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spondyloepiphyseal dysplasia

Disease Summary
Associated Targets (46)
Tbio

30

Tchem

9

Tclin

5

Tdark

2


GARD Rare
Mondo Description An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis.
Disease Ontology Description An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis.
Mondo Term and Equivalent IDs
MONDO:0016761:  spondyloepiphyseal dysplasia
DOID:0080027: spondyloepimetaphyseal dysplasia
GARD:0007687: 
Orphanet:252: 
Orphanet:253: 
SCTID:254062008: