About: nodeID://b50940797

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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_0007636 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007646
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	Phelan-McDermid syndrome
annotatedTarget	A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
database_cross_reference	url:https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1198/ url:https://www.ncbi.nlm.nih.gov/pubmed/29719671 url:https://www.ncbi.nlm.nih.gov/pubmed/29896732 url:https://www.ncbi.nlm.nih.gov/pubmed/30089781 url:https://en.wikipedia.org/wiki/22q13_deletion_syndrome url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652
is topic of	Human Disease Ontology

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