OBO ID: DOID:0112299
Term Name: axial spondylometaphyseal dysplasia Search Ontology:
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 axial spondylometaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CFAP410 Spondylometaphyseal dysplasia, axial 602271
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.