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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:Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
Synonyms:exact_synonym: Genetic Diseases;   Genetic Diseases, Inborn;   Genetic Disorder;   Genetic Disorders;   Hereditary Disease;   Hereditary Diseases;   Inborn Genetic Disease;   Single Gene Defects;   Single-Gene Defect
 primary_id: MESH:D030342;   RDO:0004759
 xref: NCI:C3101
For additional species annotation, visit the Alliance of Genome Resources.


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Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          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 12
          Cenani-Lenz syndactyly syndrome 1
          Congenital Hepatic Fibrosis 3
          Congenital Pain Insensitivity + 11
          Dwarfism + 495
          Familial Cirrhosis + 2
          Familial Dysalbuminemic Hyperthyroxinemia 1
          Familial Hemophagocytic Lymphohistiocytoses + 32
          Familial Lipochrome Histiocytosis 0
          Familial Mixed Cryoglobulinemia 1
          Familial Temporal Epilepsy + 14
          Genetic Skin Diseases + 891
          Hereditary Bilateral Parotidomegaly 0
          Hereditary Epistaxis 0
          Hereditary Eye Diseases + 580
          Hereditary Neoplastic Syndromes + 810
          Isolated Prolactin Deficiency 0
          Kallmann syndrome + 10
          Laminopathies 1
          Lennox-Gastaut syndrome 8
          Marfan syndrome + 209
          Nervous System Heredodegenerative Disorders + 1954
          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
          apparent mineralocorticoid excess syndrome 2
          aspartylglucosaminuria 1
          ataxic cerebral palsy 0
          atrial heart septal defect 3 1
          atrial heart septal defect 4 1
          autoimmune lymphoproliferative syndrome + 20
          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 + 1723
          complement factor I deficiency 1
          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
          complex cortical dysplasia with other brain malformations 7 1
          congenital diarrhea + 10
          congenital hemolytic anemia + 139
          congenital hypoplastic anemia + 107
          congenital muscular dystrophy + 70
          congenital myasthenic syndrome + 87
          desquamative interstitial pneumonia 1
          familial hypertrophic cardiomyopathy + 89
          frontotemporal dementia and/or amyotrophic lateral sclerosis-3 1
          frontotemporal dementia and/or amyotrophic lateral sclerosis-4 2
          hereditary angioedema + 9
          hereditary lymphedema + 8
          hypogonadotropic hypogonadism 5 with or without anosmia + 1
          inherited metabolic disorder + 2238
          monogenic disease + 5719
          osteochondrodysplasia + 446
          polygenic disease + 14
          primary hypertrophic osteoarthropathy + 2
          progressive familial intrahepatic cholestasis + 6
          pulmonary alveolar microlithiasis 1
          yellow nail syndrome + 0
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