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DO Term : X-linked adrenal hypoplasia congenita [DOID:0080156] Disease Ontology
Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • congenital adrenal hypoplasia,
  • GARD:555,
  • 300200,
  • OMIM:300200
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Disease

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