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Disease Ontology Browser
Johanson-Blizzard syndrome (DOID:14694)
Synonyms: Johanson-Blizzard syndrome (disorder)
Alt IDs: OMIM:243800, MESH:C535880, UMLS_CUI:C0175692
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory