Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Autosomal Dominant Dyskeratosis Congenita
go back to main search page
Accession:DOID:9000981 term browser browse the term
Synonyms:primary_id: MESH:C565079
 alt_id: RDO:0013817
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Autosomal Dominant Dyskeratosis Congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Terc telomerase RNA component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
autosomal dominant dyskeratosis congenita 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actrt3 actin-related protein T3 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar NCBI chr 2:116,416,561...116,418,521
Ensembl chr 2:116,416,507...116,418,582
JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:15849264, PMID:21931702, PMID:25741868 NCBI chr 9:43,889,887...44,006,593
Ensembl chr 9:43,889,473...44,004,325
JBrowse link
G Mecom MDS1 and EVI1 complex locus ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:25741868, PMID:27192671 NCBI chr 2:117,396,084...117,993,604
Ensembl chr 2:117,396,007...117,454,769
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 OMIM
ClinVar
PMID:10721988, PMID:11574891, PMID:12090986, PMID:12676774, PMID:12972604, PMID:14630445, PMID:15082312, PMID:15098033, PMID:15319288, PMID:15550482, PMID:15886322, PMID:16332973, PMID:17460043, PMID:17640862, PMID:19095616, PMID:19835419, PMID:20022961, PMID:20193600, PMID:21844345, PMID:21931702, PMID:22341970, PMID:24033266, PMID:25612863, PMID:25741868, PMID:26024875, PMID:26136524, PMID:27192671, PMID:28492532, PMID:29146883, PMID:30426156, PMID:31265491 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:12167716, PMID:15885610, PMID:16247010, PMID:16627250, PMID:16990594, PMID:18042801, PMID:18635888, PMID:18931339, PMID:21602826, PMID:23901009, PMID:24033266, PMID:25365545, PMID:25562321, PMID:25741868, PMID:26329388, PMID:26360549, PMID:26887940, PMID:27418648, PMID:28154186, PMID:28492532, PMID:28813500 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISS
ISO
OMIM:127550
ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1
MouseDO
ClinVar
PMID:18252230, PMID:18669893, PMID:19090550, PMID:21199492, PMID:21536674, PMID:22211879, PMID:23094712, PMID:26859482, PMID:28492532, PMID:29742735 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
autosomal dominant dyskeratosis congenita 2 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 dominant, 2 ClinVar
OMIM
PMID:15814878, PMID:15885610, PMID:16247010, PMID:16627250, PMID:17460043, PMID:18042801, PMID:18460650, PMID:18753630, PMID:18931339, PMID:19147845, PMID:19674077, PMID:19760749, PMID:19796246, PMID:20858879, PMID:20966039, PMID:21258621, PMID:21520173, PMID:21520174, PMID:21635204, PMID:22424236, PMID:22476886, PMID:23538340, PMID:23716176, PMID:23901009, PMID:24033266, PMID:24983628, PMID:25108601, PMID:25741868, PMID:25785092, PMID:26024875, PMID:28154186, PMID:28492532, PMID:28677271, PMID:29463756, PMID:29483670, PMID:30426156, PMID:30995915 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
autosomal dominant dyskeratosis congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 3 ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 3
ClinVar Annotator: match by OMIM:613990
OMIM
ClinVar
PMID:18252230, PMID:18669893, PMID:18979121, PMID:19090550, PMID:21199492, PMID:21477109, PMID:21536674, PMID:22211879, PMID:23094712, PMID:25741868, PMID:26193622, PMID:26859482, PMID:28492532, PMID:29483670, PMID:29742735, PMID:30311386 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
autosomal dominant dyskeratosis congenita 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant, 4 ClinVar PMID:23329068, PMID:25741868, PMID:27128385, PMID:28099038, PMID:28492532, PMID:28930861 NCBI chr 3:176,818,012...176,856,531
Ensembl chr 3:176,818,437...176,856,531
JBrowse link
autosomal dominant dyskeratosis congenita 6 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 dominant 6
ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
OMIM
ClinVar
PMID:25205116, PMID:25233904, PMID:25505254, PMID:25741868, PMID:28492532, PMID:31515401 NCBI chr19:37,665,289...37,668,043
Ensembl chr19:37,665,296...37,667,987
JBrowse link
Revesz syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgm1 transglutaminase 1 ISO ClinVar Annotator: match by term: Revesz syndrome ClinVar PMID:18669893, PMID:21199492, PMID:22211879, PMID:28492532 NCBI chr15:34,378,136...34,393,150
Ensembl chr15:34,378,148...34,392,066
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Revesz syndrome
ClinVar Annotator: match by OMIM:268130
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18252230, PMID:18669893, PMID:18979121, PMID:21199492, PMID:21477109, PMID:21536674, PMID:22211879, PMID:25741868, PMID:26193622, PMID:28492532, PMID:29483670, PMID:30311386 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        Genetic Skin Diseases 891
          dyskeratosis congenita 104
            Autosomal Dominant Dyskeratosis Congenita 9
              Revesz syndrome 2
              autosomal dominant dyskeratosis congenita 1 7
              autosomal dominant dyskeratosis congenita 2 1
              autosomal dominant dyskeratosis congenita 3 2
              autosomal dominant dyskeratosis congenita 4 1
              autosomal dominant dyskeratosis congenita 6 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Skin Abnormalities 659
              dyskeratosis congenita 104
                Autosomal Dominant Dyskeratosis Congenita 9
                  Revesz syndrome 2
                  autosomal dominant dyskeratosis congenita 1 7
                  autosomal dominant dyskeratosis congenita 2 1
                  autosomal dominant dyskeratosis congenita 3 2
                  autosomal dominant dyskeratosis congenita 4 1
                  autosomal dominant dyskeratosis congenita 6 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.