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Vitamin B12-responsive methylmalonic acidemia, type cblDv2

MedGen UID:
376388
•Concept ID:
C1848554
•
Disease or Syndrome
Synonym: Methylmalonic Aciduria, CblD Type, Variant 2
 
Monarch Initiative: MONDO:0017685
OMIM®: 277410; 611935
Orphanet: ORPHA308442

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVitamin B12-responsive methylmalonic acidemia, type cblDv2

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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