Rubinstein-Taybi Syndrome
Disease ID: disease_node_6709
Connections displayed (default: 10).
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| Dbxref | GARD:7593, ICD10CM:Q87.2, MESH:D012415, MIM:180849, MIM:610543, MIM:613684, NCI:C75466, ORDO:783, SNOMEDCT_US_2023_03_01:157032007, UMLS_CUI:C0035934 |
|---|---|
| Subclassof | DOID_0050736, DOID_225, DOID_0060388 |
| Data Source | DOID, MESH |
| Synonyms | Broad Thumb-Hallux syndrome, Rubinstein syndrome, proximal chromosome 16p13.3 deletion syndrome |
| Disease Has Location | UBERON_0001463, UBERON_0003631 |
| Mesh Id | D012415 |
| Mesh Label | Rubinstein-Taybi Syndrome |
| Mesh Subclassof | D004413, D019465, D008607, D025063, D000015 |
| Doid Label | Rubinstein-Taybi syndrome |
| Doid Description | A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_6709 |
| Doid Id | DOID_1933 |
| Label | Rubinstein-Taybi Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)