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Disease Ontology Browser
Johanson-Blizzard syndrome (DOID:14694)
Alliance: disease page
Synonyms: JBS
Alt IDs: OMIM:243800, MESH:C535880, ORDO:2315, UMLS_CUI:C0175692
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory