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Disease Ontology Browser
C syndrome (DOID:0111581)
Alliance: disease page
Synonyms: Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opitz trigonocephaly syndrome; OTCS; trigonocephaly C syndrome
Alt IDs: OMIM:211750, MESH:C537418, ORDO:1308, UMLS_CUI:C0796095
Definition: A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory