/7303/paget-disease-of-the-nipple
https://rarediseases.info.nih.gov/diseases/7303/paget-disease-of-the-nipple/diagnosis
https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome
https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/731/congenital-alpha2-antiplasmin-deficiency
https://rarediseases.info.nih.gov/diseases/731/congenital-alpha2-antiplasmin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7312/pandas
https://rarediseases.info.nih.gov/diseases/7312/pandas/diagnosis
https://rarediseases.info.nih.gov/diseases/7321/localized-lichen-myxedematosus
https://rarediseases.info.nih.gov/diseases/7321/localized-lichen-myxedematosus/diagnosis
https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis
https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7324/paragangliomas-1
https://rarediseases.info.nih.gov/diseases/7324/paragangliomas-1/diagnosis
https://rarediseases.info.nih.gov/diseases/7325/paramyotonia-congenita-of-von-eulenburg
https://rarediseases.info.nih.gov/diseases/7325/paramyotonia-congenita-of-von-eulenburg/diagnosis
https://rarediseases.info.nih.gov/diseases/7329/parathyroid-carcinoma
https://rarediseases.info.nih.gov/diseases/7329/parathyroid-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7335/paroxysmal-cold-hemoglobinuria
https://rarediseases.info.nih.gov/diseases/7335/paroxysmal-cold-hemoglobinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria
https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/7338/progressive-hemifacial-atrophy
https://rarediseases.info.nih.gov/diseases/7338/progressive-hemifacial-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/7339/pars-planitis
https://rarediseases.info.nih.gov/diseases/7339/pars-planitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7341/trisomy-13
https://rarediseases.info.nih.gov/diseases/7341/trisomy-13/diagnosis
https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus-1
https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus-1/diagnosis
https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome
https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7346/pediatric-t-cell-leukemia
https://rarediseases.info.nih.gov/diseases/7346/pediatric-t-cell-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/7347/peeling-skin-syndrome
https://rarediseases.info.nih.gov/diseases/7347/peeling-skin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease
https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome
https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7352/pemphigus
https://rarediseases.info.nih.gov/diseases/7352/pemphigus/diagnosis
https://rarediseases.info.nih.gov/diseases/7353/pemphigus-and-fogo-selvagem
https://rarediseases.info.nih.gov/diseases/7353/pemphigus-and-fogo-selvagem/diagnosis
https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus
https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus/diagnosis
https://rarediseases.info.nih.gov/diseases/7355/pemphigus-vulgaris
https://rarediseases.info.nih.gov/diseases/7355/pemphigus-vulgaris/diagnosis
https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell
https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell/diagnosis
https://rarediseases.info.nih.gov/diseases/736/hereditary-antithrombin-deficiency-type-i
https://rarediseases.info.nih.gov/diseases/736/hereditary-antithrombin-deficiency-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/7360/polyarteritis-nodosa
https://rarediseases.info.nih.gov/diseases/7360/polyarteritis-nodosa/diagnosis
https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7371/periventricular-nodular-heterotopia-1
https://rarediseases.info.nih.gov/diseases/7371/periventricular-nodular-heterotopia-1/diagnosis
https://rarediseases.info.nih.gov/diseases/7377/peters-anomaly
https://rarediseases.info.nih.gov/diseases/7377/peters-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome
https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/738/congenital-aortopulmonary-window
https://rarediseases.info.nih.gov/diseases/738/congenital-aortopulmonary-window/diagnosis
https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome
https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome
https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria
https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria/diagnosis
https://rarediseases.info.nih.gov/diseases/7387/roberts-syndrome
https://rarediseases.info.nih.gov/diseases/7387/roberts-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7389/glycogen-storage-disease-due-to-phosphoglycerate-kinase-1-deficiency
https://rarediseases.info.nih.gov/diseases/7389/glycogen-storage-disease-due-to-phosphoglycerate-kinase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/739/aortic-arch-anomaly-facial-dysmorphism-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/739/aortic-arch-anomaly-facial-dysmorphism-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7392/behavioral-variant-of-frontotemporal-dementia
https://rarediseases.info.nih.gov/diseases/7392/behavioral-variant-of-frontotemporal-dementia/diagnosis
https://rarediseases.info.nih.gov/diseases/7396/tenosynovial-giant-cell-tumor
https://rarediseases.info.nih.gov/diseases/7396/tenosynovial-giant-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/7397/pinta
https://rarediseases.info.nih.gov/diseases/7397/pinta/diagnosis
https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-ia
https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-ia/diagnosis
https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption
https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption/diagnosis
https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris
https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris/diagnosis
https://rarediseases.info.nih.gov/diseases/7403/placental-site-trophoblastic-tumor
https://rarediseases.info.nih.gov/diseases/7403/placental-site-trophoblastic-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/741/aortic-arch-defects
https://rarediseases.info.nih.gov/diseases/741/aortic-arch-defects/diagnosis
https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome
https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome
https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7413/poliomyelitis
https://rarediseases.info.nih.gov/diseases/7413/poliomyelitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa
https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa/diagnosis
https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis
https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis/diagnosis
https://rarediseases.info.nih.gov/diseases/7419/polycystic-kidney-disease
https://rarediseases.info.nih.gov/diseases/7419/polycystic-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera
https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera/diagnosis
https://rarediseases.info.nih.gov/diseases/7425/polymyositis
https://rarediseases.info.nih.gov/diseases/7425/polymyositis/diagnosis
https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis
https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7430/porencephaly
https://rarediseases.info.nih.gov/diseases/7430/porencephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma
https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7433/porphyria-cutanea-tarda
https://rarediseases.info.nih.gov/diseases/7433/porphyria-cutanea-tarda/diagnosis
https://rarediseases.info.nih.gov/diseases/7439/posterior-urethral-valve
https://rarediseases.info.nih.gov/diseases/7439/posterior-urethral-valve/diagnosis
https://rarediseases.info.nih.gov/diseases/7459/primary-biliary-cholangitis
https://rarediseases.info.nih.gov/diseases/7459/primary-biliary-cholangitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7465/prinzmetals-variant-angina
https://rarediseases.info.nih.gov/diseases/7465/prinzmetals-variant-angina/diagnosis
https://rarediseases.info.nih.gov/diseases/7467/hutchinson-gilford-progeria-syndrome
https://rarediseases.info.nih.gov/diseases/7467/hutchinson-gilford-progeria-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy
https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/7471/progressive-supranuclear-palsy
https://rarediseases.info.nih.gov/diseases/7471/progressive-supranuclear-palsy/diagnosis
https://rarediseases.info.nih.gov/diseases/7473/prolidase-deficiency
https://rarediseases.info.nih.gov/diseases/7473/prolidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7475/proteus-syndrome
https://rarediseases.info.nih.gov/diseases/7475/proteus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7476/protoporphyria
https://rarediseases.info.nih.gov/diseases/7476/protoporphyria/diagnosis
https://rarediseases.info.nih.gov/diseases/7479/prune-belly-syndrome
https://rarediseases.info.nih.gov/diseases/7479/prune-belly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/748/aphalangy-syndactyly-microcephaly-syndrome
https://rarediseases.info.nih.gov/diseases/748/aphalangy-syndactyly-microcephaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7482/butyrylcholinesterase-deficiency
https://rarediseases.info.nih.gov/diseases/7482/butyrylcholinesterase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7486/pseudohypoparathyroidism-type-1a
https://rarediseases.info.nih.gov/diseases/7486/pseudohypoparathyroidism-type-1a/diagnosis
https://rarediseases.info.nih.gov/diseases/7488/pseudomyxoma-peritonei
https://rarediseases.info.nih.gov/diseases/7488/pseudomyxoma-peritonei/diagnosis
https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis
https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7501/pulmonary-arterial-hypertension
https://rarediseases.info.nih.gov/diseases/7501/pulmonary-arterial-hypertension/diagnosis
https://rarediseases.info.nih.gov/diseases/7503/punctate-inner-choroidopathy
https://rarediseases.info.nih.gov/diseases/7503/punctate-inner-choroidopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/7504/pure-red-cell-aplasia
https://rarediseases.info.nih.gov/diseases/7504/pure-red-cell-aplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum
https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum/diagnosis
https://rarediseases.info.nih.gov/diseases/7512/pyruvate-carboxylase-deficiency
https://rarediseases.info.nih.gov/diseases/7512/pyruvate-carboxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7513/pyruvate-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/7513/pyruvate-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7514/hemolytic-anemia-due-to-red-cell-pyruvate-kinase-deficiency
https://rarediseases.info.nih.gov/diseases/7514/hemolytic-anemia-due-to-red-cell-pyruvate-kinase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7515/q-fever
https://rarediseases.info.nih.gov/diseases/7515/q-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/7516/rabies
https://rarediseases.info.nih.gov/diseases/7516/rabies/diagnosis
https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome
https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7525/ramsay-hunt-syndrome
https://rarediseases.info.nih.gov/diseases/7525/ramsay-hunt-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/753/aplasia-cutis-congenita-intestinal-lymphangiectasia-syndrome
https://rarediseases.info.nih.gov/diseases/753/aplasia-cutis-congenita-intestinal-lymphangiectasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive
https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/7548/familial-renal-glucosuria
https://rarediseases.info.nih.gov/diseases/7548/familial-renal-glucosuria/diagnosis
https://rarediseases.info.nih.gov/diseases/7551/renal-rickets
https://rarediseases.info.nih.gov/diseases/7551/renal-rickets/diagnosis
https://rarediseases.info.nih.gov/diseases/7552/primary-renal-tubular-acidosis
https://rarediseases.info.nih.gov/diseases/7552/primary-renal-tubular-acidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia-syndrome
https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7563/retinoblastoma
https://rarediseases.info.nih.gov/diseases/7563/retinoblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7570/reye-syndrome
https://rarediseases.info.nih.gov/diseases/7570/reye-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor
https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/7577/rheumatoid-vasculitis
https://rarediseases.info.nih.gov/diseases/7577/rheumatoid-vasculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7578/richter-syndrome
https://rarediseases.info.nih.gov/diseases/7578/richter-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7581/familial-dysautonomia
https://rarediseases.info.nih.gov/diseases/7581/familial-dysautonomia/diagnosis
https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever
https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/7588/rosa-dorfman-disease
https://rarediseases.info.nih.gov/diseases/7588/rosa-dorfman-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/759/familial-apolipoprotein-c-ii-deficiency
https://rarediseases.info.nih.gov/diseases/759/familial-apolipoprotein-c-ii-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7593/rubinstein-taybi-syndrome
https://rarediseases.info.nih.gov/diseases/7593/rubinstein-taybi-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7597/sacral-plexopathy
https://rarediseases.info.nih.gov/diseases/7597/sacral-plexopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome
https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/76/hypohidrotic-ectodermal-dysplasia
https://rarediseases.info.nih.gov/diseases/76/hypohidrotic-ectodermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome
https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7607/sarcoidosis
https://rarediseases.info.nih.gov/diseases/7607/sarcoidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7608/x-linked-scapuloperoneal-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/7608/x-linked-scapuloperoneal-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/7609/pigmented-purpuric-dermatosis
https://rarediseases.info.nih.gov/diseases/7609/pigmented-purpuric-dermatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7611/autoimmune-polyendocrinopathy-type-2
https://rarediseases.info.nih.gov/diseases/7611/autoimmune-polyendocrinopathy-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema
https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema/diagnosis
https://rarediseases.info.nih.gov/diseases/7617/kuru
https://rarediseases.info.nih.gov/diseases/7617/kuru/diagnosis
https://rarediseases.info.nih.gov/diseases/7627/septo-optic-dysplasia-spectrum
https://rarediseases.info.nih.gov/diseases/7627/septo-optic-dysplasia-spectrum/diagnosis
https://rarediseases.info.nih.gov/diseases/7628/severe-combined-immunodeficiency
https://rarediseases.info.nih.gov/diseases/7628/severe-combined-immunodeficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7629/szary-syndrome
https://rarediseases.info.nih.gov/diseases/7629/szary-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7630/sheehan-syndrome
https://rarediseases.info.nih.gov/diseases/7630/sheehan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7633/short-syndrome
https://rarediseases.info.nih.gov/diseases/7633/short-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon
https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon/diagnosis
https://rarediseases.info.nih.gov/diseases/7639/sialidosis-type-1
https://rarediseases.info.nih.gov/diseases/7639/sialidosis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/764/arachnodactyly-intellectual-disability-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/764/arachnodactyly-intellectual-disability-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7647/silicosis
https://rarediseases.info.nih.gov/diseases/7647/silicosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome
https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7652/sirenomelia
https://rarediseases.info.nih.gov/diseases/7652/sirenomelia/diagnosis
https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia
https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia/diagnosis
https://rarediseases.info.nih.gov/diseases/7654/sjgren-larsson-syndrome
https://rarediseases.info.nih.gov/diseases/7654/sjgren-larsson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome
https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis
https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7673/isolated-spina-bifida
https://rarediseases.info.nih.gov/diseases/7673/isolated-spina-bifida/diagnosis
https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/7683/splenic-neoplasm
https://rarediseases.info.nih.gov/diseases/7683/splenic-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/7687/spondyloepiphyseal-dysplasia-and-spondyloepimetaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/7687/spondyloepiphyseal-dysplasia-and-spondyloepimetaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7690/gerstmann-straussler-scheinker-syndrome
https://rarediseases.info.nih.gov/diseases/7690/gerstmann-straussler-scheinker-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis
https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7693/sprengel-deformity
https://rarediseases.info.nih.gov/diseases/7693/sprengel-deformity/diagnosis
https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency
https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7700/stevens-johnson-syndrome
https://rarediseases.info.nih.gov/diseases/7700/stevens-johnson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome
https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-leukoencephalitis
https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-leukoencephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7710/congenital-sucrase-isomaltase-deficiency
https://rarediseases.info.nih.gov/diseases/7710/congenital-sucrase-isomaltase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome
https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome
https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7716/sydenham-chorea
https://rarediseases.info.nih.gov/diseases/7716/sydenham-chorea/diagnosis
https://rarediseases.info.nih.gov/diseases/7721/synovial-sarcoma
https://rarediseases.info.nih.gov/diseases/7721/synovial-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7725/syringomyelia
https://rarediseases.info.nih.gov/diseases/7725/syringomyelia/diagnosis
https://rarediseases.info.nih.gov/diseases/7730/takayasu-arteritis
https://rarediseases.info.nih.gov/diseases/7730/takayasu-arteritis/diagnosis
https://rarediseases.info.nih.gov/diseases/7731/tangier-disease
https://rarediseases.info.nih.gov/diseases/7731/tangier-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome
https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease
https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/774/arterial-tortuosity-syndrome
https://rarediseases.info.nih.gov/diseases/774/arterial-tortuosity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7751/hyperphenylalaninemia-due-to-tetrahydrobiopterin-deficiency
https://rarediseases.info.nih.gov/diseases/7751/hyperphenylalaninemia-due-to-tetrahydrobiopterin-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x
https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x/diagnosis
https://rarediseases.info.nih.gov/diseases/7756/thalassemia
https://rarediseases.info.nih.gov/diseases/7756/thalassemia/diagnosis
https://rarediseases.info.nih.gov/diseases/7759/thoracic-outlet-syndrome
https://rarediseases.info.nih.gov/diseases/7759/thoracic-outlet-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/777/arthrogryposis-multiplex-congenita
https://rarediseases.info.nih.gov/diseases/777/arthrogryposis-multiplex-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis
https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome
https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome
https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome
https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood
https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma
https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7795/transposition-of-the-great-arteries
https://rarediseases.info.nih.gov/diseases/7795/transposition-of-the-great-arteries/diagnosis
https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome
https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7800/trichorhinophalangeal-syndrome-type-i
https://rarediseases.info.nih.gov/diseases/7800/trichorhinophalangeal-syndrome-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/7801/trichorhinophalangeal-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/7801/trichorhinophalangeal-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/7802/trichorhinophalangeal-syndrome-type-iii
https://rarediseases.info.nih.gov/diseases/7802/trichorhinophalangeal-syndrome-type-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia
https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia/diagnosis
https://rarediseases.info.nih.gov/diseases/7815/mosaic-trisomy-6
https://rarediseases.info.nih.gov/diseases/7815/mosaic-trisomy-6/diagnosis
https://rarediseases.info.nih.gov/diseases/7826/african-trypanosomiasis
https://rarediseases.info.nih.gov/diseases/7826/african-trypanosomiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/7828/tuberculous-meningitis
https://rarediseases.info.nih.gov/diseases/7828/tuberculous-meningitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7830/tuberous-sclerosis-complex
https://rarediseases.info.nih.gov/diseases/7830/tuberous-sclerosis-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome
https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7837/disorder-of-urea-cycle-metabolism-and-ammonia-detoxification
https://rarediseases.info.nih.gov/diseases/7837/disorder-of-urea-cycle-metabolism-and-ammonia-detoxification/diagnosis
https://rarediseases.info.nih.gov/diseases/784/arthrogryposis-like-hand-anomaly-sensorineural-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/784/arthrogryposis-like-hand-anomaly-sensorineural-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7842/cutaneous-mastocytosis
https://rarediseases.info.nih.gov/diseases/7842/cutaneous-mastocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome
https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2
https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/7848/porphyria-variegata
https://rarediseases.info.nih.gov/diseases/7848/porphyria-variegata/diagnosis
https://rarediseases.info.nih.gov/diseases/7851/cutaneous-small-vessel-vasculitis
https://rarediseases.info.nih.gov/diseases/7851/cutaneous-small-vessel-vasculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis
https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease
https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism
https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism/diagnosis
https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease
https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7864/glycogen-storage-disease-due-to-glucose-6-phosphatase-deficiency-type-ia
https://rarediseases.info.nih.gov/diseases/7864/glycogen-storage-disease-due-to-glucose-6-phosphatase-deficiency-type-ia/diagnosis
https://rarediseases.info.nih.gov/diseases/7866/neurofibromatosis-type-1
https://rarediseases.info.nih.gov/diseases/7866/neurofibromatosis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/7867/von-willebrand-disease
https://rarediseases.info.nih.gov/diseases/7867/von-willebrand-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1
https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/7871/wagner-disease
https://rarediseases.info.nih.gov/diseases/7871/wagner-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7872/waldenstrm-macroglobulinemia
https://rarediseases.info.nih.gov/diseases/7872/waldenstrm-macroglobulinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia
https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia/diagnosis
https://rarediseases.info.nih.gov/diseases/7876/autoimmune-hemolytic-anemia-warm-type
https://rarediseases.info.nih.gov/diseases/7876/autoimmune-hemolytic-anemia-warm-type/diagnosis
https://rarediseases.info.nih.gov/diseases/7877/watermelon-stomach
https://rarediseases.info.nih.gov/diseases/7877/watermelon-stomach/diagnosis
https://rarediseases.info.nih.gov/diseases/7878/weaver-syndrome
https://rarediseases.info.nih.gov/diseases/7878/weaver-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7879/nodular-non-suppurative-panniculitis
https://rarediseases.info.nih.gov/diseases/7879/nodular-non-suppurative-panniculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7880/granulomatosis-with-polyangiitis
https://rarediseases.info.nih.gov/diseases/7880/granulomatosis-with-polyangiitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7881/leptospirosis
https://rarediseases.info.nih.gov/diseases/7881/leptospirosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7883/proximal-spinal-muscular-atrophy-type-1
https://rarediseases.info.nih.gov/diseases/7883/proximal-spinal-muscular-atrophy-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/7885/werner-syndrome
https://rarediseases.info.nih.gov/diseases/7885/werner-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7887/infantile-spasms-syndrome
https://rarediseases.info.nih.gov/diseases/7887/infantile-spasms-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis
https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/7889/whipple-disease
https://rarediseases.info.nih.gov/diseases/7889/whipple-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7890/intellectual-disability-developmental-delay-contractures-syndrome
https://rarediseases.info.nih.gov/diseases/7890/intellectual-disability-developmental-delay-contractures-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome
https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7892/nephroblastoma
https://rarediseases.info.nih.gov/diseases/7892/nephroblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/7893/wilson-disease
https://rarediseases.info.nih.gov/diseases/7893/wilson-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/7894/winchester-syndrome
https://rarediseases.info.nih.gov/diseases/7894/winchester-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome
https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome
https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7898/wolfram-syndrome
https://rarediseases.info.nih.gov/diseases/7898/wolfram-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7899/wolman-disease
https://rarediseases.info.nih.gov/diseases/7899/wolman-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/79/metaphyseal-chondrodysplasia-jansen-type
https://rarediseases.info.nih.gov/diseases/79/metaphyseal-chondrodysplasia-jansen-type/diagnosis
https://rarediseases.info.nih.gov/diseases/790/neurogenic-arthrogryposis-multiplex-congenita
https://rarediseases.info.nih.gov/diseases/790/neurogenic-arthrogryposis-multiplex-congenita/diagnosis
https://rarediseases.info.nih.gov/diseases/7900/wyburn-mason-syndrome
https://rarediseases.info.nih.gov/diseases/7900/wyburn-mason-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7904/recessive-x-linked-ichthyosis
https://rarediseases.info.nih.gov/diseases/7904/recessive-x-linked-ichthyosis/diagnosis
https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum
https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum/diagnosis
https://rarediseases.info.nih.gov/diseases/7913/yaws
https://rarediseases.info.nih.gov/diseases/7913/yaws/diagnosis
https://rarediseases.info.nih.gov/diseases/7914/yellow-fever
https://rarediseases.info.nih.gov/diseases/7914/yellow-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/7917/zellweger-syndrome
https://rarediseases.info.nih.gov/diseases/7917/zellweger-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7918/zollinger-ellison-syndrome
https://rarediseases.info.nih.gov/diseases/7918/zollinger-ellison-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/792/arthrogryposis-multiplex-congenita-whistling-face-syndrome
https://rarediseases.info.nih.gov/diseases/792/arthrogryposis-multiplex-congenita-whistling-face-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/794/arthrogryposis-renal-dysfunction-cholestasis-syndrome
https://rarediseases.info.nih.gov/diseases/794/arthrogryposis-renal-dysfunction-cholestasis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/80/johanson-blizzard-syndrome
https://rarediseases.info.nih.gov/diseases/80/johanson-blizzard-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/802/atrioventricular-septal-defect
https://rarediseases.info.nih.gov/diseases/802/atrioventricular-septal-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome
https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/806/spastic-paraplegia-facial-cutaneous-lesions-syndrome
https://rarediseases.info.nih.gov/diseases/806/spastic-paraplegia-facial-cutaneous-lesions-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/809/balantidiasis
https://rarediseases.info.nih.gov/diseases/809/balantidiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/81/intellectual-developmental-disorder-x-linked-syndromic-turner-type
https://rarediseases.info.nih.gov/diseases/81/intellectual-developmental-disorder-x-linked-syndromic-turner-type/diagnosis
https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome
https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/813/banki-syndrome
https://rarediseases.info.nih.gov/diseases/813/banki-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria
https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-type-4
https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/8169/igg4-related-mesenteritis
https://rarediseases.info.nih.gov/diseases/8169/igg4-related-mesenteritis/diagnosis
https://rarediseases.info.nih.gov/diseases/8173/achondroplasia
https://rarediseases.info.nih.gov/diseases/8173/achondroplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8174/cryptomicrotia-brachydactyly-excess-fingertip-arch-syndrome
https://rarediseases.info.nih.gov/diseases/8174/cryptomicrotia-brachydactyly-excess-fingertip-arch-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8178/hypotrichosis-7
https://rarediseases.info.nih.gov/diseases/8178/hypotrichosis-7/diagnosis
https://rarediseases.info.nih.gov/diseases/8182/proximal-symphalangism
https://rarediseases.info.nih.gov/diseases/8182/proximal-symphalangism/diagnosis
https://rarediseases.info.nih.gov/diseases/8189/conotruncal-heart-malformations
https://rarediseases.info.nih.gov/diseases/8189/conotruncal-heart-malformations/diagnosis
https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome
https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8194/cysticercosis
https://rarediseases.info.nih.gov/diseases/8194/cysticercosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8195/strongyloidiasis
https://rarediseases.info.nih.gov/diseases/8195/strongyloidiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/8197/smith-magenis-syndrome
https://rarediseases.info.nih.gov/diseases/8197/smith-magenis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome
https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome
https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/820/bardet-biedl-syndrome-1
https://rarediseases.info.nih.gov/diseases/820/bardet-biedl-syndrome-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8204/immunoglobulin-a-vasculitis
https://rarediseases.info.nih.gov/diseases/8204/immunoglobulin-a-vasculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8206/congenital-generalized-hypertrichosis-ambras-type
https://rarediseases.info.nih.gov/diseases/8206/congenital-generalized-hypertrichosis-ambras-type/diagnosis
https://rarediseases.info.nih.gov/diseases/8207/pineocytoma
https://rarediseases.info.nih.gov/diseases/8207/pineocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8208/tropical-spastic-paraparesis
https://rarediseases.info.nih.gov/diseases/8208/tropical-spastic-paraparesis/diagnosis
https://rarediseases.info.nih.gov/diseases/821/bardet-biedl-syndrome-2
https://rarediseases.info.nih.gov/diseases/821/bardet-biedl-syndrome-2/diagnosis
https://rarediseases.info.nih.gov/diseases/8211/neurofibrosarcoma
https://rarediseases.info.nih.gov/diseases/8211/neurofibrosarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8214/lafora-disease
https://rarediseases.info.nih.gov/diseases/8214/lafora-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis
https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis/diagnosis
https://rarediseases.info.nih.gov/diseases/8219/lymphoma-large-cell-immunoblastic
https://rarediseases.info.nih.gov/diseases/8219/lymphoma-large-cell-immunoblastic/diagnosis
https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3
https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3/diagnosis
https://rarediseases.info.nih.gov/diseases/8223/b-cell-prolymphocytic-leukemia
https://rarediseases.info.nih.gov/diseases/8223/b-cell-prolymphocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8224/leukemia-t-cell-chronic
https://rarediseases.info.nih.gov/diseases/8224/leukemia-t-cell-chronic/diagnosis
https://rarediseases.info.nih.gov/diseases/8225/chronic-myelomonocytic-leukemia
https://rarediseases.info.nih.gov/diseases/8225/chronic-myelomonocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia
https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4
https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4/diagnosis
https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia
https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8231/non-langerhans-cell-histiocytosis
https://rarediseases.info.nih.gov/diseases/8231/non-langerhans-cell-histiocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8232/hemangioblastoma
https://rarediseases.info.nih.gov/diseases/8232/hemangioblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8233/gaucher-disease
https://rarediseases.info.nih.gov/diseases/8233/gaucher-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8234/felty-syndrome
https://rarediseases.info.nih.gov/diseases/8234/felty-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8238/choroid-plexus-carcinoma
https://rarediseases.info.nih.gov/diseases/8238/choroid-plexus-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/824/immunodeficiency-by-defective-expression-of-mhc-class-ii
https://rarediseases.info.nih.gov/diseases/824/immunodeficiency-by-defective-expression-of-mhc-class-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis
https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome
https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8249/acquired-idiopathic-sideroblastic-anemia
https://rarediseases.info.nih.gov/diseases/8249/acquired-idiopathic-sideroblastic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8250/aids-dementia-complex
https://rarediseases.info.nih.gov/diseases/8250/aids-dementia-complex/diagnosis
https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease
https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8258/mediastinal-endodermal-sinus-tumors
https://rarediseases.info.nih.gov/diseases/8258/mediastinal-endodermal-sinus-tumors/diagnosis
https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome
https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/826/frontometaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/826/frontometaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8270/muscular-pseudohypertrophy-hypothyroidism-syndrome
https://rarediseases.info.nih.gov/diseases/8270/muscular-pseudohypertrophy-hypothyroidism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema
https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema/diagnosis
https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome
https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8278/cataract-congenital-with-microcornea-or-slight-microphthalmia
https://rarediseases.info.nih.gov/diseases/8278/cataract-congenital-with-microcornea-or-slight-microphthalmia/diagnosis
https://rarediseases.info.nih.gov/diseases/8282/hereditary-amyloidosis-with-primary-renal-involvement
https://rarediseases.info.nih.gov/diseases/8282/hereditary-amyloidosis-with-primary-renal-involvement/diagnosis
https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2
https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2/diagnosis
https://rarediseases.info.nih.gov/diseases/8295/isolated-complex-iii-deficiency
https://rarediseases.info.nih.gov/diseases/8295/isolated-complex-iii-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/83/autosomal-dominant-kenny-caffey-syndrome
https://rarediseases.info.nih.gov/diseases/83/autosomal-dominant-kenny-caffey-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8309/tibial-hemimelia-polysyndactyly-triphalangeal-thumb-syndrome
https://rarediseases.info.nih.gov/diseases/8309/tibial-hemimelia-polysyndactyly-triphalangeal-thumb-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8310/steinert-myotonic-dystrophy
https://rarediseases.info.nih.gov/diseases/8310/steinert-myotonic-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/8312/pseudo-von-willebrand-disease
https://rarediseases.info.nih.gov/diseases/8312/pseudo-von-willebrand-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor
https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/8329/atelosteogenesis-type-ii
https://rarediseases.info.nih.gov/diseases/8329/atelosteogenesis-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/8331/mohr-tranebjaerg-syndrome
https://rarediseases.info.nih.gov/diseases/8331/mohr-tranebjaerg-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8333/athabaskan-brainstem-dysgenesis-syndrome
https://rarediseases.info.nih.gov/diseases/8333/athabaskan-brainstem-dysgenesis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8334/amish-nemaline-myopathy
https://rarediseases.info.nih.gov/diseases/8334/amish-nemaline-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/8337/igg4-related-mediastinitis
https://rarediseases.info.nih.gov/diseases/8337/igg4-related-mediastinitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8338/phace-syndrome
https://rarediseases.info.nih.gov/diseases/8338/phace-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8341/marinesco-sjgren-syndrome
https://rarediseases.info.nih.gov/diseases/8341/marinesco-sjgren-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8343/spondylometaphyseal-dysplasia-golden-type
https://rarediseases.info.nih.gov/diseases/8343/spondylometaphyseal-dysplasia-golden-type/diagnosis
https://rarediseases.info.nih.gov/diseases/8344/abri-amyloidosis
https://rarediseases.info.nih.gov/diseases/8344/abri-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder
https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/8349/hypomaturation-amelogenesis-imperfecta
https://rarediseases.info.nih.gov/diseases/8349/hypomaturation-amelogenesis-imperfecta/diagnosis
https://rarediseases.info.nih.gov/diseases/835/congenital-muscular-dystrophy-infantile-cataract-hypogonadism-syndrome
https://rarediseases.info.nih.gov/diseases/835/congenital-muscular-dystrophy-infantile-cataract-hypogonadism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis
https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis
https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis/diagnosis
https://rarediseases.info.nih.gov/diseases/836/epilepsy-microcephaly-skeletal-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/836/epilepsy-microcephaly-skeletal-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8360/x-linked-intellectual-disability-retinitis-pigmentosa-syndrome
https://rarediseases.info.nih.gov/diseases/8360/x-linked-intellectual-disability-retinitis-pigmentosa-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8367/autosomal-recessive-kenny-caffey-syndrome
https://rarediseases.info.nih.gov/diseases/8367/autosomal-recessive-kenny-caffey-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8370/congenital-lactic-acidosis-saguenay-lac-saint-jean-type
https://rarediseases.info.nih.gov/diseases/8370/congenital-lactic-acidosis-saguenay-lac-saint-jean-type/diagnosis
https://rarediseases.info.nih.gov/diseases/8371/baritosis
https://rarediseases.info.nih.gov/diseases/8371/baritosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8372/silicosiderosis
https://rarediseases.info.nih.gov/diseases/8372/silicosiderosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8374/labrador-lung
https://rarediseases.info.nih.gov/diseases/8374/labrador-lung/diagnosis
https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease
https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/838/bazex-dupr-christol-syndrome
https://rarediseases.info.nih.gov/diseases/838/bazex-dupr-christol-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8380/generalized-arterial-calcification-of-infancy
https://rarediseases.info.nih.gov/diseases/8380/generalized-arterial-calcification-of-infancy/diagnosis
https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency
https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/8387/3-hydroxy-3-methylglutaric-aciduria
https://rarediseases.info.nih.gov/diseases/8387/3-hydroxy-3-methylglutaric-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/8391/ornithine-transcarbamylase-deficiency
https://rarediseases.info.nih.gov/diseases/8391/ornithine-transcarbamylase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia
https://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8397/brain-demyelination-due-to-methionine-adenosyltransferase-deficiency
https://rarediseases.info.nih.gov/diseases/8397/brain-demyelination-due-to-methionine-adenosyltransferase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/84/lipodystrophy-congenital-generalized-type-1
https://rarediseases.info.nih.gov/diseases/84/lipodystrophy-congenital-generalized-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia
https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8406/spermatogenic-failure-x-linked-1
https://rarediseases.info.nih.gov/diseases/8406/spermatogenic-failure-x-linked-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8407/feingold-syndrome
https://rarediseases.info.nih.gov/diseases/8407/feingold-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8410/postaxial-acrofacial-dysostosis
https://rarediseases.info.nih.gov/diseases/8410/postaxial-acrofacial-dysostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8414/van-der-woude-syndrome
https://rarediseases.info.nih.gov/diseases/8414/van-der-woude-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8416/focal-facial-dermal-dysplasia
https://rarediseases.info.nih.gov/diseases/8416/focal-facial-dermal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8419/isolated-optic-nerve-hypoplasiaaplasia
https://rarediseases.info.nih.gov/diseases/8419/isolated-optic-nerve-hypoplasiaaplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/842/ankylosing-vertebral-hyperostosis-with-tylosis
https://rarediseases.info.nih.gov/diseases/842/ankylosing-vertebral-hyperostosis-with-tylosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8421/tetrasomy-12p
https://rarediseases.info.nih.gov/diseases/8421/tetrasomy-12p/diagnosis
https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome
https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8423/richards-rundle-syndrome
https://rarediseases.info.nih.gov/diseases/8423/richards-rundle-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria
https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria/diagnosis
https://rarediseases.info.nih.gov/diseases/8426/thyroid-hypoplasia
https://rarediseases.info.nih.gov/diseases/8426/thyroid-hypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8427/immunodeficiency-by-defective-expression-of-mhc-class-i
https://rarediseases.info.nih.gov/diseases/8427/immunodeficiency-by-defective-expression-of-mhc-class-i/diagnosis
https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome
https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia
https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia/diagnosis
https://rarediseases.info.nih.gov/diseases/8432/stac3-disorder
https://rarediseases.info.nih.gov/diseases/8432/stac3-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/8433/king-denborough-syndrome
https://rarediseases.info.nih.gov/diseases/8433/king-denborough-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8435/persistent-mllerian-duct-syndrome
https://rarediseases.info.nih.gov/diseases/8435/persistent-mllerian-duct-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8436/frontotemporal-dementia
https://rarediseases.info.nih.gov/diseases/8436/frontotemporal-dementia/diagnosis
https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis
https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome
https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8457/tumor-necrosis-factor-receptor-1-associated-periodic-syndrome
https://rarediseases.info.nih.gov/diseases/8457/tumor-necrosis-factor-receptor-1-associated-periodic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome
https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyendocrinopathy-type-1
https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyendocrinopathy-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8468/melanoma-and-neural-system-tumor-syndrome
https://rarediseases.info.nih.gov/diseases/8468/melanoma-and-neural-system-tumor-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8471/x-linked-recessive-ocular-albinism
https://rarediseases.info.nih.gov/diseases/8471/x-linked-recessive-ocular-albinism/diagnosis
https://rarediseases.info.nih.gov/diseases/8472/muckle-wells-syndrome
https://rarediseases.info.nih.gov/diseases/8472/muckle-wells-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8476/leber-plus-disease
https://rarediseases.info.nih.gov/diseases/8476/leber-plus-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8479/familial-multiple-discoid-fibromas
https://rarediseases.info.nih.gov/diseases/8479/familial-multiple-discoid-fibromas/diagnosis
https://rarediseases.info.nih.gov/diseases/848/behet-disease
https://rarediseases.info.nih.gov/diseases/848/behet-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8480/autosomal-recessive-cutis-laxa-type-1
https://rarediseases.info.nih.gov/diseases/8480/autosomal-recessive-cutis-laxa-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome
https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8486/musculocontractural-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/8486/musculocontractural-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis
https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8488/familial-papillary-or-follicular-thyroid-carcinoma
https://rarediseases.info.nih.gov/diseases/8488/familial-papillary-or-follicular-thyroid-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8489/mass-phenotype
https://rarediseases.info.nih.gov/diseases/8489/mass-phenotype/diagnosis
https://rarediseases.info.nih.gov/diseases/849/behr-syndrome
https://rarediseases.info.nih.gov/diseases/849/behr-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8491/meningioma-radiation-induced
https://rarediseases.info.nih.gov/diseases/8491/meningioma-radiation-induced/diagnosis
https://rarediseases.info.nih.gov/diseases/8495/african-iron-overload
https://rarediseases.info.nih.gov/diseases/8495/african-iron-overload/diagnosis
https://rarediseases.info.nih.gov/diseases/85/thanatophoric-dysplasia
https://rarediseases.info.nih.gov/diseases/85/thanatophoric-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8501/white-sponge-nevus
https://rarediseases.info.nih.gov/diseases/8501/white-sponge-nevus/diagnosis
https://rarediseases.info.nih.gov/diseases/8503/squamous-cell-carcinoma-of-the-head-and-neck
https://rarediseases.info.nih.gov/diseases/8503/squamous-cell-carcinoma-of-the-head-and-neck/diagnosis
https://rarediseases.info.nih.gov/diseases/8505/x-linked-ehlers-danlos-syndrome
https://rarediseases.info.nih.gov/diseases/8505/x-linked-ehlers-danlos-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8507/classical-like-ehlers-danlos-syndrome-type-1
https://rarediseases.info.nih.gov/diseases/8507/classical-like-ehlers-danlos-syndrome-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8508/ehlers-danlos-syndrome-dysfibronectinemic-type
https://rarediseases.info.nih.gov/diseases/8508/ehlers-danlos-syndrome-dysfibronectinemic-type/diagnosis
https://rarediseases.info.nih.gov/diseases/8509/aredyld-syndrome
https://rarediseases.info.nih.gov/diseases/8509/aredyld-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia
https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia/diagnosis
https://rarediseases.info.nih.gov/diseases/8517/huriez-syndrome
https://rarediseases.info.nih.gov/diseases/8517/huriez-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8520/x-linked-intellectual-disability-dandy-walker-malformation-basal-ganglia-disease-seizures-syndrome
https://rarediseases.info.nih.gov/diseases/8520/x-linked-intellectual-disability-dandy-walker-malformation-basal-ganglia-disease-seizures-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8521/infantile-onset-x-linked-spinal-muscular-atrophy
https://rarediseases.info.nih.gov/diseases/8521/infantile-onset-x-linked-spinal-muscular-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis
https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome
https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8529/macrodactyly-of-fingers
https://rarediseases.info.nih.gov/diseases/8529/macrodactyly-of-fingers/diagnosis
https://rarediseases.info.nih.gov/diseases/853/cloverleaf-skull-asphyxiating-thoracic-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/853/cloverleaf-skull-asphyxiating-thoracic-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8532/attenuated-familial-adenomatous-polyposis
https://rarediseases.info.nih.gov/diseases/8532/attenuated-familial-adenomatous-polyposis/diagnosis
https://rarediseases.info.nih.gov/diseases/8533/hereditary-nonpolyposis-colon-cancer
https://rarediseases.info.nih.gov/diseases/8533/hereditary-nonpolyposis-colon-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis
https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome
https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8538/46xy-disorder-of-sex-development
https://rarediseases.info.nih.gov/diseases/8538/46xy-disorder-of-sex-development/diagnosis
https://rarediseases.info.nih.gov/diseases/8539/urocanic-aciduria
https://rarediseases.info.nih.gov/diseases/8539/urocanic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/8541/primary-progressive-aphasia
https://rarediseases.info.nih.gov/diseases/8541/primary-progressive-aphasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8542/chondrodysplasia-punctata
https://rarediseases.info.nih.gov/diseases/8542/chondrodysplasia-punctata/diagnosis
https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome
https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8549/moebius-syndrome
https://rarediseases.info.nih.gov/diseases/8549/moebius-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis
https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis/diagnosis
https://rarediseases.info.nih.gov/diseases/8553/infantile-convulsions-and-choreoathetosis
https://rarediseases.info.nih.gov/diseases/8553/infantile-convulsions-and-choreoathetosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8555/dense-deposit-disease
https://rarediseases.info.nih.gov/diseases/8555/dense-deposit-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8559/wilms-tumor-2
https://rarediseases.info.nih.gov/diseases/8559/wilms-tumor-2/diagnosis
https://rarediseases.info.nih.gov/diseases/856/seizures-benign-familial-infantile-1
https://rarediseases.info.nih.gov/diseases/856/seizures-benign-familial-infantile-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome
https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8562/seckel-syndrome
https://rarediseases.info.nih.gov/diseases/8562/seckel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor
https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor/diagnosis
https://rarediseases.info.nih.gov/diseases/8564/fetal-cystic-hygroma
https://rarediseases.info.nih.gov/diseases/8564/fetal-cystic-hygroma/diagnosis
https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas
https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas/diagnosis
https://rarediseases.info.nih.gov/diseases/857/benign-familial-infantile-epilepsy
https://rarediseases.info.nih.gov/diseases/857/benign-familial-infantile-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/8570/steroid-responsive-encephalopathy-associated-with-autoimmune-thyroiditis
https://rarediseases.info.nih.gov/diseases/8570/steroid-responsive-encephalopathy-associated-with-autoimmune-thyroiditis/diagnosis
https://rarediseases.info.nih.gov/diseases/8573/delta-sarcoglycan-related-limb-girdle-muscular-dystrophy-r6
https://rarediseases.info.nih.gov/diseases/8573/delta-sarcoglycan-related-limb-girdle-muscular-dystrophy-r6/diagnosis
https://rarediseases.info.nih.gov/diseases/8574/dysferlin-related-limb-girdle-muscular-dystrophy-r2
https://rarediseases.info.nih.gov/diseases/8574/dysferlin-related-limb-girdle-muscular-dystrophy-r2/diagnosis
https://rarediseases.info.nih.gov/diseases/8575/myasthenia-gravis-limb-girdle
https://rarediseases.info.nih.gov/diseases/8575/myasthenia-gravis-limb-girdle/diagnosis
https://rarediseases.info.nih.gov/diseases/8577/panuveitis
https://rarediseases.info.nih.gov/diseases/8577/panuveitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8578/parkinson-disease-3-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/8578/parkinson-disease-3-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/8583/isolated-hereditary-congenital-facial-paralysis
https://rarediseases.info.nih.gov/diseases/8583/isolated-hereditary-congenital-facial-paralysis/diagnosis
https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome
https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8585/cant-syndrome
https://rarediseases.info.nih.gov/diseases/8585/cant-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8586/cardiocranial-syndrome-pfeiffer-type
https://rarediseases.info.nih.gov/diseases/8586/cardiocranial-syndrome-pfeiffer-type/diagnosis
https://rarediseases.info.nih.gov/diseases/8588/hypercholesterolemia-familial-2
https://rarediseases.info.nih.gov/diseases/8588/hypercholesterolemia-familial-2/diagnosis
https://rarediseases.info.nih.gov/diseases/8592/spinal-muscular-atrophy-with-respiratory-distress-type-1
https://rarediseases.info.nih.gov/diseases/8592/spinal-muscular-atrophy-with-respiratory-distress-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome
https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8595/ataxia-with-vitamin-e-deficiency
https://rarediseases.info.nih.gov/diseases/8595/ataxia-with-vitamin-e-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/8598/gastrointestinal-stromal-tumor
https://rarediseases.info.nih.gov/diseases/8598/gastrointestinal-stromal-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/86/chudley-mccullough-syndrome
https://rarediseases.info.nih.gov/diseases/86/chudley-mccullough-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/860/cryptorchidism-arachnodactyly-intellectual-disability-syndrome
https://rarediseases.info.nih.gov/diseases/860/cryptorchidism-arachnodactyly-intellectual-disability-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8600/saldino-mainzer-syndrome
https://rarediseases.info.nih.gov/diseases/8600/saldino-mainzer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema
https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema/diagnosis
https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly
https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly/diagnosis
https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis
https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome
https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8614/sickle-cell-anemia
https://rarediseases.info.nih.gov/diseases/8614/sickle-cell-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8616/systemic-mastocytosis
https://rarediseases.info.nih.gov/diseases/8616/systemic-mastocytosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8618/primary-myelofibrosis
https://rarediseases.info.nih.gov/diseases/8618/primary-myelofibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8620/glomus-vagale-tumor
https://rarediseases.info.nih.gov/diseases/8620/glomus-vagale-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/8621/uveal-melanoma
https://rarediseases.info.nih.gov/diseases/8621/uveal-melanoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8622/good-syndrome
https://rarediseases.info.nih.gov/diseases/8622/good-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8623/microcephaly-cleft-palate-abnormal-retinal-pigmentation-syndrome
https://rarediseases.info.nih.gov/diseases/8623/microcephaly-cleft-palate-abnormal-retinal-pigmentation-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis
https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/8627/krukenberg-carcinoma
https://rarediseases.info.nih.gov/diseases/8627/krukenberg-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis
https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/863/iga-nephropathy
https://rarediseases.info.nih.gov/diseases/863/iga-nephropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/8638/acute-leukemia-of-ambiguous-lineage
https://rarediseases.info.nih.gov/diseases/8638/acute-leukemia-of-ambiguous-lineage/diagnosis
https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis
https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy
https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/8644/congenital-alveolar-capillary-dysplasia
https://rarediseases.info.nih.gov/diseases/8644/congenital-alveolar-capillary-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma
https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma/diagnosis
https://rarediseases.info.nih.gov/diseases/8650/embryonal-sarcoma
https://rarediseases.info.nih.gov/diseases/8650/embryonal-sarcoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum
https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum/diagnosis
https://rarediseases.info.nih.gov/diseases/8658/glomus-tympanicum-tumor
https://rarediseases.info.nih.gov/diseases/8658/glomus-tympanicum-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/8659/fibular-hemimelia
https://rarediseases.info.nih.gov/diseases/8659/fibular-hemimelia/diagnosis
https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome
https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8661/gastroschisis
https://rarediseases.info.nih.gov/diseases/8661/gastroschisis/diagnosis
https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia
https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion
https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion/diagnosis
https://rarediseases.info.nih.gov/diseases/867/chronic-beryllium-disease
https://rarediseases.info.nih.gov/diseases/867/chronic-beryllium-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome
https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8676/weber-syndrome
https://rarediseases.info.nih.gov/diseases/8676/weber-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/8686/autoimmune-lymphoproliferative-syndrome
https://rarediseases.info.nih.gov/diseases/8686/autoimmune-lymphoproliferative-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8689/severe-immune-mediated-enteropathy
https://rarediseases.info.nih.gov/diseases/8689/severe-immune-mediated-enteropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/869/beta-mannosidosis
https://rarediseases.info.nih.gov/diseases/869/beta-mannosidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/8692/whooping-cough
https://rarediseases.info.nih.gov/diseases/8692/whooping-cough/diagnosis
https://rarediseases.info.nih.gov/diseases/8694/osteogenesis-imperfecta-type-1
https://rarediseases.info.nih.gov/diseases/8694/osteogenesis-imperfecta-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/8695/osteogenesis-imperfecta-type-3
https://rarediseases.info.nih.gov/diseases/8695/osteogenesis-imperfecta-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/8696/osteogenesis-imperfecta-type-4
https://rarediseases.info.nih.gov/diseases/8696/osteogenesis-imperfecta-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/8698/gnathodiaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/8698/gnathodiaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8699/osteogenesis-imperfecta-type-5
https://rarediseases.info.nih.gov/diseases/8699/osteogenesis-imperfecta-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/87/microphthalmia-lenz-type
https://rarediseases.info.nih.gov/diseases/87/microphthalmia-lenz-type/diagnosis
https://rarediseases.info.nih.gov/diseases/8700/osteogenesis-imperfecta-type-vi
https://rarediseases.info.nih.gov/diseases/8700/osteogenesis-imperfecta-type-vi/diagnosis
https://rarediseases.info.nih.gov/diseases/8701/osteogenesis-imperfecta-type-vii
https://rarediseases.info.nih.gov/diseases/8701/osteogenesis-imperfecta-type-vii/diagnosis
https://rarediseases.info.nih.gov/diseases/8702/atypical-hemolytic-uremic-syndrome
https://rarediseases.info.nih.gov/diseases/8702/atypical-hemolytic-uremic-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system
https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system/diagnosis
https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system
https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system/diagnosis
https://rarediseases.info.nih.gov/diseases/8707/tibial-hemimelia
https://rarediseases.info.nih.gov/diseases/8707/tibial-hemimelia/diagnosis
https://rarediseases.info.nih.gov/diseases/8709/patella-aplasiahypoplasia
https://rarediseases.info.nih.gov/diseases/8709/patella-aplasiahypoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/871/beta-thalassemia
https://rarediseases.info.nih.gov/diseases/871/beta-thalassemia/diagnosis
https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy
https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/8717/odontochondrodysplasia
https://rarediseases.info.nih.gov/diseases/8717/odontochondrodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8719/spondylometaphyseal-dysplasia-bowed-forearms-facial-dysmorphism-syndrome
https://rarediseases.info.nih.gov/diseases/8719/spondylometaphyseal-dysplasia-bowed-forearms-facial-dysmorphism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/872/beta-ketothiolase-deficiency
https://rarediseases.info.nih.gov/diseases/872/beta-ketothiolase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia
https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8721/paroxysmal-kinesigenic-dyskinesia
https://rarediseases.info.nih.gov/diseases/8721/paroxysmal-kinesigenic-dyskinesia/diagnosis
https://rarediseases.info.nih.gov/diseases/8722/paroxysmal-non-kinesigenic-dyskinesia
https://rarediseases.info.nih.gov/diseases/8722/paroxysmal-non-kinesigenic-dyskinesia/diagnosis
https://rarediseases.info.nih.gov/diseases/8723/myelodysplastic-syndrome-associated-with-isolated-del5q-chromosome-abnormality
https://rarediseases.info.nih.gov/diseases/8723/myelodysplastic-syndrome-associated-with-isolated-del5q-chromosome-abnormality/diagnosis
https://rarediseases.info.nih.gov/diseases/8729/neurosyphilis
https://rarediseases.info.nih.gov/diseases/8729/neurosyphilis/diagnosis
https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy
https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/8730/syphilitic-myelopathy
https://rarediseases.info.nih.gov/diseases/8730/syphilitic-myelopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/8731/syphilitic-aseptic-meningitis
https://rarediseases.info.nih.gov/diseases/8731/syphilitic-aseptic-meningitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b
https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b/diagnosis
https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia
https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia/diagnosis
https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis
https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia
https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/8755/arrhinia-choanal-atresia-microphthalmia-syndrome
https://rarediseases.info.nih.gov/diseases/8755/arrhinia-choanal-atresia-microphthalmia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/8756/lethal-ataxia-with-deafness-and-optic-atrophy
https://rarediseases.info.nih.gov/diseases/8756/lethal-ataxia-with-deafness-and-optic-atrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/8757/pleuropulmonary-blastoma
https://rarediseases.info.nih.gov/diseases/8757/pleuropulmonary-blastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid
https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid/diagnosis
https://rarediseases.info.nih.gov/diseases/8761/keshan-disease
https://rarediseases.info.nih.gov/diseases/8761/keshan-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis
https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis/diagnosis
https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/884/bifid-nose
https://rarediseases.info.nih.gov/diseases/884/bifid-nose/diagnosis
https://rarediseases.info.nih.gov/diseases/89/gastric-non-hodgkin-lymphoma
https://rarediseases.info.nih.gov/diseases/89/gastric-non-hodgkin-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/893/fallot-complex-intellectual-disability-growth-delay-syndrome
https://rarediseases.info.nih.gov/diseases/893/fallot-complex-intellectual-disability-growth-delay-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/894/biotinidase-deficiency
https://rarediseases.info.nih.gov/diseases/894/biotinidase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/895/microcephalic-primordial-dwarfism-montreal-type
https://rarediseases.info.nih.gov/diseases/895/microcephalic-primordial-dwarfism-montreal-type/diagnosis
https://rarediseases.info.nih.gov/diseases/897/hypertelorism-microtia-facial-clefting-syndrome
https://rarediseases.info.nih.gov/diseases/897/hypertelorism-microtia-facial-clefting-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/905/blepharophimosis-ptosis-esotropia-syndactyly-short-stature-syndrome
https://rarediseases.info.nih.gov/diseases/905/blepharophimosis-ptosis-esotropia-syndactyly-short-stature-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/91/malignant-melanoma-childhood
https://rarediseases.info.nih.gov/diseases/91/malignant-melanoma-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-renotubular-syndrome
https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-renotubular-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9119/pulmonary-agenesis
https://rarediseases.info.nih.gov/diseases/9119/pulmonary-agenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/912/blepharoptosis-myopia-ectopia-lentis-syndrome
https://rarediseases.info.nih.gov/diseases/912/blepharoptosis-myopia-ectopia-lentis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome
https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3
https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3/diagnosis
https://rarediseases.info.nih.gov/diseases/9126/agnathia-holoprosencephaly-situs-inversus-syndrome
https://rarediseases.info.nih.gov/diseases/9126/agnathia-holoprosencephaly-situs-inversus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9128/idiopathic-inflammatory-myopathy
https://rarediseases.info.nih.gov/diseases/9128/idiopathic-inflammatory-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9129/minicore-myopathy-antenatal-onset-with-arthrogryposis
https://rarediseases.info.nih.gov/diseases/9129/minicore-myopathy-antenatal-onset-with-arthrogryposis/diagnosis
https://rarediseases.info.nih.gov/diseases/9131/infective-myositis
https://rarediseases.info.nih.gov/diseases/9131/infective-myositis/diagnosis
https://rarediseases.info.nih.gov/diseases/9134/congenital-myotonic-dystrophy
https://rarediseases.info.nih.gov/diseases/9134/congenital-myotonic-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9136/ocular-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/9136/ocular-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9138/congenital-muscular-dystrophy
https://rarediseases.info.nih.gov/diseases/9138/congenital-muscular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/914/blomstrand-lethal-chondrodysplasia
https://rarediseases.info.nih.gov/diseases/914/blomstrand-lethal-chondrodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9142/eosinophilic-gastroenteritis
https://rarediseases.info.nih.gov/diseases/9142/eosinophilic-gastroenteritis/diagnosis
https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea
https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea/diagnosis
https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/9145/renal-pseudohypoaldosteronism-type-1
https://rarediseases.info.nih.gov/diseases/9145/renal-pseudohypoaldosteronism-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9146/cardiofaciocutaneous-syndrome
https://rarediseases.info.nih.gov/diseases/9146/cardiofaciocutaneous-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9147/minimal-change-disease
https://rarediseases.info.nih.gov/diseases/9147/minimal-change-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9148/pelger-huet-anomaly
https://rarediseases.info.nih.gov/diseases/9148/pelger-huet-anomaly/diagnosis
https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome
https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9152/congenital-adrenal-hyperplasia-due-to-3-beta-hydroxysteroid-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/9152/congenital-adrenal-hyperplasia-due-to-3-beta-hydroxysteroid-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9156/syndromic-x-linked-intellectual-disability-7
https://rarediseases.info.nih.gov/diseases/9156/syndromic-x-linked-intellectual-disability-7/diagnosis
https://rarediseases.info.nih.gov/diseases/9157/x-linked-intellectual-disability-abidi-type
https://rarediseases.info.nih.gov/diseases/9157/x-linked-intellectual-disability-abidi-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy
https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9159/46xy-sex-reversal-2
https://rarediseases.info.nih.gov/diseases/9159/46xy-sex-reversal-2/diagnosis
https://rarediseases.info.nih.gov/diseases/916/blount-disease
https://rarediseases.info.nih.gov/diseases/916/blount-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9161/alpha-n-acetylgalactosaminidase-deficiency-type-2
https://rarediseases.info.nih.gov/diseases/9161/alpha-n-acetylgalactosaminidase-deficiency-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome
https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease
https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9165/rippling-muscle-disease-1
https://rarediseases.info.nih.gov/diseases/9165/rippling-muscle-disease-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9166/deafness-autosomal-dominant-24
https://rarediseases.info.nih.gov/diseases/9166/deafness-autosomal-dominant-24/diagnosis
https://rarediseases.info.nih.gov/diseases/9167/deafness-autosomal-dominant-22
https://rarediseases.info.nih.gov/diseases/9167/deafness-autosomal-dominant-22/diagnosis
https://rarediseases.info.nih.gov/diseases/9168/familial-expansile-osteolysis
https://rarediseases.info.nih.gov/diseases/9168/familial-expansile-osteolysis/diagnosis
https://rarediseases.info.nih.gov/diseases/9169/adan-amyloidosis
https://rarediseases.info.nih.gov/diseases/9169/adan-amyloidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism
https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism/diagnosis
https://rarediseases.info.nih.gov/diseases/9170/hypotrichosis-simplex
https://rarediseases.info.nih.gov/diseases/9170/hypotrichosis-simplex/diagnosis
https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma
https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9172/palmoplantar-keratoderma-i-striate-focal-or-diffuse
https://rarediseases.info.nih.gov/diseases/9172/palmoplantar-keratoderma-i-striate-focal-or-diffuse/diagnosis
https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-iii
https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-iii/diagnosis
https://rarediseases.info.nih.gov/diseases/9174/kufor-rakeb-syndrome
https://rarediseases.info.nih.gov/diseases/9174/kufor-rakeb-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9175/parkinsonian-pyramidal-syndrome
https://rarediseases.info.nih.gov/diseases/9175/parkinsonian-pyramidal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9176/pyogenic-arthritis-pyoderma-gangrenosum-acne-syndrome
https://rarediseases.info.nih.gov/diseases/9176/pyogenic-arthritis-pyoderma-gangrenosum-acne-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/9178/mehmo-syndrome
https://rarediseases.info.nih.gov/diseases/9178/mehmo-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy
https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/918/brachymorphism-onychodysplasia-dysphalangism-syndrome
https://rarediseases.info.nih.gov/diseases/918/brachymorphism-onychodysplasia-dysphalangism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9180/primary-membranous-glomerulonephritis
https://rarediseases.info.nih.gov/diseases/9180/primary-membranous-glomerulonephritis/diagnosis
https://rarediseases.info.nih.gov/diseases/9181/familial-abdominal-aortic-aneurysm
https://rarediseases.info.nih.gov/diseases/9181/familial-abdominal-aortic-aneurysm/diagnosis
https://rarediseases.info.nih.gov/diseases/9182/okihiro-syndrome
https://rarediseases.info.nih.gov/diseases/9182/okihiro-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9184/progressive-pseudorheumatoid-arthropathy-of-childhood
https://rarediseases.info.nih.gov/diseases/9184/progressive-pseudorheumatoid-arthropathy-of-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d
https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d/diagnosis
https://rarediseases.info.nih.gov/diseases/9190/charcot-marie-tooth-disease-type-1e
https://rarediseases.info.nih.gov/diseases/9190/charcot-marie-tooth-disease-type-1e/diagnosis
https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f
https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f/diagnosis
https://rarediseases.info.nih.gov/diseases/9192/autosomal-dominant-charcot-marie-tooth-disease-type-2b
https://rarediseases.info.nih.gov/diseases/9192/autosomal-dominant-charcot-marie-tooth-disease-type-2b/diagnosis
https://rarediseases.info.nih.gov/diseases/9193/autosomal-dominant-charcot-marie-tooth-disease-type-2e
https://rarediseases.info.nih.gov/diseases/9193/autosomal-dominant-charcot-marie-tooth-disease-type-2e/diagnosis
https://rarediseases.info.nih.gov/diseases/9194/autosomal-dominant-charcot-marie-tooth-disease-type-2f
https://rarediseases.info.nih.gov/diseases/9194/autosomal-dominant-charcot-marie-tooth-disease-type-2f/diagnosis
https://rarediseases.info.nih.gov/diseases/9196/charcot-marie-tooth-disease-type-2h
https://rarediseases.info.nih.gov/diseases/9196/charcot-marie-tooth-disease-type-2h/diagnosis
https://rarediseases.info.nih.gov/diseases/9197/autosomal-dominant-charcot-marie-tooth-disease-type-2i
https://rarediseases.info.nih.gov/diseases/9197/autosomal-dominant-charcot-marie-tooth-disease-type-2i/diagnosis
https://rarediseases.info.nih.gov/diseases/9198/autosomal-dominant-charcot-marie-tooth-disease-type-2j
https://rarediseases.info.nih.gov/diseases/9198/autosomal-dominant-charcot-marie-tooth-disease-type-2j/diagnosis
https://rarediseases.info.nih.gov/diseases/92/mal-de-meleda
https://rarediseases.info.nih.gov/diseases/92/mal-de-meleda/diagnosis
https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2
https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2/diagnosis
https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c
https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c/diagnosis
https://rarediseases.info.nih.gov/diseases/9203/charcot-marie-tooth-disease-type-4e
https://rarediseases.info.nih.gov/diseases/9203/charcot-marie-tooth-disease-type-4e/diagnosis
https://rarediseases.info.nih.gov/diseases/9204/dejerine-sottas-syndrome
https://rarediseases.info.nih.gov/diseases/9204/dejerine-sottas-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9206/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-f
https://rarediseases.info.nih.gov/diseases/9206/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-f/diagnosis
https://rarediseases.info.nih.gov/diseases/9207/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-d
https://rarediseases.info.nih.gov/diseases/9207/autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-d/diagnosis
https://rarediseases.info.nih.gov/diseases/9208/hereditary-motor-and-sensory-neuropathy-type-5
https://rarediseases.info.nih.gov/diseases/9208/hereditary-motor-and-sensory-neuropathy-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome
https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9212/phocomelia-schinzel-type
https://rarediseases.info.nih.gov/diseases/9212/phocomelia-schinzel-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9217/lymphedema-cerebral-arteriovenous-anomaly-syndrome
https://rarediseases.info.nih.gov/diseases/9217/lymphedema-cerebral-arteriovenous-anomaly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type
https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9221/asternia
https://rarediseases.info.nih.gov/diseases/9221/asternia/diagnosis
https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome
https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9228/renal-agenesis
https://rarediseases.info.nih.gov/diseases/9228/renal-agenesis/diagnosis
https://rarediseases.info.nih.gov/diseases/9232/arnold-chiari-malformation-type-ii
https://rarediseases.info.nih.gov/diseases/9232/arnold-chiari-malformation-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/9233/arnold-chiari-malformation-type-i
https://rarediseases.info.nih.gov/diseases/9233/arnold-chiari-malformation-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/9237/severe-acute-respiratory-syndrome
https://rarediseases.info.nih.gov/diseases/9237/severe-acute-respiratory-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9239/parkinson-dementia-complex-of-guam
https://rarediseases.info.nih.gov/diseases/9239/parkinson-dementia-complex-of-guam/diagnosis
https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia
https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9242/familial-advanced-sleep-phase-syndrome
https://rarediseases.info.nih.gov/diseases/9242/familial-advanced-sleep-phase-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9244/cervical-intraepithelial-neoplasia
https://rarediseases.info.nih.gov/diseases/9244/cervical-intraepithelial-neoplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma
https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9252/tubulointerstitial-nephritis-and-uveitis-syndrome
https://rarediseases.info.nih.gov/diseases/9252/tubulointerstitial-nephritis-and-uveitis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum
https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum/diagnosis
https://rarediseases.info.nih.gov/diseases/9255/early-infantile-epileptic-encephalopathy
https://rarediseases.info.nih.gov/diseases/9255/early-infantile-epileptic-encephalopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9256/dyssynergia-cerebellaris-myoclonica
https://rarediseases.info.nih.gov/diseases/9256/dyssynergia-cerebellaris-myoclonica/diagnosis
https://rarediseases.info.nih.gov/diseases/9257/sunct-syndrome
https://rarediseases.info.nih.gov/diseases/9257/sunct-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9265/classic-glucose-transporter-type-1-deficiency-syndrome
https://rarediseases.info.nih.gov/diseases/9265/classic-glucose-transporter-type-1-deficiency-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9266/cutaneous-neuroendocrine-carcinoma
https://rarediseases.info.nih.gov/diseases/9266/cutaneous-neuroendocrine-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1
https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9269/androgenetic-alopecia
https://rarediseases.info.nih.gov/diseases/9269/androgenetic-alopecia/diagnosis
https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy-spectrum-disorder
https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy-spectrum-disorder/diagnosis
https://rarediseases.info.nih.gov/diseases/9275/thiel-behnke-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/9275/thiel-behnke-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9276/reis-bcklers-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/9276/reis-bcklers-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9277/schnyder-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/9277/schnyder-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9278/granular-corneal-dystrophy-type-ii
https://rarediseases.info.nih.gov/diseases/9278/granular-corneal-dystrophy-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/9279/formiminoglutamic-aciduria
https://rarediseases.info.nih.gov/diseases/9279/formiminoglutamic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/9280/cholestasis-pigmentary-retinopathy-cleft-palate-syndrome
https://rarediseases.info.nih.gov/diseases/9280/cholestasis-pigmentary-retinopathy-cleft-palate-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9281/familial-atypical-multiple-mole-melanoma-syndrome
https://rarediseases.info.nih.gov/diseases/9281/familial-atypical-multiple-mole-melanoma-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome
https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1
https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9285/amoebic-keratitis
https://rarediseases.info.nih.gov/diseases/9285/amoebic-keratitis/diagnosis
https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-i
https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/9288/x-linked-intellectual-disability-schimke-type
https://rarediseases.info.nih.gov/diseases/9288/x-linked-intellectual-disability-schimke-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia
https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-brain-atrophy-syndrome
https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-brain-atrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome
https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9295/thanatophoric-dysplasia-type-1
https://rarediseases.info.nih.gov/diseases/9295/thanatophoric-dysplasia-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9296/autosomal-recessive-spastic-paraplegia-type-24
https://rarediseases.info.nih.gov/diseases/9296/autosomal-recessive-spastic-paraplegia-type-24/diagnosis
https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome
https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy
https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/9299/acute-ackee-fruit-intoxication
https://rarediseases.info.nih.gov/diseases/9299/acute-ackee-fruit-intoxication/diagnosis
https://rarediseases.info.nih.gov/diseases/93/monilethrix
https://rarediseases.info.nih.gov/diseases/93/monilethrix/diagnosis
https://rarediseases.info.nih.gov/diseases/9301/cerebellar-astrocytoma-childhood
https://rarediseases.info.nih.gov/diseases/9301/cerebellar-astrocytoma-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood
https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9304/cholangiocarcinoma
https://rarediseases.info.nih.gov/diseases/9304/cholangiocarcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma
https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma/diagnosis
https://rarediseases.info.nih.gov/diseases/9309/visual-pathway-and-hypothalamic-glioma-childhood
https://rarediseases.info.nih.gov/diseases/9309/visual-pathway-and-hypothalamic-glioma-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood
https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9316/neuroendocrine-neoplasm
https://rarediseases.info.nih.gov/diseases/9316/neuroendocrine-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/9318/primary-central-nervous-system-lymphoma
https://rarediseases.info.nih.gov/diseases/9318/primary-central-nervous-system-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9319/myeloproliferative-neoplasm
https://rarediseases.info.nih.gov/diseases/9319/myeloproliferative-neoplasm/diagnosis
https://rarediseases.info.nih.gov/diseases/932/bk-syndrome
https://rarediseases.info.nih.gov/diseases/932/bk-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9325/extragonadal-germ-cell-tumor
https://rarediseases.info.nih.gov/diseases/9325/extragonadal-germ-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/9328/gallbladder-cancer
https://rarediseases.info.nih.gov/diseases/9328/gallbladder-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia
https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9330/malignant-germ-cell-tumor-of-ovary
https://rarediseases.info.nih.gov/diseases/9330/malignant-germ-cell-tumor-of-ovary/diagnosis
https://rarediseases.info.nih.gov/diseases/9331/pediatric-hepatocellular-carcinoma
https://rarediseases.info.nih.gov/diseases/9331/pediatric-hepatocellular-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer
https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/9344/small-cell-lung-cancer
https://rarediseases.info.nih.gov/diseases/9344/small-cell-lung-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/9348/vaginal-carcinoma
https://rarediseases.info.nih.gov/diseases/9348/vaginal-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9349/vulvar-carcinoma
https://rarediseases.info.nih.gov/diseases/9349/vulvar-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood
https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9351/myelodysplasticmyeloproliferative-disease
https://rarediseases.info.nih.gov/diseases/9351/myelodysplasticmyeloproliferative-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9354/paranasal-sinus-cancer-adult
https://rarediseases.info.nih.gov/diseases/9354/paranasal-sinus-cancer-adult/diagnosis
https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome
https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9362/malignant-epithelial-tumor-of-ovary
https://rarediseases.info.nih.gov/diseases/9362/malignant-epithelial-tumor-of-ovary/diagnosis
https://rarediseases.info.nih.gov/diseases/9363/borderline-epithelial-tumor-of-ovary
https://rarediseases.info.nih.gov/diseases/9363/borderline-epithelial-tumor-of-ovary/diagnosis
https://rarediseases.info.nih.gov/diseases/9366/malignant-tumor-of-penis
https://rarediseases.info.nih.gov/diseases/9366/malignant-tumor-of-penis/diagnosis
https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma
https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9371/pituitary-carcinoma
https://rarediseases.info.nih.gov/diseases/9371/pituitary-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia
https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9376/upper-tract-urothelial-carcinoma
https://rarediseases.info.nih.gov/diseases/9376/upper-tract-urothelial-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/938/tricho-retino-dento-digital-syndrome
https://rarediseases.info.nih.gov/diseases/938/tricho-retino-dento-digital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer
https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer/diagnosis
https://rarediseases.info.nih.gov/diseases/9397/brenner-tumor-of-ovary
https://rarediseases.info.nih.gov/diseases/9397/brenner-tumor-of-ovary/diagnosis
https://rarediseases.info.nih.gov/diseases/9398/sarcoma-botryoides
https://rarediseases.info.nih.gov/diseases/9398/sarcoma-botryoides/diagnosis
https://rarediseases.info.nih.gov/diseases/94/mucolipidosis-type-iv
https://rarediseases.info.nih.gov/diseases/94/mucolipidosis-type-iv/diagnosis
https://rarediseases.info.nih.gov/diseases/9400/tako-tsubo-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/9400/tako-tsubo-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9404/phyllodes-tumor-of-the-prostate
https://rarediseases.info.nih.gov/diseases/9404/phyllodes-tumor-of-the-prostate/diagnosis
https://rarediseases.info.nih.gov/diseases/9412/x-linked-cerebral-adrenoleukodystrophy
https://rarediseases.info.nih.gov/diseases/9412/x-linked-cerebral-adrenoleukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica
https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica/diagnosis
https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-cataract-syndrome
https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-cataract-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/942/diphyllobothriasis
https://rarediseases.info.nih.gov/diseases/942/diphyllobothriasis/diagnosis
https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome
https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9428/thyroid-carcinoma-hurthle-cell
https://rarediseases.info.nih.gov/diseases/9428/thyroid-carcinoma-hurthle-cell/diagnosis
https://rarediseases.info.nih.gov/diseases/943/botulism
https://rarediseases.info.nih.gov/diseases/943/botulism/diagnosis
https://rarediseases.info.nih.gov/diseases/9430/congenital-thrombotic-thrombocytopenic-purpura
https://rarediseases.info.nih.gov/diseases/9430/congenital-thrombotic-thrombocytopenic-purpura/diagnosis
https://rarediseases.info.nih.gov/diseases/9432/hemolytic-uremic-syndrome-atypical-childhood
https://rarediseases.info.nih.gov/diseases/9432/hemolytic-uremic-syndrome-atypical-childhood/diagnosis
https://rarediseases.info.nih.gov/diseases/9433/organic-aciduria
https://rarediseases.info.nih.gov/diseases/9433/organic-aciduria/diagnosis
https://rarediseases.info.nih.gov/diseases/944/ataxia-hypogonadism-choroidal-dystrophy-syndrome
https://rarediseases.info.nih.gov/diseases/944/ataxia-hypogonadism-choroidal-dystrophy-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9441/temple-baraitser-syndrome
https://rarediseases.info.nih.gov/diseases/9441/temple-baraitser-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9442/glycogen-storage-disease-due-to-glycogen-debranching-enzyme-deficiency
https://rarediseases.info.nih.gov/diseases/9442/glycogen-storage-disease-due-to-glycogen-debranching-enzyme-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9443/severe-achondroplasia-developmental-delay-acanthosis-nigricans-syndrome
https://rarediseases.info.nih.gov/diseases/9443/severe-achondroplasia-developmental-delay-acanthosis-nigricans-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever
https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/9447/infantile-neuronal-ceroid-lipofuscinosis
https://rarediseases.info.nih.gov/diseases/9447/infantile-neuronal-ceroid-lipofuscinosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9448/camptodactyly-of-fingers
https://rarediseases.info.nih.gov/diseases/9448/camptodactyly-of-fingers/diagnosis
https://rarediseases.info.nih.gov/diseases/9449/waterhouse-friderichsen-syndrome
https://rarediseases.info.nih.gov/diseases/9449/waterhouse-friderichsen-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9450/familial-juvenile-hypertrophy-of-the-breast
https://rarediseases.info.nih.gov/diseases/9450/familial-juvenile-hypertrophy-of-the-breast/diagnosis
https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma
https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9453/andersen-tawil-syndrome
https://rarediseases.info.nih.gov/diseases/9453/andersen-tawil-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-defect
https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-defect/diagnosis
https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia
https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9457/isolated-polycystic-liver-disease
https://rarediseases.info.nih.gov/diseases/9457/isolated-polycystic-liver-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9458/loeys-dietz-syndrome-1
https://rarediseases.info.nih.gov/diseases/9458/loeys-dietz-syndrome-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia
https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma
https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma/diagnosis
https://rarediseases.info.nih.gov/diseases/9474/melorheostosis
https://rarediseases.info.nih.gov/diseases/9474/melorheostosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9481/autosomal-dominant-polycystic-kidney-disease-type-1-with-tuberous-sclerosis
https://rarediseases.info.nih.gov/diseases/9481/autosomal-dominant-polycystic-kidney-disease-type-1-with-tuberous-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9484/superficial-siderosis
https://rarediseases.info.nih.gov/diseases/9484/superficial-siderosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9485/glaucoma-1-open-angle-a
https://rarediseases.info.nih.gov/diseases/9485/glaucoma-1-open-angle-a/diagnosis
https://rarediseases.info.nih.gov/diseases/9486/isolated-congenital-anosmia
https://rarediseases.info.nih.gov/diseases/9486/isolated-congenital-anosmia/diagnosis
https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome
https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9489/isolated-congenital-breast-hypoplasiaaplasia
https://rarediseases.info.nih.gov/diseases/9489/isolated-congenital-breast-hypoplasiaaplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9492/cataract-35
https://rarediseases.info.nih.gov/diseases/9492/cataract-35/diagnosis
https://rarediseases.info.nih.gov/diseases/9493/gne-myopathy
https://rarediseases.info.nih.gov/diseases/9493/gne-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9494/hereditary-inclusion-body-myopathy-joint-contractures-ophthalmoplegia-syndrome
https://rarediseases.info.nih.gov/diseases/9494/hereditary-inclusion-body-myopathy-joint-contractures-ophthalmoplegia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-hypomaturation-type-iia1
https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-hypomaturation-type-iia1/diagnosis
https://rarediseases.info.nih.gov/diseases/9496/hereditary-renal-hypouricemia
https://rarediseases.info.nih.gov/diseases/9496/hereditary-renal-hypouricemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia
https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia/diagnosis
https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism
https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism/diagnosis
https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm
https://rarediseases.info.nih.gov/diseases/9501/hereditary-geniospasm/diagnosis
https://rarediseases.info.nih.gov/diseases/9504/porokeratosis-4-disseminated-superficial-actinic-type
https://rarediseases.info.nih.gov/diseases/9504/porokeratosis-4-disseminated-superficial-actinic-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9505/porokeratosis-3-multiple-types
https://rarediseases.info.nih.gov/diseases/9505/porokeratosis-3-multiple-types/diagnosis
https://rarediseases.info.nih.gov/diseases/9506/craniosynostosis-anal-anomalies-porokeratosis-syndrome
https://rarediseases.info.nih.gov/diseases/9506/craniosynostosis-anal-anomalies-porokeratosis-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9508/cerulean-cataract
https://rarediseases.info.nih.gov/diseases/9508/cerulean-cataract/diagnosis
https://rarediseases.info.nih.gov/diseases/9509/renpenning-syndrome
https://rarediseases.info.nih.gov/diseases/9509/renpenning-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9511/histiocytoid-cardiomyopathy
https://rarediseases.info.nih.gov/diseases/9511/histiocytoid-cardiomyopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9513/linear-scleroderma
https://rarediseases.info.nih.gov/diseases/9513/linear-scleroderma/diagnosis
https://rarediseases.info.nih.gov/diseases/9514/phyllodes-tumor-of-the-breast
https://rarediseases.info.nih.gov/diseases/9514/phyllodes-tumor-of-the-breast/diagnosis
https://rarediseases.info.nih.gov/diseases/9515/linear-porokeratosis
https://rarediseases.info.nih.gov/diseases/9515/linear-porokeratosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease
https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9517/bilateral-multicystic-dysplastic-kidney
https://rarediseases.info.nih.gov/diseases/9517/bilateral-multicystic-dysplastic-kidney/diagnosis
https://rarediseases.info.nih.gov/diseases/9519/autoimmune-myocarditis
https://rarediseases.info.nih.gov/diseases/9519/autoimmune-myocarditis/diagnosis
https://rarediseases.info.nih.gov/diseases/9520/buruli-ulcer
https://rarediseases.info.nih.gov/diseases/9520/buruli-ulcer/diagnosis
https://rarediseases.info.nih.gov/diseases/9522/chancroid
https://rarediseases.info.nih.gov/diseases/9522/chancroid/diagnosis
https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency
https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9525/coccidioidomycosis
https://rarediseases.info.nih.gov/diseases/9525/coccidioidomycosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency
https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency
https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9528/cyclosporosis
https://rarediseases.info.nih.gov/diseases/9528/cyclosporosis/diagnosis
https://rarediseases.info.nih.gov/diseases/953/congenital-bowing-of-long-bones
https://rarediseases.info.nih.gov/diseases/953/congenital-bowing-of-long-bones/diagnosis
https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis
https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis/diagnosis
https://rarediseases.info.nih.gov/diseases/9534/chronic-epstein-barr-virus-infection-syndrome
https://rarediseases.info.nih.gov/diseases/9534/chronic-epstein-barr-virus-infection-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9535/familial-cold-urticaria
https://rarediseases.info.nih.gov/diseases/9535/familial-cold-urticaria/diagnosis
https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome
https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9546/melioidosis
https://rarediseases.info.nih.gov/diseases/9546/melioidosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection
https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/9548/mhc-class-1-deficiency
https://rarediseases.info.nih.gov/diseases/9548/mhc-class-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/955/branchioskeletogenital-syndrome
https://rarediseases.info.nih.gov/diseases/955/branchioskeletogenital-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9550/variant-creutzfeldt-jakob-disease
https://rarediseases.info.nih.gov/diseases/9550/variant-creutzfeldt-jakob-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease
https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9554/primary-amebic-meningoencephalitis
https://rarediseases.info.nih.gov/diseases/9554/primary-amebic-meningoencephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever
https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever/diagnosis
https://rarediseases.info.nih.gov/diseases/9558/autosomal-dominant-severe-congenital-neutropenia
https://rarediseases.info.nih.gov/diseases/9558/autosomal-dominant-severe-congenital-neutropenia/diagnosis
https://rarediseases.info.nih.gov/diseases/9560/bacterial-toxic-shock-syndrome
https://rarediseases.info.nih.gov/diseases/9560/bacterial-toxic-shock-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9564/typhoid
https://rarediseases.info.nih.gov/diseases/9564/typhoid/diagnosis
https://rarediseases.info.nih.gov/diseases/9568/igg4-related-retroperitoneal-fibrosis
https://rarediseases.info.nih.gov/diseases/9568/igg4-related-retroperitoneal-fibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans
https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans/diagnosis
https://rarediseases.info.nih.gov/diseases/957/specc1l-related-hypertelorism-syndrome
https://rarediseases.info.nih.gov/diseases/957/specc1l-related-hypertelorism-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9571/hereditary-clear-cell-renal-cell-carcinoma
https://rarediseases.info.nih.gov/diseases/9571/hereditary-clear-cell-renal-cell-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma
https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma
https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9574/clear-cell-renal-carcinoma
https://rarediseases.info.nih.gov/diseases/9574/clear-cell-renal-carcinoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy
https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy/diagnosis
https://rarediseases.info.nih.gov/diseases/958/aym-gripp-syndrome
https://rarediseases.info.nih.gov/diseases/958/aym-gripp-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis
https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis/diagnosis
https://rarediseases.info.nih.gov/diseases/9581/autosomal-recessive-spastic-paraplegia-type-15
https://rarediseases.info.nih.gov/diseases/9581/autosomal-recessive-spastic-paraplegia-type-15/diagnosis
https://rarediseases.info.nih.gov/diseases/9582/autosomal-recessive-spastic-paraplegia-type-25
https://rarediseases.info.nih.gov/diseases/9582/autosomal-recessive-spastic-paraplegia-type-25/diagnosis
https://rarediseases.info.nih.gov/diseases/9583/autosomal-dominant-spastic-paraplegia-type-9a
https://rarediseases.info.nih.gov/diseases/9583/autosomal-dominant-spastic-paraplegia-type-9a/diagnosis
https://rarediseases.info.nih.gov/diseases/9585/x-linked-spastic-paraplegia-type-16
https://rarediseases.info.nih.gov/diseases/9585/x-linked-spastic-paraplegia-type-16/diagnosis
https://rarediseases.info.nih.gov/diseases/9586/autosomal-dominant-spastic-paraplegia-type-12
https://rarediseases.info.nih.gov/diseases/9586/autosomal-dominant-spastic-paraplegia-type-12/diagnosis
https://rarediseases.info.nih.gov/diseases/9587/autosomal-recessive-spastic-paraplegia-type-26
https://rarediseases.info.nih.gov/diseases/9587/autosomal-recessive-spastic-paraplegia-type-26/diagnosis
https://rarediseases.info.nih.gov/diseases/9588/autosomal-dominant-spastic-paraplegia-type-19
https://rarediseases.info.nih.gov/diseases/9588/autosomal-dominant-spastic-paraplegia-type-19/diagnosis
https://rarediseases.info.nih.gov/diseases/9589/autosomal-recessive-spastic-paraplegia-type-14
https://rarediseases.info.nih.gov/diseases/9589/autosomal-recessive-spastic-paraplegia-type-14/diagnosis
https://rarediseases.info.nih.gov/diseases/9590/autosomal-dominant-spastic-paraplegia-type-10
https://rarediseases.info.nih.gov/diseases/9590/autosomal-dominant-spastic-paraplegia-type-10/diagnosis
https://rarediseases.info.nih.gov/diseases/9591/autosomal-dominant-spastic-paraplegia-type-8
https://rarediseases.info.nih.gov/diseases/9591/autosomal-dominant-spastic-paraplegia-type-8/diagnosis
https://rarediseases.info.nih.gov/diseases/9595/congenital-atransferrinemia
https://rarediseases.info.nih.gov/diseases/9595/congenital-atransferrinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9598/basal-ganglia-calcification-idiopathic-childhood-onset
https://rarediseases.info.nih.gov/diseases/9598/basal-ganglia-calcification-idiopathic-childhood-onset/diagnosis
https://rarediseases.info.nih.gov/diseases/960/brachydactylous-dwarfism-mseleni-type
https://rarediseases.info.nih.gov/diseases/960/brachydactylous-dwarfism-mseleni-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9602/familial-paroxysmal-ataxia
https://rarediseases.info.nih.gov/diseases/9602/familial-paroxysmal-ataxia/diagnosis
https://rarediseases.info.nih.gov/diseases/9603/nystagmus-4-congenital-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/9603/nystagmus-4-congenital-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/9606/chorea-remitting-with-nystagmus-and-cataracts
https://rarediseases.info.nih.gov/diseases/9606/chorea-remitting-with-nystagmus-and-cataracts/diagnosis
https://rarediseases.info.nih.gov/diseases/9610/microphthalmia-with-cataract-1
https://rarediseases.info.nih.gov/diseases/9610/microphthalmia-with-cataract-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-type-13
https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-type-13/diagnosis
https://rarediseases.info.nih.gov/diseases/9615/giant-cell-arteritis
https://rarediseases.info.nih.gov/diseases/9615/giant-cell-arteritis/diagnosis
https://rarediseases.info.nih.gov/diseases/9616/autosomal-dominant-spastic-paraplegia-type-13
https://rarediseases.info.nih.gov/diseases/9616/autosomal-dominant-spastic-paraplegia-type-13/diagnosis
https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma
https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor
https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia
https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9621/polyembryoma
https://rarediseases.info.nih.gov/diseases/9621/polyembryoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9622/polymorphic-reticulosis
https://rarediseases.info.nih.gov/diseases/9622/polymorphic-reticulosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9624/bednar-tumor
https://rarediseases.info.nih.gov/diseases/9624/bednar-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/9628/rapid-onset-dystonia-parkinsonism
https://rarediseases.info.nih.gov/diseases/9628/rapid-onset-dystonia-parkinsonism/diagnosis
https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3
https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3/diagnosis
https://rarediseases.info.nih.gov/diseases/9630/primary-dystonia-dyt6-type
https://rarediseases.info.nih.gov/diseases/9630/primary-dystonia-dyt6-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9632/odontoleukodystrophy
https://rarediseases.info.nih.gov/diseases/9632/odontoleukodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9633/fundus-dystrophy-pseudoinflammatory-recessive-form
https://rarediseases.info.nih.gov/diseases/9633/fundus-dystrophy-pseudoinflammatory-recessive-form/diagnosis
https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence
https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence/diagnosis
https://rarediseases.info.nih.gov/diseases/9635/pruritic-urticarial-papules-and-plaques-of-pregnancy
https://rarediseases.info.nih.gov/diseases/9635/pruritic-urticarial-papules-and-plaques-of-pregnancy/diagnosis
https://rarediseases.info.nih.gov/diseases/9640/autosomal-agammaglobulinemia
https://rarediseases.info.nih.gov/diseases/9640/autosomal-agammaglobulinemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9642/parkinson-disease-2-autosomal-recessive-juvenile
https://rarediseases.info.nih.gov/diseases/9642/parkinson-disease-2-autosomal-recessive-juvenile/diagnosis
https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum
https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum/diagnosis
https://rarediseases.info.nih.gov/diseases/9645/human-t-cell-leukemia-virus-type-1
https://rarediseases.info.nih.gov/diseases/9645/human-t-cell-leukemia-virus-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type
https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9647/gelatinous-drop-like-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/9647/gelatinous-drop-like-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2
https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2/diagnosis
https://rarediseases.info.nih.gov/diseases/9650/achromatopsia-3
https://rarediseases.info.nih.gov/diseases/9650/achromatopsia-3/diagnosis
https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia
https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia/diagnosis
https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme
https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme/diagnosis
https://rarediseases.info.nih.gov/diseases/9657/anauxetic-dysplasia
https://rarediseases.info.nih.gov/diseases/9657/anauxetic-dysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9659/bartter-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/9659/bartter-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia-syndrome
https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9663/buschke-lowenstein-tumor
https://rarediseases.info.nih.gov/diseases/9663/buschke-lowenstein-tumor/diagnosis
https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma
https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9667/hhv-6-encephalitis
https://rarediseases.info.nih.gov/diseases/9667/hhv-6-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/967/brachydactyly-arterial-hypertension-syndrome
https://rarediseases.info.nih.gov/diseases/967/brachydactyly-arterial-hypertension-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9670/congenital-factor-xi-deficiency
https://rarediseases.info.nih.gov/diseases/9670/congenital-factor-xi-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis
https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome
https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9675/isotretinoin-like-syndrome
https://rarediseases.info.nih.gov/diseases/9675/isotretinoin-like-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy
https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9677/granular-corneal-dystrophy-type-i
https://rarediseases.info.nih.gov/diseases/9677/granular-corneal-dystrophy-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/9678/lattice-corneal-dystrophy-type-i
https://rarediseases.info.nih.gov/diseases/9678/lattice-corneal-dystrophy-type-i/diagnosis
https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-syndrome
https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9681/rhyns-syndrome
https://rarediseases.info.nih.gov/diseases/9681/rhyns-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease
https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome
https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9687/schistosomiasis
https://rarediseases.info.nih.gov/diseases/9687/schistosomiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy
https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9690/kienbock-disease
https://rarediseases.info.nih.gov/diseases/9690/kienbock-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9692/congenital-patella-dislocation
https://rarediseases.info.nih.gov/diseases/9692/congenital-patella-dislocation/diagnosis
https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia
https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia/diagnosis
https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea
https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea/diagnosis
https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy
https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9698/recombinant-8-syndrome
https://rarediseases.info.nih.gov/diseases/9698/recombinant-8-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9700/lcad-deficiency
https://rarediseases.info.nih.gov/diseases/9700/lcad-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts
https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts/diagnosis
https://rarediseases.info.nih.gov/diseases/9704/x-linked-intellectual-disability-siderius-type
https://rarediseases.info.nih.gov/diseases/9704/x-linked-intellectual-disability-siderius-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9705/ectodermal-dysplasia-skin-fragility-syndrome
https://rarediseases.info.nih.gov/diseases/9705/ectodermal-dysplasia-skin-fragility-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration
https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration/diagnosis
https://rarediseases.info.nih.gov/diseases/971/brachydactyly-nystagmus-cerebellar-ataxia-syndrome
https://rarediseases.info.nih.gov/diseases/971/brachydactyly-nystagmus-cerebellar-ataxia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis
https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen
https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen/diagnosis
https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3
https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection
https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/9719/orbital-lymphoma
https://rarediseases.info.nih.gov/diseases/9719/orbital-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/972/brachydactyly-preaxial-hallux-varus-syndrome
https://rarediseases.info.nih.gov/diseases/972/brachydactyly-preaxial-hallux-varus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9721/herpes-zoster-ophthalmicus
https://rarediseases.info.nih.gov/diseases/9721/herpes-zoster-ophthalmicus/diagnosis
https://rarediseases.info.nih.gov/diseases/9723/ectodermal-dysplasia-sensorineural-deafness-syndrome
https://rarediseases.info.nih.gov/diseases/9723/ectodermal-dysplasia-sensorineural-deafness-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis
https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9726/deafness-autosomal-dominant-17
https://rarediseases.info.nih.gov/diseases/9726/deafness-autosomal-dominant-17/diagnosis
https://rarediseases.info.nih.gov/diseases/9728/proximal-myotonic-myopathy
https://rarediseases.info.nih.gov/diseases/9728/proximal-myotonic-myopathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9729/autosomal-dominant-spastic-paraplegia-type-29
https://rarediseases.info.nih.gov/diseases/9729/autosomal-dominant-spastic-paraplegia-type-29/diagnosis
https://rarediseases.info.nih.gov/diseases/9730/glycogen-storage-disease-due-to-lamp-2-deficiency
https://rarediseases.info.nih.gov/diseases/9730/glycogen-storage-disease-due-to-lamp-2-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9732/epithelial-basement-membrane-dystrophy
https://rarediseases.info.nih.gov/diseases/9732/epithelial-basement-membrane-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9733/ichthyosis-congenital-autosomal-recessive-4a
https://rarediseases.info.nih.gov/diseases/9733/ichthyosis-congenital-autosomal-recessive-4a/diagnosis
https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-congenital-autosomal-recessive-5
https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-congenital-autosomal-recessive-5/diagnosis
https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant
https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant/diagnosis
https://rarediseases.info.nih.gov/diseases/9736/congenital-non-bullous-ichthyosiform-erythroderma
https://rarediseases.info.nih.gov/diseases/9736/congenital-non-bullous-ichthyosiform-erythroderma/diagnosis
https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation
https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation/diagnosis
https://rarediseases.info.nih.gov/diseases/9740/familial-atrial-fibrillation
https://rarediseases.info.nih.gov/diseases/9740/familial-atrial-fibrillation/diagnosis
https://rarediseases.info.nih.gov/diseases/9741/neurological-conditions-associated-with-aminoacylase-1-deficiency
https://rarediseases.info.nih.gov/diseases/9741/neurological-conditions-associated-with-aminoacylase-1-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9742/ankylostomiasis
https://rarediseases.info.nih.gov/diseases/9742/ankylostomiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata
https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata/diagnosis
https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis
https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis/diagnosis
https://rarediseases.info.nih.gov/diseases/9748/systemic-sclerosis
https://rarediseases.info.nih.gov/diseases/9748/systemic-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9749/limited-systemic-sclerosis
https://rarediseases.info.nih.gov/diseases/9749/limited-systemic-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis
https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis/diagnosis
https://rarediseases.info.nih.gov/diseases/9758/familial-hypocalciuric-hypercalcemia-type-2
https://rarediseases.info.nih.gov/diseases/9758/familial-hypocalciuric-hypercalcemia-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/9759/leukonychia-totalis
https://rarediseases.info.nih.gov/diseases/9759/leukonychia-totalis/diagnosis
https://rarediseases.info.nih.gov/diseases/9760/hereditary-koilonychia
https://rarediseases.info.nih.gov/diseases/9760/hereditary-koilonychia/diagnosis
https://rarediseases.info.nih.gov/diseases/9761/isolated-congenital-onychodysplasia
https://rarediseases.info.nih.gov/diseases/9761/isolated-congenital-onychodysplasia/diagnosis
https://rarediseases.info.nih.gov/diseases/9762/potocki-shaffer-syndrome
https://rarediseases.info.nih.gov/diseases/9762/potocki-shaffer-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9765/myokymia-with-neonatal-epilepsy
https://rarediseases.info.nih.gov/diseases/9765/myokymia-with-neonatal-epilepsy/diagnosis
https://rarediseases.info.nih.gov/diseases/9766/morvan-syndrome
https://rarediseases.info.nih.gov/diseases/9766/morvan-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9767/necrotizing-enterocolitis
https://rarediseases.info.nih.gov/diseases/9767/necrotizing-enterocolitis/diagnosis
https://rarediseases.info.nih.gov/diseases/9768/pityriasis-lichenoides-et-varioliformis-acuta
https://rarediseases.info.nih.gov/diseases/9768/pityriasis-lichenoides-et-varioliformis-acuta/diagnosis
https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma
https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9775/dowling-degos-disease
https://rarediseases.info.nih.gov/diseases/9775/dowling-degos-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome
https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection
https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection/diagnosis
https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1
https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1/diagnosis
https://rarediseases.info.nih.gov/diseases/9781/proximal-xq28-duplication-syndrome
https://rarediseases.info.nih.gov/diseases/9781/proximal-xq28-duplication-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9783/human-t-cell-leukemia-virus-type-2
https://rarediseases.info.nih.gov/diseases/9783/human-t-cell-leukemia-virus-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome
https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic
https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic/diagnosis
https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2
https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2/diagnosis
https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy
https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy/diagnosis
https://rarediseases.info.nih.gov/diseases/9792/epiphyseal-dysplasia-multiple-3
https://rarediseases.info.nih.gov/diseases/9792/epiphyseal-dysplasia-multiple-3/diagnosis
https://rarediseases.info.nih.gov/diseases/9793/multiple-epiphyseal-dysplasia-type-4
https://rarediseases.info.nih.gov/diseases/9793/multiple-epiphyseal-dysplasia-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/9794/multiple-epiphyseal-dysplasia-type-5
https://rarediseases.info.nih.gov/diseases/9794/multiple-epiphyseal-dysplasia-type-5/diagnosis
https://rarediseases.info.nih.gov/diseases/9795/naxos-disease
https://rarediseases.info.nih.gov/diseases/9795/naxos-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9796/autoimmune-lymphoproliferative-syndrome-with-recurrent-viral-infections
https://rarediseases.info.nih.gov/diseases/9796/autoimmune-lymphoproliferative-syndrome-with-recurrent-viral-infections/diagnosis
https://rarediseases.info.nih.gov/diseases/9797/dianzani-autoimmune-lymphoproliferative-disease
https://rarediseases.info.nih.gov/diseases/9797/dianzani-autoimmune-lymphoproliferative-disease/diagnosis
https://rarediseases.info.nih.gov/diseases/9798/auriculocondylar-syndrome
https://rarediseases.info.nih.gov/diseases/9798/auriculocondylar-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma
https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9802/progressive-familial-intrahepatic-cholestasis-type-1
https://rarediseases.info.nih.gov/diseases/9802/progressive-familial-intrahepatic-cholestasis-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9803/progressive-familial-intrahepatic-cholestasis-type-4
https://rarediseases.info.nih.gov/diseases/9803/progressive-familial-intrahepatic-cholestasis-type-4/diagnosis
https://rarediseases.info.nih.gov/diseases/9804/intrahepatic-cholestasis-of-pregnancy
https://rarediseases.info.nih.gov/diseases/9804/intrahepatic-cholestasis-of-pregnancy/diagnosis
https://rarediseases.info.nih.gov/diseases/9806/vibratory-urticaria
https://rarediseases.info.nih.gov/diseases/9806/vibratory-urticaria/diagnosis
https://rarediseases.info.nih.gov/diseases/9808/pilocytic-astrocytoma
https://rarediseases.info.nih.gov/diseases/9808/pilocytic-astrocytoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma
https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma/diagnosis
https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type
https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome
https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9812/t-cell-large-granular-lymphocyte-leukemia
https://rarediseases.info.nih.gov/diseases/9812/t-cell-large-granular-lymphocyte-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9813/congenital-bile-acid-synthesis-defect-type-1
https://rarediseases.info.nih.gov/diseases/9813/congenital-bile-acid-synthesis-defect-type-1/diagnosis
https://rarediseases.info.nih.gov/diseases/9814/tukel-syndrome
https://rarediseases.info.nih.gov/diseases/9814/tukel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis
https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis/diagnosis
https://rarediseases.info.nih.gov/diseases/9817/autosomal-dominant-dopa-responsive-dystonia
https://rarediseases.info.nih.gov/diseases/9817/autosomal-dominant-dopa-responsive-dystonia/diagnosis
https://rarediseases.info.nih.gov/diseases/9818/developmental-malformations-deafness-dystonia-syndrome
https://rarediseases.info.nih.gov/diseases/9818/developmental-malformations-deafness-dystonia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5
https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5/diagnosis
https://rarediseases.info.nih.gov/diseases/9820/catastrophic-antiphospholipid-syndrome
https://rarediseases.info.nih.gov/diseases/9820/catastrophic-antiphospholipid-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9821/pattern-dystrophy
https://rarediseases.info.nih.gov/diseases/9821/pattern-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9823/acardia
https://rarediseases.info.nih.gov/diseases/9823/acardia/diagnosis
https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis
https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis/diagnosis
https://rarediseases.info.nih.gov/diseases/9826/pmm2-cdg
https://rarediseases.info.nih.gov/diseases/9826/pmm2-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9827/alg3-cdg
https://rarediseases.info.nih.gov/diseases/9827/alg3-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9828/mgat2-cdg
https://rarediseases.info.nih.gov/diseases/9828/mgat2-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9829/alg6-cdg
https://rarediseases.info.nih.gov/diseases/9829/alg6-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6
https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6/diagnosis
https://rarediseases.info.nih.gov/diseases/9830/mpi-cdg
https://rarediseases.info.nih.gov/diseases/9830/mpi-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9831/dpm1-cdg
https://rarediseases.info.nih.gov/diseases/9831/dpm1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9832/mpdu1-cdg
https://rarediseases.info.nih.gov/diseases/9832/mpdu1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9833/alg12-cdg
https://rarediseases.info.nih.gov/diseases/9833/alg12-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9834/alg8-cdg
https://rarediseases.info.nih.gov/diseases/9834/alg8-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome
https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9836/alg2-cdg
https://rarediseases.info.nih.gov/diseases/9836/alg2-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9837/dpagt1-cdg
https://rarediseases.info.nih.gov/diseases/9837/dpagt1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9838/alg1-cdg
https://rarediseases.info.nih.gov/diseases/9838/alg1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9839/alg9-cdg
https://rarediseases.info.nih.gov/diseases/9839/alg9-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7
https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7/diagnosis
https://rarediseases.info.nih.gov/diseases/9841/b4galt1-cdg
https://rarediseases.info.nih.gov/diseases/9841/b4galt1-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9842/cog7-cdg
https://rarediseases.info.nih.gov/diseases/9842/cog7-cdg/diagnosis
https://rarediseases.info.nih.gov/diseases/9843/primary-familial-polycythemia
https://rarediseases.info.nih.gov/diseases/9843/primary-familial-polycythemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-ii
https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-ii/diagnosis
https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type
https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9847/heart-hand-syndrome-type-2
https://rarediseases.info.nih.gov/diseases/9847/heart-hand-syndrome-type-2/diagnosis
https://rarediseases.info.nih.gov/diseases/9848/congenital-brain-dysgenesis-due-to-glutamine-synthetase-deficiency
https://rarediseases.info.nih.gov/diseases/9848/congenital-brain-dysgenesis-due-to-glutamine-synthetase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9849/goldberg-shprintzen-megacolon-syndrome
https://rarediseases.info.nih.gov/diseases/9849/goldberg-shprintzen-megacolon-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/985/brachydactyly-type-b
https://rarediseases.info.nih.gov/diseases/985/brachydactyly-type-b/diagnosis
https://rarediseases.info.nih.gov/diseases/9850/omphalocele-syndrome-shprintzen-goldberg-type
https://rarediseases.info.nih.gov/diseases/9850/omphalocele-syndrome-shprintzen-goldberg-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9852/nondystrophic-myotonia
https://rarediseases.info.nih.gov/diseases/9852/nondystrophic-myotonia/diagnosis
https://rarediseases.info.nih.gov/diseases/986/brachydactyly-type-c
https://rarediseases.info.nih.gov/diseases/986/brachydactyly-type-c/diagnosis
https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia
https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia/diagnosis
https://rarediseases.info.nih.gov/diseases/9863/synostoses-tarsal-carpal-and-digital
https://rarediseases.info.nih.gov/diseases/9863/synostoses-tarsal-carpal-and-digital/diagnosis
https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations
https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations/diagnosis
https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-type-14
https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-type-14/diagnosis
https://rarediseases.info.nih.gov/diseases/987/brachydactyly-type-e
https://rarediseases.info.nih.gov/diseases/987/brachydactyly-type-e/diagnosis
https://rarediseases.info.nih.gov/diseases/9870/hyperinsulinism-due-to-short-chain-3-hydroxylacyl-coa-dehydrogenase-deficiency
https://rarediseases.info.nih.gov/diseases/9870/hyperinsulinism-due-to-short-chain-3-hydroxylacyl-coa-dehydrogenase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive
https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive/diagnosis
https://rarediseases.info.nih.gov/diseases/9873/lateral-meningocele-syndrome
https://rarediseases.info.nih.gov/diseases/9873/lateral-meningocele-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4
https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4/diagnosis
https://rarediseases.info.nih.gov/diseases/9879/fibular-aplasia-complex-brachydactyly-syndrome
https://rarediseases.info.nih.gov/diseases/9879/fibular-aplasia-complex-brachydactyly-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9882/hyperandrogenism-due-to-cortisone-reductase-deficiency
https://rarediseases.info.nih.gov/diseases/9882/hyperandrogenism-due-to-cortisone-reductase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9884/juvenile-myelomonocytic-leukemia
https://rarediseases.info.nih.gov/diseases/9884/juvenile-myelomonocytic-leukemia/diagnosis
https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome
https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9887/benign-concentric-annular-macular-dystrophy
https://rarediseases.info.nih.gov/diseases/9887/benign-concentric-annular-macular-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency
https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis
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https://rarediseases.info.nih.gov/diseases/9898/posterior-column-ataxia-retinitis-pigmentosa-syndrome
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https://rarediseases.info.nih.gov/diseases/9899/hodgkin-disease-x-linked-pseudoautosomal
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https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome
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https://rarediseases.info.nih.gov/diseases/9914/glomerulopathy-with-fibronectin-deposits-2
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https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2
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https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia
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https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalomyopathy
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https://rarediseases.info.nih.gov/diseases/9921/nasu-hakola-disease
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https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2
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https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3
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https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome
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https://rarediseases.info.nih.gov/diseases/9932/exercise-induced-hyperinsulinism/diagnosis
https://rarediseases.info.nih.gov/diseases/9933/deafness-autosomal-dominant-3a
https://rarediseases.info.nih.gov/diseases/9933/deafness-autosomal-dominant-3a/diagnosis
https://rarediseases.info.nih.gov/diseases/9934/deafness-autosomal-dominant-53
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https://rarediseases.info.nih.gov/diseases/9936/hypohidrotic-ectodermal-dysplasia-with-immunodeficiency
https://rarediseases.info.nih.gov/diseases/9936/hypohidrotic-ectodermal-dysplasia-with-immunodeficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9937/myopia-6
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https://rarediseases.info.nih.gov/diseases/994/spondyloepiphyseal-dysplasia-maroteaux-type
https://rarediseases.info.nih.gov/diseases/994/spondyloepiphyseal-dysplasia-maroteaux-type/diagnosis
https://rarediseases.info.nih.gov/diseases/9940/cednik-syndrome
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https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-dystrophy
https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-dystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-type-ie
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https://rarediseases.info.nih.gov/diseases/9944/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-2/diagnosis
https://rarediseases.info.nih.gov/diseases/9947/x-linked-intellectual-disability-cerebellar-hypoplasia-syndrome
https://rarediseases.info.nih.gov/diseases/9947/x-linked-intellectual-disability-cerebellar-hypoplasia-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-type-23
https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-type-23/diagnosis
https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-type-28
https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-type-28/diagnosis
https://rarediseases.info.nih.gov/diseases/9952/congenital-primary-aphakia
https://rarediseases.info.nih.gov/diseases/9952/congenital-primary-aphakia/diagnosis
https://rarediseases.info.nih.gov/diseases/9953/oligodendroglioma
https://rarediseases.info.nih.gov/diseases/9953/oligodendroglioma/diagnosis
https://rarediseases.info.nih.gov/diseases/9959/west-nile-encephalitis
https://rarediseases.info.nih.gov/diseases/9959/west-nile-encephalitis/diagnosis
https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-type-27
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https://rarediseases.info.nih.gov/diseases/9964/glycogen-storage-disease-due-to-phosphoglycerate-mutase-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency
https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency/diagnosis
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https://rarediseases.info.nih.gov/diseases/9971/autosomal-recessive-spinocerebellar-ataxia-blindness-deafness-syndrome/diagnosis
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https://rarediseases.info.nih.gov/diseases/9978/spinocerebellar-ataxia-x-linked-type-2/diagnosis
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https://rarediseases.info.nih.gov/diseases/998/craniosynostosis-dandy-walker-malformation-hydrocephalus-syndrome/diagnosis
https://rarediseases.info.nih.gov/diseases/9980/x-linked-spinocerebellar-ataxia-type-4
https://rarediseases.info.nih.gov/diseases/9980/x-linked-spinocerebellar-ataxia-type-4/diagnosis
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https://rarediseases.info.nih.gov/diseases/9981/x-linked-spinocerebellar-ataxia-type-3/diagnosis
https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-due-to-dclre1c-deficiency
https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-due-to-dclre1c-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy
https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy/diagnosis
https://rarediseases.info.nih.gov/diseases/9990/lipoatrophy-with-diabetes-hepatic-steatosis-cardiomyopathy-and-leukomelanodermic-papules
https://rarediseases.info.nih.gov/diseases/9990/lipoatrophy-with-diabetes-hepatic-steatosis-cardiomyopathy-and-leukomelanodermic-papules/diagnosis
https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency
https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency/diagnosis
https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome
https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome/diagnosis
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https://rarediseases.info.nih.gov/diseases/9998/sensory-ataxic-neuropathy-dysarthria-ophthalmoparesis-syndrome/diagnosis
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