Citrullinemia Type II

Preferred Label : Citrullinemia Type II;

NCIt synonyms : CTLN2;

NCIt definition : An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the SLC25A13 gene, encoding calcium-binding mitochondrial carrier protein Aralar2.;

Details

Origin ID

C150603;

UMLS CUI

C1863844;

Automatic exact mappings (from CISMeF team)
- solute carrier family 25 member 13 [HGNC gene]
Currated CISMeF NLP mapping
- Adult-onset citrullinemia type 2 [MeSH concept]
- Citrullinaemia type 2 [ICD-11 More detail]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- Citrullinemia, type II, adult-onset [OMIM Phenotype]
- adult onset citrullinemia type 2 [Disease (Nov.)]
- adult-onset citrullinemia type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adult-onset citrullinemia type 2 [MeSH concept]
- Citrullinaemia type 2 [ICD-11 More detail]
- Citrullinaemia type II [MedDRA LLT]
- Citrullinemia type II [ORDO Disease]
- Citrullinemia type II [MedDRA LLT]
- Citrullinemia type II (disorder) [SNOMED CT concept]
- Citrullinemia, type II, adult-onset [OMIM Phenotype]
- adult onset citrullinemia type 2 [Disease (Nov.)]
- adult-onset citrullinemia type 2 [MeSH Supplementary Concept]
associated_with_malfunction_of_gene_product
- Electrogenic Aspartate/Glutamate Antiporter SLC25A13, Mitochondrial [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_gene
- SLC25A13 Gene [NCIt concept]
- SLC25A13 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ASS1 Gene [NCIt concept]
- SLC25A13 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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