Search Ontology:
Human Disease

C syndrome

Term ID
DOID:0111581
Synonyms
  • Opitz C trigonocephaly
  • Opitz trigonocephaly C syndrome
  • Opitz trigonocephaly syndrome
  • OTCS
  • trigonocephaly 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 the CD96 gene on chromosome 3q13.1-q13.2. https://www.ncbi.nlm.nih.gov/pubmed/17847009
References
Ontology
Human Disease   ( DOID:0111581 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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