DISEASES

Disease-gene associations mined from literature

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Human genes for spondyloepiphyseal dysplasia with congenital joint dislocations

Spondyloepiphyseal dysplasia with congenital joint dislocations [DOID:0050813]

A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.

Synonyms:  spondyloepiphyseal dysplasia with congenital joint dislocations,  DOID:0050813,  spondyloepiphyseal dysplasia with congenital joint dislocationses,  CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS,  CHST3-Related Skeletal Dysplasia ...

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.