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achondrogenesis type II

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Uniprot Description An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.
Mondo Term and Equivalent IDs
MONDO:0008702:  achondrogenesis type II
GARD:0008713: 
MESH:C536017: 
Orphanet:93296: