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hereditary mixed polyposis syndrome 2 - 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:hereditary mixed polyposis syndrome 2
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Accession:DOID:0111686 term browser browse the term
Definition:A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. (DO)
Synonyms:exact_synonym: HMPS2
 primary_id: MESH:C566451
 alt_id: MIM:610069

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hereditary mixed polyposis syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 OMIM
ClinVar		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chrNW_004624841:218,642...304,744
Ensembl chrNW_004624841:219,133...265,397 		JBrowse link
G G BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 OMIM
ClinVar		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chr 9:44,944,463...45,108,832
Ensembl chr 9:44,941,460...45,027,275 		JBrowse link
G P BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 OMIM
ClinVar		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,790 		JBrowse link
G S Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 OMIM
ClinVar		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chrNW_004936804:52,435...115,289
Ensembl chrNW_004936804:48,947...115,412 		JBrowse link
G D BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 OMIM
ClinVar		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chr 4:34,499,898...34,582,481
Ensembl chr 4:34,517,492...34,578,923 		JBrowse link
G B BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 OMIM
ClinVar		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912 		JBrowse link
G C Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 OMIM
ClinVar		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chrNW_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312 		JBrowse link
G R Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616 		JBrowse link
G M Bmpr1a bone morphogenetic protein receptor, type 1A ISO ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298 		JBrowse link
G H BMPR1A bone morphogenetic protein receptor type 1A IAGP
EXP		 ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:581497 PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 More... NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Hereditary Neoplastic Syndromes 15201
        familial adenomatous polyposis 3813
          hereditary mixed polyposis syndrome 63
            hereditary mixed polyposis syndrome 2 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      gastrointestinal system disease 79896
        Digestive System Neoplasms 38062
          Gastrointestinal Neoplasms 36632
            Intestinal Neoplasms 17620
              Colorectal Neoplasms 17434
                familial adenomatous polyposis 3813
                  hereditary mixed polyposis syndrome 63
                    hereditary mixed polyposis syndrome 2 10
paths to the root