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 :
|OMIM: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)