JSON

permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0012192

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. [ Orphanet:65288 ]

Term info

database cross reference
  • Orphanet:65288 (OMIM:609069)
  • OMIM:609069 (Orphanet:65288/e)
  • MESH:C563796 (MONDO:equivalentTo)
  • UMLS:C1836780 (Orphanet:65288)
Subsets

ordo_malformation_syndrome

definition

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.

exactMatch

http://identifiers.org/mesh/C563796, http://purl.obolibrary.org/obo/Orphanet_65288, https://omim.org/entry/609069, http://linkedlifedata.com/resource/umls/id/C1836780

has exact synonym

pancreatic and cerebellar agenesis

has related synonym

diabetes mellitus, permanent neonatal, with cerebellar agenesis, paca

id

MONDO:0012192