OBO ID: DOID:0112282
Term Name: spondyloepiphyseal dysplasia Kimberley type Search Ontology:
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
is a type of:
OTHER spondyloepiphyseal dysplasia Kimberley type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type 608361
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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