cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome Disease Ontology Browser

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Disease Ontology Browser

cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome (DOID:0070789)
Alliance: disease page
Synonyms: CAOP; CAOP syndrome
Alt IDs: OMIM:621252, UMLS_CUI:C6012743
Definition: A syndrome characterized by early-onset lens cataract, generalized nonscarring alopecia, oral mucosal disorder, and severe psoriasiform skin lesions affecting the scalp, facial, inguinal region, buttocks and lower extremities that has_material_basis_in compound heterozygous mutation in the MBTPS1 gene on chromosome 1p21.

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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