Hypoxanthine guanine phosphoribosyltransferase 1

Preferred Label : Hypoxanthine guanine phosphoribosyltransferase 1;

Symbol : HPRT1;

CISMeF acronym : HPRT1;

Type : Gene;

Alternative titles and symbols : HPRT; HGPRT;

Ensembl ID : ENSG00000165704;

Prefixed ID : *308000;

Details

Origin ID

308000;

UMLS CUI

C1415701;

Automatic exact mappings (from CISMeF team)
- Eukaryotic Translation Initiation Factor 3 Subunit B [NCIt concept]
- HPRT1 Gene [NCIt concept]
- HPRT1 gene [LOINC component]
- HPRT1 wt Allele [NCIt concept]
- Hypoxanthine-Guanine Phosphoribosyltransferase [NCIt concept]
- hypoxanthine phosphoribosyltransferase [MeSH Descriptor]
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]
- hypoxanthine phosphoribosyltransferase activity [GO term]
HGNC gene
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]
NCIt concept(s)
- HPRT1 Gene [NCIt concept]
- HPRT1 wt Allele [NCIt concept]
- Hypoxanthine-Guanine Phosphoribosyltransferase [NCIt concept]
ORDO concept(s)
- hypoxanthine phosphoribosyltransferase 1 [ORDO Gene]
Phenotypes related
- Hyperuricemia, hprt-related [OMIM Phenotype]
- Lesch-nyhan syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HPRT1 Gene [NCIt concept]
- HPRT1 gene [LOINC component]
- hypoxanthine phosphoribosyltransferase 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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