Genetic diseases-J
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- Jackson-Lawler syndrome (PC-2) see Pachyonychia congenita
- Jackson-Weiss syndrome
- Jacob's syndrome see 47,XYY syndrome
- Jacobsen syndrome
- Jacobsen thrombocytopenia see Jacobsen syndrome
- Jadassohn-Lewandowski syndrome (PC-1) see Pachyonychia congenita
- Jaeken syndrome see PMM2-congenital disorder of glycosylation
- JAK3 SCID see JAK3-deficient severe combined immunodeficiency
- JAK3-deficient severe combined immunodeficiency
- Jankovic-Rivera syndrome see Spinal muscular atrophy with progressive myoclonic epilepsy
- Jansky-Bielschowsky disease see CLN5 disease
- Jansky-Bielschowsky disease see CLN2 disease
- Janz syndrome see Juvenile myoclonic epilepsy
- Japanese autoinflammatory syndrome with lipodystrophy see Nakajo-Nishimura syndrome
- Jarcho-Levin syndrome see Spondylocostal dysostosis
- Jarcho-Levin syndrome see Spondylothoracic dysostosis
- JASL see Nakajo-Nishimura syndrome
- jaundice, chronic idiopathic see Dubin-Johnson syndrome
- JBTS see Joubert syndrome
- JEB see Junctional epidermolysis bullosa
- JEB-LOC see Laryngo-onycho-cutaneous syndrome
- Jensen syndrome see Deafness-dystonia-optic neuronopathy syndrome
- Jervell and Lange-Nielsen syndrome
- Jervell-Lange Nielsen syndrome see Jervell and Lange-Nielsen syndrome
- Jeune syndrome see Asphyxiating thoracic dystrophy
- Jeune thoracic dysplasia see Asphyxiating thoracic dystrophy
- Jeune thoracic dystrophy see Asphyxiating thoracic dystrophy
- JIA see Juvenile idiopathic arthritis
- JIP see Juvenile polyposis syndrome
- JLNS see Jervell and Lange-Nielsen syndrome
- Job syndrome see Autosomal dominant hyper-IgE syndrome
- Job's Syndrome see Autosomal dominant hyper-IgE syndrome
- Job-Buckley syndrome see Autosomal dominant hyper-IgE syndrome
- JOD see Type 1 diabetes
- Joubert syndrome
- Joubert-Bolthauser syndrome see Joubert syndrome
- JPD see Juvenile Paget disease
- JPLS see Juvenile primary lateral sclerosis
- JPS see Juvenile polyposis syndrome
- JRA see Juvenile idiopathic arthritis
- Junctional epidermolysis bullosa
- junctional epidermolysis bullosa with pyloric atresia see Epidermolysis bullosa with pyloric atresia
- juvenile Batten disease see CLN3 disease
- Juvenile cerebroretinal degeneration see CLN3 disease
- juvenile chronic arthritis see Juvenile idiopathic arthritis
- juvenile diabetes see Type 1 diabetes
- juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
- juvenile hereditary epithelial dystrophy see Meesmann corneal dystrophy
- juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
- Juvenile idiopathic arthritis
- juvenile intestinal polyposis see Juvenile polyposis syndrome
- juvenile macular degeneration see Stargardt macular degeneration
- Juvenile myoclonic epilepsy
- juvenile neuronal ceroid lipofuscinosis see CLN3 disease
- Juvenile Paget disease
- juvenile Paget's disease see Juvenile Paget disease
- juvenile pernicious anemia with proteinuria due to selective intestinal malabsorption of vitamin B12 see Imerslund-Gräsbeck syndrome
- juvenile PLS see Juvenile primary lateral sclerosis
- Juvenile polyposis syndrome
- Juvenile primary lateral sclerosis
- Juvenile primary osteoporosis
- juvenile RA see Juvenile idiopathic arthritis
- juvenile retinoschisis see X-linked juvenile retinoschisis
- juvenile rheumatoid arthritis see Juvenile idiopathic arthritis
- juvenile subacute necrotizing encephalopathy see Leigh syndrome
- juvenile sulfatidosis, Austin type see Multiple sulfatase deficiency
- juvenile-onset diabetes see Type 1 diabetes
- juvenile-onset diabetes mellitus see Type 1 diabetes
- juxtaglomerular hyperplasia with secondary aldosteronism see Bartter syndrome
- JWS see Jackson-Weiss syndrome
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Contributors: Prab R. Tumpati, MD