Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inborn error of metabolism |
| gptkbp:affects |
purine metabolism
|
| gptkbp:characterizedBy |
gout
kidney stones neurological dysfunction self-mutilating behavior hyperuricemia |
| gptkbp:deficiencyCauses |
gptkb:hypoxanthine-guanine_phosphoribosyltransferase
|
| gptkbp:firstDescribed |
gptkb:Michael_Lesch
gptkb:William_Nyhan 1964 |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Lesch-Nyhan disease
|
| gptkbp:ICD-10_code |
E79.1
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:HPRT1_gene
|
| gptkbp:namedAfter |
gptkb:Michael_Lesch
gptkb:William_Nyhan |
| gptkbp:OMIM |
300322
|
| gptkbp:symptom |
intellectual disability
spasticity chorea |
| gptkbp:treatment |
allopurinol
|
| gptkbp:bfsParent |
gptkb:Nyhan_syndrome
|
| gptkbp:bfsLayer |
7
|