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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:X-linked dyskeratosis congenita
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Accession:DOID:0070025 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28. (DO)
Synonyms:exact_synonym: DKCX;   Zinsser-Cole-Engman syndrome
 primary_id: OMIM:305000
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked dyskeratosis congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked OMIM
ClinVar
PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 PMID:9590285 More...
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 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:28492532
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: Hoyeraal-Hreidarsson syndrome
CTD
ClinVar
PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115 NCBI chr 1:29,637,213...29,659,509
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:28166811 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 18156
    sensory system disease 6410
      skin disease 3782
        Genetic Skin Diseases 1565
          dyskeratosis congenita 255
            X-linked dyskeratosis congenita 7
              Hoyeraal Hreidarsson Syndrome 7
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            Skin Abnormalities 1077
              dyskeratosis congenita 255
                X-linked dyskeratosis congenita 7
                  Hoyeraal Hreidarsson Syndrome 7
paths to the root