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Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
- Jabs syndrome - See Blau syndrome
- Jackhammer esophagus
- Jackson Barr syndrome - See Deafness conductive ptosis skeletal anomalies
- Jackson-Weiss syndrome
- Jacobs syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
- Jacobs syndrome - See 47, XYY syndrome
- Jacobsen syndrome
- Jadassohn nevus phakomatosis - See Linear nevus sebaceous syndrome
- Jadassohn-Tièche nevus - See Tièche-Jadassohn nevus
- Jadassohn-Tièche syndrome - See Tièche-Jadassohn nevus
- JAE - See Epilepsy juvenile absence
- Jaeken syndrome - See PMM2-CDG (CDG-Ia)
- Jaffe Campanacci syndrome - See Fibromatosis multiple non ossifying
- Jaffe-Campanacci syndrome - See Osteofibrous dysplasia
- Jaffer Beighton syndrome
- Jagell Holmgren Hofer syndrome - See Ichthyosis alopecia eclabion ectropion mental retardation
- Jail fever - See Typhus
- Jalili syndrome - See Cone-rod dystrophy amelogenesis imperfecta
- JALS - See Juvenile amyotrophic lateral sclerosis
- Jamaican vomiting sickness
- Jancar syndrome - See Intellectual disability-spasticity-ectrodactyly syndrome
- Jankovic Rivera syndrome
- Jansen type metaphyseal chondrodysplasia
- Jansky-Bielschowsky disease - See Neuronal ceroid lipofuscinosis 2
- Janz syndrome - See Juvenile myoclonic epilepsy
- Japanese encephalitis
- Japanese type spondylometaphyseal dysplasia - See Spondylometaphyseal dysplasia Algerian type
- Jarcho-Levin syndrome - See Spondylothoracic dysostosis
- Jaw-winking - See Marcus Gunn phenomenon
- JBS - See Johanson-Blizzard syndrome
- JBS - See Jacobsen syndrome
- JBTS1 - See Joubert syndrome
- JBTS2 - See Joubert syndrome 2
- JBTS3 - See Joubert syndrome with ocular anomalies
- JBTS4 - See Joubert syndrome with renal anomalies
- JDM - See Juvenile dermatomyositis
- JE - See Japanese encephalitis
- JEB - See Junctional epidermolysis bullosa
- JEB, generalized intermediate - See Junctional epidermolysis bullosa
- JEB-H - See Epidermolysis bullosa
- JEB-Herlitz type - See Epidermolysis bullosa
- JEB-I - See Epidermolysis bullosa
- JEB-lo - See Junctional epidermolysis bullosa
- JEB-nH - See Epidermolysis bullosa
- JEB-nH gen - See Junctional epidermolysis bullosa
- JEB-nH loc - See Junctional epidermolysis bullosa
- JEB-PA - See Epidermolysis bullosa
- Jejunal atresia - See Atresia of small intestine
- Jejunal atresia
- Jejunal atresia with renal adysplasia
- Jejunoileal atresia - See Atresia of small intestine
- Jejunoileal atresia - See Jejunal atresia
- JEN-nH - See Epidermolysis bullosa
- Jensen syndrome
- Jequier Kozlowski skeletal dysplasia - See Spondylometaphyseal dysplasia, Kozlowski type
- Jequier-Kozlowski syndrome - See Spondylometaphyseal dysplasia, Kozlowski type
- Jervell and Lange-Nielsen syndrome 2
- Jervell Lange-Nielsen syndrome
- Jessner disease - See Lymphocytic infiltrate of Jessner
- Jessner-Kanof syndrome - See Lymphocytic infiltrate of Jessner
- Jeune syndrome
- Jeune syndrome situs inversus
- Jeune's syndrome - See Jeune syndrome
- JGCA - See Juvenile temporal arteritis
- JHD - See Juvenile Huntington disease
- JHS - See Juberg-Hayward syndrome
- JIP - See Juvenile polyposis syndrome
- JLNS1 - See Jervell Lange-Nielsen syndrome
- JLNS2 - See Jervell and Lange-Nielsen syndrome 2
- JME - See Juvenile myoclonic epilepsy
- JMML - See Juvenile myelomonocytic leukemia
- JMP syndrome
- JMS - See Juberg Marsidi syndrome
- JNP - See Linear nevus sebaceous syndrome
- JOAG1 - See Primary open angle glaucoma juvenile onset 1
- Job syndrome autosomal dominant - See Autosomal dominant hyper IgE syndrome
- Johanson-Blizzard syndrome
- Johnson Hall Krous syndrome
- Johnson Munson syndrome
- Johnson neuroectodermal syndrome
- Johnson-Mcmillin syndrome - See Johnson neuroectodermal syndrome
- Johnston Aarons Schelley syndrome
- Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy - See JMP syndrome
- Joint contractures with other abnormalities - See Hydrocephalus-cleft palate-joint contractures syndrome
- Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns - See Johnston Aarons Schelley syndrome
- Joint instability syndrome - See Familial joint instability syndrome
- Joint laxity, Familial - See Familial joint instability syndrome
- Joint replacement infection - See Prosthetic joint infection
- Jones Hersh Yusk syndrome
- Jones syndrome
- Jonston's Alopecia - See Alopecia areata - not a rare disease
- Jorgenson Lenz syndrome
- JORRP (type) - See Recurrent respiratory papillomatosis
- JOSeFINE - See Juvenile-onset small-fiber polyneuropathy
- Joubert syndrome
- Joubert syndrome 1 - See Joubert syndrome
- Joubert syndrome 2
- Joubert syndrome 3 - See Joubert syndrome with ocular anomalies
- Joubert syndrome 4 - See Joubert syndrome with renal anomalies
- Joubert syndrome 5 - See Joubert syndrome with oculorenal anomalies
- Joubert syndrome with bilateral chorioretinal coloboma - See Joubert syndrome with oculorenal anomalies
- Joubert syndrome with congenital hepatic fibrosis - See COACH syndrome
- Joubert syndrome with hepatic defect - See COACH syndrome
- Joubert syndrome with ocular anomalies
- Joubert syndrome with oculorenal anomalies
- Joubert syndrome with oculorenal defect - See Joubert syndrome with oculorenal anomalies
- Joubert syndrome with orofaciodigital defect - See Orofaciodigital syndrome 6
- Joubert syndrome with renal anomalies
- Joubert syndrome with Senior-Loken syndrome - See Joubert syndrome with oculorenal anomalies
- Joubert-Boltshauser syndrome - See Joubert syndrome
- JP - See Autosomal recessive juvenile Parkinson disease
- JPD - See Juvenile Paget disease
- JPG - See Juvenile Paget disease
- JPLS - See Juvenile primary lateral sclerosis
- JPM - See Juvenile dermatomyositis
- JPMR - See Juvenile temporal arteritis
- JPS - See Juvenile polyposis syndrome
- JS type B - See Joubert syndrome with oculorenal anomalies
- JS-H - See COACH syndrome
- JS-OR - See Joubert syndrome with oculorenal anomalies
- Juberg Marsidi syndrome
- Juberg-Hayward syndrome
- Juberg-Hellman syndrome - See PCDH19-related female-limited epilepsy
- Juberg-Marsidi Intellectual disability syndrome - See Juberg Marsidi syndrome
- Juberg-Marsidi syndrome - See Juberg Marsidi syndrome
- Judge Misch Wright syndrome
- Jumping Frenchmen of Maine
- Junctional epidermolysis bullosa
- Junctional epidermolysis bullosa - pyloric atresia - See Epidermolysis bullosa
- Junctional epidermolysis bullosa generalisata gravis - See Epidermolysis bullosa
- Junctional epidermolysis bullosa generalisata mitis - See Junctional epidermolysis bullosa
- Junctional epidermolysis bullosa inversa - See Epidermolysis bullosa
- Junctional epidermolysis bullosa with pyloric atresia - See Epidermolysis bullosa
- Junctional epidermolysis bullosa, Disentis type - See Junctional epidermolysis bullosa
- Junctional epidermolysis bullosa, generalized intermediate - See Junctional epidermolysis bullosa
- Junctional epidermolysis bullosa, Herlitz type - See Epidermolysis bullosa
- Junctional epidermolysis bullosa, non-Herlitz type - See Epidermolysis bullosa
- Jung Wolff Back Stahl syndrome
- Juvenile absence epilepsy - See Epilepsy juvenile absence
- Juvenile amyotrophic lateral sclerosis
- Juvenile arthritis - See Juvenile idiopathic arthritis - not a rare disease
- Juvenile breast cancer (formerly) - See Secretory breast carcinoma
- Juvenile breast carcinoma (formerly) - See Secretory breast carcinoma
- Juvenile cataract, cerebellar atrophy, mental retardation, and myopathy - See Marinesco-Sjogren-like syndrome (MSLS)
- Juvenile Charcot disease - See Juvenile amyotrophic lateral sclerosis
- Juvenile chronic arthritis - See Juvenile idiopathic arthritis - not a rare disease
- Juvenile cranial arteritis - See Juvenile temporal arteritis
- Juvenile dermatomyositis
- Juvenile enthesitis-related arthritis - See Enthesitis-related juvenile idiopathic arthritis
- Juvenile giant cell arteritis - See Juvenile temporal arteritis
- Juvenile gigantomastia (subtype) - See Gigantomastia
- Juvenile glaucoma with unusual upper lip and dental roots - See Ackerman syndrome
- Juvenile hemochromatosis - See Hemochromatosis type 2
- Juvenile hereditary epithelial dystrophy - See Meesmann corneal dystrophy
- Juvenile hereditary hemochromatosis - See Hemochromatosis type 2
- Juvenile Huntington disease
- Juvenile hyaline fibromatosis (former subtype) - See Hyaline fibromatosis syndrome
- Juvenile idiopathic arthritis - not a rare disease
- Juvenile intestinal polyposis - See Juvenile polyposis syndrome
- Juvenile kyphosis - See Scheuermann disease
- Juvenile laryngeal papilloma - See Recurrent respiratory papillomatosis
- Juvenile laryngeal papillomatosis (subtype) - See Laryngeal papillomatosis
- Juvenile Lou Gehrig disease - See Juvenile amyotrophic lateral sclerosis
- Juvenile macular degeneration and hypotrichosis
- Juvenile macular dystrophy and congenital hypotrichosis - See Juvenile macular degeneration and hypotrichosis
- Juvenile muscular atrophy of distal upper extremity (JMADUE) - See Monomelic amyotrophy
- Juvenile muscular atrophy of distal upper limb - See Monomelic amyotrophy
- Juvenile myelomonocytic leukemia
- Juvenile myoclonic epilepsy
- Juvenile myositis - See Juvenile dermatomyositis
- Juvenile nephronophthisis with Leber amaurosis - See Senior Loken Syndrome
- Juvenile neuronal ceroid lipofuscinosis - See Neuronal ceroid lipofuscinosis 3
- Juvenile onset HD - See Juvenile Huntington disease
- Juvenile onset macular degeneration - See Stargardt disease
- Juvenile onset pernicious anemia - See Pernicious anemia - not a rare disease
- Juvenile ossifying fibroma
- Juvenile osteoporosis
- Juvenile Paget disease
- Juvenile Pagets disease - See Juvenile Paget disease
- Juvenile parkinsonism - See Autosomal recessive juvenile Parkinson disease
- Juvenile pilocytic astrocytoma - See Pilocytic astrocytoma
- Juvenile PM - See Juvenile polymyositis
- Juvenile polyarthritis rheumatoid factor negative - See Polyarticular onset juvenile idiopathic arthritis
- Juvenile polyarthritis rheumatoid factor positive - See Polyarticular onset juvenile idiopathic arthritis
- Juvenile polymyalgia rheumatica - See Juvenile temporal arteritis
- Juvenile polymyositis
- Juvenile polyposis syndrome
- Juvenile primary lateral sclerosis
- Juvenile psoriatic arthritis - See Psoriatic juvenile idiopathic arthritis
- Juvenile retinoschisis
- Juvenile rheumatoid arthritis - See Juvenile idiopathic arthritis - not a rare disease
- Juvenile spondylarthropathy - See Enthesitis-related juvenile idiopathic arthritis
- Juvenile spondyloarthropathy
- Juvenile sulfatidosis - See Multiple sulfatase deficiency
- Juvenile temporal arteritis
- Juvenile-onset diabetes - See Diabetes mellitus type 1 - not a rare disease
- Juvenile-onset dystonia
- Juvenile-onset recurrent respiratory papillomatosis (type) - See Recurrent respiratory papillomatosis
- Juvenile-onset small-fiber polyneuropathy
- Juvenile-onset vitelliform macular dystrophy - See Best vitelliform macular dystrophy
- Juxtafoveal retinal telangiectasia type 2 - See Macular telangiectasia type 2 - not a rare disease
- JWS - See Jackson-Weiss syndrome
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