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. 2020 May 1;23(5):101123. doi: 10.1016/j.isci.2020.101123

Figure 2.

Figure 2

Quantitative Descriptors of Rare Genetic Disorders Curated by OMIM and Annotated by HPO

We used the HPO annotated descriptors for all curated genetic disorders to assess global descriptors of disease.

(A) Describes all diseases and associated genes according to Mode of inheritance HP:0000005.

(B) Presents the distribution of diseases according to the age group in which disease manifestations appear: Onset HP:0003674.

(C) Diseases were classified according to annotated clinical phenotypes.

(D) Graph presents the distribution of disease according to the organ/tissue/system affected. Phenotypic abnormality HP:0000118.

(E–H) Venn diagrams present overlaps between different HPO terms listed in A–D. All bold numbers indicate overlaps of diseases with HPO terms associated to childhood converging on nervous system and behavioral HPO terms. (E and F) present data for recessive disorders. (G and H) depict data for dominant disorders. (A-D) Y axis represent % of curated OMIM diseases and Y1 axis shows the number of genes associated to the HPO terms (red symbols).