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atelosteogenesis type III

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
Uniprot Description A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death.
Mondo Term and Equivalent IDs
MONDO:0007168:  atelosteogenesis type III
GARD:0010608: 
MESH:C579928: 
Orphanet:56305: 
SCTID:725142004: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found