Methylmalonic aciduria, transient, due to transcobalamin receptor defect

Preferred Label : Methylmalonic aciduria, transient, due to transcobalamin receptor defect;

Symbol : MATR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Methylmalonic acidemia, tcblr type;

Prefixed ID : #613646;

Details

Origin ID

613646;

UMLS CUI

C4749905;

Currated CISMeF NLP mapping
- Methylmalonic Acidemia, TcblR Type [NCIt concept]
- Methylmalonic aciduria due to transcobalamin receptor defect [ORDO Disease]
- Methylmalonic aciduria due to transcobalamin receptor defect (disorder) [SNOMED CT concept]
- methylmalonic acidemia due to transcobalamin receptor defect [DO Concept]
DO Cross reference
- methylmalonic acidemia due to transcobalamin receptor defect [DO Concept]
Genes related to phenotype
- Cd320 antigen [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Methylmalonic aciduria [HPO term]
ORDO concept(s)
- Methylmalonic aciduria due to transcobalamin receptor defect [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Acidemia, TcblR Type [NCIt concept]
- Methylmalonic aciduria due to transcobalamin receptor defect [ORDO Disease]
- Methylmalonic aciduria due to transcobalamin receptor defect (disorder) [SNOMED CT concept]
- methylmalonic acidemia due to transcobalamin receptor defect [DO Concept]

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