| Metadata | |
|---|---|
| ID | DOID:2736 |
| Name | Hajdu-Cheney syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/21378989, https://www.ncbi.nlm.nih.gov/pubmed/21378985, https://www.ncbi.nlm.nih.gov/pubmed/9714016 |
| Xrefs |
SNOMEDCT_US_2023_03_01:63122002 |
| Alternateids |
DOID:2735 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
acroosteolysis with osteoporosis and changes in skull and mandible [EXACT] arthrodentoosteodysplasia [EXACT] Cheney syndrome [EXACT] HJCYS [EXACT] serpentine fibula-polycystic kidney syndrome [EXACT] SFPKS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a bone disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |