loading...| Preferred Name |
inborn errors of metabolism |
|
| Synonyms |
inherited disorder of metabolism metabolic hereditary disorder inherited metabolic disorder hereditary metabolic disease inborn metabolism disorder inborn error of metabolism congenital metabolism disorder inborn errors of metabolism inherited disorders of metabolism inborn disorders of metabolism inborn metabolic disorder congenital metabolic disorder rare metabolic disease rare inherited metabolic disorder rare inborn errors of metabolism |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019052 |
|
| comment |
Note that the ordo class is specifically for rare diseases, but we broaden to be inclusive of HH1 |
|
| closeMatch | ||
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_655 http://linkedlifedata.com/resource/umls/id/C0025521 http://www.orpha.net/ORDO/Orphanet_68367 http://identifiers.org/snomedct/86095007 |
|
| hasDbXref |
NCIT:C34816 MESH:D008661 MedDRA:10058097 Orphanet:68367 UMLS:C0025521 SCTID:86095007 MedDRA:10062018 DOID:655 GARD:22508 |
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| hasExactSynonym |
inherited disorder of metabolism metabolic hereditary disorder inherited metabolic disorder hereditary metabolic disease inborn metabolism disorder inborn error of metabolism congenital metabolism disorder inborn errors of metabolism inherited disorders of metabolism inborn disorders of metabolism inborn metabolic disorder congenital metabolic disorder |
|
| hasNarrowSynonym |
rare inherited metabolic disorder rare inborn errors of metabolism |
|
| hasRelatedSynonym |
rare metabolic disease |
|
| IAO_0000115 |
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. |
|
| IAO_0000233 | ||
| id |
MONDO:0019052 |
|
| inSubset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
inborn errors of metabolism |
|
| notation |
MONDO:0019052 |
|
| prefLabel |
inborn errors of metabolism |
|
| subClassOf |