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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Contiguous gene syndrome
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Accession:HP:0001466 term browser browse the term
Definition:A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes
Comment:Examples of contiguous gene synmdromes include Prader-Willi syndrome, Angelman syndrome, and Williams syndrome.
Synonyms:xref: UMLS:C1855496


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  Human phenotype 0
    Mode of inheritance 0
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        Contiguous gene syndrome 0
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