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ONTOLOGY REPORT - ANNOTATIONS


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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  disease 16404
    Developmental Diseases 10195
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8329
        genetic disease 7779
          AQUAPORIN 1 DEFICIENCY 1
          Adrenocortical Hypofunction, Chronic Primary Congenital 0
          Alagille syndrome 6
          Alpha-2-Deficient Collagen Disease 0
          Alzheimer's disease 18 1
          CADASIL + 4
          CAKUT2 4
          CHARGE syndrome 6
          Cataract 48 2
          Cenani-Lenz syndactyly syndrome 2
          Congenital Hepatic Fibrosis 3
          Congenital Pain Insensitivity + 11
          Dwarfism + 336
          FTDALS3 1
          FTDALS4 1
          Familial Cirrhosis + 2
          Familial Dysalbuminemic Hyperthyroxinemia 1
          Familial Hemophagocytic Lymphohistiocytoses + 5
          Familial Lipochrome Histiocytosis 0
          Familial Mixed Cryoglobulinemia 1
          Familial Temporal Epilepsy + 6
          Genetic Skin Diseases + 798
          Hereditary Epistaxis 0
          Hereditary Eye Diseases + 556
          Hereditary Neoplastic Syndromes + 836
          IMMUNODEFICIENCY 31B 1
          Immunodeficiency 38, with Basal Ganglia Calcification 1
          Isolated Prolactin Deficiency 0
          Kallmann syndrome + 8
          Kartagener syndrome 35
          Laminopathies 1
          Lennox-Gastaut syndrome 7
          MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 1
          Marfan syndrome + 121
          Nervous System Heredodegenerative Disorders + 1963
          Nonimmune Chronic Idiopathic Neutropenia, Adult 2
          Parotidomegaly, Hereditary Bilateral 0
          RASopathies 41
          Rh deficiency syndrome 3
          Sacral Agenesis with Vertebral Anomalies 1
          adrenocorticotropic hormone deficiency 3
          advanced sleep phase syndrome 1 3
          advanced sleep phase syndrome 2 1
          advanced sleep phase syndrome 3 1
          age related macular degeneration 8 1
          ataxia telangiectasia + 15
          ataxic cerebral palsy 0
          atrial heart septal defect 3 1
          atrial heart septal defect 4 1
          autoimmune lymphoproliferative syndrome + 10
          brachydactyly type A1B 0
          brachydactyly type A1C 2
          brachydactyly type A1D 1
          brachydactyly type B1 1
          brachydactyly type B2 1
          brachydactyly type E1 1
          brachydactyly type E2 1
          cataract 1 multiple types 2
          cataract 10 multiple types 1
          cataract 11 multiple types + 1
          cataract 12 multiple types 2
          cataract 13 with adult i phenotype 1
          cataract 14 multiple types 1
          cataract 15 multiple types 1
          cataract 16 multiple types 1
          cataract 18 1
          cataract 2 multiple types 2
          cataract 20 multiple types 1
          cataract 21 multiple types 6
          cataract 23 1
          cataract 24 0
          cataract 25 0
          cataract 26 multiple types 0
          cataract 27 1
          cataract 28 0
          cataract 29 0
          cataract 3 multiple types 1
          cataract 30 3
          cataract 31 multiple types 1
          cataract 33 2
          cataract 36 1
          cataract 37 0
          cataract 38 1
          cataract 41 1
          cataract 42 1
          cataract 43 1
          cataract 44 1
          cataract 45 1
          cataract 46 juvenile-onset 1
          cataract 5 multiple types 1
          cataract 7 2
          cataract 8 multiple types 0
          cataract 9 multiple types 2
          cherubism + 1
          chromosomal disease + 1023
          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 + 12
          congenital hemolytic anemia + 129
          congenital hypoplastic anemia + 130
          congenital muscular dystrophy + 55
          congenital myasthenic syndrome + 67
          desquamative interstitial pneumonia 1
          familial hypertrophic cardiomyopathy + 95
          hereditary angioedema + 8
          hereditary lymphedema + 6
          hyperimmunoglobulin syndrome + 16
          hypogonadotropic hypogonadism 5 with or without anosmia + 1
          inherited blood coagulation disease + 98
          inherited metabolic disorder + 1904
          monogenic disease + 5043
          osteochondrodysplasia + 429
          platelet-type bleeding disorder 10 2
          polycystic kidney disease + 91
          polygenic disease + 13
          primary hypertrophic osteoarthropathy + 2
          progressive familial intrahepatic cholestasis + 5
          pulmonary alveolar microlithiasis 1
          yellow nail syndrome + 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.