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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


show annotations for term's descendants           Sort by:
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 chr 5:33,033,474...33,055,004
Ensembl chr 5:33,033,596...33,055,142 		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 chr17:51,711,267...51,716,806
Ensembl chr17:51,711,284...51,716,345 		JBrowse link
G NHP2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:3,389,549...3,393,010
Ensembl chr11:3,389,591...3,395,313 		JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr30:766,801...767,615
Ensembl chr30:766,853...767,613 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 NCBI chr 5:33,055,144...33,076,823
Ensembl chr 5:33,060,929...33,076,287 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333 		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 PMID:31681265 NCBI chr11:3,389,549...3,393,010
Ensembl chr11:3,389,591...3,395,313 		JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 OMIM
ClinVar		 PMID:17507419 PMID:20301779 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr30:766,801...767,615
Ensembl chr30:766,853...767,613 		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 chr11:3,393,852...3,409,484
Ensembl chr11:3,393,853...3,407,509 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 1 ClinVar NCBI chr30:773,021...860,936
Ensembl chr30:773,933...858,487 		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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		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 OMIM
ClinVar		 PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr11:3,389,549...3,393,010
Ensembl chr11:3,389,591...3,395,313 		JBrowse link
G RMND5B required for meiotic nuclear division 5 homolog B ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2 ClinVar PMID:18523010 PMID:20301779 PMID:25741868 PMID:28492532 NCBI chr11:3,393,852...3,409,484
Ensembl chr11:3,393,853...3,407,509 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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 chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333 		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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
autosomal recessive dyskeratosis congenita 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar NCBI chr24:47,250,442...47,256,637
Ensembl chr24:47,251,705...47,256,614 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr37:21,946,770...22,024,672
Ensembl chr37:21,948,456...22,024,867 		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 chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266 		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 chr24:47,142,804...47,145,305
Ensembl chr24:47,142,557...47,145,260 		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 chr24:47,173,914...47,198,461
Ensembl chr24:47,175,957...47,196,847 		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 chr24:47,147,346...47,161,452
Ensembl chr24:47,148,444...47,161,570 		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 chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711 		JBrowse link
G LOC102156300 collagen alpha-4(IV) chain ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 More... NCBI chr24:47,124,847...47,132,516 JBrowse link
G LOC487375 elongation factor 1-alpha 1-like 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 2:75,787,450...75,797,662 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 chr24:47,219,977...47,248,791 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 chr24:47,131,914...47,139,616
Ensembl chr24:47,133,911...47,139,537 		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 chr24:47,209,738...47,220,146
Ensembl chr24:47,209,784...47,219,472 		JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 ClinVar PMID:23453664 PMID:23729807 PMID:23959892 PMID:24009516 PMID:24033266 More... NCBI chr24:47,248,931...47,250,488
Ensembl chr24:47,248,312...47,250,380 		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:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:22834816 More... NCBI chr 6:28,629,137...28,783,671
Ensembl chr 6:28,629,174...28,783,901 		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 chr 5:81,789,915...81,792,725
Ensembl chr 5:81,789,997...81,792,639 		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 chr17:51,711,267...51,716,806
Ensembl chr17:51,711,284...51,716,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      skin disease 3751
        Genetic Skin Diseases 1818
          dyskeratosis congenita 326
            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 13
              autosomal recessive dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              Genetic Skin Diseases 1818
                dyskeratosis congenita 326
                  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 13
                    autosomal recessive dyskeratosis congenita 6 1
paths to the root