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acroosteolysis dominant type

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome 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.
Uniprot Description A rare, autosomal dominant skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes.
Mondo Term and Equivalent IDs
MONDO:0007057:  acroosteolysis dominant type
GARD:0000508: 
MESH:C535663: 
MESH:C537586: 
NCIT:C84745: 
Orphanet:955: 
SCTID:63122002: 
UMLS:C0917715: 
UMLS:C2930971: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)