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aromatase deficiency

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.
Uniprot Description A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.
Mondo Term and Equivalent IDs
MONDO:0013301:  aromatase deficiency
GARD:0000365: 
MESH:C537436: 
NCIT:C120144: 
Orphanet:91: 
UMLS:C1960539: