FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepimetaphyseal dysplasia, Sponastrime type ID (Ontology) DOID:5684 (Human Disease)
Definition A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance.
Also Known As "sponastrime dysplasia" ; "Spondylar and nasal Alterations-Striated Metaphyses syndrome"
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 Genes
 spondyloepimetaphyseal dysplasia, Sponastrime type       1
 for disease ribbon | spondyloepimetaphyseal dysplasia, Sponastrime type       1
 model of | spondyloepimetaphyseal dysplasia, Sponastrime type       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
spinal disease                        |
 |__spondyloepimetaphyseal dysplasia__|
osteochondrodysplasia                 |
 |__spondyloepimetaphyseal dysplasia__|
                                      spondyloepimetaphyseal dysplasia, Sponastrime type  1 rec.
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Is a autosomal recessive disease
spondyloepimetaphyseal dysplasia
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Synonyms
  • "sponastrime dysplasia" EXACT
    "Spondylar and nasal Alterations-Striated Metaphyses syndrome" EXACT
Secondary IDs
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MIM:271510
NCI:C92206
UMLS_CUI:C0920349