Disease association ontology term - MONDO:0013800 - Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Term summary
- ID
- MONDO:0013800
- Name
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- Ontology or CV name
- Disease association
- Definition
- A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
