Term:autosomal genetic disease
go back to main search page
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.

show annotations for term's descendants       view all columns           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  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
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.