| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| 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) |
| External Link | https://www.disgenet.org/browser/0/1/0/C1960539 |
| Similar Terms | |
| Downloads & Tools |
6 genes associated with the disease Aromatase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| BRD2 | bromodomain containing 2 |
| CYP19A1 | cytochrome P450, family 19, subfamily A, polypeptide 1 |
| CYP2B6 | cytochrome P450, family 2, subfamily B, polypeptide 6 |
| ESR1 | estrogen receptor 1 |
| MAP3K1 | mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase |
| SHOX | short stature homeobox |
