About: Rothmund-Thomson Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Rothmund-Thomson Syndrome
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Rothmund-Thomson Syndrome
UMLS_CUI
  • C0032339
ALT_DEFINITION
  • An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, and teeth, and hypogonadism.MSH2003_2003_05_12
  • A rare inherited disorder that affects the skin and many other parts of the body, including the bones, eyes, nose, hair, nails, teeth, testes, and ovaries. People with Rothmund-Thomson syndrome have an increased risk of osteosarcoma (bone cancer).NCI-GLOSS
Legacy_Concept_Name
  • Rothmund-Thomson_Syndrome
FULL_SYN
  • RTSPTNCI-GLOSSCDR0000662025
  • Rothmund-Thomson syndromePTNCI-GLOSSCDR0000662024
  • Rothmund-Thomson SyndromePTNCI
  • RTSABNCI
DEFINITION
  • An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.NCI
code
  • C3335
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