has material basis in germline mutation in ESR1 syndromic disease hereditary disease reproductive system disorder endocrine system disorder estrogen resistance syndrome https://github.com/monarch-initiative/mondo/issues/6753 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/estrogen_resistance Orphanet:785 oestrogen insensitivity Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. ESTRR icd11.foundation:1267163286 UMLS:C3809250 oestrogen resistance SCTID:724555000 GARD:0016548 MONDO:0014148 estrogen resistance OMIM:615363 MEDGEN:815580