maturity-onset diabetes of the young type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0007452


Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. [ NCIT:C129744 ]

Synonyms: mild juvenile diabetes mellitus MODY type 1 maturity onset diabetes of the Young, type 1 MODY, type I HNF4A-associated monogenic diabetes MODY1 hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes diabetes mellitus type 2

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C565101 (MONDO:equivalentTo)
  • GARD:3418 (MONDO:GARD)
  • UMLS:C1852093 (MONDO:equivalentTo)
  • MEDGEN:377589 (MONDO:equivalentTo)
  • SCTID:609562003 (MONDO:equivalentTo)
  • DOID:0111099 (MONDO:equivalentTo)
  • OMIM:125850 (MONDO:equivalentTo)
  • NCIT:C129744 (MONDO:equivalentTo)
  • NANDO:2200461 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:2201069 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, rare, nord_rare

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C1852093

https://omim.org/entry/125850

http://identifiers.org/medgen/377589

http://purl.obolibrary.org/obo/DOID_0111099

http://purl.obolibrary.org/obo/NCIT_C129744

http://identifiers.org/mesh/C565101

http://identifiers.org/snomedct/609562003

has related synonym

diabetes mellitus MODY type 1

maturity-onset diabetes of the young, type 1

type 1 maturity-onset diabetes of the young

MODY HNF4A related

MODY, type 1

id

MONDO:0007452

seeAlso

https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1