About: NFIA-related disorder

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An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease chromosomal deletion syndrome syndrome nodeID://b50938794 nodeID://b50938799
label	NFIA-related disorder
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060409
created_by	elvira
creation_date	2015-09-28T17:12:14Z
database_cross_reference	ICD10CM:Q93.5 OMIM:613735 ORDO:401986
has_exact_synonym	1p31p32 microdeletion syndrome (en) chromosome 1p32-p31 deletion syndrome brain malformations with or without urinary tract defects
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938800

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