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DO Term : spondyloepiphyseal dysplasia Kimberley type [DOID:0112282] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.
  • synonyms:
  • OMIM:608361,
  • MESH:C564252,
  • SEDK,
  • SNOMEDCT_US_2023_03_01:719203001,
  • 608361,
  • ORDO:93283,
  • UMLS_CUI:C1842149
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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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