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About: Kniest dysplasia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Kniest dysplasia
described by
id
  • DOID:0080045
database_cross_reference
  • GARD:6841
  • MESH:C537207
  • OMIM:156550
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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