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achondrogenesis type IA

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
Uniprot Description A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Mondo Term and Equivalent IDs
MONDO:0008701:  achondrogenesis type IA
GARD:0000459: 
MESH:C536015: 
Orphanet:93299: 
SCTID:42725006: