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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | Rothmund-Thomson syndrome | |
| Synonyms |
Congenital poikiloderma RTS |
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| Definitions |
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_2732 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:205572001 UMLS_CUI:C0032339 MESH:D011038 ICD10CM:Q82.8 GARD:4392 MIM:268400 NCI:C3335
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|
| definition |
A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
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| has exact match |
MESH:D011038
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|
| has exact synonym |
Congenital poikiloderma RTS
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|
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:2732
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| in_subset | ||
| label |
Rothmund-Thomson syndrome
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|
| notation |
DOID:2732
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|
| prefLabel |
Rothmund-Thomson syndrome
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| subClassOf |
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