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Disease Ontology Browser
Bowen-Conradi syndrome (DOID:0050684)
Alliance: disease page
Synonyms: Bowen Hutterite syndrome; Bowen-Conradi Hutterite syndrome; BWCNS
Alt IDs: OMIM:211180, MESH:C537081, ORDO:1270, UMLS_CUI:C1859405
Definition: A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.

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