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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 3.

Figure 3.

Components of a Phenopacket. (A) The subject message provides basic demographic information; (B) The phenotypicFeatures message consists of a list of phenotypic features (each of which begins with “-type” in YAML format as shown here). The patient was found to have Increased fetal lens echogenicity (HP:0034248) at a gestational age of 27 weeks, at which time Microphthalmia (HP:0000568) was excluded. Postnatal examination at an age of 4 days (represented in iso8601 format as P4D) shows Axial hypotonia (HP:0008936), Low-set ears (HP:0000369), and Microphthalmia (HP:0000568). (C) The disease diagnosis is recorded using a term from the Mondo ontology [Shefchek et al., 2020], Warburg micro syndrome (MONDO:0016649). (D) The metaData message records versions of ontologies used to create the Phenopacket together with other information. Additionally, the Phenopacket schema provides resources to record measurements, biospecimens, and treatments, not shown here.