|OBO ID: DOID:0050812|
|Term Name:||spondyloepimetaphyseal dysplasia, Pakistani type||Search Ontology:|
|Definition:||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. (2)|
|Ontology:||Human Disease (DOID:0050812)|
|is a type of:||
OTHER spondyloepimetaphyseal dysplasia, Pakistani type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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