A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa v...
Comprehensive, easy-to-understand information about this condition
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Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.