monogenic disease

Term ID

DOID:0050177

Synonyms

Definition

A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders

References

Ontology

Human Disease ( DOID:0050177 )

Relationships

is a type of: genetic disease

genetic disease Show first 5 Terms
has subtype: Alport syndrome anterior segment dysgenesis autosomal genetic disease Bartter disease basal laminar drusen ... Show All 90 Terms

Alport syndrome anterior segment dysgenesis autosomal genetic disease Bartter disease basal laminar drusen Brugada syndrome Camurati-Engelmann disease cardiofaciocutaneous syndrome cataract catecholaminergic polymorphic ventricular tachycardia chondrodysplasia punctata ciliopathy cone-rod dystrophy contractures, pterygia, and spondylocarpotarsal fusion syndrome Cornelia de Lange syndrome corticosteroid-binding globulin deficiency dilated cardiomyopathy 1BB dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1I dilated cardiomyopathy 1J dilated cardiomyopathy 1K dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1T dilated cardiomyopathy 1W dilated cardiomyopathy 1Z erythrokeratodermia variabilis familial hemophagocytic lymphohistiocytosis 5 familial nephrotic syndrome Fanconi anemia complementation group F Fanconi anemia complementation group G Fanconi anemia complementation group J Fanconi anemia complementation group N fetal akinesia deformation sequence syndrome gene duplication disease hereditary combined deficiency of vitamin K-dependent clotting factors hypochondrogenesis infantile histiocytoid cardiomyopathy inflammatory bowel disease 1 inflammatory bowel disease 2 inflammatory bowel disease 4 inflammatory bowel disease 5 inflammatory bowel disease 6 inflammatory bowel disease 7 inflammatory bowel disease 8 inflammatory bowel disease 9 inflammatory bowel disease 10 inflammatory bowel disease 11 inflammatory bowel disease 12 inflammatory bowel disease 13 inflammatory bowel disease 14 inflammatory bowel disease 15 inflammatory bowel disease 16 inflammatory bowel disease 17 inflammatory bowel disease 18 inflammatory bowel disease 19 inflammatory bowel disease 20 inflammatory bowel disease 22 inflammatory bowel disease 23 inflammatory bowel disease 24 inflammatory bowel disease 26 inflammatory bowel disease 27 isolated microphthalmia 4 lambda 5 deficiency Leber congenital amaurosis 3 Leber congenital amaurosis 7 Leber congenital amaurosis 10 multiple epiphyseal dysplasia due to collagen 9 anomaly Noonan syndrome osteogenesis imperfecta type 6 osteogenesis imperfecta type 14 posterior polymorphous corneal dystrophy 3 postural orthostatic tachycardia syndrome primary congenital glaucoma Ritscher-Schinzel syndrome schizophrenia 9 schizophrenia 13 schizophrenia 14 schizophrenia 16 schizophrenia 18 SHOX-related short stature X-linked monogenic disease Y-linked monogenic disease Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models

Citations