|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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. (Orphanet Rare Disease Ontology, Orphanet_91)|
|Downloads & Tools|
1 genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|CYP19A1||cytochrome P450, family 19, subfamily A, polypeptide 1|