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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:monogenic disease
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Accession:DOID:0050177 term browser browse the term
Definition:A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)
Synonyms:primary_id: RDO:9002037
For additional species annotation, visit the Alliance of Genome Resources.


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Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            Alport syndrome + 13
            Bartter disease + 8
            Brugada syndrome + 67
            Camurati-Engelmann disease + 3
            Fanconi anemia complementation group F 1
            Fanconi anemia complementation group G 2
            Fanconi anemia complementation group J 1
            Fanconi anemia complementation group N 1
            Leber congenital amaurosis 10 2
            Leber congenital amaurosis 3 1
            Leber congenital amaurosis 7 2
            Noonan syndrome + 52
            Opitz-GBBB syndrome + 2
            Ritscher-Schinzel syndrome + 3
            X-linked monogenic disease + 920
            Y-linked monogenic disease + 4
            amyotrophic lateral sclerosis + 220
            anterior segment dysgenesis + 29
            autosomal genetic disease + 4699
            basal laminar drusen 1
            cardiofaciocutaneous syndrome + 7
            cataract + 213
            catecholaminergic polymorphic ventricular tachycardia + 23
            chondrodysplasia punctata + 7
            ciliopathy + 227
            cone-rod dystrophy + 79
            corticosteroid-binding globulin deficiency 1
            dilated cardiomyopathy 1BB 2
            dilated cardiomyopathy 1EE 1
            dilated cardiomyopathy 1FF 2
            dilated cardiomyopathy 1G 2
            dilated cardiomyopathy 1GG 1
            dilated cardiomyopathy 1H 18
            dilated cardiomyopathy 1I 1
            dilated cardiomyopathy 1J 1
            dilated cardiomyopathy 1K 0
            dilated cardiomyopathy 1L 1
            dilated cardiomyopathy 1M 1
            dilated cardiomyopathy 1O 1
            dilated cardiomyopathy 1P 2
            dilated cardiomyopathy 1Q 0
            dilated cardiomyopathy 1T 1
            dilated cardiomyopathy 1W 2
            dilated cardiomyopathy 1Z 1
            erythrokeratodermia variabilis + 7
            familial hemophagocytic lymphohistiocytosis 5 25
            familial nephrotic syndrome + 40
            fetal akinesia deformation sequence syndrome + 43
            gene duplication disease + 1
            hypochondrogenesis 1
            infantile histiocytoid cardiomyopathy 5
            inflammatory bowel disease 1 4
            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 22 0
            inflammatory bowel disease 23 0
            inflammatory bowel disease 24 0
            inflammatory bowel disease 26 0
            inflammatory bowel disease 27 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
            isolated microphthalmia 4 1
            lambda 5 deficiency 0
            multiple epiphyseal dysplasia due to collagen 9 anomaly + 3
            multiple pterygium syndrome + 4
            osteogenesis imperfecta type 14 1
            osteogenesis imperfecta type 6 1
            posterior polymorphous corneal dystrophy 3 1
            postural orthostatic tachycardia syndrome 1
            primary congenital glaucoma + 9
            schizophrenia 13 0
            schizophrenia 14 0
            schizophrenia 16 1
            schizophrenia 18 1
            schizophrenia 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.