Visualize Submit Comment
Metadata
ID DOID:0111581
Name C syndrome
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 CD96 on chromosome 3q13.1-q13.2.
https://www.ncbi.nlm.nih.gov/pubmed/17847009
Xrefs

GARD:5978

MESH:C537418

OMIM:211750

ORDO:1308

SNOMEDCT_US_2019_09_01:715409005

UMLS_CUI:C0796095

Synonyms

Opitz C trigonocephaly [EXACT]

Opitz trigonocephaly C syndrome [EXACT]

Opitz trigonocephaly syndrome [EXACT]

OTCS [EXACT]

trigonocephaly C syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

Add an item to the term tracker