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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

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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