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Disease Ontology Browser
spondyloepimetaphyseal dysplasia, Pakistani type (DOID:0050812)
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Synonyms: spondyloepimetaphyseal dysplasia Pakistani type
Alt IDs: OMIM:612847
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.

Disease References using Mouse Models (1)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory