| Metadata | |
|---|---|
| ID | DOID:0070831 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070831 Copy |
| Name | microcephaly, epilepsy, and diabetes syndrome 2 |
| Definition | A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous mutation in the YIPF5 gene on chromosome 5q31. https://pubmed.ncbi.nlm.nih.gov/33164986/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C5543294 exactMatch MIM:619278 |
| Subsets |
DO_rare_slim |
| Synonyms |
MEDS2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |