OBO ID: DOID:0050812 |
Term Name: | spondyloepimetaphyseal dysplasia, Pakistani type | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0050812 ) |
OTHER spondyloepimetaphyseal dysplasia, Pakistani type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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