About   Help   FAQ
Disease Ontology Browser
craniofaciocardiohepatic syndrome (DOID:0070791)
Alliance: disease page
Synonyms: CFCHS
Alt IDs: OMIM:621192, ICD10CM:Q87.0, ORDO:660021, UMLS_CUI:C5925125, UMLS_CUI:C6012720
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
07/14/2026
MGI 6.24 		The Jackson Laboratory