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DO Term : multiple epiphyseal dysplasia 3 [DOID:0070304] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
  • synonyms:
  • OMIM:600969,
  • multiple epiphyseal dysplasia 3 with or without myopathy,
  • EDM3,
  • 600969
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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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