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Disease Ontology Browser
spondyloepimetaphyseal dysplasia, Pakistani type (DOID:0050812)
Alliance: disease page
Synonyms: spondyloepimetaphyseal dysplasia Pakistani type
Alt IDs: OMIM:612847, MESH:C567551
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)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory