hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase

Preferred Label : hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase;

Origin ID

C565489;

UMLS CUI

C1855884;

Currated CISMeF NLP mapping
- Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [OMIM Phenotype]
MeSH term(s) associated for indexing
- child development disorders, pervasive [MeSH Descriptor]
- hyperuricemia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- purine-pyrimidine metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase [OMIM Phenotype]