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DOID:14694 - Johanson-Blizzard syndrome
Disease Ontology Definition:An autosomal recessive disease 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: Johanson-Blizzard syndrome (disorder),
Echinobase Genes :
MIM:243800 - johanson-blizzard syndrome; jbs |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)