A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/7213387 url:https://www.ncbi.nlm.nih.gov/pubmed/12471062 ]

Synonyms: methylmalonic aciduria cblB type methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type

This is just here as a test because I lose it

Term information

database cross reference
  • ORDO:79311
  • MIM:251110
  • ICD10CM:E71.1
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0060743