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
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              Aicardi-Goutieres syndrome + 10
              Matthew-Wood syndrome 3
              McCune Albright syndrome 2
              Weill-Marchesani syndrome + 6
              autosomal dominant disease + 1111
              autosomal recessive disease + 1260
              brachydactyly-syndactyly syndrome 1
              camptodactyly-tall stature-scoliosis-hearing loss syndrome 1
              factor XI deficiency 1
              factor XII deficiency 2
              familial adenomatous polyposis + 28
              septooptic dysplasia + 11
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.