| Metadata | |
|---|---|
| ID | DOID:0060395 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060395 Copy |
| Name | chromosome 15q24 deletion syndrome |
| Definition | A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. https://www.omim.org/entry/613406 |
| Xrefs |
SNOMEDCT_US_2026_03_01:699308002 |
| SKOS |
exactMatch MESH:C579849 exactMatch GARD:12219 exactMatch UMLS_CUI:C3697269 exactMatch ORDO:94065 broadMatch ICD10CM:Q93.5 |
| Subsets |
DO_rare_slim |
| Synonyms |
15q24 microdeletion syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |