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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 Annotations click to browse term
      disease 17208
        Developmental Disease 10920
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
            genetic disease 8961
              monogenic disease 7129
                autosomal genetic disease 6276
                  Aicardi-Goutieres syndrome + 75
                  Gillespie syndrome 1
                  McCune Albright syndrome 2
                  Robinow syndrome + 9
                  Sotos syndrome + 4
                  Weill-Marchesani syndrome + 5
                  autosomal dominant disease + 4461
                  autosomal hemophilia A 1
                  autosomal recessive disease + 3443
                  blepharophimosis, ptosis, and epicanthus inversus syndrome + 3
                  camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
                  congenital nystagmus 1 1
                  distal arthrogryposis type 1C 1
                  exudative vitreoretinopathy 4 1
                  factor XI deficiency 3
                  familial Mediterranean fever + 22
                  familial adenomatous polyposis + 397
                  focal segmental glomerulosclerosis 3 1
                  hypophosphatasia + 3
                  progeria + 19
                  retinitis pigmentosa 86 1
                  septooptic dysplasia + 10
                  syndromic microphthalmia 12 1
                  syndromic microphthalmia 14 2
                  syndromic microphthalmia 8 1
                  thrombophilia due to thrombomodulin defect 1
                  tubulinopathy 1
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