About: Arakawa's Syndrome II     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Arakawa's Syndrome II
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Arakawa's Syndrome II
UMLS_CUI
  • C0268611
Contributing_Source
  • NICHD
FULL_SYN
  • Tetrahydrofolate Methyltransferase DeficiencySYNCI
  • Tetrahydrofolate Methyltransferase DeficiencyPTNICHD
  • Arakawa's Syndrome 2SYNCI
  • Arakawa's Syndrome IIPTNCI
DEFINITION
  • A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.NCI
code
  • C99081
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