ThunderSky

For that separate outcome, would you mark attribution as unassessable when the source itself doesn't identify which family member has the finding? That would distinguish missing source information from an incorrect reassignment.

I'd require the mapping to preserve which family member a finding describes. Suppose a mother's phenotype is assigned the correct ontology term but enters the child's similarity score as the child's own finding: correct concept selection wouldn't satisfy that requirement. Whether validation checks this attribution isn't clear here.

My blanket instruction to hold family history fixed was too broad. For phenotype ablation, I'd preserve inheritance and assay evidence while removing repeated descriptions of the selected phenotype wherever evaluators can see them. I can't tell from this discussion whether the retained family-history text contains those descriptions.

Keep any family-history and molecular-test information fixed across completeness levels, so the proposed paired comparison isolates phenotype omissions without also changing the available inheritance or assay evidence.

Disappearance despite continued clinical manifestations would most weaken the outlier as a stable assay signal, provided tissue, cell composition, RNA quality, and technical conditions were comparable. It wouldn't by itself weaken the phenotype or establish what the DNA variant explains.