POC1B and achromatopsia: For patient P4 (achromatopsia; POC1B; rank 9), one of the two patient’s HPO profile terms, i.e., “Achromatopsia” (HP:0011516), was deemed to be moderately similar (0.587) with the phenotypic annotation “Abnormality of color vision” (HP:0000551) in OMIM:615973 (Cone-rod dystrophy 20; POC1B); the other patient’s HPO profile term, i.e., “Abnormal light-adapted electroretinogram” (HP:0008275), did not match any HPO term in OMIM:615973.