preferred_name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
preferred_name_lc: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
label: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN
label_lc: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; mfhien