Send us a Message



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

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
go back to main search page
Accession:DOID:0070025 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: DKCX;   Zinsser-Cole-Engman syndrome
 broad_synonym: DKC1-RELATED CONDITION
 primary_id: MIM:305000



show annotations for term's descendants           Sort by:
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: DKC1-related condition | ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked OMIM
ClinVar
PMID:768476 PMID:1361371 PMID:3009302 PMID:7607282 PMID:9042917 More...
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, X-linked | ClinVar Annotator: match by term: Zinsser-Cole-Engman Syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23959892 PMID:25741868 PMID:26847928 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
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 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 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 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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 chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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 19076
    sensory system disease 7183
      skin disease 4190
        Genetic Skin Diseases 1882
          dyskeratosis congenita 330
            X-linked dyskeratosis congenita 6
              Hoyeraal Hreidarsson Syndrome 6
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        Neurologic Manifestations 10284
          sensory system disease 7183
            skin disease 4190
              Genetic Skin Diseases 1882
                dyskeratosis congenita 330
                  X-linked dyskeratosis congenita 6
                    Hoyeraal Hreidarsson Syndrome 6
paths to the root