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loading...| Preferred Name |
Lesch-Nyhan Syndrome, Neurologic Variant |
| Synonyms |
HPRT Deficiency, Neurologic Variant |
| ID |
http://purl.bioontology.org/ontology/MESH/C564535 |
| altLabel |
HPRT Deficiency, Neurologic Variant |
| cui |
C1845892 |
| HM |
D007926 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
1 |
| notation |
C564535 |
| prefLabel |
Lesch-Nyhan Syndrome, Neurologic Variant |
| SC |
3 |
| Scope Statement |
mutation in HPRT |
| TERMUI |
T829871 T805082 |
| TH |
OMIM (2013) |
| tui |
T047 |