loading...| Preferred Name | inborn errors of metabolism | |
| Synonyms |
rare inherited metabolic disorder rare inborn errors of metabolism rare metabolic disease 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 |
|
| Definitions |
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 |
|
| closeMatch | ||
| database_cross_reference |
icd11.foundation:733825440 NCIT:C34816 NANDO:2100159 MEDGEN:6323 MESH:D008661 MedDRA:10058097 Orphanet:68367 UMLS:C0025521 SCTID:86095007 MedDRA:10062018 DOID:655 GARD:22508 |
|
| definition |
An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. |
|
| exactMatch |
http://identifiers.org/medgen/6323 http://purl.obolibrary.org/obo/DOID_655 http://purl.obolibrary.org/obo/Orphanet_68367 http://linkedlifedata.com/resource/umls/id/C0025521 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/733825440 http://identifiers.org/snomedct/86095007 |
|
| has_exact_synonym |
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 |
|
| has_narrow_synonym |
rare inherited metabolic disorder rare inborn errors of metabolism |
|
| has_related_synonym |
rare metabolic disease |
|
| IAO_0000233 | ||
| id |
MONDO:0019052 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
inborn errors of metabolism |
|
| notation |
MONDO:0019052 |
|
| preferred label |
inborn errors of metabolism |
|
| prefLabel |
inborn errors of metabolism |
|
| subClassOf |