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Disease Ontology Browser
Cohen syndrome (DOID:0111590)
Alliance: disease page
Synonyms: COH1; Hypotonia, obesity, and prominent incisors; Pepper syndrome
Alt IDs: OMIM:216550, MESH:C536438, ORDO:193, UMLS_CUI:C0265223
Definition: A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2.

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
03/25/2025
MGI 6.24 		The Jackson Laboratory