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Mondo Disease Ontology
Last uploaded:
December 3, 2024
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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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database_cross_reference |
DOID:0060388
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definition |
A chromosomal disorder consisting of the absence of a part of a chromosome.
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has_exact_synonym |
microdeletion syndrome
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has_related_synonym |
chromosomal deletion syndrome
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id |
MONDO:0000761
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar |
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label |
syndrome caused by partial chromosomal deletion
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notation |
MONDO:0000761
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prefLabel |
syndrome caused by partial chromosomal deletion
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skos_exactMatch | ||
treeView | ||
subClassOf |
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Mapping To | Ontology | Source |
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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 | DOVES | SAME_URI |
http://purl.obolibrary.org/obo/MONDO_0000761 | KTAO | SAME_URI |
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 | DOVES | LOOM |
http://purl.obolibrary.org/obo/MONDO_0000761 | KTAO | LOOM |