inborn errors of metabolism
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 MONDO:cjm NCIT:C34816 ]
Term info
- MESH:D008661 (Orphanet:68367/e)
- MedDRA:10058097 (Orphanet:68367/e)
- NCIT:C34816 (MONDO:equivalentTo)
- UMLS:C0025521 (Orphanet:68367/e)
- SCTID:86095007 (MONDO:equivalentTo)
- MedDRA:10062018 (Orphanet:68367/e)
- Orphanet:68367 (MONDO:equivalentTo)
- DOID:655 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/1483
http://identifiers.org/meddra/10058097, http://identifiers.org/meddra/10062018
Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
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
inborn metabolism disorder, inborn errors of metabolism, inherited metabolic disorder, inherited disorders of metabolism, 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
rare inherited metabolic disorder, rare inborn errors of metabolism
rare metabolic disease
MONDO:0019052