Barth Syndrome

Preferred Label : Barth Syndrome;

NCIt synonyms : 3-Methylglutaconic Aciduria Type 2;

NCIt definition : A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.;

Details

Origin ID

C84585;

UMLS CUI

C0574083;

Automatic exact mappings (from CISMeF team)
- tafazzin, phospholipid-lysophospholipid transacylase [ORDO Gene]
- tafazzin, phospholipid-lysophospholipid transacylase [HGNC gene]
Currated CISMeF NLP mapping
- 3 methylglutaconic aciduria type II [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 2 (disorder) [SNOMED CT concept]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [DO Concept]
- Barth syndrome [ICD-11 More detail]
- Barth syndrome [MedDRA Preferred Term]
- Barth syndrome [OMIM Phenotype]
- Barth syndrome [ORDO Disease]
- barth syndrome [MeSH Descriptor]
- barth syndrome [MeSH concept]
DO Cross reference
- Barth syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 methylglutaconic aciduria type II [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 2 (disorder) [SNOMED CT concept]
- Barth syndrome [ORDO Disease]
- Barth syndrome [OMIM Phenotype]
- Barth syndrome [PASCAL descriptor]
- Barth syndrome [DO Concept]
- Barth syndrome [ICD-11 More detail]
- Barth syndrome [MedDRA Preferred Term]
- barth syndrome [MeSH concept]
- barth syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- TAFAZZIN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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