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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Rare disorders have many faces: in silico characterization of rare disorder spectrum

Fig. 5

Human Phenotype Ontology (HPO) terms and co-occurrence profiles for the rare disorder spectrum. A The Venn diagrams illustrate similarities and differences in HPO terms across the disorder categories. As the number of rare disorders (RDs) categorized to a specific disorder category increase with decreasing prevalence, we expected to find more HPO terms for the ultra-rare disorder category. Therefore, we provided a Venn diagram for the top 50 HPO terms, in addition to the one representing all HPO terms. For the top 50 HPO terms, the disorder categories had 8 HPO terms in common, namely seizures, short stature, hearing impairment, scoliosis, cleft palate, global developmental delay, intellectual disability and muscular hypotonia. The rare disorder category shared a similar number of HPO terms with both the borderline-common and ultra-rare disorder category, yet these HPO terms did not overlap between the latter disorder categories. Focusing on all HPO terms, more HPO terms overlapped between the rare and ultra-rare disorder category compared with the borderline-common and ultra-rare disorder category. As differences between disorder categories appeared (e.g., multiple HPO terms unique to the disorder category), we further dissected the top findings (presented in Table 3). B Co-occurrence of the top 15 HPO terms within the RD spectrum (as shown in Table 3) with other HPO terms selected based on high relative co-occurrence. The HPO terms co-occurred in 3 to 239 RDs depending on the combination. C Co-occurrence of the top 15 HPO terms within the borderline-common disorder category (as represented in Table 3) with selected HPO terms based on high relative co-occurrence. Here, we decided to exclude the top 15 HPO terms, hearing impairment, seizures, short stature, and scoliosis, as they were also represented in Fig. 3B. Notably less co-occurrence between HPO terms was observed within this group (ranged from 1 to 60 RDs). Larger representations of this figure can be found in Additional File 1: Fig. S2-S3

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