loading...| Preferred Name |
Genetic Disorder |
| 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#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 |
| Contributing_Source |
NICHD CTRP GDC 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 |
Genetic Disorder Hereditary Diseases Hereditary Disease Genetic Condition Genetic Syndrome Inherited Disease Molecular Disease |
| 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 |
| prefLabel |
Genetic Disorder |
| Semantic_Type |
Disease or Syndrome Congenital Abnormality |
| UMLS_CUI |
C0019247 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/OGMS_0000047 | Ontology for General Medical Science / 通用医学科学本体 | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_0000508 | Experimental Factor Ontology / 实验性因素本体 | LOOM |