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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Id | http://purl.obolibrary.org/obo/MONDO_0019040
http://purl.obolibrary.org/obo/MONDO_0019040
|
|---|---|
| Preferred Name | chromosomal disorder |
| Definitions |
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
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| Synonyms |
chromosome abnormality disorders
chromosome disorders, autosomal
disorder, chromosome abnormality
chromosome disorder, autosomal
chromosome abnormality disorder
autosomal chromosome disorder
autosomal chromosome disorders
disorders, chromosome
chromosomal disorder
chromosome disorder
disorders, chromosomal
disorder, chromosomal
disorder, chromosome
chromosomal disease
chromosomal disorders
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) |
|---|---|
| altLabel |
chromosome abnormality disorders
chromosome disorders, autosomal
disorder, chromosome abnormality
chromosome disorder, autosomal
chromosome abnormality disorder
autosomal chromosome disorder
autosomal chromosome disorders
disorders, chromosome
chromosomal disorder
chromosome disorder
disorders, chromosomal
disorder, chromosomal
disorder, chromosome
chromosomal disease
chromosomal disorders
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|
| label |
chromosomal disorder
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| prefLabel |
chromosomal disorder
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| has_related_synonym |
chromosome abnormality disorders
chromosome disorders, autosomal
disorder, chromosome abnormality
chromosome disorder, autosomal
chromosome abnormality disorder
autosomal chromosome disorder
autosomal chromosome disorders
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|
| prefixIRI |
MONDO:0019040
|
| textual definition |
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
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| subClassOf | |
| type | |
| has_exact_synonym |
disorders, chromosome
chromosomal disorder
chromosome disorder
disorders, chromosomal
disorder, chromosomal
disorder, chromosome
chromosomal disease
chromosomal disorders
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|
| has characteristic |
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