Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [J]

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 47, XYY syndrome
• Jacobs syndrome - See Camptodactyly arthropathy coxa vara pericarditis 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
• JATD - See Jeune syndrome
• Jaw-winking - See Marcus Gunn phenomenon
• JBS - See Jacobsen syndrome
• JBS - See Johanson-Blizzard 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 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
• Jejunal atresia with renal adysplasia
• Jejunoileal atresia - See Jejunal atresia
• JEN-nH - See Epidermolysis bullosa
• 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 asphyxiating thoracic dystrophy - See Jeune syndrome
• 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 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
• Jugular lymphatic obstruction sequence - See Hygroma cervical
• 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 generalized intermediate - See 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 Pyramidal molars-abnormal upper lip 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