About: Galactosemia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Galactosemia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Galactosemia
UMLS_CUI
  • C0016952
Contributing_Source
  • NICHD
FULL_SYN
  • GalactosemiaPTNCI
  • GalactosemiaPTNICHD
DEFINITION
  • An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.NCI
code
  • C84723
http://linked.open...y/mesh/hasConcept
is rdfs:subClassOf of
is Has_NICHD_Parent of
is sameAs of
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