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DO Term : spondyloepimetaphyseal dysplasia, Pakistani type [DOID:0050812] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C567551,
  • 612847,
  • OMIM:612847,
  • spondyloepimetaphyseal dysplasia Pakistani type
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Ontology

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Ontology Term --> Direct parents