Search Ontology:
Human Disease

X-linked spondyloepimetaphyseal dysplasia

Term ID
DOID:0112150
Synonyms
  • SEMD X-linked
  • SEMDX
Definition
A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. (2)
References
  • GARD:4979
  • MESH:C564714
  • MIM:300106
  • NCI:C188996
  • ORDO:93349
  • SNOMEDCT_US_2023_03_01:770603000
  • UMLS_CUI:C1848097
Ontology
Human Disease   ( DOID:0112150 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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