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diastrophic dysplasia

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).
Uniprot Description An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities.
Disease Ontology Description An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
Mondo Term and Equivalent IDs
MONDO:0009107:  diastrophic dysplasia
GARD:0006275: 
ICD10:Q77.5: 
MESH:C536170: 
Orphanet:628: 
SCTID:58561002: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)