Rothmund-Thomson Syndrome
Disease ID: disease_node_6205
Connections displayed (default: 10).
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| Dbxref | GARD:4392, ICD10CM:Q82.8, MESH:D011038, MIM:268400, NCI:C3335, SNOMEDCT_US_2023_03_01:205572001, UMLS_CUI:C0032339 |
|---|---|
| Subclassof | DOID_37 |
| Data Source | DOID, MESH |
| Synonyms | Congenital poikiloderma, RTS |
| Mesh Id | D011038 |
| Mesh Label | Rothmund-Thomson Syndrome |
| Mesh Subclassof | D049914, D012868, D012873, D007232 |
| Doid Label | Rothmund-Thomson syndrome |
| Doid Description | 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]. |
| Disease Node Id | disease_node_6205 |
| Doid Id | DOID_2732 |
| Label | Rothmund-Thomson Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases(ID:disease_node_6968) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Skin Diseases, Genetic(ID:disease_node_6970) (Disease)