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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
|
|---|---|
| Preferred Name | Genetic Disorder |
| Definitions |
Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.
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| Synonyms |
Hereditary Disease
Hereditary Diseases
Molecular Disease
Genetic Disorder
Genetic Condition
Inherited Disease
Genetic Syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Genetic Disorder
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|---|---|
| Maps_To |
Inherited Genetic Syndrome, NOS
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| Legacy Concept Name |
Genetic_Disorder
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| Is_Value_For_GDC_Property | |
| Preferred_Name |
Genetic Disorder
|
| Display_Name |
Genetic Disorder
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| Semantic_Type |
Disease or Syndrome
Congenital Abnormality
|
| prefixIRI |
Thesaurus:C3101
|
| DEFINITION |
Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders.
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| UMLS_CUI |
C0019247
|
| code |
C3101
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| subClassOf | |
| type | |
| FULL_SYN |
Hereditary Disease
Hereditary Diseases
Molecular Disease
Genetic Disorder
Genetic Condition
Inherited Disease
Genetic Syndrome
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|
| Contributing_Source |
CTRP
GDC
NICHD
PCDC
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| Concept_In_Subset |
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|
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