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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  
 Adrenocortical Hypofunction, Chronic Primary Congenital 
 adrenocorticotropic hormone deficiency  
 advanced sleep phase syndrome 3  
 age related macular degeneration 8  
 Alpha-2-Deficient Collagen Disease 
 Aquaporin 1 Deficiency  
 ataxic cerebral palsy 
 atrial heart septal defect 3  
 atrial heart septal defect 4  
 autoimmune lymphoproliferative syndrome +   
 BOCKENHEIMER SYNDROME  
 brachydactyly type A1B 
 brachydactyly type A1C  
 brachydactyly type A1D  
 brachydactyly type B1  
 brachydactyly type B2  
 brachydactyly type E1  
 brachydactyly type E2  
 CADASIL +   
 CAKUT2  
 cataract 25 
 cataract 26 multiple types 
 cataract 27  
 cataract 28 
 Cenani-Lenz syndactyly syndrome  
 chromosomal disease +   
 complex cortical dysplasia with other brain malformations 1  
 complex cortical dysplasia with other brain malformations 2  
 complex cortical dysplasia with other brain malformations 3  
 complex cortical dysplasia with other brain malformations 4  
 complex cortical dysplasia with other brain malformations 5  
 complex cortical dysplasia with other brain malformations 6  
 Congenital Hepatic Fibrosis  
 Congenital Pain Insensitivity +   
 desquamative interstitial pneumonia  
 Dwarfism +   
 Familial Cirrhosis +   
 Familial Dysalbuminemic Hyperthyroxinemia  
 Familial Hemophagocytic Lymphohistiocytoses +   
 familial hypertrophic cardiomyopathy +   
 Familial Lipochrome Histiocytosis 
 Familial Mixed Cryoglobulinemia  
 Familial Temporal Epilepsy +   
 frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
 frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
 Genetic Skin Diseases +   
 Hereditary Bilateral Parotidomegaly 
 Hereditary Epistaxis 
 Hereditary Eye Diseases +   
 hereditary lymphedema +   
 Hereditary Neoplastic Syndromes +   
 inherited metabolic disorder +   
 Isolated Prolactin Deficiency 
 Kallmann syndrome +   
 Laminopathies +   
 Marfan syndrome +   
 monogenic disease +   
 Nervous System Heredodegenerative Disorders +   
 Nonimmune Chronic Idiopathic Neutropenia, Adult  
 osteochondrodysplasia +   
 polygenic disease +   
 primary hypertrophic osteoarthropathy +   
 progressive familial intrahepatic cholestasis +   
 Sacral Agenesis with Vertebral Anomalies  
 yellow nail syndrome +  

Synonyms
Exact Synonyms: Genetic Disorder ;   Genetic Disorders ;   HEREDITARY DISORDER ;   Hereditary Disease ;   Hereditary Diseases ;   Inborn Genetic Disease ;   genetic diseases ;   hereditary genetic disorder ;   inborn genetic diseases
Narrow Synonyms: single gene defects ;   single-gene defect
Primary IDs: MESH:D030342
Xrefs: EFO:0000508 ;   EFO:0004904 ;   NCI:C3101
Definition Sources: http://ghr.nlm.nih.gov/ "DO" "DO"

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