loading...| Preferred Name | Congenital chromosomal disease | |
| Synonyms |
CHROMOSOME DIS Chromosomal Disorders Chromosomal disease or syndrome CHROMOSOME ABNORM DIS CHROMOSOMAL DIS Chromosome Abnormality Disorders Chromosome Abnormalities Conditions due to anomaly of chromosome Cytogenetic Aberrations Chromosomal hereditary disorder Chromosomal disease, Chromosomal abnormality syndrome Chromosomal abnormality Chromosomal disorder Chromosomal imbalance syndrome Chromosomal anomalies Chromosome Aberrations Chromosome Disorders Anomaly of chromosome abnormal; chromosome Congenital disorder due to abnormality of chromosome number OR structure Chromosomal Aberrations Chromosomal Diseases and Syndromes Chromosomopathy Cytogenetic Abnormalities |
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| 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) (source : MSH) |
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| ID |
http://doe-generated-ontology.com/OntoAD#C0008626 |
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| altLabel |
CHROMOSOME DIS Chromosomal Disorders Chromosomal disease or syndrome CHROMOSOME ABNORM DIS CHROMOSOMAL DIS Chromosome Abnormality Disorders Chromosome Abnormalities Conditions due to anomaly of chromosome Cytogenetic Aberrations Chromosomal hereditary disorder Chromosomal disease, Chromosomal abnormality syndrome Chromosomal abnormality Chromosomal disorder Chromosomal imbalance syndrome Chromosomal anomalies Chromosome Aberrations Chromosome Disorders Anomaly of chromosome abnormal; chromosome Congenital disorder due to abnormality of chromosome number OR structure Chromosomal Aberrations Chromosomal Diseases and Syndromes Chromosomopathy Cytogenetic Abnormalities |
|
| 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) (source : MSH) |
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| has_severity | ||
| hiddenLabel |
CongenitalChromosomalDisease |
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| prefixIRI |
OntoAD:C0008626 |
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| prefLabel |
Congenital chromosomal disease |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_1086 | CLO | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/74345006 | SNOMEDCT | LOOM |