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Summary Literature (0)
DOID:0112299 - axial spondylometaphyseal dysplasia

Disease Ontology 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.

Synonyms: SMDAX, SMD axial

Xenbase Genes : cfap410


MIM:
MIM:602271 - SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL; SMDAX

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), spondylometaphyseal dysplasia (is_a)