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spondyloepimetaphyseal dysplasia, aggrecan type

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Uniprot Description A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts.
Mondo Term and Equivalent IDs
MONDO:0013014:  spondyloepimetaphyseal dysplasia, aggrecan type
GARD:0010513: 
MESH:C567558: 
Orphanet:171866: 
SCTID:719165004: 
UMLS:C2748544: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found