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

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:18981 (Orphanet:79226)
  • UMLS:CN227607 (MONDO:equivalentTo)
  • Orphanet:79226 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://www.orpha.net/ORDO/Orphanet_79226

http://linkedlifedata.com/resource/umls/id/CN227607

id

MONDO:0019256

Term relations