About: congenital disorder of glycosylation Iy

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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 X-linked recessive disease nodeID://b50941225 nodeID://b50941226 nodeID://b50941227
label	congenital disorder of glycosylation Iy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080574
database_cross_reference	GARD:12405 OMIM:300934 ORDO:370927
has_exact_synonym	congenital disorder of glycosylation 1y (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50941228

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