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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Rothmund-Thomson Syndrome | |
| Synonyms |
Rothmund-Thomson Syndrome Rothmund-Thompson Syndrome Rothmund-Thomson syndrome Rothmund Thomson Syndrome RTS |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3335 |
|
| ALT_DEFINITION |
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).
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|
| code |
C3335
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
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| Contributing_Source |
Cellosaurus CCPS PCDC
|
|
| 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.
|
|
| FULL_SYN |
Rothmund-Thomson Syndrome Rothmund-Thompson Syndrome Rothmund-Thomson syndrome Rothmund Thomson Syndrome RTS
|
|
| label |
Rothmund-Thomson Syndrome
|
|
| Legacy Concept Name |
Rothmund-Thomson_Syndrome
|
|
| Preferred_Name |
Rothmund-Thomson Syndrome
|
|
| prefixIRI |
Thesaurus:C3335
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|
| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome
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|
| UMLS_CUI |
C0032339
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|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156032 |
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