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permanent neonatal diabetes mellitus

Go to external page http://purl.obolibrary.org/obo/MONDO_0100164

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. [ Orphanet:99885 ]

Synonyms: PNDM monogenic diabetes of infancy PDMI permanent diabetes mellitus of infancy

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C563425 (MONDO:equivalentTo)
  • SCTID:609565001 (MONDO:equivalentTo)
  • MEDGEN:371484 (MONDO:equivalentTo)
  • GARD:10457 (MONDO:GARD)
  • NCIT:C114902 (MONDO:equivalentTo)
  • Orphanet:99885 (OMIMPS:606176)
  • UMLS:C1833104 (MONDO:equivalentTo)
  • OMIMPS:606176 (Orphanet:99885/e)
  • DOID:0060639 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

creator

https://orcid.org/0000-0001-5208-3432

exactMatch

http://purl.obolibrary.org/obo/NCIT_C114902

http://identifiers.org/snomedct/609565001

http://linkedlifedata.com/resource/umls/id/C1833104

http://identifiers.org/medgen/371484

http://purl.obolibrary.org/obo/DOID_0060639

http://identifiers.org/mesh/C563425

http://www.orpha.net/ORDO/Orphanet_99885

https://omim.org/phenotypicSeries/PS606176

has related synonym

diabetes mellitus, permanent, of infancy

diabetes mellitus, permanent neonatal

diabetes mellitus, permanent neonatal, with neurologic features

developmental delay, epilepsy, and neonatal diabetes

id

MONDO:0100164

seeAlso

https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus