Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. [ MONDO:cjm NCIT:C34816 https://github.com/monarch-initiative/mondo/issues/1483 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:86095007 (MONDO:equivalentTo)
  • UMLS:C0025521 (Orphanet:68367)
  • MESH:D008661 (Orphanet:68367)
  • MedDRA:10062018 (Orphanet:68367)
  • NCIT:C34816 (MONDO:equivalentTo)
  • DOID:655 (MONDO:equivalentTo)
  • MedDRA:10058097 (Orphanet:68367)
  • Orphanet:68367 (note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1)
Subsets

ordo_group_of_disorders

closeMatch

http://identifiers.org/snomedct/363205007

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

definition

Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.

exactMatch

http://identifiers.org/meddra/10058097

http://www.orpha.net/ORDO/Orphanet_68367

http://identifiers.org/mesh/D008661

http://identifiers.org/meddra/10062018

http://identifiers.org/snomedct/86095007

http://purl.obolibrary.org/obo/NCIT_C34816

http://purl.obolibrary.org/obo/DOID_655

http://linkedlifedata.com/resource/umls/id/C0025521

has exact synonym

inborn metabolism disorder

inborn errors of metabolism

inherited metabolic disorder

congenital metabolic disorder

congenital metabolism disorder

hereditary metabolic disease

inborn error of metabolism

metabolic hereditary disorder

has narrow synonym

rare inherited metabolic disorder

rare inborn errors of metabolism

has related synonym

rare metabolic disease

id

MONDO:0019052

Term relations