About: Tuberous Sclerosis     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Tuberous Sclerosis
equivalentClass
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Tuberous Sclerosis
UMLS_CUI
  • C0041341
Contributing_Source
  • NICHD
ALT_DEFINITION
  • A genetic disorder in which benign (not cancer) tumors form in the kidneys, brain, eyes, heart, lungs, and skin. This disease can cause seizures, mental disabilities, and different types of skin lesions.NCI-GLOSS
Legacy_Concept_Name
  • Tuberous_Sclerosis
FULL_SYN
  • TSCABNCI
  • tuberous sclerosisPTNCI-GLOSSCDR0000304692
  • Tuberous Sclerosis ComplexSYNCI
  • Tuberous SclerosisPTNCI
  • Tuberous Sclerosis SyndromePTNICHD
  • Bourneville's DiseaseSYNCI
DEFINITION
  • Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.NCI
code
  • C3424
is rdf:first of
is someValuesFrom of
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