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DO Term : pseudoachondroplasia [DOID:0080047] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
  • synonyms:
  • OMIM:177170,
  • SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC,
  • 177170,
  • pseudoachondroplastic dysplasia,
  • GARD:4540,
  • DOID:14800,
  • MESH:C535819
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Disease

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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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