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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Rothmund-Thomson Syndrome | |
| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3335 |
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| 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
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| Contributing_Source |
Cellosaurus CCPS PCDC
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| 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.
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C179491 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C177281 |
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| label |
Rothmund-Thomson Syndrome
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| Legacy Concept Name |
Rothmund-Thomson_Syndrome
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| Preferred_Name |
Rothmund-Thomson Syndrome
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| prefixIRI |
NCIT:C3335
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| prefLabel |
Rothmund-Thomson Syndrome
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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://purl.obolibrary.org/obo/NCIT_C156032 |
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