About: Lesch-Nyhan Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : http://linked.opendata.cz/ontology/ndfrt/DiseaseOrFinding, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
sameAs
Title
  • Lesch-Nyhan Syndrome (en)
skos:broader
skos:prefLabel
  • Lesch-Nyhan Syndrome (en)
adms:identifier
http://linked.open...gy/ndfrt/UMLS_CUI
  • C0023374
skos:altLabel
  • Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease (en)
  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency (en)
  • Complete HGPRT Deficiency Disease (en)
  • Deficiency Disease, Complete HGPRT (en)
  • HGPRT Deficiency Disease, Complete (en)
  • Lesch-Nyhan Disease (en)
  • Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase (en)
  • Choreoathetosis Self-Mutilation Hyperuricemia Syndrome (en)
  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome (en)
  • Choreoathetosis Self-Mutilation Syndrome (en)
  • Complete HPRT Deficiency (en)
  • Deficiency of Guanine Phosphoribosyltransferase (en)
  • HGPRT Deficiency (en)
  • Hypoxanthine Phosphoribosyltransferase Deficiency (en)
  • Juvenile Hyperuricemia Syndrome (en)
  • Primary Hyperuricemia Syndrome (en)
  • Total HPRT Deficiency (en)
  • X-Linked Hyperuricemia (en)
  • X-Linked Primary Hyperuricemia (en)
  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency (en)
  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency (en)
  • Deficiency of Hypoxanthine Phosphoribosyltransferase (en)
  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency (en)
http://linked.open.../ndfrt/SNOMED_CID
  • 10406007
  • 124275001
  • 267451005
http://linked.open...gy/ndfrt/MeSH_DUI
  • D007926
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