Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Hoyeraal Hreidarsson Syndrome
go back to main search page
Accession:DOID:9001272 term browser browse the term
Synonyms:exact_synonym: HHS;   cerebellar hypoplasia with pancytopenia;   prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia
 primary_id: MESH:C536068
 alt_id: RDO:0001490
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      Hoyeraal Hreidarsson Syndrome 3
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            autosomal genetic disease 3769
              autosomal dominant disease 2311
                complex cortical dysplasia with other brain malformations 493
                  Malformations of Cortical Development, Group I 347
                    microcephaly 218
                      Hoyeraal Hreidarsson Syndrome 3
paths to the root


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