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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 syndrome 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;   CWS1;   Cowden disease;   Cowden syndrome 1;   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: OMIM:158350
 xref: GARD:6202;   NCI:C3076;   NCI:C8419;   OMIM:PS158350;   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 Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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, PMID:21417916, PMID:21532617, PMID:24033266, PMID:25669429, PMID:25741868, PMID:26467025, PMID:27535533, PMID:27878467, PMID:27884173, PMID:28492532 NCBI chr 1:251,417,849...251,420,794 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome
ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Lhermitte-Duclos Disease
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar PMID:15016963, PMID:15254419, PMID:15520168, PMID:15647370, PMID:15805248, PMID:15930273, PMID:16906227, PMID:16930767, PMID:17376864, PMID:18074223, PMID:18676830, PMID:18725974, PMID:18829572, PMID:19029981, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21824802, PMID:22120714, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22729222, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28151489, PMID:28492532, PMID:28941273, PMID:29446767, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Cowden disease
ClinVar Annotator: match by term: Lhermitte-Duclos disease
ClinVar
OMIM
PMID:1097835, PMID:2338203, PMID:7728760, PMID:8071972, PMID:8673088, PMID:8980400, PMID:9140396, PMID:9241266, PMID:9256433, PMID:9259288, PMID:9326929, PMID:9399897, PMID:9425889, PMID:9467011, PMID:9598803, PMID:9600246, PMID:9740666, PMID:9794233, PMID:9811831, PMID:9832031, PMID:9832032, PMID:9856571, PMID:9915974, PMID:10051160, PMID:10051603, PMID:10076877, PMID:10232405, PMID:10234502, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10554022, PMID:10555148, PMID:10606430, PMID:10749983, PMID:10777358, PMID:10848731, PMID:10866302, PMID:10920277, PMID:10923032, PMID:10978354, PMID:11052475, PMID:11071384, PMID:11156408, PMID:11238682, PMID:11274365, PMID:11476841, PMID:11504908, PMID:11685670, PMID:11875759, PMID:11918710, PMID:12208743, PMID:12372056, PMID:12414663, PMID:12471211, PMID:12614768, PMID:12833416, PMID:12844284, PMID:12938083, PMID:14518070, PMID:14566704, PMID:14623110, PMID:15016963, PMID:15120218, PMID:15211648, PMID:15254419, PMID:15372512, PMID:15647370, PMID:15805158, PMID:16007494, PMID:16014636, PMID:16021145, PMID:16704655, PMID:16752378, PMID:16773562, PMID:16952599, PMID:17167516, PMID:17286265, PMID:17324556, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17526801, PMID:17847000, PMID:17873119, PMID:17873882, PMID:17928923, PMID:17941496, PMID:17942903, PMID:17954274, PMID:18558293, PMID:18725974, PMID:18767981, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19457929, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:19968660, PMID:20018398, PMID:20085938, PMID:20194734, PMID:20300775, PMID:20301661, PMID:20453058, PMID:20600018, PMID:20619739, PMID:20712882, PMID:20881644, PMID:20926450, PMID:20962022, PMID:21103832, PMID:21194675, PMID:21343951, PMID:21417916, PMID:21532617, PMID:21659347, PMID:21822720, PMID:21828076, PMID:21869887, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22261759, PMID:22266152, PMID:22281088, PMID:22320991, PMID:22327138, PMID:22381246, PMID:22469695, PMID:22479427, PMID:22491738, PMID:22520842, PMID:22529920, PMID:22595938, PMID:22703879, PMID:22962422, PMID:23066114, PMID:23160955, PMID:23161105, PMID:23315997, PMID:23335809, PMID:23349303, PMID:23399955, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23555315, PMID:23613428, PMID:23695273, PMID:23757202, PMID:23764071, PMID:23825907, PMID:23886400, PMID:23934111, PMID:23934601, PMID:24033266, PMID:24052722, PMID:24055113, PMID:24099866, PMID:24136893, PMID:24345843, PMID:24375884, PMID:24379037, PMID:24468202, PMID:24728327, PMID:24744697, PMID:24763289, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25186627, PMID:25288137, PMID:25326635, PMID:25525159, PMID:25527629, PMID:25647146, PMID:25669429, PMID:25722288, PMID:25741868, PMID:25756585, PMID:25875300, PMID:25910213, PMID:25980754, PMID:26124082, PMID:26229595, PMID:26246517, PMID:26376867, PMID:26467025, PMID:26492180, PMID:26580448, PMID:26619011, PMID:26681312, PMID:26773036, PMID:26795104, PMID:26798346, PMID:26800850, PMID:26845104, PMID:26898890, PMID:27324988, PMID:27426521, PMID:27428751, PMID:27477328, PMID:27514801, PMID:27531073, PMID:27535533, PMID:27878467, PMID:27884173, PMID:27978560, PMID:28086757, PMID:28135145, PMID:28263302, PMID:28286253, PMID:28418444, PMID:28475857, PMID:28492532, PMID:28497778, PMID:28526761, PMID:28655553, PMID:28677221, PMID:29359449, PMID:29663862, PMID:29706350, PMID:29706646, PMID:29785012, PMID:29970488, PMID:30287823, PMID:30793491, PMID:31006514, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Cowden syndrome ClinVar PMID:28492532 NCBI chr 4:7,851,602...7,885,446
Ensembl chr 4:7,852,224...7,885,301
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 PMID:11404820, PMID:14985401, PMID:16314641, PMID:16317055, PMID:16322339, PMID:16912137, PMID:17102082, PMID:17102083, PMID:17298551, PMID:17376234, PMID:17639058, PMID:17987308, PMID:18551016, PMID:18678321, PMID:19368708, PMID:19399650, PMID:19454582, PMID:19802898, PMID:21979946, PMID:22517554, PMID:22703879, PMID:22995991, PMID:23072324, PMID:23660872, PMID:23666964, PMID:24033266, PMID:24728327, PMID:25333069, PMID:25694510, PMID:25741868, PMID:26092435, PMID:26269449, PMID:26729832, PMID:27604842, PMID:28229225, PMID:28492532 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Cowden disease ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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 OMIM NCBI chr 1:251,417,849...251,420,794 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:21824802, PMID:22729224, PMID:23246288, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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 ClinVar
OMIM
PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23246288, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23884910, PMID:23934607, PMID:24190505, PMID:24657128, PMID:24728327, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28459198, PMID:28492532, PMID:28655553 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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
OMIM
PMID:19561605, PMID:19621418, PMID:25044164, PMID:26522472, PMID:28492532, PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
Cowden-Like Syndrome 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 2 ClinVar PMID:15930273, PMID:17376864, PMID:19366826, PMID:21824802, PMID:22120714, PMID:22729224, PMID:22949682, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:28941273, PMID:30311386, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10749983, PMID:10848731, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11504908, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17873882, PMID:18558293, PMID:18725974, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20881644, PMID:21194675, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22381246, PMID:22479427, PMID:22491738, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:26773036, PMID:27426521, PMID:27477328, PMID:28286253, PMID:28492532, PMID:28526761, PMID:30287823, PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Cowden syndrome 2 ClinVar PMID:18678321, PMID:21565294, PMID:21979946, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of cellular proliferation 5918
      Hereditary Neoplastic Syndromes 815
        PTEN hamartoma tumor syndrome 27
          Cowden syndrome 9
            Cowden Syndrome 4 1
            Cowden Syndrome 5 1
            Cowden Syndrome 6 1
            Cowden Syndrome 7 1
            Cowden-Like Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Cowden syndrome 9
                  Cowden Syndrome 4 1
                  Cowden Syndrome 5 1
                  Cowden Syndrome 6 1
                  Cowden Syndrome 7 1
                  Cowden-Like Syndrome 3
paths to the root

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