has material basis in germline mutation in NOTCH2 autosomal dominant disease disappearing bone disease rheumatic disorder acroosteolysis acroosteolysis dominant type https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6332 https://github.com/monarch-initiative/mondo/issues/8914 https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type https://www.malacards.org/card/hajdu_cheney_syndrome MESH:C535663 UMLS:C0917715 MONDO:0007057 OMIM:102500 MEDGEN:182961 GARD:0000508 Hajdu-Cheney syndrome NORD:1214 A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present. acrodentoosteodysplasia acroosteolysis with osteoporosis and changes in skull and mandible Hajdu Cheney Syndrome MESH:C537586 serpentine fibula-polycystic kidney syndrome Hajdu-Cheney syndrome-NOTCH2 Orphanet:955 NCIT:C84745 serpentine fibula polycystic kidney syndrome HJCYS Arthrodentoosteodysplasia ICD9:756.59 Cheney syndrome serpentine fibula-polycystic kidneys syndrome SCTID:63122002 DOID:2736 MESH:C531695 hereditary disorder of connective tissue