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Homocystinuria-Megaloblastic Anemia, cblE Complementation Type

Go to external page http://purl.obolibrary.org/obo/NCIT_C142173

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. [ ]

Term info

Label

Homocystinuria-Megaloblastic Anemia, cblE Complementation Type

Synonyms
  • HMAE
  • Homocystinuria-Megaloblastic Anemia, cblE Complementation Type
  • Methylcobalamin Deficiency, cblE Type
Preferred Name

Homocystinuria-Megaloblastic Anemia, cblE Complementation Type

Semantic Type

Disease or Syndrome

UMLS CUI

C1856057

code

C142173

Term relations