loading...| Preferred Name | Hajdu-Cheney syndrome | |
| Synonyms |
arthrodentoosteodysplasia SFPKS acroosteolysis with osteoporosis and changes in skull and mandible Cheney syndrome HJCYS serpentine fibula-polycystic kidney syndrome |
|
| Definitions |
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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_2736 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
arthrodentoosteodysplasia SFPKS acroosteolysis with osteoporosis and changes in skull and mandible Cheney syndrome HJCYS serpentine fibula-polycystic kidney syndrome |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:63122002 OMIM:102500 MESH:D030981 UMLS_CUI:C0917715 MESH:D031845 UMLS_CUI:C0917990 GARD:508 NCI:C35545 NCI:C84745 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
arthrodentoosteodysplasia SFPKS acroosteolysis with osteoporosis and changes in skull and mandible Cheney syndrome HJCYS serpentine fibula-polycystic kidney syndrome |
|
| has material basis in | ||
| has_alternative_id |
DOID:2735 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:2736 |
|
| in_subset | ||
| label |
Hajdu-Cheney syndrome |
|
| notation |
DOID:2736 |
|
| note |
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]. |
|
| preferred label |
Hajdu-Cheney syndrome |
|
| prefLabel |
Hajdu-Cheney syndrome |
|
| subClassOf |