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ONTOLOGY REPORT - ANNOTATIONS


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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  disease 17649
    Developmental Diseases 11069
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9197
        genetic disease 8702
          monogenic disease 6241
            autosomal genetic disease 4988
              Aicardi-Goutieres syndrome + 13
              Gillespie syndrome 1
              McCune Albright syndrome 2
              Robinow syndrome + 9
              Weill-Marchesani syndrome + 5
              autosomal dominant disease + 3141
              autosomal hemophilia A 0
              autosomal recessive disease + 2646
              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 + 16
              familial adenomatous polyposis + 35
              hypophosphatasia + 2
              progeria + 17
              septooptic dysplasia + 11
              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.