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Human Disease
spondyloepimetaphyseal dysplasia, Pakistani type
- Term ID
- DOID:0050812
- Synonyms
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- spondyloepimetaphyseal dysplasia Pakistani type
- 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)
- References
- Ontology
- Human Disease ( DOID:0050812 )
- is a type of
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