Disease association ontology term - MONDO:0008701 - achondrogenesis type IA
Term summary
- ID
- MONDO:0008701
- Name
- achondrogenesis type IA
- Ontology or CV name
- Disease association
- Definition
- 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.
