Terminology Service for NFDI4Health

Lesch-Nyhan Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C61255


An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips). [ ]

Term info

Label

Lesch-Nyhan Syndrome

Synonyms
  • Lesch-Nyhan Syndrome
Legacy Concept Name

Lesch-Nyhan_Syndrome

Preferred Name

Lesch-Nyhan Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0023374

code

C61255