About: syndromic X-linked intellectual disability Nascimento type

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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	syndromic X-linked intellectual disability
label	syndromic X-linked intellectual disability Nascimento type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060820
database_cross_reference	ICD10CM:Q87.8 OMIM:300860 ORDO:163956
has_exact_synonym	mental retardation, X-linked syndromic, Nascimento-type (en) X-linked intellectual disability-nail dystrophy-seizures syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939453

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