DISEASES

Disease-gene associations mined from literature

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Human genes for spondyloepimetaphyseal dysplasia, Pakistani type

Spondyloepimetaphyseal dysplasia, Pakistani type [DOID:0050812]

A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

Synonyms:  spondyloepimetaphyseal dysplasia, Pakistani type,  DOID:0050812,  Pakistani type spondyloepimetaphyseal dysplasia,  spondyloepimetaphyseal dysplasia Pakistani type,  Pakistani 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.