Disease_Mapped_To_Gene
Spondyloperipheral Dysplasia
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.
C0796173
C135088
Cellosaurus
Disease or Syndrome
Spondyloperipheral Dysplasia
Spondyloperipheral Dysplasia
Cellosaurus Disease Terminology
Cellosaurus Terminology
Rare Non-Neoplastic Disorder
COL2A1 Gene