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. Author manuscript; available in PMC: 2023 Jan 4.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2022 Jul 24;190(2):231–242. doi: 10.1002/ajmg.c.31989

Figure 1. Example attributes of the HPO Disease annotation model (HPOA).

Figure 1.

Panel A: Schematic representation of our model of a rare disease. Associated with the diseases are a variety of features. Panel B: This schematic represents one HPO annotation for the disease Dyserythropoietic anemia, congenital, type IV. Published phenotypes include Anemia with Infantile onset REF; all five of the patients with the disease presented this way (shown as f=5/5). An annotation to a treatment (Intrauterine fetal transfusion coded by a MAxO term) is shown; the treatment treats Anemia, as well as Nonimmune hydrops fetalis, a less frequent phenotypic manifestation of the disease.