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spondylometaphyseal dysplasia, Sedaghatian type

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Uniprot Description A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities.
Mondo Term and Equivalent IDs
MONDO:0009593:  spondylometaphyseal dysplasia, Sedaghatian type
GARD:0004993: 
MESH:C535798: 
Orphanet:93317: 
UMLS:C1855229: