DISEASES

Disease-gene associations mined from literature

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Human genes for spondyloepimetaphyseal dysplasia, Strudwick type

Spondyloepimetaphyseal dysplasia, Strudwick type [DOID:0080028]

A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

Synonyms:  spondyloepimetaphyseal dysplasia, Strudwick type,  DOID:0080028,  spondyloepimetaphyseal dysplasia Strudwick type,  Strudwick type spondyloepimetaphyseal dysplasia,  Strudwick type spondyloepimetaphyseal dysplasias

Linkouts:  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.