FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term axial spondylometaphyseal dysplasia ID (Ontology) DOID:0112299 (Human Disease)
Definition A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3.
Also Known As "SMD axial" ; "SMDAX"
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 Genes
 axial spondylometaphyseal dysplasia       2
 for disease ribbon | axial spondylometaphyseal dysplasia       2
 model of | axial spondylometaphyseal dysplasia       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
osteochondrodysplasia              |
 |__spondylometaphyseal dysplasia__|
                                   axial spondylometaphyseal dysplasia  2 rec.
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Is a autosomal recessive disease
spondylometaphyseal dysplasia
Part of
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Synonyms
  • "SMD axial" EXACT
    "SMDAX" EXACT OMO:0003012
Secondary IDs
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GARD:8720
MESH:C535795
MIM:602271
ORDO:168549
SNOMEDCT_US_2023_03_01:771301002
UMLS_CUI:C1865695