retinohepatoendocrinologic syndrome https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome https://www.malacards.org/card/retinohepatoendocrinologic_syndrome UMLS:C1849399 retinohepatoendocrinologic syndrome Orphanet:3087 MEDGEN:340315 GARD:0004685 MONDO:0009985 Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. SCTID:724000006 MESH:C564839 OMIM:268040 polyendocrinopathy