Search Ontology:
Human Disease

spondyloepiphyseal dysplasia Kimberley type

Term ID
DOID:0112282
Synonyms
  • SEDK
Definition
A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. (2)
References
Ontology
Human Disease   ( DOID:0112282 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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