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ONTOLOGY REPORT - ANNOTATIONS


Term:genetic disease
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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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  disease 14334
    Developmental Diseases 7256
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6873
        genetic disease 6121
          AQUAPORIN 1 DEFICIENCY 1
          Adrenocortical Hypofunction, Chronic Primary Congenital 0
          Alagille syndrome 3
          Alpha-2-Deficient Collagen Disease 0
          Alzheimer's disease 18 1
          Brugada syndrome + 51
          CADASIL + 2
          CAKUT2 4
          CHARGE syndrome 5
          COL4A1-related familial vascular leukoencephalopathy 2
          Cenani-Lenz syndactyly syndrome 1
          Congenital Hepatic Fibrosis 2
          Congenital Pain Insensitivity + 7
          Cryoglobulinemia, Familial Mixed 1
          Duane-radial ray syndrome 1
          Dwarfism + 210
          FTDALS3 1
          FTDALS4 1
          Familial Cirrhosis + 2
          Familial Dysalbuminemic Hyperthyroxinemia 1
          Familial Hemophagocytic Lymphohistiocytoses + 6
          Familial Temporal Epilepsy + 5
          Fuhrmann syndrome 1
          Genetic Skin Diseases + 569
          Greig cephalopolysyndactyly syndrome 1
          Hereditary Autoinflammatory Diseases + 96
          Hereditary Epistaxis 0
          Hereditary Eye Diseases + 489
          Hereditary Myopathy with Early Respiratory Failure 1
          Hereditary Neoplastic Syndromes + 643
          Histiocytosis, Familial Lipochrome 0
          IMMUNODEFICIENCY 31B 1
          Immunodeficiency 38, with Basal Ganglia Calcification 1
          Isolated Prolactin Deficiency 0
          Kallmann syndrome + 9
          Kartagener syndrome 37
          Laminopathies 1
          Lennox-Gastaut syndrome 6
          MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 1
          Marfan Syndrome, Autosomal Recessive 1
          Marfan syndrome + 52
          Nervous System Heredodegenerative Disorders + 1145
          Neutropenia, Nonimmune Chronic Idiopathic, Adult 2
          Parotidomegaly, Hereditary Bilateral 0
          Pfeiffer syndrome 2
          RASopathies 26
          Rh deficiency syndrome 3
          SOST-related sclerosing bone dysplasia 2
          Sacral Agenesis with Vertebral Anomalies 1
          Saethre-Chotzen syndrome 3
          Sorsby's fundus dystrophy 2
          adrenocorticotropic hormone deficiency 2
          advanced sleep phase syndrome 1 3
          advanced sleep phase syndrome 2 1
          advanced sleep phase syndrome 3 1
          age related macular degeneration 8 0
          ataxia telangiectasia + 18
          ataxic cerebral palsy 0
          atrial heart septal defect 3 1
          atrial heart septal defect 4 1
          autoimmune lymphoproliferative syndrome + 9
          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 1 multiple types 4
          cataract 10 multiple types 1
          cataract 11 multiple types + 1
          cataract 12 multiple types 1
          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 19 multiple types 1
          cataract 2 multiple types 3
          cataract 20 multiple types 1
          cataract 21 multiple types 1
          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 2
          cataract 31 multiple types 1
          cataract 32 multiple types 0
          cataract 33 2
          cataract 34 multiple types 1
          cataract 36 1
          cataract 37 0
          cataract 38 1
          cataract 39 multiple types 1
          cataract 4 multiple types + 1
          cataract 41 1
          cataract 43 1
          cataract 44 1
          cataract 45 1
          cataract 46 juvenile-onset 1
          cataract 5 multiple types 1
          cataract 6 multiple types 1
          cataract 7 2
          cataract 8 multiple types 0
          cataract 9 multiple types 2
          cherubism + 1
          chondrodysplasia punctata + 8
          chromosomal disease + 1226
          complement factor I deficiency 1
          complex cortical dysplasia with other brain malformations 1 1
          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 amegakaryocytic thrombocytopenia 1
          congenital diarrhea + 9
          congenital hemolytic anemia + 121
          congenital hypoplastic anemia + 101
          congenital hypotrichosis with juvenile macular dystrophy 1
          congenital myasthenic syndrome + 56
          corticosteroid-binding globulin deficiency 1
          desquamative interstitial pneumonia 1
          dilated cardiomyopathy 1A 4
          dilated cardiomyopathy 1AA 3
          dilated cardiomyopathy 1B 2
          dilated cardiomyopathy 1BB 1
          dilated cardiomyopathy 1C 1
          dilated cardiomyopathy 1CC 1
          dilated cardiomyopathy 1D 1
          dilated cardiomyopathy 1DD 2
          dilated cardiomyopathy 1E 1
          dilated cardiomyopathy 1EE 1
          dilated cardiomyopathy 1FF 1
          dilated cardiomyopathy 1G 6
          dilated cardiomyopathy 1GG 1
          dilated cardiomyopathy 1H 9
          dilated cardiomyopathy 1HH 1
          dilated cardiomyopathy 1I 1
          dilated cardiomyopathy 1II 1
          dilated cardiomyopathy 1J 1
          dilated cardiomyopathy 1JJ 2
          dilated cardiomyopathy 1K 0
          dilated cardiomyopathy 1KK 2
          dilated cardiomyopathy 1L 1
          dilated cardiomyopathy 1M 1
          dilated cardiomyopathy 1NN 1
          dilated cardiomyopathy 1O 1
          dilated cardiomyopathy 1P 2
          dilated cardiomyopathy 1Q 0
          dilated cardiomyopathy 1R 1
          dilated cardiomyopathy 1S 14
          dilated cardiomyopathy 1T 1
          dilated cardiomyopathy 1U 1
          dilated cardiomyopathy 1V 1
          dilated cardiomyopathy 1W 2
          dilated cardiomyopathy 1X 1
          dilated cardiomyopathy 1Y 1
          dilated cardiomyopathy 1Z 1
          dilated cardiomyopathy 2A 1
          dilated cardiomyopathy 2B 1
          dystonia 12 2
          dystonia 16 6
          dystonia 21 0
          dystonia 23 1
          dystonia 24 1
          dystonia 25 1
          dystonia 27 4
          dystonia 5 2
          dystonia 9 1
          episodic kinesigenic dyskinesia 1 6
          episodic kinesigenic dyskinesia 2 0
          familial hypertrophic cardiomyopathy + 90
          familial nephrotic syndrome + 30
          fatal infantile hypertonic myofibrillar myopathy 1
          fibrodysplasia ossificans progressiva 2
          focal segmental glomerulosclerosis 1 3
          focal segmental glomerulosclerosis 2 1
          focal segmental glomerulosclerosis 5 1
          focal segmental glomerulosclerosis 6 2
          focal segmental glomerulosclerosis 7 1
          focal segmental glomerulosclerosis 8 1
          focal segmental glomerulosclerosis 9 1
          hereditary angioedema + 7
          hereditary lymphedema + 4
          hereditary neutrophilia 1
          hyperimmunoglobulin syndrome + 13
          hypogonadotropic hypogonadism 10 with or without anosmia 1
          hypogonadotropic hypogonadism 11 with or without anosmia 1
          hypogonadotropic hypogonadism 12 with or without anosmia 4
          hypogonadotropic hypogonadism 13 with or without anosmia 1
          hypogonadotropic hypogonadism 14 with or without anosmia 1
          hypogonadotropic hypogonadism 15 with or without anosmia 1
          hypogonadotropic hypogonadism 16 with or without anosmia 1
          hypogonadotropic hypogonadism 17 with or without anosmia 1
          hypogonadotropic hypogonadism 18 with or without anosmia 1
          hypogonadotropic hypogonadism 19 with or without anosmia 1
          hypogonadotropic hypogonadism 20 with or without anosmia 1
          hypogonadotropic hypogonadism 21 with or without anosmia 2
          hypogonadotropic hypogonadism 22 with or without anosmia 1
          hypogonadotropic hypogonadism 23 with or without anosmia 2
          hypogonadotropic hypogonadism 24 without anosmia 1
          hypogonadotropic hypogonadism 3 with or without anosmia 1
          hypogonadotropic hypogonadism 4 with or without anosmia 1
          hypogonadotropic hypogonadism 5 with or without anosmia + 1
          hypogonadotropic hypogonadism 6 with or without anosmia 1
          hypogonadotropic hypogonadism 7 with or without anosmia 25
          hypogonadotropic hypogonadism 8 with or without anosmia 1
          hypogonadotropic hypogonadism 9 with or without anosmia 1
          hypotrichosis 1 3
          hypotrichosis 10 0
          hypotrichosis 11 1
          hypotrichosis 12 1
          hypotrichosis 13 1
          hypotrichosis 2 1
          hypotrichosis 3 0
          hypotrichosis 4 1
          hypotrichosis 5 0
          hypotrichosis 6 1
          hypotrichosis 7 1
          hypotrichosis 8 3
          hypotrichosis 9 0
          infantile histiocytoid cardiomyopathy 3
          inflammatory bowel disease 1 2
          inflammatory bowel disease 10 1
          inflammatory bowel disease 11 0
          inflammatory bowel disease 12 1
          inflammatory bowel disease 13 1
          inflammatory bowel disease 14 1
          inflammatory bowel disease 15 0
          inflammatory bowel disease 16 1
          inflammatory bowel disease 17 1
          inflammatory bowel disease 18 0
          inflammatory bowel disease 19 1
          inflammatory bowel disease 2 0
          inflammatory bowel disease 20 0
          inflammatory bowel disease 21 0
          inflammatory bowel disease 22 0
          inflammatory bowel disease 23 0
          inflammatory bowel disease 24 0
          inflammatory bowel disease 25 1
          inflammatory bowel disease 26 0
          inflammatory bowel disease 27 0
          inflammatory bowel disease 28 1
          inflammatory bowel disease 3 0
          inflammatory bowel disease 4 0
          inflammatory bowel disease 5 1
          inflammatory bowel disease 6 0
          inflammatory bowel disease 7 0
          inflammatory bowel disease 8 0
          inflammatory bowel disease 9 0
          inherited blood coagulation disease + 101
          inherited metabolic disorder + 1762
          intrahepatic cholestasis of pregnancy 1 2
          intrahepatic cholestasis of pregnancy 3 1
          karyomegalic interstitial nephritis 2
          long QT syndrome 1 6
          long QT syndrome 10 1
          long QT syndrome 11 1
          long QT syndrome 12 1
          long QT syndrome 13 1
          long QT syndrome 14 1
          long QT syndrome 15 1
          long QT syndrome 2 8
          long QT syndrome 3 3
          long QT syndrome 5 1
          long QT syndrome 6 6
          long QT syndrome 9 3
          monogenic disease + 2416
          muscular dystrophy + 239
          myoclonic dystonia 11 1
          myoclonic dystonia 26 1
          myofibrillar myopathy 2 1
          myofibrillar myopathy 3 1
          myofibrillar myopathy 4 1
          myofibrillar myopathy 5 2
          myofibrillar myopathy 6 1
          myofibrillar myopathy 7 3
          myofibrillar myopathy 8 1
          nemaline myopathy 1 1
          nemaline myopathy 10 1
          nemaline myopathy 11 1
          nemaline myopathy 2 3
          nemaline myopathy 3 2
          nemaline myopathy 4 1
          nemaline myopathy 5 1
          nemaline myopathy 6 41
          nemaline myopathy 7 1
          nemaline myopathy 8 1
          nemaline myopathy 9 1
          neurodegeneration with brain iron accumulation 2A 3
          neurodegeneration with brain iron accumulation 2B 1
          neurodegeneration with brain iron accumulation 3 2
          neurodegeneration with brain iron accumulation 4 1
          neurodegeneration with brain iron accumulation 6 1
          neurodevelopmental disorder with midbrain and hindbrain malformations 1
          neurogenic arthrogryposis multiplex congenita + 2
          orofaciodigital syndrome + 12
          osteochondrodysplasia + 336
          paroxysmal nonkinesigenic dyskinesia 1 3
          paroxysmal nonkinesigenic dyskinesia 2 0
          platelet-type bleeding disorder 10 2
          polycystic kidney disease + 96
          postural orthostatic tachycardia syndrome 1
          primary autosomal recessive microcephaly + 26
          primary hypertrophic osteoarthropathy + 2
          progressive familial heart block type IA 2
          progressive familial heart block type IB 1
          progressive familial heart block type II 0
          progressive familial intrahepatic cholestasis + 5
          pulmonary alveolar microlithiasis 1
          schizophrenia 1 0
          schizophrenia 10 0
          schizophrenia 11 0
          schizophrenia 12 0
          schizophrenia 13 0
          schizophrenia 14 0
          schizophrenia 15 1
          schizophrenia 16 0
          schizophrenia 18 1
          schizophrenia 2 0
          schizophrenia 3 0
          schizophrenia 4 3
          schizophrenia 5 0
          schizophrenia 6 1
          schizophrenia 7 0
          schizophrenia 8 0
          schizophrenia 9 2
          spermatogenic failure 10 1
          spermatogenic failure 11 1
          spermatogenic failure 12 2
          spermatogenic failure 13 1
          spermatogenic failure 14 1
          spermatogenic failure 15 1
          spermatogenic failure 16 1
          spermatogenic failure 17 2
          spermatogenic failure 18 1
          spermatogenic failure 19 1
          spermatogenic failure 20 1
          spermatogenic failure 21 1
          spermatogenic failure 22 1
          spermatogenic failure 23 1
          spermatogenic failure 3 3
          spermatogenic failure 4 2
          spermatogenic failure 5 1
          spermatogenic failure 6 2
          spermatogenic failure 7 3
          spermatogenic failure 8 2
          spermatogenic failure 9 1
          split hand-foot malformation 1 2
          split hand-foot malformation 1 with sensorineural hearing loss 1
          split hand-foot malformation 4 1
          split hand-foot malformation 6 1
          spondylocarpotarsal synostosis syndrome 2
          subacute sclerosing panencephalitis + 2
          torsion dystonia 13 0
          torsion dystonia 17 0
          torsion dystonia 7 1
          yellow nail syndrome + 0
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