Search Ontology:
Human Disease

craniofaciocardiohepatic syndrome

Term ID
DOID:0070791
Synonyms
  • CFCHS
Definition
A syndrome characterized by orofacial clefting, congenital heart disease, tall stature with variable dysmorphic features, gastrointestinal involvement, and developmental delay that has_material_basis_in heterozygous mutation in the AMOTL1 gene on chromosome 11q21. https://pubmed.ncbi.nlm.nih.gov/36751037/
References
  • ICD10CM:Q87.0
  • MIM:621192
  • ORDO:660021
  • UMLS_CUI:C5925125
  • UMLS_CUI:C6012720
Ontology
Human Disease   ( DOID:0070791 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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