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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)
