Dicarboxylic aminoaciduria

Preferred Label : Dicarboxylic aminoaciduria;

Symbol : DCBXA;

CISMeF acronym : DCBXA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glutamate-aspartate transport defect;

Inheritance : Autosomal recessive;

Prefixed ID : #222730;

Details

Origin ID

222730;

UMLS CUI

C1857253;

Currated CISMeF NLP mapping
- Dicarboxylic aminoaciduria [ICD-11 More detail]
- Dicarboxylic aminoaciduria [ORDO Disease]
- Dicarboxylic aminoaciduria syndrome (disorder) [SNOMED CT concept]
- Dicarboxylicaminoaciduria [MeSH concept]
- dicarboxylic aminoaciduria [DO Concept]
- dicarboxylicaminoaciduria [MeSH Supplementary Concept]
DO Cross reference
- dicarboxylic aminoaciduria [DO Concept]
Genes related to phenotype
- Solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter), member 1 [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Aspartic aciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fasting hypoglycemia [HPO term]
- Intellectual disability [HPO term]
- Nephrolithiasis [HPO term]
ORDO concept(s)
- Dicarboxylic aminoaciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dicarboxylic aminoaciduria [ORDO Disease]
- Dicarboxylic aminoaciduria [ICD-11 More detail]
- Dicarboxylic aminoaciduria syndrome (disorder) [SNOMED CT concept]
- Dicarboxylicaminoaciduria [MeSH concept]
- dicarboxylic aminoaciduria [DO Concept]
- dicarboxylicaminoaciduria [MeSH Supplementary Concept]

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