X-linked adrenal hypoplasia congenita

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Summary

Literature (0)

DOID:0080156 - X-linked adrenal hypoplasia congenita

Disease Ontology 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.

Synonyms: congenital adrenal hypoplasia

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:300200 - adrenal hypoplasia, congenital; ahc

MIM:300200 - adrenal hypoplasia, congenital; ahc

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): adrenal cortical hypofunction (is_a), X-linked recessive disease (is_a)