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spondyloperipheral dysplasia-short ulna syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.
Uniprot Description SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.
Mondo Term and Equivalent IDs
MONDO:0010078:  spondyloperipheral dysplasia-short ulna syndrome
GARD:0004994: 
MESH:C535799: 
NCIT:C135088: 
Orphanet:1856: 
SCTID:702339001: 
UMLS:C0796173: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found