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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:Cowden syndrome
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Accession:DOID:6457 term browser browse the term
Definition:A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. (DO)
Synonyms:exact_synonym: CD;   Cowden disease;   Cowden's disease;   Cowden's syndrome;   Cowdens disease;   Cowdens syndrome;   LDD;   Lhermitte-Duclos disease;   cerebellum dysplastic gangliocytoma;   cerebellum dysplastic gangliocytomas;   dysplastic gangliocytoma of cerebellum;   dysplastic gangliocytoma of the cerebellum
 related_synonym: Cowden disease 3
 primary_id: MIM:PS158350
 xref: GARD:6202;   ICDO:9493/0;   NCI:C3076;   NCI:C8419;   ORDO:201
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Cowden syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:19002431 PMID:19790256 PMID:25741868 PMID:29056535 PMID:30257192 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579 		JBrowse link
G Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,255,788...115,270,142
Ensembl chr 2:115,253,761...115,270,142 		JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's disease | ClinVar Annotator: match by term: Cowden's syndrome ClinVar PMID:9536098 PMID:15016963 PMID:15254419 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pten phosphatase and tensin homolog ISS
ISO		 ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease
ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome | ClinVar Annotator: match by term: Lhermitte-Duclos disease		 MouseDO
ClinVar		 PMID:1336932 PMID:8071972 PMID:9140396 PMID:9241266 PMID:9259288 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome ClinVar PMID:14985401 PMID:16322339 PMID:16912137 PMID:17102082 PMID:17102083 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:115,292,431...115,305,798
Ensembl chr 2:115,292,516...115,303,628 		JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:20538126 PMID:21376320 PMID:25487149 PMID:25647241 PMID:25741868 More... NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pten phosphatase and tensin homolog ISS
ISO		 OMIM:158350
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Macrocephaly pseudopapilledema and multiple hemangiomas		 MouseDO
ClinVar
OMIM		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		JBrowse link
Cowden syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 4 OMIM
ClinVar		 PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More...
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 4 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
Cowden syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 5 OMIM
ClinVar		 PMID:17376864 PMID:19366826 PMID:21824802 PMID:22228622 PMID:22729222 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
Cowden syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Cowden syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17611497 PMID:18256540 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Cowden syndrome 6 ClinVar PMID:28492532 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		JBrowse link
Cowden syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Cowden syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr 3:131,939,011...131,981,489
Ensembl chr 3:131,939,337...131,981,489 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Multiple Primary Neoplasms 269
        PTEN hamartoma tumor syndrome 40
          Cowden syndrome 14
            Bannayan-Riley-Ruvalcaba syndrome 6
            Cowden syndrome 4 2
            Cowden syndrome 5 1
            Cowden syndrome 6 2
            Cowden syndrome 7 1
            Cowden-Like Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          Hereditary Neoplastic Syndromes 1522
            PTEN hamartoma tumor syndrome 40
              Cowden syndrome 14
                Bannayan-Riley-Ruvalcaba syndrome 6
                Cowden syndrome 4 2
                Cowden syndrome 5 1
                Cowden syndrome 6 2
                Cowden syndrome 7 1
                Cowden-Like Syndrome 0
paths to the root