loading...| Preferred Name |
Genetic Disorder |
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| Synonyms |
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| 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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| ID |
http://purl.obolibrary.org/obo/NCIT_C3101 |
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| code |
C3101 |
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| Contributing_Source |
CTRP NICHD PCDC |
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| 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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| Display_Name |
Genetic Disorder |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C186341 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C118168 |
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| label |
Genetic Disorder |
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| Legacy Concept Name |
Genetic_Disorder |
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| Preferred_Name |
Genetic Disorder |
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| prefixIRI |
NCIT:C3101 |
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| prefLabel |
Genetic Disorder |
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| Semantic_Type |
Disease or Syndrome Congenital Abnormality |
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| UMLS_CUI |
C0019247 |
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| subClassOf |