Send us a Message



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

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:genetic disease
go back to main search page
Accession:DOID:630 term browser browse the term
Definition:A disease that has_material_basis_in genetic variations in the human genome. (DO)
Synonyms:exact_synonym: 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_id: MESH:D030342
 xref: NCI:C3101
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 


Your selection has 8686 annotated objects. The maximum number of objects that can be shown is 2000. The list is too large to display.

  • Select a more specific term using the term browser
  • Download the entire list for this term
  • Display annotations for this term only (exclude descendants)



  • Term paths to the root
    Path 1
    Term Annotations click to browse term
      disease 17126
        Developmental Disease 10894
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
            genetic disease 8941
              Adrenocortical Hypofunction, Chronic Primary Congenital 0
              Alagille syndrome 5
              Alpha-2-Deficient Collagen Disease 0
              Aquaporin 1 Deficiency 0
              CADASIL + 2
              CAKUT2 4
              CHARGE syndrome 11
              Cenani-Lenz syndactyly syndrome 1
              Congenital Hepatic Fibrosis 3
              Congenital Pain Insensitivity + 10
              Dwarfism + 497
              Familial Cirrhosis + 2
              Familial Dysalbuminemic Hyperthyroxinemia 1
              Familial Hemophagocytic Lymphohistiocytoses + 42
              Familial Lipochrome Histiocytosis 0
              Familial Mixed Cryoglobulinemia 1
              Familial Temporal Epilepsy + 268
              Genetic Skin Diseases + 1041
              Hereditary Bilateral Parotidomegaly 0
              Hereditary Epistaxis 0
              Hereditary Eye Diseases + 631
              Hereditary Neoplastic Syndromes + 912
              Isolated Prolactin Deficiency 0
              Kallmann syndrome + 10
              Laminopathies + 46
              Lennox-Gastaut syndrome 8
              Marfan syndrome + 210
              Nervous System Heredodegenerative Disorders + 2104
              Nonimmune Chronic Idiopathic Neutropenia, Adult 2
              Sacral Agenesis with Vertebral Anomalies 1
              adrenocorticotropic hormone deficiency 2
              advanced sleep phase syndrome 3 1
              age related macular degeneration 8 0
              ataxic cerebral palsy 0
              atrial heart septal defect 3 1
              atrial heart septal defect 4 1
              autoimmune lymphoproliferative syndrome + 21
              brachydactyly type A1B 0
              brachydactyly type A1C 1
              brachydactyly type A1D 1
              brachydactyly type B1 1
              brachydactyly type B2 1
              brachydactyly type E1 1
              brachydactyly type E2 1
              cataract 23 1
              cataract 25 0
              cataract 26 multiple types 0
              cataract 27 2
              cataract 28 0
              chromosomal disease + 1904
              complex cortical dysplasia with other brain malformations 1 2
              complex cortical dysplasia with other brain malformations 2 1
              complex cortical dysplasia with other brain malformations 3 1
              complex cortical dysplasia with other brain malformations 4 1
              complex cortical dysplasia with other brain malformations 5 1
              complex cortical dysplasia with other brain malformations 6 1
              desquamative interstitial pneumonia 1
              familial hypertrophic cardiomyopathy + 90
              frontotemporal dementia and/or amyotrophic lateral sclerosis-3 1
              frontotemporal dementia and/or amyotrophic lateral sclerosis-4 2
              hereditary lymphedema + 8
              hypogonadotropic hypogonadism 5 with or without anosmia + 1
              inherited metabolic disorder + 2606
              monogenic disease + 7120
              osteochondrodysplasia + 474
              polygenic disease + 18
              primary hypertrophic osteoarthropathy + 2
              progressive familial intrahepatic cholestasis + 6
              yellow nail syndrome + 0
    paths to the root