X-Linked Adrenal Hypoplasia Congenita
Disease ID: disease_node_14163
Connections displayed (default: 10).
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| Dbxref | GARD:555, MIM:300200 |
|---|---|
| Subclassof | DOID_0080012, DOID_10493 |
| Data Source | DOID |
| Synonyms | congenital adrenal hypoplasia |
| Doid Label | X-linked adrenal hypoplasia congenita |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_14163 |
| Doid Id | DOID_0080156 |
| Label | X-Linked Adrenal Hypoplasia Congenita |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Adrenal Cortical Hypofunction(ID:disease_node_14162) (Disease)