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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
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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 Disorder;   Genetic Disorders;   HEREDITARY DISORDER;   Hereditary Disease;   Hereditary Diseases;   Inborn Genetic Disease;   genetic diseases;   inborn genetic diseases;   single gene defects;   single-gene defect
 primary_id: MESH:D030342
 xref: EFO:0000508;   NCI:C3101
For additional species annotation, visit the Alliance of Genome Resources.



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    Term Annotations click to browse term
      disease 18246
        Developmental Disease 13102
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
            genetic disease 11365
              Adrenocortical Hypofunction, Chronic Primary Congenital 0
              Alpha-2-Deficient Collagen Disease 0
              Aquaporin 1 Deficiency 1
              BOCKENHEIMER SYNDROME 1
              CADASIL + 4
              CAKUT2 4
              Cenani-Lenz syndactyly syndrome 1
              Congenital Hepatic Fibrosis 3
              Congenital Pain Insensitivity + 12
              Dwarfism + 743
              Familial Cirrhosis + 2
              Familial Dysalbuminemic Hyperthyroxinemia 1
              Familial Hemophagocytic Lymphohistiocytoses + 42
              Familial Lipochrome Histiocytosis 0
              Familial Mixed Cryoglobulinemia 1
              Familial Temporal Epilepsy + 272
              Genetic Skin Diseases + 1583
              Hereditary Bilateral Parotidomegaly 0
              Hereditary Epistaxis 0
              Hereditary Eye Diseases + 783
              Hereditary Neoplastic Syndromes + 1065
              Isolated Prolactin Deficiency 0
              Kallmann syndrome + 33
              Laminopathies + 54
              Marfan syndrome + 216
              Nervous System Heredodegenerative Disorders + 2429
              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 + 64
              brachydactyly type A1B 0
              brachydactyly type A1C 1
              brachydactyly type A1D 1
              brachydactyly type B1 1
              brachydactyly type B2 1
              brachydactyly type E1 2
              brachydactyly type E2 1
              cataract 25 0
              cataract 26 multiple types 0
              cataract 27 2
              cataract 28 0
              chromosomal disease + 2393
              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 + 105
              frontotemporal dementia and/or amyotrophic lateral sclerosis-3 1
              frontotemporal dementia and/or amyotrophic lateral sclerosis-4 2
              hereditary lymphedema + 13
              hypogonadotropic hypogonadism 5 with or without anosmia + 1
              inherited metabolic disorder + 4713
              monogenic disease + 8941
              osteochondrodysplasia + 631
              polygenic disease + 23
              primary hypertrophic osteoarthropathy + 2
              progressive familial intrahepatic cholestasis + 12
              yellow nail syndrome + 0
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