loading...| Preferred Name | steroid inherited metabolic disorder | |
| Synonyms |
steroid inherited metabolic disorder |
|
| Definitions |
Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. A lipid metabolism disorder that involves defects in steroid metabolism. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0005590 |
|
| database_cross_reference |
MEDGEN:219772 MESH:D043202 UMLS:C1257809 MONDO:0005523 DOID:1701 |
|
| definition |
Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. A lipid metabolism disorder that involves defects in steroid metabolism. |
|
| has_exact_synonym |
steroid inherited metabolic disorder |
|
| id |
EFO:0005590 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
steroid inherited metabolic disorder |
|
| notation |
EFO:0005590 |
|
| preferred label |
steroid inherited metabolic disorder |
|
| prefLabel |
steroid inherited metabolic disorder |
|
| skos_exactMatch |
http://identifiers.org/mesh/D043202 http://linkedlifedata.com/resource/umls/id/C1257809 http://purl.obolibrary.org/obo/EFO_0005590 |
|
| subClassOf |