JSON

inborn errors of metabolism

Go to external page http://purl.obolibrary.org/obo/MONDO_0019052

An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. [ https://github.com/monarch-initiative/mondo/issues/1483 NCIT:C34816 https://orcid.org/0000-0002-6601-2165 ]

Synonyms: inborn metabolism disorder inherited disorders of metabolism inborn errors of metabolism inherited metabolic disorder congenital metabolism disorder congenital metabolic disorder hereditary metabolic disease inherited disorder of metabolism inborn error of metabolism inborn disorders of metabolism inborn metabolic disorder metabolic hereditary disorder

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:86095007 (MONDO:equivalentTo)
  • MedDRA:10058097 (Orphanet:68367/e)
  • MEDGEN:6323 (MONDO:equivalentTo)
  • NCIT:C34816 (MONDO:equivalentTo)
  • NANDO:2100159 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:68367 (MONDO:equivalentTo)
  • GARD:22508 (MONDO:GARD)
  • UMLS:C0025521 (MONDO:equivalentTo)
  • MESH:D008661 (Orphanet:68367/e)
  • DOID:655 (MONDO:equivalentTo)
  • MedDRA:10062018 (Orphanet:68367/e)
Subsets

gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders

ClinGen label
inborn errors of metabolism [ NCIT:C34816 DOID:655 ]

closeMatch

http://identifiers.org/meddra/10058097

http://identifiers.org/meddra/10062018

comment

Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1

conformsTo

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

exactMatch

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

http://identifiers.org/mesh/D008661

http://identifiers.org/medgen/6323

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 narrow synonym

rare inherited metabolic disorder

rare inborn errors of metabolism

has related synonym

rare metabolic disease

id

MONDO:0019052

term tracker item

https://github.com/monarch-initiative/mondo/issues/1483

Term relations