- 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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