Search Ontology:
Human Disease

Kniest dysplasia

Term ID
DOID:0080045
Synonyms
Definition
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (2)
References
Ontology
Human Disease   ( DOID:0080045 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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