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DO Term : spondyloepiphyseal dysplasia congenita [DOID:14789] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.
  • synonyms:
  • 183900,
  • DOID:0080025,
  • GARD:4987,
  • MESH:C535788,
  • OMIM:183900,
  • Late Spondyloepiphyseal Dysplasia
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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