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





Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.



J

• 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 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