Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:juvenile polyposis syndrome
go back to main search page
Accession:DOID:0050787 term browser browse the term
Definition:An autosomal dominant 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;   Polyposis, familial, of entire gastrointestinal tract;   SMAD4-related juvenile polyposis
 narrow_synonym: JUVENILE POLYPOSIS COLI;   POLYPOSIS, FAMILIAL, OF ENTIRE GASTROINTESTINAL TRACT JUVENILE POLYPOSIS OF STOMACH
 primary_id: MESH:C537702
 alt_id: OMIM:174900;   RDO:0003585
 xref: GARD:3065
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
juvenile polyposis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atad1 ATPase family, AAA domain containing 1 JBrowse link 1 251,234,702 251,386,996 RGD:8554872
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:734650
RGD:8554872
RGD:7240710
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
G Fam25a family with sequence similarity 25, member A JBrowse link 16 10,702,264 10,706,073 RGD:8554872
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:8554872
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Minpp1 multiple inositol-polyphosphate phosphatase 1 JBrowse link 1 251,045,352 251,071,045 RGD:8554872
G Mmrn2 multimerin 2 JBrowse link 16 10,727,552 10,749,303 RGD:8554872
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 JBrowse link 1 251,145,264 251,230,716 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Shld2 shieldin complex subunit 2 JBrowse link 16 10,570,307 10,661,528 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:1599898
RGD:8554872
RGD:12880039
RGD:11062492
RGD:7240710
G Sncg synuclein, gamma JBrowse link 16 10,722,110 10,726,648 RGD:8554872
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:11070199
RGD:11062720

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      juvenile polyposis syndrome 14
        Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                juvenile polyposis syndrome 14
                  Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 2
paths to the root

NHLBI Logo

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