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X-linked adrenal hypoplasia congenita
Summary
- Synonym
-
- congenital adrenal hypoplasia
- Definition
- An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.
- Super Class
- X-linked recessive disease adrenal cortical hypofunction
External Links
- Disease Ontology
- DOID:0080156
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 1103 | CHAT | choline O-acetyltransferase | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 1584 | CYP11B1 | cytochrome P450 family 11 subfamily B member 1 | |
| 2710 | GK | glycerol kinase | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3556 | IL1RAP | interleukin 1 receptor accessory protein | |
| 11141 | IL1RAPL1 | interleukin 1 receptor accessory protein like 1 |
Related Glycoprotein
