Parent Terms |
Term With Siblings |
Child Terms |
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connective tissue disease +
digestive system disease +
disease related to transplantation +
disorder of development or morphogenesis +
disorder of visual system +
endocrine system disease +
genetic disorder + A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be). 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.
integumentary system disease +
musculoskeletal system disease +
otorhinolaryngologic disease +
post-infectious disorder +
premature aging syndrome +
radiation-induced disorder +
reproductive system disease +
respiratory system disease +
sudden infant death syndrome +
upper digestive tract disorder +
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Synonyms |
Exact Synonyms: |
DOID:630
;
NCIT:C3101
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hereditary disease
;
hereditary disease or disorder
;
hereditary diseases
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http://identifiers.org/medgen/5527
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http://identifiers.org/mesh/D030342
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http://identifiers.org/snomedct/32895009
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http://linkedlifedata.com/resource/umls/id/C0019247
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inherited disease
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Narrow Synonyms: |
Mendelian disease
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Broad Synonyms: |
genetic condition
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genetic disease
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Related Synonyms: |
familial disorder
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inborn disorder
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Xrefs: |
DOID:630
;
ICD9:799.89
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MEDGEN:5527
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MESH:D030342
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MONDO:0003847
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NCI:C3101
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SCTID:32895009
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UMLS:C0019247
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External Ontologys: |
in_taxon EFO:NCBITaxon:9606 |
Definition Sources: |
https://orcid.org/0000-0002-6601-2165 |
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