Disease-gene associations mined from literature

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