Preferred Name |
Genetic Disorder |
|
Synonyms |
Hereditary Disease Hereditary Diseases Molecular Disease Genetic Disorder Genetic Condition Inherited Disease Genetic Syndrome |
|
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101 |
|
code |
C3101 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186341 |
|
Contributing_Source |
CTRP GDC NICHD PCDC |
|
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. |
|
Display_Name |
Genetic Disorder |
|
FULL_SYN |
Hereditary Disease Hereditary Diseases Molecular Disease Genetic Disorder Genetic Condition Inherited Disease Genetic Syndrome |
|
Is_Value_For_GDC_Property | ||
label |
Genetic Disorder |
|
Legacy Concept Name |
Genetic_Disorder |
|
Maps_To |
Inherited Genetic Syndrome, NOS |
|
Preferred_Name |
Genetic Disorder |
|
prefixIRI |
Thesaurus:C3101 |
|
Semantic_Type |
Disease or Syndrome Congenital Abnormality |
|
UMLS_CUI |
C0019247 |
|
subClassOf |