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cerebrotendinous xanthomatosis

^ http://purl.obolibrary.org/obo/MONDO_0008948

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. [ Orphanet:909 ]

Term info

database cross reference
  • NCIT:C84628 (MONDO:equivalentTo)
  • UMLS:C0238052 (Orphanet:909/e)
  • DOID:4810 (MONDO:equivalentTo)
  • GARD:0005622 (MONDO:equivalentTo)
  • MESH:D019294 (Orphanet:909/e)
  • Orphanet:909 (OMIM:213700)
  • OMIM:213700 (Orphanet:909/e)
  • SCTID:63246000 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

definition

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84628, http://purl.obolibrary.org/obo/DOID_4810, https://omim.org/entry/213700, http://purl.obolibrary.org/obo/Orphanet_909, http://linkedlifedata.com/resource/umls/id/C0238052, http://identifiers.org/mesh/D019294, http://identifiers.org/snomedct/63246000

has exact synonym

cholestanol storage disease, sterol 27-hydroxylase deficiency, CTx, cerebrotendinous xanthomatosis

has related synonym

cerebral cholesterinosis

id

MONDO:0008948

seeAlso

https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis