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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


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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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328 NCBI chr17:51,711,267...51,716,806
Ensembl chr17:51,711,284...51,716,345 		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:16332973 PMID:19734544 More... NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884 		JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475 NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human) RGD PMID:23959892 RGD:152977765 NCBI chr24:47,219,977...47,248,791 JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia ClinVar PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:4,221,183...4,223,863
Ensembl chr 8:4,221,269...4,223,512 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    syndrome 10591
      Hoyeraal Hreidarsson Syndrome 6
Path 2
Term Annotations click to browse term
  disease 15753
    Developmental Disease 13754
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12833
        genetic disease 12530
          monogenic disease 10692
            autosomal genetic disease 10227
              autosomal dominant disease 6658
                complex cortical dysplasia with other brain malformations 1640
                  Malformations of Cortical Development, Group I 1394
                    microcephaly 1143
                      Hoyeraal Hreidarsson Syndrome 6
paths to the root