Beta-aminoisobutyric aciduria

Preferred Label : Beta-aminoisobutyric aciduria;

Symbol : BAIBA;

CISMeF acronym : BAIBA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Beta-aminoisobutyric acid, urinary excretion of; Hyper-beta-aminoisobutyric aciduria; Baib urinary excretion;

Inheritance : Autosomal recessive;

Prefixed ID : #210100;

Details

Origin ID

210100;

UMLS CUI

C1859518;

Currated CISMeF NLP mapping
- Beta-Aminoisobutyric acid, urinary excretion of [MeSH concept]
- Beta-Aminoisobutyric acid, urinary excretion of [MeSH Supplementary Concept]
- Beta-aminoisobutyric aciduria [HPO term]
- Beta-aminoisobutyric aciduria (disorder) [SNOMED CT concept]
- beta-aminoisobutyricaciduria [SNOMED Notion]
Genes related to phenotype
- Alanine-glyoxylate aminotransferase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Beta-aminoisobutyric aciduria [HPO term]
See also inter- (CISMeF)
- 3-Aminoisobutyric Acid [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-Aminoisobutyric acid, urinary excretion of [MeSH Supplementary Concept]
- Beta-Aminoisobutyric acid, urinary excretion of [MeSH concept]
- Beta-aminoisobutyric aciduria [HPO term]
- Beta-aminoisobutyric aciduria (disorder) [SNOMED CT concept]

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