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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:cerebrotendinous xanthomatosis
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Accession:EFO:MONDO:0008948 term browser browse the term
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.
Synonyms:exact_synonym: CTx;   cholestanol storage disease;   sterol 27-hydroxylase deficiency
 related_synonym: cerebral cholesterinosis
 alt_id: MONDO:0008948
 xref: DOID:4810;   GARD:5622;   MEDGEN:116041;   MESH:D019294;   MIM:213700;   NANDO:1200856;   NCI:C84628;   NORD:915;   ORDO:909;   SCTID:63246000;   UMLS:C0238052;   icd11.foundation:1556875179
 see_also: https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis" xsd:anyURI {source="GARD:0005622


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            syndromic dyslipidemia 0
              cerebrotendinous xanthomatosis 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                mental or behavioural disorder 0
                  cognitive disorder 0
                    dementia 0
                      hereditary dementia 0
                        cerebral lipidosis with dementia 0
                          cerebrotendinous xanthomatosis 0
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