JSON

permanent neonatal diabetes mellitus

^ 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 ]

Term info

database cross reference
  • NCIT:C114902 (MONDO:equivalentTo)
  • Orphanet:99885 (OMIMPS:606176)
  • DOID:0060639 (MONDO:equivalentTo)
  • MESH:C563425 (MONDO:equivalentTo)
  • UMLS:C1833104 (Orphanet:99885)
  • SCTID:609565001 (MONDO:equivalentTo)
  • OMIMPS:606176 (Orphanet:99885/e)
  • GARD:0010457 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
PNDM [ Orphanet:99885 OMIMPS:606176 MONDO:Lexical DOID:0060639 ]

abbreviation
PDMI [ OMIMPS:606176 DOID:0060639 ]

IAO 0000233

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

created by

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

definition

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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C114902, http://purl.obolibrary.org/obo/Orphanet_99885, http://identifiers.org/snomedct/609565001, http://linkedlifedata.com/resource/umls/id/C1833104, http://purl.obolibrary.org/obo/DOID_0060639, http://identifiers.org/mesh/C563425, https://omim.org/phenotypicSeries/PS606176

has exact synonym

PNDM, monogenic diabetes of infancy, PDMI, permanent diabetes mellitus of infancy

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