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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 chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Nhp2 NHP2 ribonucleoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:35,877,015...35,880,409
Ensembl chr10:35,877,054...35,882,545
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Dyskeratosis Congenita, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:99,066,857...99,067,942
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 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 NCBI chr 3:99,071,577...99,170,266
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 chr10:54,300,070...54,311,525
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, Recessive
DNA:mutations:exons:
ClinVar
RGD
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
ISS
ClinVar Annotator: match by term: Dyskeratosis congenita autosomal recessive 1
OMIM:224230
ClinVar
MouseDO
PMID:18523010 NCBI chr10:35,877,015...35,880,409
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 ClinVar
OMIM
PMID:17507419 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:99,066,857...99,067,942
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 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 NCBI chr 3:99,071,577...99,170,266
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:26887940 PMID:28192371 PMID:28492532 NCBI chr 1:29,637,213...29,659,509
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 OMIM:613987
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 2
ClinVar
OMIM
PMID:18523010 PMID:25741868 PMID:28492532 NCBI chr10:35,877,015...35,880,409
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 PMID:18523010 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 PMID:17683073 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,300,070...54,311,525
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 OMIM:613988
OMIM
ClinVar
PMID:17683073 PMID:21205863 PMID:24033266 PMID:25741868 PMID:28492532 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: Dyskeratosis congenita, autosomal recessive, 4 ClinVar PMID:15814878 PMID:17785587 PMID:18042801 PMID:18635888 PMID:18753630 More... NCBI chr 1:29,637,213...29,659,509
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 ADP-ribosylation factor 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 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:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23329068 More... NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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:9536098 PMID:9736620 PMID:16199547 PMID:17576681 PMID:25640679 More... NCBI chr10:1,410,636...1,548,573
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 Annotator: match by term: Dyskeratosis congenita, autosomal recessive 7
ClinVar PMID:25205116 PMID:25233904 PMID:28492532 NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        Genetic Skin Diseases 1051
          dyskeratosis congenita 107
            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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Skin Abnormalities 768
              dyskeratosis congenita 107
                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