An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process. [ MONDO:patterns/inborn_metabolic ]
Synonyms: inborn error of sterol biosynthetic process inborn sterol biosynthetic process disorder rare inborn error of sterol biosynthetic process
Term information
- GARD:18969 (Orphanet:79195)
- Orphanet:79195 (MONDO:equivalentTo)
- UMLS:CN227602 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
http://www.orpha.net/ORDO/Orphanet_79195
http://linkedlifedata.com/resource/umls/id/CN227602