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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 (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
For additional species annotation, visit the Alliance of Genome Resources.


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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            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 + 264
            Opitz-GBBB syndrome + 2
            X-linked monogenic disease + 490
            Y-linked monogenic disease + 2
            amyotrophic lateral sclerosis + 194
            autosomal genetic disease + 2132
            basal laminar drusen 1
            cardiofaciocutaneous syndrome + 8
            cataract + 182
            catecholaminergic polymorphic ventricular tachycardia + 22
            cone-rod dystrophy + 47
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