Scatter Plot from Scientific Research

Phenotypic similarities between patients, as encoded according to their HPO terms, were visualized with UMAP. As reference, all OMIM diseases were included using their HPO annotations (gray background dots). For each patient, color coding indicates allocation to disease groups, in accordance with the leading clinical feature. An overlap is evident for patients in the neurodevelopmental and neuromuscular groups (aquamarine and blue clusters), which indicates high phenotypic similarity. This precludes the unequivocal assignment of these patients to a diagnostic group. The triangles indicate patients who contributed to the identification of a novel, high-evidence gene phenotype association.

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