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Desbuquois dysplasia

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
Disease Ontology Description An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx.
Mondo Term and Equivalent IDs
MONDO:0015426:  Desbuquois dysplasia
GARD:0001818: 
NCIT:C124056: 
OMIMPS:251450: 
Orphanet:1425: 
SCTID:254099008: 
UMLS:C0432242: 
UMLS:CN239270: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)