About: congenital hereditary endothelial dystrophy of cornea

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

Attributes	Values
type	Class
subClassOf	autosomal recessive disease corneal endothelial dystrophy physical disorder nodeID://b50939158 nodeID://b50939159
label	congenital hereditary endothelial dystrophy of cornea
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060649
database_cross_reference	OMIM:217700
has_exact_synonym	CHED (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939160

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