About: congenital disorder of glycosylation Iq

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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://b50941196 nodeID://b50941197 nodeID://b50941198 nodeID://b50941199 nodeID://b50941200 nodeID://b50941201 nodeID://b50941202 nodeID://b50941203 nodeID://b50941204 nodeID://b50941205 nodeID://b50941206
label	congenital disorder of glycosylation Iq
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080568
database_cross_reference	GARD:12397 OMIM:612379 ORDO:324737
has_exact_synonym	congenital disorder of glycosylation 1q (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941207

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