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Term ID: | 5524 |
Name: | Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D002659|MESH:D008607|MESH:D011686|MESH:D033461 |
TreeNumbers: | C10.597.606.643/C565489 |C16.320.565.798/C565489 |C18.452.648.798/C565489 |C23.550.449/C565489 |C23.888.592.604.646/C565489 |F03.550.325/C565489 |F03.550.600/C565489 |
Synonyms: | |
Slim Mappings: | Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Pathology (process)|Signs and symptoms |
Reference: |
MedGen: C565489
MeSH: C565489
OMIM: 240000;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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