|  Help  |  About  |  Contact Us

DO Term : C syndrome [DOID:0111581] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C537418,
  • Opitz C trigonocephaly,
  • OTCS,
  • GARD:5978,
  • Opitz trigonocephaly syndrome,
  • trigonocephaly C syndrome,
  • SNOMEDCT_US_2023_03_01:715409005,
  • ORDO:1308,
  • UMLS_CUI:C0796095,
  • OMIM:211750,
  • 211750,
  • Opitz trigonocephaly C syndrome
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents