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pseudoachondroplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.
Uniprot Description A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.
Disease Ontology Description An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
Mondo Term and Equivalent IDs
MONDO:0008322:  pseudoachondroplasia
GARD:0004540: 
MESH:C535819: 
NCIT:C118635: 
Orphanet:750: 
SCTID:22567005: 
UMLS:C0410538: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)