| Metadata | |
|---|---|
| ID | DOID:0070802 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070802 Copy |
| Name | Gabriele-de Vries syndrome |
| Definition | An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the YY1 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/28575647/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1186730002 |
| SKOS |
exactMatch NCI:C165531 exactMatch ORDO:506358 exactMatch UMLS_CUI:C4479652 exactMatch MIM:617557 broadMatch ICD10CM:Q87.8 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |