Terminology Service for NFDI4Health
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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 ]

Term info

Label

inborn errors of metabolism

Synonyms
  • congenital metabolic disorder
  • congenital metabolism disorder
  • hereditary metabolic disease
  • inborn disorders of metabolism
  • inborn error of metabolism
  • inborn errors of metabolism
  • inborn metabolic disorder
  • inborn metabolism disorder
  • inherited disorder of metabolism
  • inherited disorders of metabolism
  • inherited metabolic disorder
  • metabolic hereditary disorder
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

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

exactMatch

http://identifiers.org/mesh/D008661, http://purl.obolibrary.org/obo/Orphanet_68367, http://identifiers.org/snomedct/86095007, http://purl.obolibrary.org/obo/NCIT_C34816, http://linkedlifedata.com/resource/umls/id/C0025521, http://purl.obolibrary.org/obo/DOID_655

has narrow synonym

rare inherited metabolic disorder, rare inborn errors of metabolism

has related synonym

rare metabolic disease

id

MONDO:0019052

see also

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

Term relations

Equivalent to: