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atelosteogenesis type I

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.
Uniprot Description A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue.
Mondo Term and Equivalent IDs
MONDO:0007167:  atelosteogenesis type I
GARD:0009287: 
MESH:C535396: 
Orphanet:1190: 
SCTID:725141006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found