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Autosomal Recessive Dyskeratosis Congenita - Ontology Report - Rat Genome Database

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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:Autosomal Recessive Dyskeratosis Congenita
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Accession:DOID:9004373 term browser browse the term
Synonyms:exact_synonym: recessive dyskeratosis congenita
 primary_id: MESH:C565611

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Autosomal Recessive Dyskeratosis Congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298 		JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 		CTD
ClinVar		 PMID:25741868 NCBI chr 3:119,521,255...119,522,340
Ensembl chr 3:99,066,857...99,067,942 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr 3:119,525,521...119,624,655
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO DNA:mutations:exons:
ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive 		ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:21205863 RGD:21081678 NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
autosomal recessive dyskeratosis congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 OMIM
ClinVar		 PMID:9536098 PMID:17507419 PMID:17576681 PMID:20301779 PMID:24033266 More... NCBI chr 3:119,521,255...119,522,340
Ensembl chr 3:99,066,857...99,067,942 		JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:25741868 NCBI chr 3:119,525,521...119,624,655
Ensembl chr 3:99,071,391...99,170,258 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar PMID:17785587 PMID:20301779 PMID:25741868 PMID:26887940 PMID:28192371 More... NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
autosomal recessive dyskeratosis congenita 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhp2 NHP2 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 | ClinVar Annotator: match by term: NHP2-related condition OMIM
ClinVar		 PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 PMID:31681265 More... NCBI chr10:35,877,057...35,880,399
Ensembl chr10:35,877,054...35,882,545 		JBrowse link
G Rmnd5b required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 | ClinVar Annotator: match by term: NHP2-related condition ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr10:35,881,250...35,892,322
Ensembl chr10:35,881,268...35,892,265 		JBrowse link
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition ClinVar PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: WRAP53-related condition OMIM
ClinVar		 PMID:17683073 PMID:20301779 PMID:21205863 PMID:24033266 PMID:25741868 More... NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
autosomal recessive dyskeratosis congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Autosomal recessive dyskeratosis congenita 4 ClinVar PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 More... NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arfrp1 ARF related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar NCBI chr 3:168,466,351...168,473,960
Ensembl chr 3:168,466,496...168,473,914 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:23453664 PMID:23959892 PMID:25607374 PMID:28492532 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957 		JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617 		JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788 		JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:188,716,370...188,730,776
Ensembl chr 3:168,338,813...168,353,159 		JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071 		JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036 		JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 OMIM
ClinVar		 PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19461895 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915 		JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:25741868 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:22772368 PMID:23102774 PMID:25326637 PMID:25741868 PMID:26854089 More... NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
autosomal recessive dyskeratosis congenita 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Parn poly(A)-specific ribonuclease ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 OMIM
ClinVar		 PMID:8414520 PMID:9536098 PMID:9736620 PMID:16199547 PMID:17576681 More... NCBI chr10:1,917,830...2,055,749
Ensembl chr10:1,410,642...1,548,560 		JBrowse link
Autosomal Recessive Dyskeratosis Congenita 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acd ACD, shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7 ClinVar PMID:25205116 PMID:25233904 PMID:25741868 PMID:27807141 PMID:28492532 More... NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461 		JBrowse link
Autosomal Recessive Dyskeratosis Congenita 8 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: Dyskeratosis congenita, autosomal recessive 8 OMIM
ClinVar		 PMID:28492532 PMID:35007328 NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Genetic Skin Diseases 1869
          dyskeratosis congenita 331
            Autosomal Recessive Dyskeratosis Congenita 25
              Autosomal Recessive Dyskeratosis Congenita 7 1
              Autosomal Recessive Dyskeratosis Congenita 8 1
              autosomal recessive dyskeratosis congenita 1 5
              autosomal recessive dyskeratosis congenita 2 2
              autosomal recessive dyskeratosis congenita 3 2
              autosomal recessive dyskeratosis congenita 4 1
              autosomal recessive dyskeratosis congenita 5 14
              autosomal recessive dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              Genetic Skin Diseases 1869
                dyskeratosis congenita 331
                  Autosomal Recessive Dyskeratosis Congenita 25
                    Autosomal Recessive Dyskeratosis Congenita 7 1
                    Autosomal Recessive Dyskeratosis Congenita 8 1
                    autosomal recessive dyskeratosis congenita 1 5
                    autosomal recessive dyskeratosis congenita 2 2
                    autosomal recessive dyskeratosis congenita 3 2
                    autosomal recessive dyskeratosis congenita 4 1
                    autosomal recessive dyskeratosis congenita 5 14
                    autosomal recessive dyskeratosis congenita 6 1
paths to the root