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

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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_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	congenital central hypoventilation syndrome
annotatedTarget	An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/11840487 url:https://www.ncbi.nlm.nih.gov/pubmed/12640453 url:https://www.ncbi.nlm.nih.gov/pubmed/8135282 url:https://www.ncbi.nlm.nih.gov/pubmed/8696331
is topic of	Human Disease Ontology

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