Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
disease +     
acute disease +   
animal disease +  
breast disease +   
cancer or benign tumor +   
cardiovascular disease +   
chromosomal disorder +  
chronic disease +   
complication +   
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.
head and neck disorder +   
hematologic disease +   
iatrogenic disease +  
idiopathic disease +   
immune system disease +   
infectious disease +   
inflammatory disease +   
integumentary system disease +   
metabolic disease +   
mitochondrial disease +  
musculoskeletal system disease +   
nervous system disease +   
obstetric disorder +   
occupational disorder +   
otorhinolaryngologic disease +   
perinatal disease +   
perineum disease 
poisoning +   
post-infectious disorder +   
premature aging syndrome +   
psychiatric disorder +   
radiation-induced disorder +   
reproductive system disease +   
respiratory system disease +   
soft tissue disease  
sudden infant death syndrome +  
syndromic disease +   
ulcer disease +   
upper digestive tract disorder +   
urinary system disease +   
urogenital neoplasm +   
 3MC syndrome +  
 azoospermia +   
 BAFopathy +  
 bronchiectasis +   
 cataract +   
 ciliopathy +   
 cornea plana +  
 enterocolitis +   
 Ewing sarcoma +   
 keratoconus +   
 laminopathy +  
 megalocornea +  
 orofacial cleft +   
 polydactyly +  
 preeclampsia +   
 progeria +  
 rasopathy +  
 serpinopathy +  
 spina bifida +  
 syndactyly +  
 tooth agenesis +   

Synonyms
Exact Synonyms: DOID:630 ;   NCIT:C3101 ;   hereditary disease ;   hereditary disease or disorder ;   hereditary diseases ;   http://identifiers.org/medgen/5527 ;   http://identifiers.org/mesh/D030342 ;   http://identifiers.org/snomedct/32895009 ;   http://linkedlifedata.com/resource/umls/id/C0019247 ;   inherited disease
Narrow Synonyms: Mendelian disease
Broad Synonyms: genetic condition ;   genetic disease
Related Synonyms: familial disorder ;   inborn disorder
Xrefs: DOID:630 ;   ICD9:799.89 ;   MEDGEN:5527 ;   MESH:D030342 ;   MONDO:0003847 ;   NCI:C3101 ;   SCTID:32895009 ;   UMLS:C0019247
External Ontologys: in_taxon EFO:NCBITaxon:9606
Definition Sources: https://orcid.org/0000-0002-6601-2165

paths to the root