Lesch-Nyhan syndrome, neurologic variant

Preferred Label : Lesch-Nyhan syndrome, neurologic variant;

MeSH note : mutation in HPRT;

MeSH synonym : HPRT deficiency, neurologic variant;

Détails

Origin ID

C564535;

UMLS CUI

C1845892;

Automatic exact mappings (from CISMeF team)
- Lesch-nyhan syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- Lesch-Nyhan syndrome [MeSH Descriptor]
Record concept(s)
- Lesch-Nyhan syndrome, neurologic variant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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