tafazzin, phospholipid-lysophospholipid transacylase

Preferred Label : tafazzin, phospholipid-lysophospholipid transacylase;

Approved symbol HGNC : TAFAZZIN;

Name synonyms HGNC : Barth syndrome;

Alias symbols HGNC : BTHS; TAZ1; G4.5;

Chromosome HGNC : Xq28;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000102125;

Details

Origin ID

HGNC:11577;

UMLS CUI

C1336578;

Automatic exact mappings (from CISMeF team)
- 3-Methylglutaconic aciduria type 2 (disorder) [SNOMED CT concept]
- Barth Syndrome [NCIt concept]
- Barth syndrome [OMIM Phenotype]
- Barth syndrome [DO Concept]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [ICD-11 More detail]
- Barth syndrome [MedDRA Preferred Term]
- Barth syndrome [ORDO Disease]
- WW Domain-Containing Transcription Regulator Protein 1 [NCIt concept]
- Ww domain-containing transcription regulator 1 [OMIM gene]
- barth syndrome [MeSH concept]
- barth syndrome [MeSH Descriptor]
- tafazzin, phospholipid-lysophospholipid transacylase [ORDO Gene]
Currated CISMeF NLP mapping
- TAFAZZIN Gene [NCIt concept]
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]
NCIt concept
- TAFAZZIN Gene [NCIt concept]
OMIM gene
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]
Orphanet gene
- tafazzin, phospholipid-lysophospholipid transacylase [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- TAFAZZIN Gene [NCIt concept]
- Tafazzin, phospholipid-lysophospholipid transacylase [OMIM gene]

Keyword's position in hierarchy(ies) :

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