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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
 xref: GARD:6202;   ICDO:9493/0;   MIM:PS158350;   MONDO:0016063;   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 Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:117,289,112...117,329,050
Ensembl chr 2:117,293,284...117,328,945 		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 2:117,184,165...117,198,519
Ensembl chr 2:117,182,431...117,200,919 		JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden disease ClinVar PMID:23446638 PMID:25741868 PMID:28492532 PMID:31659132
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:117,241,759...117,290,190 		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:15930273 PMID:16199547 PMID:17376864 PMID:17576681 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		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: Cowden's 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: Lhermitte-Duclos disease 		MouseDO
ClinVar		 PMID:1336932 PMID:8071972 PMID:9140396 PMID:9241266 PMID:9259288 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome ClinVar PMID:12362046 PMID:14985401 PMID:15328326 PMID:16322339 PMID:16912137 More... NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:158,547,689...158,569,667 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:86,077,133...86,098,025
Ensembl chr13:86,077,134...86,098,044 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Cowden disease | ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:14985401 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 2:117,220,806...117,231,132
Ensembl chr 2:117,220,958...117,239,001 		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 chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358 		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 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15520168 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		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 		MouseDO
ClinVar
OMIM		 PMID:947011 PMID:1097835 PMID:1147684 PMID:1336932 PMID:1945792 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		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 5:158,547,775...158,568,589
Ensembl chr 5:158,547,689...158,569,667 		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 | ClinVar Annotator: match by term: KLLN-related condition OMIM
ClinVar		 PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 4 | ClinVar Annotator: match by term: KLLN-related condition ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		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:21270786 PMID:22228622 PMID:22729222 PMID:22729224 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		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:18954143 More... NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610 		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 6:137,559,622...137,561,750
Ensembl chr 6:137,555,304...137,570,261 		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 | ClinVar Annotator: match by term: SEC23B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561605 PMID:19621418 More... NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:152,392,308...152,434,800 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of cellular proliferation 7905
      Multiple Primary Neoplasms 284
        PTEN hamartoma tumor syndrome 51
          Cowden syndrome 15
            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 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          Hereditary Neoplastic Syndromes 1550
            PTEN hamartoma tumor syndrome 51
              Cowden syndrome 15
                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