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DO Term : combined malonic and methylmalonic acidemia [DOID:0111263] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
  • synonyms:
  • GARD:10818,
  • OMIM:614265,
  • CMAMMA,
  • ORDO:289504,
  • SNOMEDCT_US_2023_03_01:702365002,
  • UMLS_CUI:C3280314,
  • MESH:C580002,
  • combined malonic and methylmalonic aciduria,
  • 614265
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents