Hajdu-Cheney Syndrome
Disease ID: disease_node_11081
Connections displayed (default: 10).
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| Dbxref | GARD:508, MESH:D030981, MESH:D031845, MIM:102500, NCI:C35545, NCI:C84745, SNOMEDCT_US_2023_03_01:63122002, UMLS_CUI:C0917715, UMLS_CUI:C0917990 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080001 |
| Data Source | DOID, MESH |
| Synonyms | Cheney syndrome, HJCYS, SFPKS, acroosteolysis with osteoporosis and changes in skull and mandible, arthrodentoosteodysplasia, serpentine fibula-polycystic kidney syndrome |
| Mesh Id | D031845 |
| Mesh Label | Hajdu-Cheney Syndrome |
| Mesh Subclassof | D030342, D009139, D030981 |
| Doid Label | Hajdu-Cheney syndrome |
| Doid Description | A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11081 |
| Doid Id | DOID_2736 |
| Label | Hajdu-Cheney Syndrome |
| Doid Alternate Ids | DOID_2735 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Bone Diseases(ID:disease_node_1637) (Disease)