loading...| Preferred Name |
inborn errors of metabolism |
|
| Synonyms |
metabolic hereditary disorder inherited metabolic disorder hereditary metabolic disease inborn metabolism disorder inborn error of metabolism congenital metabolism disorder inborn errors of metabolism congenital metabolic disorder rare metabolic disease rare inherited metabolic disorder rare inborn errors of metabolism |
|
| Definitions |
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. The inborn errors of metabolism are typically rare, but this class also encompasses non-rare diseases like hereditary hemochromatosis type 1 |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019052 |
|
| closeMatch | ||
| database_cross_reference |
NCIT:C34816 MESH:D008661 MedDRA:10058097 Orphanet:68367 UMLS:C0025521 SCTID:86095007 MedDRA:10062018 DOID:655 |
|
| 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 |
|
| fromPubMed |
true |
|
| has exact synonym |
metabolic hereditary disorder inherited metabolic disorder hereditary metabolic disease inborn metabolism disorder inborn error of metabolism congenital metabolism disorder inborn errors of metabolism congenital metabolic disorder |
|
| has_narrow_synonym |
rare inherited metabolic disorder rare inborn errors of metabolism |
|
| hasDbXRef | ||
| 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 |
|
| oboInOwl:hasRelatedSynonym |
rare metabolic disease |
|
| prefLabel |
inborn errors of metabolism |
|
| 文本定义 |
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. The inborn errors of metabolism are typically rare, but this class also encompasses non-rare diseases like hereditary hemochromatosis type 1 |
|
| subClassOf |