About: Transferase Deficiency Galactosemia     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Transferase Deficiency Galactosemia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Transferase Deficiency Galactosemia
UMLS_CUI
  • C0268151
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Transferase_Deficient_Galactosemia
FULL_SYN
  • Transferase-deficient GalactosemiaSYNCI
  • Transferase Deficiency GalactosemiaPTNCI
  • Transferase Deficient GalactosemiaPTNICHD
DEFINITION
  • A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase.NCI
code
  • C81325
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