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| Term | X-linked adrenal hypoplasia congenita | ID (Ontology) | DOID:0080156 (Human Disease) |
| 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. | ||
| Also Known As | "congenital adrenal hypoplasia" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease_____ adrenal cortex disease | |__adrenal cortical hypofunction__| X-linked adrenal hypoplasia congenita |
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| Is a |
X-linked recessive disease adrenal cortical hypofunction |
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External Crossreferences & Linkouts
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GARD:555 MIM:300200 |
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