| Metadata | |
|---|---|
| ID | DOID:0070830 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070830 Copy |
| Name | microcephaly, epilepsy, and diabetes syndrome 1 |
| Definition | A microcephaly, epilepsy, and diabetes syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/21835305/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C3280240 exactMatch MIM:614231 |
| Subsets |
DO_rare_slim |
| Synonyms |
MEDS1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |