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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)
Synonyms:primary_id: RDO:9002038
For additional species annotation, visit the Alliance of Genome Resources.

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Term paths to the root
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Term Annotations click to browse term
  disease 12770
    Developmental Diseases 9044
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7866
        genetic disease 7409
          monogenic disease 5507
            autosomal genetic disease 4558
              Aicardi-Goutieres syndrome + 10
              Gillespie syndrome 1
              McCune Albright syndrome 2
              Robinow syndrome + 6
              Sotos syndrome + 3
              Weill-Marchesani syndrome + 5
              autosomal dominant disease + 2935
              autosomal hemophilia A 1
              autosomal recessive disease + 2493
              blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
              camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
              congenital nystagmus 1 1
              exudative vitreoretinopathy 4 1
              factor XI deficiency 3
              familial Mediterranean fever + 20
              familial adenomatous polyposis + 35
              hypophosphatasia + 2
              progeria + 16
              retinitis pigmentosa 86 1
              septooptic dysplasia + 13
              syndromic microphthalmia 12 1
              syndromic microphthalmia 14 2
              syndromic microphthalmia 8 1
              thrombophilia due to thrombomodulin defect 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.