About: X-linked adrenal hypoplasia congenita

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About: X-linked adrenal hypoplasia congenita Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	X-linked recessive disease adrenal cortical hypofunction nodeID://b50940504
label	X-linked adrenal hypoplasia congenita (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080156
database_cross_reference	GARD:555 OMIM:300200
has_exact_synonym	congenital adrenal hypoplasia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940505

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