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Echinobase
Summary Literature (0)
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:
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)