National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17103

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

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991

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