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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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Preferred Name | syndrome caused by partial chromosomal deletion | |
Synonyms |
chromosomal deletion syndrome microdeletion syndrome |
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Definitions |
A chromosomal disorder consisting of the absence of a part of a chromosome. Editor note: this is used in DOID to encompass typically partial deletions |
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ID |
http://purl.obolibrary.org/obo/MONDO_0000761 |
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comment |
Editor note: this is used in DOID to encompass typically partial deletions
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altLabel |
chromosomal deletion syndrome microdeletion syndrome
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definition |
A chromosomal disorder consisting of the absence of a part of a chromosome. Editor note: this is used in DOID to encompass typically partial deletions
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has_exact_synonym |
microdeletion syndrome
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has_related_synonym |
chromosomal deletion syndrome
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label |
syndrome caused by partial chromosomal deletion
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prefixIRI |
MONDO:0000761
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prefLabel |
syndrome caused by partial chromosomal deletion
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textual definition |
A chromosomal disorder consisting of the absence of a part of a chromosome.
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subClassOf |
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Mapping To | Ontology | Source |
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http://purl.obolibrary.org/obo/MONDO_0000761 | MONDO | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0000761 | CCONT | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0000761 | EFO | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0000761 | KTAO | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0000761 | MONDO | LOOM |
http://purl.obolibrary.org/obo/MONDO_0000761 | CCONT | LOOM |
http://purl.obolibrary.org/obo/MONDO_0000761 | EFO | LOOM |
http://purl.obolibrary.org/obo/MONDO_0000761 | KTAO | LOOM |