GenTIGSA Gene Database on Rare Genetic Disorders
Partial Hypoxanthine-guanine Phosphoribosyltransferase Deficiency  
Disease Aliases (15)

Gout, hprt-related

Gout, hprt1-related

Hprt deficiency, grade i

Hprt deficiency, partial

Hprt partial deficiency

Hprt-related gout

Hprt-related hyperuricemia

Hprt1 deficiency, partial

Hprt1 partial deficiency

Hyperuricemia, hrpt-related, x-linked recessive

Hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial

Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency

Hypoxanthine guanine phosphoribosyltransferase deficiency, grade i

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Kelley-seegmiller syndrome

Associated Genes (0)
 

Cross-references of Partial hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations