FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked spondyloepimetaphyseal dysplasia ID (Ontology) DOID:0112150 (Human Disease)
Definition A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.
Also Known As "SEMD X-linked" ; "SEMDX"
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DO.org
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Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease________
spinal disease                        |
 |__spondyloepimetaphyseal dysplasia__|
osteochondrodysplasia                 |
 |__spondyloepimetaphyseal dysplasia__|
                                      X-linked spondyloepimetaphyseal dysplasia
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Is a X-linked recessive disease
spondyloepimetaphyseal dysplasia
Part of
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Synonyms
  • "SEMD X-linked" EXACT
    "SEMDX" EXACT OMO:0003012
Secondary IDs
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GARD:4979
MESH:C564714
MIM:300106
NCI:C188996
ORDO:93349
SNOMEDCT_US_2023_03_01:770603000
UMLS_CUI:C1848097