Johanson-Blizzard syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ubr1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009479 - Johanson-Blizzard syndrome

MONDO:0009479 - Johanson-Blizzard syndrome

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), syndrome (is_a)