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loading...| Preferred Name |
Kniest dysplasia |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0080045 |
| database_cross_reference |
MESH:C537207 GARD:6841 OMIM:156550 |
| 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. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0080045 |
| in_subset | |
| label |
Kniest dysplasia |
| notation |
DOID:0080045 |
| prefLabel |
Kniest dysplasia |
| subClassOf |
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