Combined malonic and methylmalonic aciduria

Preferred Label : Combined malonic and methylmalonic aciduria;

Symbol : CMAMMA;

CISMeF acronym : CMAMMA;

Type : Phenotype, molecular basis known;

Prefixed ID : #614265;

Details

Origin ID

614265;

UMLS CUI

C3280314;

Automatic exact mappings (from CISMeF team)
- combined malonic and methylmalonic acidemia [DO Concept]
CISMeF manual mappings
- Combined malonic and methylmalonic acidemia [ORDO Disease]
Currated CISMeF NLP mapping
- Combined malonic and methylmalonic aciduria (disorder) [SNOMED CT concept]
- combined malonic and methylmalonic aciduria [MeSH concept]
- combined malonic and methylmalonic aciduria [MeSH Supplementary Concept]
DO Cross reference
- combined malonic and methylmalonic acidemia [DO Concept]
Genes related to phenotype
- Acyl-coa synthetase family, member 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Generalized clonic seizure [HPO term]
- Global developmental delay [HPO term]
- Ketoacidosis [HPO term]
- Methylmalonic aciduria [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Combined malonic and methylmalonic acidemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined malonic and methylmalonic acidemia [ORDO Disease]
- Combined malonic and methylmalonic aciduria (disorder) [SNOMED CT concept]
- combined malonic and methylmalonic acidemia [DO Concept]
- combined malonic and methylmalonic aciduria [MeSH concept]
- combined malonic and methylmalonic aciduria [MeSH Supplementary Concept]

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