An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process. [ MONDO:patterns/inborn_metabolic ]
Synonyms: inborn sterol metabolic process disorder inborn error of sterol metabolic process rare inborn error of sterol metabolic process
Term information
- GARD:18981 (Orphanet:79226)
- UMLS:CN227607 (MONDO:equivalentTo)
- Orphanet:79226 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_79226
http://linkedlifedata.com/resource/umls/id/CN227607