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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
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Path 1
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  disease 13834
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6090
      genetic disease 5221
        AQUAPORIN 1 DEFICIENCY 1
        Adrenocortical Hypofunction, Chronic Primary Congenital 0
        Alagille syndrome 3
        Alpha-2-Deficient Collagen Disease 0
        Atrial Standstill 3
        Atrial Standstill 2 1
        Brugada syndrome + 50
        CADASIL + 2
        CADASIL 2 1
        CHARGE syndrome 5
        Camurati-Engelmann disease + 2
        Cardiomyopathy, Hypertrophic, Familial + 88
        Coffin-Siris syndrome + 8
        Congenital Hepatic Fibrosis 2
        Costello syndrome 8
        Cryoglobulinemia, Familial Mixed 1
        Donohue syndrome + 1
        Duane-radial ray syndrome 1
        Dwarfism + 165
        Epistaxis, Hereditary 0
        Eye Diseases, Hereditary + 476
        Familial Cirrhosis + 2
        Familial Dysalbuminemic Hyperthyroxinemia 1
        Familial Multiple Lipomatosis 0
        Frasier syndrome 1
        Genetic Skin Diseases + 553
        Hajdu-Cheney syndrome + 2
        Hereditary Autoinflammatory Diseases + 90
        Hereditary Myopathy with Early Respiratory Failure 1
        Hereditary Neoplastic Syndromes + 726
        Heredodegenerative Disorders, Nervous System + 925
        Histiocytosis, Familial Lipochrome 0
        Hyper-IgM Immunodeficiency Syndrome + 5
        IMMUNODEFICIENCY 31B 1
        Immunodeficiency 38, with Basal Ganglia Calcification 1
        Kallmann syndrome + 8
        Kartagener syndrome 37
        Laminopathies 1
        Lennox-Gastaut syndrome 3
        Loeys-Dietz syndrome + 33
        MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 1
        Marfan Syndrome, Autosomal Recessive 1
        Marfan syndrome + 52
        Neutropenia, Nonimmune Chronic Idiopathic, Adult 2
        Pain Insensitivity, Congenital + 7
        Parotidomegaly, Hereditary Bilateral 0
        Pelger-Huet anomaly + 2
        Polycystic Kidney Diseases + 110
        Prolactin Deficiency, Isolated 0
        RASopathies 16
        Rh deficiency syndrome 1
        Sacral Agenesis with Vertebral Anomalies 1
        Weill-Marchesani Syndrome 3 2
        Werner syndrome + 4
        X-linked genetic disease + 434
        Y-linked disease + 4
        adrenocorticotropic hormone deficiency 2
        ataxia telangiectasia + 14
        ataxic cerebral palsy 0
        autoimmune lymphoproliferative syndrome + 9
        cherubism + 1
        chondrodysplasia punctata + 8
        chromosomal disease + 1121
        ciliopathy + 181
        complement factor I deficiency 1
        congenital hemolytic anemia + 120
        congenital hypoplastic anemia + 101
        congenital myasthenic syndrome + 52
        corticosteroid-binding globulin deficiency 1
        desquamative interstitial pneumonia 1
        hemoglobinopathy + 92
        hereditary angioedema + 7
        inherited blood coagulation disease + 100
        inherited metabolic disorder + 1665
        malignant hyperthermia + 8
        monogenic disease + 905
        muscular dystrophy + 177
        ocular albinism with sensorineural deafness 2
        oculocerebrorenal syndrome + 5
        orofaciodigital syndrome + 12
        osteochondrodysplasia + 261
        osteogenesis imperfecta + 31
        platelet-type bleeding disorder 10 2
        primary hypertrophic osteoarthropathy + 2
        pulmonary alveolar microlithiasis 1
        yellow nail syndrome + 0
Path 2
Term Annotations click to browse term
  disease 13834
    Developmental Diseases 6506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6090
        genetic disease 5221
          AQUAPORIN 1 DEFICIENCY 1
          Adrenocortical Hypofunction, Chronic Primary Congenital 0
          Alagille syndrome 3
          Alpha-2-Deficient Collagen Disease 0
          Atrial Standstill 3
          Atrial Standstill 2 1
          Brugada syndrome + 50
          CADASIL + 2
          CADASIL 2 1
          CHARGE syndrome 5
          Camurati-Engelmann disease + 2
          Cardiomyopathy, Hypertrophic, Familial + 88
          Coffin-Siris syndrome + 8
          Congenital Hepatic Fibrosis 2
          Costello syndrome 8
          Cryoglobulinemia, Familial Mixed 1
          Donohue syndrome + 1
          Duane-radial ray syndrome 1
          Dwarfism + 165
          Epistaxis, Hereditary 0
          Eye Diseases, Hereditary + 476
          Familial Cirrhosis + 2
          Familial Dysalbuminemic Hyperthyroxinemia 1
          Familial Multiple Lipomatosis 0
          Frasier syndrome 1
          Genetic Skin Diseases + 553
          Hajdu-Cheney syndrome + 2
          Hereditary Autoinflammatory Diseases + 90
          Hereditary Myopathy with Early Respiratory Failure 1
          Hereditary Neoplastic Syndromes + 726
          Heredodegenerative Disorders, Nervous System + 925
          Histiocytosis, Familial Lipochrome 0
          Hyper-IgM Immunodeficiency Syndrome + 5
          IMMUNODEFICIENCY 31B 1
          Immunodeficiency 38, with Basal Ganglia Calcification 1
          Kallmann syndrome + 8
          Kartagener syndrome 37
          Laminopathies 1
          Lennox-Gastaut syndrome 3
          Loeys-Dietz syndrome + 33
          MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 1
          Marfan Syndrome, Autosomal Recessive 1
          Marfan syndrome + 52
          Neutropenia, Nonimmune Chronic Idiopathic, Adult 2
          Pain Insensitivity, Congenital + 7
          Parotidomegaly, Hereditary Bilateral 0
          Pelger-Huet anomaly + 2
          Polycystic Kidney Diseases + 110
          Prolactin Deficiency, Isolated 0
          RASopathies 16
          Rh deficiency syndrome 1
          Sacral Agenesis with Vertebral Anomalies 1
          Weill-Marchesani Syndrome 3 2
          Werner syndrome + 4
          X-linked genetic disease + 434
          Y-linked disease + 4
          adrenocorticotropic hormone deficiency 2
          ataxia telangiectasia + 14
          ataxic cerebral palsy 0
          autoimmune lymphoproliferative syndrome + 9
          cherubism + 1
          chondrodysplasia punctata + 8
          chromosomal disease + 1121
          ciliopathy + 181
          complement factor I deficiency 1
          congenital hemolytic anemia + 120
          congenital hypoplastic anemia + 101
          congenital myasthenic syndrome + 52
          corticosteroid-binding globulin deficiency 1
          desquamative interstitial pneumonia 1
          hemoglobinopathy + 92
          hereditary angioedema + 7
          inherited blood coagulation disease + 100
          inherited metabolic disorder + 1665
          malignant hyperthermia + 8
          monogenic disease + 905
          muscular dystrophy + 177
          ocular albinism with sensorineural deafness 2
          oculocerebrorenal syndrome + 5
          orofaciodigital syndrome + 12
          osteochondrodysplasia + 261
          osteogenesis imperfecta + 31
          platelet-type bleeding disorder 10 2
          primary hypertrophic osteoarthropathy + 2
          pulmonary alveolar microlithiasis 1
          yellow nail syndrome + 0
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