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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal genetic disease
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Accession:DOID:0050739 term browser browse the term
Definition:A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)

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      disease 21112
        Developmental Disease 18434
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
            genetic disease 18231
              monogenic disease 10212
                autosomal genetic disease 9354
                  Aicardi-Goutieres syndrome + 210
                  Gillespie syndrome 2
                  McCune Albright syndrome 2
                  Robinow syndrome + 9
                  Sotos syndrome + 67
                  Weill-Marchesani syndrome + 5
                  autosomal dominant disease + 6131
                  autosomal hemophilia A 1
                  autosomal recessive disease + 6380
                  blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
                  combined oxidative phosphorylation deficiency 55 1
                  congenital nystagmus 1 1
                  distal arthrogryposis type 1C 1
                  exudative vitreoretinopathy 4 1
                  factor XI deficiency 11
                  familial Mediterranean fever + 23
                  familial adenomatous polyposis + 404
                  focal segmental glomerulosclerosis 3 1
                  hereditary spastic paraplegia 30 52
                  hypophosphatasia + 3
                  retinitis pigmentosa 86 1
                  septooptic dysplasia + 16
                  spondylocostal dysostosis 5 29
                  syndromic microphthalmia 12 3
                  syndromic microphthalmia 14 2
                  syndromic microphthalmia 8 0
                  thrombophilia due to thrombomodulin defect 1
                  tubulinopathy 1
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