Genetic diseases-J

• 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