has material basis in germline mutation in CFAP410 axial spondylometaphyseal dysplasia https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia https://www.malacards.org/card/spondylometaphyseal_dysplasia_axial SmD, axial Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion. GARD:0008720 DOID:0112299 spondylometaphyseal dysplasia axial type UMLS:C1865695 SMDAX axial SmD Orphanet:168549 spondylometaphyseal dysplasia, axial MONDO:0011211 MEDGEN:356065 SmD axial icd11.foundation:834893572 OMIM:602271 MESH:C535795 spondylometaphyseal dysplasia short rib dysplasia