| Metadata | |
|---|---|
| ID | DOID:0080045 |
| Name | Kniest dysplasia |
| 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. http://ghr.nlm.nih.gov/condition/kniest-dysplasia, http://www.ksginfo.org/kniest.html |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has phenotype some Malar flattening has phenotype some Severe short stature has phenotype some Disproportionate short-trunk short stature |