About: congenital disorder of glycosylation Im

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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	congenital disorder of glycosylation type I autosomal recessive disease nodeID://b50941185 nodeID://b50941186
label	congenital disorder of glycosylation Im
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080565
database_cross_reference	GARD:12393 OMIM:610768 ORDO:91131
has_exact_synonym	DOLK-congenital disorder of glycosylation (en) congenital disorder of glycosylation 1m (en) dolichol kinase deficiency (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941187

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