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
  • MESH:C564252
  • MIM:608361
  • ORDO:93283
  • SNOMEDCT_US_2023_03_01:719203001
  • UMLS_CUI:C1842149
Ontology
Human Disease   ( DOID:0112282 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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