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DOID:14694 - Johanson-Blizzard syndrome
Disease Ontology 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.
Synonyms: JBS, Johanson-Blizzard syndrome (disorder)
Xenbase Genes
:
ubr1
| MONDO:0009479 - ectoderm of buccopharyngeal membrane |
| MIM:243800 - JOHANSON-BLIZZARD SYNDROME; JBS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)