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

• GARD:6841
• MESH:C537207
• OMIM:156550

Ontology

Human Disease   ( DOID:0080045 )