FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term polygenic disease ID (Ontology) DOID:0080577 (Human Disease)
Definition A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci.
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Spanning Tree (Parents/Children)
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  disease
   |__genetic disease
       |__polygenic disease  263 rec.
           |__digenic disease 263 rec.
               |__acrocallosal syndrome 2 rec.
               |__AMED syndrome 1 rec.
               |__autosomal recessive nonsyndromic deafness 1A
               |__autosomal-mitochondrial sensorineural deafness
               |__craniosynostosis 7 1 rec.
               |__dyskeratosis congenita(+) 14 rec.
               |__facioscapulohumeral muscular dystrophy 2
               |__facioscapulohumeral muscular dystrophy 3
               |__facioscapulohumeral muscular dystrophy 4
               |__hereditary coproporphyria 1 rec.
               |__hereditary hypophosphatemic rickets with hypercalciuria
               |__iminoglycinuria 11 rec.
               |__Joubert syndrome 9 1 rec.
               |__Joubert syndrome 15
               |__long QT syndrome 1 2 rec.
               |__long QT syndrome 2 3 rec.
               |__long QT syndrome 3 2 rec.
               |__long QT syndrome 5
               |__long QT syndrome 6
               |__long QT syndrome 9
               |__methylmalonic aciduria and homocystinuria type cblC 2 rec.
               |__ocular albinism with sensorineural deafness
               |__oculocutaneous albinism type IB
               |__Parkinson's disease 6 195 rec.
               |__primary pulmonary hypertension 5 rec.
               |__proteasome-associated autoinflammatory syndrome 1 2 rec.
               |__proteasome-associated autoinflammatory syndrome 3 1 rec.
               |__retinitis pigmentosa 7 5 rec.
               |__short-rib thoracic dysplasia 7 with or without polydactyly 1 rec.
               |__spinocerebellar ataxia type 17 9 rec.
               |__Usher syndrome type 1D 2 rec.
               |__Usher syndrome type 2C 2 rec.
               |__Waardenburg syndrome type 2A 1 rec.
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