Terminology Service for NFDI4Health

Genetic Disorder

Go to external page http://purl.obolibrary.org/obo/NCIT_C3101


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. [ ]

Term info

Label

Genetic Disorder

Synonyms
  • Genetic Condition
  • Genetic Disorder
  • Hereditary Disease
  • Hereditary Diseases
  • Inherited Disease
  • Molecular Disease
Subsets

NCIT_C99147, NCIT_C90259, NCIT_C118168, NCIT_C116977

Contributing Source

CTRP, NICHD

Display Name

Genetic Disorder

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C2991

Legacy Concept Name

Genetic_Disorder

NICHD Hierarchy Term

Genetic Disorder

Preferred Name

Genetic Disorder

Semantic Type

Disease or Syndrome, Congenital Abnormality

UMLS CUI

C0019247

code

C3101

Term relations

Subclass of: