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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, Infantile;   PJI;   SMAD4-related juvenile polyposis;   familial polyposis of entire gastrointestinal tract;   juvenile intestinal polyposis;   juvenile polyposis of stomach
 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 Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by OMIM:174900
ClinVar
OMIM
PMID:8397373 PMID:9286463 PMID:9467011 PMID:9536098 PMID:10881198 More... RGD:734650 NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Juvenile Polyposis ClinVar PMID:28492532 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Fam25a family with sequence similarity 25, member A ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr16:9,680,668...9,684,474
Ensembl chr16:9,680,668...9,684,474
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More...
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 chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532
JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730
JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr16:9,705,925...9,727,405
Ensembl chr16:9,705,892...9,727,405
JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
JBrowse link
G Smad4 SMAD family member 4 ISO DNA:deletion:exon:c.1372_1375del (human)
ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar Annotator: match by term: Juvenile Polyposis
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 More... RGD:1599898, RGD:12880039, RGD:11062492 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
ClinVar PMID:8397373 PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 More... NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract ClinVar PMID:25741868 PMID:26010451 PMID:26467025 PMID:26898890 PMID:28135145 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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:9536098 More... RGD:11070199, RGD:11062720 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Hereditary Neoplastic Syndromes 912
        juvenile polyposis syndrome 15
          juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                juvenile polyposis syndrome 15
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
paths to the root