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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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 18864
    Developmental Diseases 12169
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10001
        genetic disease 9471
          monogenic disease 6932
            autosomal genetic disease 5692
              Aicardi-Goutieres syndrome + 14
              Gillespie syndrome 1
              McCune Albright syndrome 2
              Robinow syndrome + 9
              Sotos syndrome + 4
              Weill-Marchesani syndrome + 6
              autosomal dominant disease + 3667
              autosomal hemophilia A 2
              autosomal recessive disease + 3028
              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 4
              familial Mediterranean fever + 21
              familial adenomatous polyposis + 40
              hypophosphatasia + 2
              progeria + 17
              retinitis pigmentosa 86 1
              septooptic dysplasia + 14
              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.