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ONTOLOGY REPORT - ANNOTATIONS


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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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            Alport syndrome + 13
            Bartter disease + 8
            Brugada syndrome + 65
            Camurati-Engelmann disease + 3
            Cornelia de Lange syndrome + 16
            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 + 54
            Opitz-GBBB syndrome + 2
            Ritscher-Schinzel syndrome + 3
            X-linked monogenic disease + 917
            Y-linked monogenic disease + 4
            amyotrophic lateral sclerosis + 214
            autosomal genetic disease + 4348
            basal laminar drusen 1
            cardiofaciocutaneous syndrome + 8
            cataract + 189
            catecholaminergic polymorphic ventricular tachycardia + 23
            chondrodysplasia punctata + 7
            ciliopathy + 216
            cone-rod dystrophy + 61
            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 10
            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
            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.