Johanson-Blizzard syndrome (DOID:14694)
Alliance: disease page
Synonyms: JBS
Alt IDs: OMIM:243800, MESH:C535880, ORDO:2315, UMLS_CUI:C0175692
Definition: A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.