loading...| Preferred Name |
Cytogenetic Abnormality |
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| Synonyms |
|
|
| Definitions |
An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C2950 |
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| code |
C2950 |
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| Contributing_Source |
CPTAC CTRP GDC NICHD |
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| definition |
An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. |
|
| Display_Name |
Cytogenetic Abnormality |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C158520 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C156952 http://purl.obolibrary.org/obo/NCIT_C156953 http://purl.obolibrary.org/obo/NCIT_C158035 http://purl.obolibrary.org/obo/NCIT_C158034 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C159339 http://purl.obolibrary.org/obo/NCIT_C157711 http://purl.obolibrary.org/obo/NCIT_C142800 |
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| Is_Value_For_GDC_Property | ||
| label |
Cytogenetic Abnormality |
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| Legacy Concept Name |
Chromosomal_Aberration |
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| Maps_To |
Structural Variation Structural Alteration |
|
| Preferred_Name |
Cytogenetic Abnormality |
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| prefixIRI |
NCIT:C2950 |
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| prefLabel |
Cytogenetic Abnormality |
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| Semantic_Type |
Cell or Molecular Dysfunction |
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| UMLS_CUI |
C0008625 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2950 | NCIT | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10067477 | MEDDRA | LOOM |