Terminology Service for NFDI4Health
JSON

Arakawa Syndrome II

Go to external page http://purl.obolibrary.org/obo/NCIT_C99081

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. [ ]

Term info

Label

Arakawa Syndrome II

Synonyms
  • Arakawa Syndrome II
  • Arakawa's Syndrome 2
  • Arakawa's Syndrome II
  • Homocystinuria-Megaloblastic Anemia, cblG Complementation Type
  • Methionine Synthase Deficiency
  • Methylcobalamin Deficiency, cblG Type
  • Tetrahydrofolate Methyltransferase Deficiency
Subsets

NCIT_C99147, NCIT_C90259

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

NICHD Hierarchy Term

Arakawa Syndrome II

Preferred Name

Arakawa Syndrome II

Semantic Type

Disease or Syndrome

UMLS CUI

C0268611

code

C99081

Term relations