digenic disease

Term ID

DOID:0080578

Synonyms

Definition

A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. (3)

References

Ontology

Human Disease ( DOID:0080578 )

Relationships

is a type of: polygenic disease

polygenic disease Show first 5 Terms
has subtype: acrocallosal syndrome AMED syndrome autosomal recessive nonsyndromic deafness 1A autosomal-mitochondrial sensorineural deafness craniosynostosis 7 ... Show All 33 Terms

acrocallosal syndrome AMED syndrome autosomal recessive nonsyndromic deafness 1A autosomal-mitochondrial sensorineural deafness craniosynostosis 7 dyskeratosis congenita facioscapulohumeral muscular dystrophy 2 facioscapulohumeral muscular dystrophy 3 facioscapulohumeral muscular dystrophy 4 hereditary coproporphyria hereditary hypophosphatemic rickets with hypercalciuria iminoglycinuria Joubert syndrome 9 Joubert syndrome 15 long QT syndrome 1 long QT syndrome 2 long QT syndrome 3 long QT syndrome 5 long QT syndrome 6 long QT syndrome 9 methylmalonic aciduria and homocystinuria type cblC ocular albinism with sensorineural deafness oculocutaneous albinism type IB Parkinson's disease 6 primary pulmonary hypertension proteasome-associated autoinflammatory syndrome 1 proteasome-associated autoinflammatory syndrome 3 retinitis pigmentosa 7 short-rib thoracic dysplasia 7 with or without polydactyly spinocerebellar ataxia type 17 Usher syndrome type 1D Usher syndrome type 2C Waardenburg syndrome type 2A Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models