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DOID:0111581 - C syndrome
Disease Ontology 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.
Synonyms: OTCS, Opitz C trigonocephaly, Opitz trigonocephaly C syndrome, Opitz trigonocephaly syndrome, trigonocephaly C syndrome,
Xenbase Genes
:
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)