Hajdu-Cheney Syndrome
Disease Aliases (21) | Acroosteolysis with osteoporosis and changes in skull and mandible Arthrodentoosteodysplasia Acrodentoosteodysplasia Acroosteolysis dominant type Arthro-dento-osteo dysplasia Arthro-dento-ostéodysplasie Arthrodentoosteodysplasias Hjcys Hajdu cheney syndrome Hajdu-cheney syndrome; hjcys Multicentric osteolyses Multicentric osteolysis Osteolyses, multicentric Osteolysis, multicentric Serpentine fibula-polycystic kidney syndrome Sfpks Serpentine fibula syndrome Serpentine fibula-polycystic kidneys syndrome Serpentine fibula polycystic kidney syndrome |
Associated Genes (1) NCBI-RefSeq: NOTCH2 (Notch receptor 2) External Links: gnomAD browser Ensembl GeneCards
| |||||||
Cross-references of Hajdu-Cheney syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations |