loading...| Preferred Name |
Congenital chromosomal disease |
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| Synonyms |
CHROMOSOME DIS 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 ANOMALIE CHROMOSOMIQUE CHROMOSOME ABNORM DIS CHROMOSOMAL DIS Chromosome Abnormality Disorders Chromosome Abnormalities Maladies par aberrations chromosomiques Anormalité des chromosomes Conditions due to anomaly of chromosome Cytogenetic Aberrations Troubles chromosomiques Chromosomal hereditary disorder Chromosomal disease, Anomalie chromosomique, sans précision Chromosomal abnormality syndrome chromosomopathie Affection due à une anomalie chromosomique Chromosomal abnormality Chromosomal disorder Chromosomal imbalance syndrome Trouble chromosomique Chromosomal anomalies Chromosome Aberrations maladie héréditaire chromosomique maladie par aberration chromosomique Chromosome Disorders Anomaly of chromosome aberration chromosomique abnormal; chromosome syndrome d'anomalie du nombre des chromosomes Congenital disorder due to abnormality of chromosome number OR structure Chromosomal Aberrations Anomalie cytogénétique ANOMALIES CHROMOSOMIQUES 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 MaladiesChromosomiques |
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| prefixIRI |
OntoAD:C0008626 |
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| prefLabel |
Congenital chromosomal disease Maladies chromosomiques |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_1086 | CLO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_1086 | CLO | LOOM | |
| http://purl.bioontology.org/ontology/SNOMEDCT/74345006 | SNOMEDCT | LOOM |