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

• GARD:8720
• MESH:C535795
• MIM:602271
• ORDO:168549
• SNOMEDCT_US_2023_03_01:771301002
• UMLS_CUI:C1865695

Ontology

Human Disease   ( DOID:0112299 )