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 (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). (DO)
Synonyms:primary_id: RDO:9002037
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            Alport syndrome + 15
            Bartter disease + 9
            Brugada syndrome 2 1
            Brugada syndrome 3 1
            Brugada syndrome 4 2
            Brugada syndrome 5 1
            Brugada syndrome 6 1
            Brugada syndrome 8 1
            Camurati-Engelmann disease + 2
            Cayman type cerebellar ataxia 1
            Charcot-Marie-Tooth disease + 266
            Opitz-GBBB syndrome + 2
            X-linked monogenic disease + 838
            Y-linked monogenic disease + 3
            amyotrophic lateral sclerosis + 194
            autosomal genetic disease + 2160
            basal laminar drusen 1
            cardiofaciocutaneous syndrome + 8
            cataract + 183
            catecholaminergic polymorphic ventricular tachycardia + 22
            cone-rod dystrophy + 48
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.