An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. [ NCIT:C34816 https://github.com/monarch-initiative/mondo/issues/1483 https://orcid.org/0000-0002-6601-2165 ]
Synonyms: inborn metabolism disorder inborn errors of metabolism inherited metabolic disorder inherited disorders of metabolism congenital metabolic disorder congenital metabolism disorder hereditary metabolic disease inherited disorder of metabolism inborn disorders of metabolism inborn error of metabolism inborn metabolic disorder metabolic hereditary disorder
Term information
- DOID:655 (MONDO:equivalentTo)
- NANDO:2100159 (https://orcid.org/0000-0003-0011-764X)
- MedDRA:10062018 (Orphanet:68367/e)
- UMLS:C0025521 (MONDO:equivalentTo)
- MEDGEN:6323 (MONDO:equivalentTo)
- MESH:D008661 (Orphanet:68367/e)
- NCIT:C34816 (MONDO:equivalentTo)
- GARD:22508 (MONDO:GARD)
- Orphanet:68367 (MONDO:equivalentTo)
- SCTID:86095007 (MONDO:equivalentTo)
- MedDRA:10058097 (Orphanet:68367/e)
gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders
Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1
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