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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:juvenile polyposis syndrome
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Accession:DOID:0050787 term browser browse the term
Definition:A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO)
Synonyms:exact_synonym: BMPR1A-related juvenile polyposis;   JIP;   JPS;   JUVENILE POLYPOSIS;   Juvenile Polyposis Of Infancy;   Juvenile Polyposis Of Stomach;   Juvenile Polyposis, Infantile;   Juvenile intestinal polyposis;   PJI;   SMAD4-related juvenile polyposis;   familial polyposis of entire gastrointestinal tract
 narrow_synonym: JUVENILE POLYPOSIS COLI
 primary_id: MESH:C537702
 alt_id: OMIM:174900
 xref: GARD:3065
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
juvenile polyposis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by OMIM:174900
ClinVar Annotator: match by synonym: Juvenile polyposis of infancy
ClinVar
OMIM
PMID:8397373, PMID:10881198, PMID:11073535, PMID:11381269, PMID:11536076, PMID:12136244, PMID:12417513, PMID:12630959, PMID:12676908, PMID:14526373, PMID:14734220, PMID:15235019, PMID:16152648, PMID:16287957, PMID:16436638, PMID:16525031, PMID:16685657, PMID:16705692, PMID:16902903, PMID:17325551, PMID:17344846, PMID:17873119, PMID:18160401, PMID:18178612, PMID:18510548, PMID:18823382, PMID:19438883, PMID:20843829, PMID:20845481, PMID:21153778, PMID:21203531, PMID:21872883, PMID:22067610, PMID:22138346, PMID:22703879, PMID:22993021, PMID:23331837, PMID:23399955, PMID:23433720, PMID:24033266, PMID:24055113, PMID:24121792, PMID:24448499, PMID:24728327, PMID:25058500, PMID:25117502, PMID:25186627, PMID:25525159, PMID:25530832, PMID:25559809, PMID:25637381, PMID:25741868, PMID:25860647, PMID:25980754, PMID:25996639, PMID:26270727, PMID:26436109, PMID:26467025, PMID:26489027, PMID:26659599, PMID:26681312, PMID:26845104, PMID:26976419, PMID:27146957, PMID:27153395, PMID:27621404, PMID:27696107, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28152038, PMID:28492532, PMID:28660566, PMID:29212164, PMID:29522511, PMID:29909963, PMID:30029678, PMID:30374176, PMID:30809968, PMID:11536076 RGD:734650 NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Juvenile Polyposis ClinVar PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Fam25a family with sequence similarity 25, member A ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr16:10,702,264...10,706,073
Ensembl chr16:10,702,263...10,706,073
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr 1:251,417,849...251,420,794 JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:16287957, PMID:16685657, PMID:18510548, PMID:23399955, PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr16:10,727,552...10,749,303
Ensembl chr16:10,727,571...10,749,382
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr 1:251,145,264...251,230,716
Ensembl chr 1:251,145,253...251,230,715
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
JBrowse link
G Smad4 SMAD family member 4 ISO DNA:deletion:exon:c.1372_1375del (human)
ClinVar Annotator: match by term: Juvenile Polyposis
ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar Annotator: match by term: Polyposis, juvenile intestinal
DNA:nonsense mutation:exon:p.R445X (human)
DNA:splice-site mutation:intron:IVS2+1G>A (human)
ClinVar Annotator: match by OMIM:174900
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:8653691, PMID:8665501, PMID:8898652, PMID:9214508, PMID:9285566, PMID:9389648, PMID:9582123, PMID:9679244, PMID:9811934, PMID:10398437, PMID:10441006, PMID:10479724, PMID:10764709, PMID:10775259, PMID:10790223, PMID:10797267, PMID:10822381, PMID:11274206, PMID:11583957, PMID:11782434, PMID:11920286, PMID:11977156, PMID:12136244, PMID:12417513, PMID:12821112, PMID:14526373, PMID:14647410, PMID:14715079, PMID:15014009, PMID:15031030, PMID:15235019, PMID:15288293, PMID:15350224, PMID:15637079, PMID:15754356, PMID:15814640, PMID:16152648, PMID:16287957, PMID:16436638, PMID:16613914, PMID:17362581, PMID:17873119, PMID:17994767, PMID:18178612, PMID:18355998, PMID:18823382, PMID:19135894, PMID:20101697, PMID:20685751, PMID:21153778, PMID:21421563, PMID:21465659, PMID:21572342, PMID:21835029, PMID:21898662, PMID:22158539, PMID:22243968, PMID:22316667, PMID:22331366, PMID:22581936, PMID:22585601, PMID:22683461, PMID:22703879, PMID:22748914, PMID:22810475, PMID:22843233, PMID:22846733, PMID:22875147, PMID:23139211, PMID:23239472, PMID:23399955, PMID:24033266, PMID:24398790, PMID:24424121, PMID:24465802, PMID:24525918, PMID:24580733, PMID:24715504, PMID:24728327, PMID:24841914, PMID:24983367, PMID:25148578, PMID:25186627, PMID:25318351, PMID:25502805, PMID:25523272, PMID:25559809, PMID:25589618, PMID:25637381, PMID:25695693, PMID:25741868, PMID:25742471, PMID:25931195, PMID:25980754, PMID:26387786, PMID:26420300, PMID:26467025, PMID:26572829, PMID:26614708, PMID:26619011, PMID:26633542, PMID:26636501, PMID:26681312, PMID:26900293, PMID:26976419, PMID:27023170, PMID:27146957, PMID:27153395, PMID:27302097, PMID:27375208, PMID:27443514, PMID:27562837, PMID:27595937, PMID:27611364, PMID:27613157, PMID:27978560, PMID:28135145, PMID:28196074, PMID:28199989, PMID:28492532, PMID:28628100, PMID:28685087, PMID:28716708, PMID:28726808, PMID:28827661, PMID:28873162, PMID:28944238, PMID:29069792, PMID:29684080, PMID:29955155, PMID:30251589, PMID:30256826, PMID:30311386, PMID:30374176, PMID:30426508, PMID:30809044, PMID:30842500, PMID:30968316, PMID:31595668, PMID:31654632, PMID:31837202, PMID:9582123, PMID:21465659, PMID:11583957 RGD:1599898, RGD:12880039, RGD:11062492 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:14526373, PMID:16287957, PMID:16685657, PMID:18510548, PMID:22993021, PMID:23331837, PMID:23399955, PMID:28492532 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
JBrowse link
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by OMIM:175050
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
DNA:mutations:exon:multiple
ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
OMIM
ClinVar
PMID:6604412, PMID:8898652, PMID:9214508, PMID:9285566, PMID:9582123, PMID:9679244, PMID:9811934, PMID:10479724, PMID:10764709, PMID:10775259, PMID:10790223, PMID:10797267, PMID:11274206, PMID:11583957, PMID:11782434, PMID:12116240, PMID:12417513, PMID:12821112, PMID:14715079, PMID:15014009, PMID:15031030, PMID:15235019, PMID:15288293, PMID:15754356, PMID:16152648, PMID:16436638, PMID:16613914, PMID:17873119, PMID:17994767, PMID:18355998, PMID:18823382, PMID:20101697, PMID:20685751, PMID:21465659, PMID:21572342, PMID:21835029, PMID:22316667, PMID:22331366, PMID:22703879, PMID:22748914, PMID:22875147, PMID:23239472, PMID:23399955, PMID:24033266, PMID:24465802, PMID:25148578, PMID:25186627, PMID:25318351, PMID:25559809, PMID:25589618, PMID:25637381, PMID:25695693, PMID:25741868, PMID:25931195, PMID:25980754, PMID:26467025, PMID:26572829, PMID:26619011, PMID:26681312, PMID:26900293, PMID:26976419, PMID:27146957, PMID:27153395, PMID:27375208, PMID:27443514, PMID:27595937, PMID:27613157, PMID:27978560, PMID:28135145, PMID:28196074, PMID:28492532, PMID:28726808, PMID:28873162, PMID:28944238, PMID:29684080, PMID:30809044, PMID:30842500, PMID:15031030, PMID:20101697 RGD:11070199, RGD:11062720 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      juvenile polyposis syndrome 14
        juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                juvenile polyposis syndrome 14
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
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.