Table 1.

Phenopackets Used for Evaluating the Performance of LIRICAL

Total case reports	384
Diseases
Median # cases per disease	1
Maximum # cases per disease	19
Autosomal-recessive diseases	203
Autosomal-dominant diseases	128
X chromosomal diseases	10
Multiple modes of inheritance	43
Total	262
Disease genes
Total	259
HPO terms
Total over all cases	1687
Mean # HPO terms per case	11.1 (median 9)
Mean # negated HPO terms per case	2.71 (median 0)

384 phenopackets each describing a single published case report were derived from the literature by manual biocuration. See Table S2 for details. Multiple modes of inheritance means that more than one mode has been described for the disease in question, e.g., inherited cataract associated with variants in PITX3 can be inherited in an autosomal-dominant or autosomal-recessive fashion. The phenopacket schema represents an open standard for sharing machine-readable phenotypic descriptions in the context of rare disease, common disease, or cancer (see Web Resources).