Search Ontology:
Human Disease

axial spondylometaphyseal dysplasia

Term ID
DOID:0112299
Synonyms
  • SMD axial
  • SMDAX
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. (2)
References
Ontology
Human Disease   ( DOID:0112299 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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