OBO ID: DOID:0112150
Term Name: X-linked spondyloepimetaphyseal dysplasia Search Ontology:
Synonyms:
  • SEMD X-linked
  • SEMDX
Definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. (2)
References:
Ontology: Human Disease   ( DOID:0112150 )
Relationships
is a type of:
OTHER X-linked spondyloepimetaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BGN Spondyloepimetaphyseal dysplasia, X-linked 300106
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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