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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Congenital Abnormalities +   
Fetal Diseases +   
genetic disease +   
A disease that has_material_basis_in genetic variations in the human genome. (DO)
Hemorrhagic Shock and Encephalopathy Syndrome 
Infant, Newborn, Diseases +   
Sandestig-Stefanova Syndrome  
 CADASIL +   
 CAKUT2  
 Dwarfism +   
 Laminopathies +   
 Marfan syndrome +   

Synonyms
Exact Synonyms: Genetic Diseases, Inborn ;   Genetic Disorder ;   Genetic Disorders ;   HEREDITARY DISORDER ;   Hereditary Disease ;   Hereditary Diseases ;   Inborn Genetic Disease ;   Single-Gene Defect ;   genetic diseases ;   single gene defects
Primary IDs: MESH:D030342
Xrefs: NCI:C3101
Definition Sources: http://ghr.nlm.nih.gov/ "DO" "DO"

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