| Metadata | |
|---|---|
| ID | DOID:0070791 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070791 Copy |
| Name | craniofaciocardiohepatic syndrome |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch ORDO:660021 exactMatch MIM:621192 exactMatch UMLS_CUI:C6012720 broadMatch ICD10CM:Q87.0 |
| Subsets |
DO_rare_slim |
| Synonyms |
CFCHS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |