JSON

microcephaly, epilepsy, and diabetes syndrome 1

^ http://purl.obolibrary.org/obo/MONDO_0031481

Term info

database cross reference
  • UMLS:C3280240 (OMIM:614231)
  • Orphanet:306558 (OMIM:614231)
  • OMIM:614231 (Orphanet:306558/e)
Subsets

ordo_disease

abbreviation
MEDS1 [ MONDO:Lexical OMIM:614231 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/614231, http://linkedlifedata.com/resource/umls/id/C3280240, http://purl.obolibrary.org/obo/Orphanet_306558

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015655, http://purl.obolibrary.org/obo/MONDO_0017119, http://purl.obolibrary.org/obo/MONDO_0005015

has broad synonym

microcephaly, epilepsy, and diabetes syndrome

has exact synonym

primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MEDS1

id

MONDO:0031481