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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
 alt_id: RDO:0014202
For additional species annotation, visit the Alliance of Genome Resources.

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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 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889 		JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
DNA:mutations:exons:		 ClinVar PMID:25741868 PMID:28492532, PMID:21205863 RGD:21081678 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857 		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
ISS		 ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1
OMIM:224230		 ClinVar
MouseDO		 PMID:18523010 NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar
OMIM		 PMID:17507419 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739 		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 NCBI chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1 ClinVar PMID:17785587 PMID:26887940 PMID:28192371 PMID:28492532 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		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 OMIM:613987
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2		 ClinVar
OMIM		 PMID:18523010 NCBI chr10:34,975,701...34,979,082
Ensembl chr10:34,975,708...34,979,082 		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 NCBI chr10:34,979,902...34,990,985
Ensembl chr10:34,979,923...34,990,943 		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 PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		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 OMIM:613988		 OMIM
ClinVar		 PMID:17683073 PMID:21205863 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857 		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: Dyskeratosis congenita, autosomal recessive, 4 ClinVar PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:21258621 PMID:21602826 PMID:23901009 PMID:24033266 PMID:25365545 PMID:25741868 PMID:26887940 PMID:27418648 PMID:28192371 PMID:28492532 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		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 chr 3:176,857,667...176,865,105
Ensembl chr 3:176,859,151...176,865,103 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 5
ClinVar Annotator: match by OMIM:615190		 OMIM
ClinVar		 PMID:19461895 PMID:23329068 PMID:23453664 PMID:23591994 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25182133 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26808564 PMID:27128385 PMID:27415407 PMID:27418648 PMID:27540018 PMID:27824607 PMID:28099038 PMID:28188499 PMID:28192371 PMID:28492532 PMID:28507545 PMID:28930861 PMID:29344583 PMID:29361909 PMID:30523160 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531 		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
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6
ClinVar Annotator: match by OMIM:616353		 ClinVar
OMIM		 PMID:9736620 PMID:25741868 PMID:25848748 PMID:25893599 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28099038 PMID:28414520 PMID:28492532 PMID:31448843 NCBI chr10:1,309,724...1,461,123
Ensembl chr10:1,308,414...1,461,269 		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 Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7		 ClinVar PMID:25205116 PMID:25233904 PMID:28492532 NCBI chr19:37,665,289...37,668,043
Ensembl chr19:37,665,296...37,667,987 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      skin disease 2775
        Genetic Skin Diseases 894
          dyskeratosis congenita 104
            Autosomal Recessive Dyskeratosis Congenita 13
              Autosomal Recessive Dyskeratosis Congenita 7 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 2
              autosomal recessive dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            Skin Abnormalities 654
              dyskeratosis congenita 104
                Autosomal Recessive Dyskeratosis Congenita 13
                  Autosomal Recessive Dyskeratosis Congenita 7 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 2
                  autosomal recessive dyskeratosis congenita 6 1
paths to the root