has material basis in germline mutation in BCO1 hereditary hypercarotenemia and vitamin A deficiency https://github.com/monarch-initiative/mondo/issues/6750 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/hereditary_hypercarotenemia_and_vitamin_a_deficiency https://www.malacards.org/card/hypercarotenemia_and_vitamin_a_deficiency_autosomal_dominant SCTID:726079008 HCVAD Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. MESH:C567296 MEDGEN:393944 GARD:0017090 UMLS:C2676023 Orphanet:199285 MONDO:0007272 OMIM:115300 disorder of vitamin and non-protein cofactor absorption and transport