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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 Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:35007328 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		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 PMID:20301779 More...
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 chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Syt6 synaptotagmin 6 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:28492532 NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia		 CTD
ClinVar		 PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Hoyeraal Hreidarsson Syndrome 7
Path 2
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18314
        genetic disease 18258
          monogenic disease 10240
            autosomal genetic disease 9385
              autosomal dominant disease 6164
                complex cortical dysplasia with other brain malformations 1575
                  Malformations of Cortical Development, Group I 1364
                    microcephaly 1120
                      Hoyeraal Hreidarsson Syndrome 7
paths to the root