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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 chr11:5,850,816...5,900,081
Ensembl chr11:5,850,820...5,900,081 		JBrowse link
G Gnb4 guanine nucleotide binding protein (G protein), beta 4 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 3:32,632,736...32,670,813
Ensembl chr 3:32,634,481...32,670,734 		JBrowse link
G Kcnmb3 potassium large conductance calcium-activated channel, subfamily M, beta member 3 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 3:32,518,995...32,557,045
Ensembl chr 3:32,525,737...32,546,380 		JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388 		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 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pten phosphatase and tensin homolog IAGP
ISO		 OMIM:158350 | OMIM:612359 | OMIM:615106 | OMIM:615107 | OMIM:615108 | OMIM:615109
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 chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 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 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 3:32,564,355...32,574,982
Ensembl chr 3:32,564,408...32,574,982 		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 chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158 		JBrowse link
G Gm36566 predicted gene, 36566 ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr19:32,731,847...32,734,812 JBrowse link
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 9:21,634,872...21,661,215
Ensembl chr 9:21,634,779...21,661,215 		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 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pten phosphatase and tensin homolog IAGP
ISO		 OMIM:153480
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 chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
Cowden syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm36566 predicted gene, 36566 ISO ClinVar Annotator: match by term: Cowden syndrome 4 OMIM
ClinVar		 PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21417916 More... NCBI chr19:32,731,847...32,734,812 JBrowse link
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 chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		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 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
Cowden syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Cowden syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17611497 PMID:18256540 More... NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Zbtb42 zinc finger and BTB domain containing 42 ISO ClinVar Annotator: match by term: Cowden syndrome 6 ClinVar PMID:28492532 NCBI chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181 		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 2:144,398,165...144,432,673
Ensembl chr 2:144,398,149...144,432,669 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16223
    disease of cellular proliferation 7739
      Multiple Primary Neoplasms 269
        PTEN hamartoma tumor syndrome 38
          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 16223
    Developmental Disease 14000
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13024
        genetic disease 12714
          Hereditary Neoplastic Syndromes 1526
            PTEN hamartoma tumor syndrome 38
              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