Disease association ontology term - MONDO:0010966 - achondrogenesis type IB
Term summary
- ID
- MONDO:0010966
- Name
- achondrogenesis type IB
- Ontology or CV name
- Disease association
- Definition
- Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
