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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:Hoyeraal Hreidarsson Syndrome
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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.


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Hoyeraal Hreidarsson Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Hoyeraal Hreidarsson syndrome ClinVar PMID:7607282 PMID:10583221 PMID:12437656 PMID:19734544 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17785587 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Hoyeraal Hreidarsson Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group I 573
                    microcephaly 421
                      Hoyeraal Hreidarsson Syndrome 3
paths to the root