| Metadata | |
|---|---|
| ID | DOID:0070792 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070792 Copy |
| Name | Dursun-Ozgul neurodevelopmental syndrome |
| Definition | An autosomal recessive intellectual developmental disorder characterized by varying degrees of developmental disability, epilepsy, and movement disorders that has_material_basis_in homozygous mutation in the ELFN1 gene on chromosome 7p22. https://pubmed.ncbi.nlm.nih.gov/40576023/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621344 exactMatch UMLS_CUI:C6065959 |
| Subsets |
DO_rare_slim |
| Synonyms |
DONDS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |