About: nodeID://b50938925

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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	Pitt-Hopkins syndrome
annotatedTarget	A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/17436255 url:https://www.ncbi.nlm.nih.gov/pubmed/26621827 url:https://www.ncbi.nlm.nih.gov/pubmed/728011 url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome
is topic of	Human Disease Ontology

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