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brachyolmia

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones.
Disease Ontology Description An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature.
Mondo Term and Equivalent IDs
MONDO:0015262:  brachyolmia
DOID:0050690: brachyolmia
GARD:0010903: 
MESH:C537098: 
Orphanet:1293: 
SCTID:254088006: 
UMLS:C0432228: