OBO ID: DOID:0080045
Term Name: Kniest dysplasia Search Ontology:
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
is a type of:
OTHER Kniest dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 Kniest dysplasia 156550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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