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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


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Diseases Beginning With J

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

* Jabs syndrome - See Blau syndrome
* Jackson Barr syndrome - See Deafness conductive ptosis skeletal anomalies
* Jackson-Lawler syndrome - See Pachyonychia congenita type 2
* Jackson-Weiss syndrome
* Jacobs syndrome - See 47, XYY syndrome
* Jacobsen syndrome
* Jadassohn Lewandowsky syndrome - See Pachyonychia congenita type 1
* 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 Congenital disorder of glycosylation type 1A
* 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
* Jamaican vomiting sickness
* Jancar syndrome - See Mental retardation spasticity ectrodactyly
* Jankovic Rivera syndrome
* Jansen type metaphyseal chondrodysplasia
* Jansky-Bielschowsky disease - See Ceroid lipofuscinosis neuronal 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 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-H - See Junctional epidermolysis bullosa, Herlitz type
* JEB-Herlitz type - See Junctional epidermolysis bullosa, Herlitz type
* JEB-I - See Junctional epidermolysis bullosa inversa
* JEB-nH - See Junctional epidermolysis bullosa, non-Herlitz type
* JEB-PA - See Junctional epidermolysis bullosa with pyloric atresia
* Jejunal atresia
* Jejunal atresia with renal adysplasia
* 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
* JHF - See Juvenile hyaline fibromatosis
* 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 - See Hyper IgE syndrome
* Job syndrome autosomal dominant - See Autosomal dominant hyper IgE syndrome
* Job's syndrome - See 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 Aase-Smith syndrome
* Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns - See Johnston Aarons Schelley syndrome
* Joint contractures, right acetabular dysplasia, ulno-fibular dysostosis, and bilateral talipes equinovarus with calcaneocuboid fusion - See Camptodactyly joint contractures and facial skeletal dysplasia
* Joint instability syndrome - See Joint laxity, familial
* Joint laxity, familial
* Joint replacement infection - See Prosthetic joint infection
* Jones Hersh Yusk syndrome
* Jones syndrome
*   Jonston's Alopecia - See Alopecia areata
* 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 ocular anomalies
* Joubert syndrome with oculorenal anomalies
* Joubert syndrome with orofacialdigital anomalies - See Orofaciodigital syndrome 6
* Joubert syndrome with renal anomalies
* Joubert-Boltshauser syndrome - See Joubert syndrome
* JP - See Autosomal recessive juvenile Parkinson disease
* JPD - See Paget disease, juvenile
* JPLS - See Juvenile primary lateral sclerosis
* JPM - See Juvenile dermatomyositis
* JPMR - See Juvenile temporal arteritis
* JPS - See Juvenile polyposis syndrome
* JSD - See Juvenile Scleroderma
* Juberg Marsidi syndrome
* Juberg-Hayward syndrome
* Juberg-Hellman syndrome - See Epilepsy, female restricted, with mental retardation
* Juberg-Marsidi Mental Retardation Syndrome - See Juberg Marsidi syndrome
* Juberg-Marsidi syndrome - See Mental retardation-hypotonic facies syndrome X-linked, 1
* Judge Misch Wright syndrome
* Jumping Frenchmen of Maine
* Junctional epidermolysis bullosa
* Junctional epidermolysis bullosa - pyloric atresia - See Junctional epidermolysis bullosa with pyloric atresia
* Junctional epidermolysis bullosa generalisata gravis - See Junctional epidermolysis bullosa, Herlitz type
* Junctional epidermolysis bullosa inversa
* Junctional epidermolysis bullosa with pyloric atresia
* Junctional epidermolysis bullosa, Herlitz type
* Junctional epidermolysis bullosa, non-Herlitz type
* Jung Wolff Back Stahl syndrome
* Juvenile absence epilepsy - See Epilepsy juvenile absence
* Juvenile amyotrophic lateral sclerosis
*   Juvenile arthritis - See Juvenile idiopathic arthritis
* Juvenile carcinoma (formerly) - See Secretory breast carcinoma
* Juvenile cataract, cerebellar atrophy, mental retardation, and myopathy - See Marinesco-Sjogren-like syndrome (MSLS)
*   Juvenile chronic arthritis - See Juvenile idiopathic arthritis
* Juvenile CLN (type of CLN1) - See Ceroid lipofuscinosis neuronal 1
* 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 gout - See Familial juvenile hyperuricaemic nephropathy
* Juvenile gouty nephropathy - See Gouty nephropathy, familial
* Juvenile hemochromatosis - See Hemochromatosis type 2
* Juvenile hereditary epithelial dystrophy - See Meesmann corneal dystrophy
* Juvenile Huntington disease
* Juvenile hyaline fibromatosis
*   Juvenile idiopathic arthritis
* 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 linear scleroderma - See Juvenile Scleroderma
* Juvenile macular degeneration and hypotrichosis
* Juvenile macular dystrophy and congenital hypotrichosis - See Juvenile macular degeneration and hypotrichosis
* 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 Batten disease
* Juvenile onset HD - See Juvenile Huntington disease
* Juvenile onset macular degeneration - See Stargardt disease
* Juvenile osteoporosis
* Juvenile Paget disease - See Paget disease, juvenile
* Juvenile parkinsonism - See Autosomal recessive juvenile Parkinson disease
* Juvenile pilocytic astrocytoma - See Pilocytic astrocytoma
* 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 - See Juvenile dermatomyositis
* Juvenile polyposis syndrome
* Juvenile primary lateral sclerosis
* Juvenile retinoschisis
*   Juvenile rheumatoid arthritis - See Juvenile idiopathic arthritis
* Juvenile Scleroderma
* Juvenile sulfatidosis - See Multiple sulfatase deficiency
* Juvenile systemic scleroderma - See Juvenile Scleroderma
* Juvenile temporal arteritis
* Juvenile-onset dystonia
* Juvenile-onset recurrent respiratory papillomatosis (type) - See Recurrent respiratory papillomatosis
* Juvenile-onset scleroderma - See Juvenile Scleroderma
* Juvenile-onset small-fiber polyneuropathy
* JWS - See Jackson-Weiss syndrome