About: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

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About: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance 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	syndromic X-linked intellectual disability
label	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080311
database_cross_reference	OMIM:300486
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940733

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