GTP cyclohydrolase 1

Preferred Label : GTP cyclohydrolase 1;

Approved symbol HGNC : GCH1;

Name synonyms HGNC : dopa-responsive dystonia; GTP cyclohydrolase I;

Alias symbols HGNC : GTPCH1; DYT5a;

Chromosome HGNC : 14q22.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000131979;

Details

Origin ID

HGNC:4193;

UMLS CUI

C1415012;

Automatic exact mappings (from CISMeF team)
- Dopa-Responsive Dystonia [NCIt concept]
- Dopa-responsive dystonia [MedDRA Preferred Term]
- Dopa-responsive dystonia [ORDO Disease]
- Dystonia, Dopa-responsive [MeSH concept]
- GTP cyclohydrolase 1 [ORDO Gene]
- Gtp cyclohydrolase I [OMIM gene]
- dystonia, dopa-responsive [MeSH Supplementary Concept]
NCIt concept
- GCH1 Gene [NCIt concept]
OMIM gene
- Gtp cyclohydrolase I [OMIM gene]
Orphanet gene
- GTP cyclohydrolase 1 [ORDO Gene]
See also inter- (CISMeF)
- Dopa-responsive dystonia [ICD-11 More detail]
- Dystonia, dopa-responsive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GCH1 Gene [NCIt concept]
- GCH1 gene [LOINC component]
- Gtp cyclohydrolase I [OMIM gene]

Keyword's position in hierarchy(ies) :

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