hypoxanthine phosphoribosyltransferase 1

Preferred Label : hypoxanthine phosphoribosyltransferase 1;

Approved symbol HGNC : HPRT1;

Name synonyms HGNC : Lesch-Nyhan syndrome; hypoxanthine guanine phosphoribosyl transferase;

Alias symbols HGNC : HGPRT;

Chromosome HGNC : Xq26.2-q26.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000165704;

Details

Origin ID

HGNC:5157;

UMLS CUI

C1415701;

Automatic exact mappings (from CISMeF team)
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
- Hypoxanthine-Guanine Phosphoribosyltransferase [NCIt concept]
- Lesch-Nyhan Syndrome [NCIt concept]
- Lesch-Nyhan syndrome [ICD-11 Sub-sub category]
- Lesch-Nyhan syndrome [ICD-10 Sub-category]
- Lesch-Nyhan syndrome [DO Concept]
- Lesch-Nyhan syndrome [PASCAL descriptor]
- Lesch-Nyhan syndrome [MedDRA LLT]
- Lesch-Nyhan syndrome [ORDO Disease]
- Lesch-Nyhan syndrome [MeSH concept]
- Lesch-Nyhan syndrome [MeSH Descriptor]
- Lesch-Nyhan syndrome (disorder) [SNOMED CT concept]
- Lesch-nyhan syndrome [OMIM Phenotype]
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
- lesch-nyhan syndrome [SNOMED Notion]
NCIt concept
- HPRT1 Gene [NCIt concept]
OMIM gene
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]
Orphanet gene
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HPRT1 Gene [NCIt concept]
- HPRT1 gene [LOINC component]
- Hypoxanthine guanine phosphoribosyltransferase 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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