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juvenile polyposis syndrome - Ontology Report - Rat Genome Database

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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;   GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI;   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
 related_synonym: Juvenile Polyp
 primary_id: MESH:C537702
 alt_id: MIM:174900
 xref: EFO:1000310;   GARD:3065

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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: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr 1:239,957,329...240,023,792
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO
ISS		 ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome
OMIM:174900
ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome
ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome | ClinVar Annotator: match by term: Polyposis familial of entire gastrointestinal tract
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:186643 PMID:581497 PMID:945914 PMID:2658044 PMID:3313277 More... RGD:734650 NCBI chr16:9,740,751...9,786,861
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 3:36,332,190...36,370,324
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: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr16:9,686,922...9,690,728
Ensembl chr16:9,680,668...9,684,474 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,640,312...9,673,957 		JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More...
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:11536076 PMID:12417513 PMID:16287957 PMID:16685657 PMID:18510548 More... NCBI chr16:9,862,161...9,926,338
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr 1:239,766,809...239,793,023
Ensembl chr 1:230,354,438...230,379,730 		JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:11536076 PMID:12417513 PMID:14526373 More... NCBI chr16:9,712,181...9,733,653
Ensembl chr16:9,705,892...9,727,405 		JBrowse link
G Nutm2 NUT family member 2 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr17:14,575,374...14,583,146
Ensembl chr17:14,423,735...14,431,397 		JBrowse link
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr 1:239,867,597...239,952,614
Ensembl chr 1:230,454,426...230,539,331 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:14526373 PMID:16287957 PMID:16685657 More... NCBI chr16:9,554,921...9,646,186
Ensembl chr16:9,548,660...9,639,965 		JBrowse link
G Smad4 SMAD family member 4 ISO
ISS		 DNA:deletion:exon:c.1372_1375del (human)
ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis coli | 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
OMIM:174900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | 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
DNA:nonsense mutation:exon:p.R445X (human)
DNA:splice-site mutation:intron:IVS2+1G>A (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7296942 PMID:8665501 PMID:8898652 PMID:9214508 PMID:9285566 More... RGD:1599898, RGD:12880039, RGD:11062492 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile polyposis syndrome ClinVar PMID:9286463 PMID:9467011 PMID:11536076 PMID:12417513 PMID:14526373 More... NCBI chr16:9,706,765...9,712,072
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Generalized juvenile polyposis/juvenile polyposis coli ClinVar PMID:25186627 PMID:25741868 PMID:26010451 PMID:26467025 PMID:26898890 More... NCBI chr 7:10,225,204...10,241,965
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 DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
DNA:mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI		 OMIM
CTD
ClinVar
RGD		 PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... RGD:11070199, RGD:11062720 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of cellular proliferation 7891
      Hereditary Neoplastic Syndromes 1531
        juvenile polyposis syndrome 16
          juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                juvenile polyposis syndrome 16
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
paths to the root