WormBase Tree Display for DO_term: DOID:2736
expand all nodes | collapse all nodes | view schema
| DOID:2736 | Name | Hajdu-Cheney syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Alternate_id | DOID:2735 | ||||
| Definition | 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Cheney syndrome | |||
| HJCYS | |||||
| SFPKS | |||||
| acroosteolysis with osteoporosis and changes in skull and mandible | |||||
| arthrodentoosteodysplasia | |||||
| serpentine fibula-polycystic kidney syndrome | |||||
| Parent | Is_a | DOID:0080001 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 102500 | |
| Attribute_of | Gene_by_orthology | WBGene00001609 |
