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Kniest dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).
Uniprot Description Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0007987:  Kniest dysplasia
GARD:0006841: 
MESH:C537207: 
NCIT:C125594: 
Orphanet:485: 
SCTID:53974002: 
UMLS:C0265279: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)