{
"@context": "/terms/",
"@id": "/phenotype-terms/MONDO_0031481/",
"@type": [
"PhenotypeTerm",
"OntologyTerm",
"Item"
],
"aliases": [
"kyle-gaulton:phenotype_microcephalyEpilepsyAnddiabetessyndrome1"
],
"ancestors": [
"microcephaly, epilepsy, and diabetes syndrome",
"genetic disorder",
"entity",
"hereditary disease",
"human disease",
"disease",
"disposition",
"realizable entity",
"specifically dependent continuant",
"experimental factor",
"continuant",
"microcephaly, epilepsy, and diabetes syndrome 1"
],
"audit": {},
"creation_timestamp": "2024-12-03T17:47:33.837318+00:00",
"description": "primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,MEDS1",
"name": "MONDO_0031481",
"ontology": "MONDO",
"release_timestamp": "2025-01-10T04:16:53.992330+00:00",
"schema_version": "4",
"status": "released",
"submitted_by": {
"@id": "/users/5e3038c4-baa5-4589-b3d8-ad2fe634e826/",
"title": "Ying Sun"
},
"submitter_comment": "MONDO term",
"summary": "microcephaly, epilepsy, and diabetes syndrome 1",
"synonyms": [
"MEDS1",
"primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"
],
"term_id": "MONDO:0031481",
"term_name": "microcephaly, epilepsy, and diabetes syndrome 1",
"uuid": "bf1abaf4-f95c-4642-b68f-2268106b89f5"
}