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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: OMIM:174900
 xref: EFO:1000310;   GARD:3065


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: 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 1:230,544,227...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: 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: Generalized juvenile polyposis/juvenile polyposis coli | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar Annotator: match by term: Juvenile polyposis syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:186643 PMID:581497 PMID:945914 PMID:2658044 PMID:8397373 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: 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 chr16:9,680,668...9,684,474
Ensembl chr16:9,680,668...9,684,474 		JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: 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 chr16:9,640,312...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: 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 chr16:9,855,768...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: 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 1:230,354,483...230,379,730
Ensembl chr 1:230,354,438...230,379,730 		JBrowse link
G Mmrn2 multimerin 2 ISO ClinVar Annotator: match by term: 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 chr16:9,705,925...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: 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 1:230,454,314...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: 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 1:230,630,443...230,697,070
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 chr16:9,544,940...9,640,323
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
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 chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Sncg synuclein, gamma ISO ClinVar Annotator: match by term: 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 chr16:9,700,513...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: Generalized juvenile polyposis/juvenile polyposis coli ClinVar PMID:25186627 PMID:25741868 PMID:26010451 PMID:26467025 PMID:26898890 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 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 chr18:67,243,742...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 21128
    disease of cellular proliferation 7667
      Hereditary Neoplastic Syndromes 1279
        juvenile polyposis syndrome 15
          juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                juvenile polyposis syndrome 15
                  juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1
paths to the root