Disease association ontology term - MONDO:0016002 - Ehlers-Danlos syndrome, kyphoscoliotic type 1
Term summary
- ID
- MONDO:0016002
- Name
- Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Ontology or CV name
- Disease association
- Definition
- A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.
