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X-linked spondyloepimetaphyseal dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description X-linked form of spondyloepimetaphyseal dysplasia.
Uniprot Description A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.
Mondo Term and Equivalent IDs
MONDO:0010248:  X-linked spondyloepimetaphyseal dysplasia
GARD:0004979: 
MESH:C564714: 
Orphanet:93349: 
UMLS:C1848097: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found