loading...| Preferred Name |
inborn errors of metabolism |
|
| Synonyms |
inborn metabolism disorder metabolic hereditary disorder inborn error of metabolism inborn errors of metabolism congenital metabolic disorder congenital metabolism disorder hereditary metabolic disease inherited metabolic disorder rare metabolic disease rare inherited metabolic disorder rare inborn errors of metabolism |
|
| Definitions |
Rare inherited disorders 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 |
|
| closeMatch | ||
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml |
|
| database_cross_reference |
MedDRA:10062018 Orphanet:68367 MedDRA:10058097 MESH:D008661 NCIT:C34816 DOID:655 UMLS:C0025521 SCTID:86095007 |
|
| exactMatch |
http://identifiers.org/meddra/10062018 http://purl.obolibrary.org/obo/DOID_655 http://linkedlifedata.com/resource/umls/id/C0025521 http://identifiers.org/meddra/10058097 http://www.orpha.net/ORDO/Orphanet_68367 http://identifiers.org/snomedct/86095007 |
|
| has exact synonym |
inborn metabolism disorder metabolic hereditary disorder inborn error of metabolism inborn errors of metabolism congenital metabolic disorder congenital metabolism disorder hereditary metabolic disease inherited metabolic disorder |
|
| has narrow synonym |
rare inherited metabolic disorder rare inborn errors of metabolism |
|
| has related synonym |
rare metabolic disease |
|
| id |
MONDO:0019052 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders |
|
| label |
inborn errors of metabolism |
|
| notation |
MONDO:0019052 |
|
| prefLabel |
inborn errors of metabolism |
|
| textual definition |
Rare inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. |
|
| subClassOf |