axial spondylometaphyseal dysplasia Disease Ontology Browser

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Disease Ontology Browser

axial spondylometaphyseal dysplasia (DOID:0112299)
Alliance: disease page
Synonyms: SMD axial; SMDAX
Alt IDs: OMIM:602271, MESH:C535795, ORDO:168549, UMLS_CUI:C1865695
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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