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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:desmoplastic/nodular medulloblastoma
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Accession:DOID:3873 term browser browse the term
Definition:A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. (DO)
Synonyms:exact_synonym: nodular medulloblastoma
 xref: NCI:C4956;   NCI:C5407
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTR1A actin related protein 1A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,480,196...113,498,794
Ensembl chr14:113,480,196...113,498,740 		JBrowse link
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr 5:76,637,385...76,800,155
Ensembl chr 5:76,636,967...76,797,043 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,668,375...113,699,583
Ensembl chr14:113,665,270...113,707,591 		JBrowse link
G AS3MT arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,844,107...113,867,880
Ensembl chr14:113,847,859...113,869,507 		JBrowse link
G ATP5MK ATP synthase membrane subunit k ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,321,616...114,327,517
Ensembl chr14:114,321,622...114,327,485 		JBrowse link
G BORCS7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,809,368...113,848,555
Ensembl chr14:113,831,363...113,844,301 		JBrowse link
G CALHM3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,406,491...114,413,348
Ensembl chr14:114,406,589...114,413,170 		JBrowse link
G CFAP43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:115,073,529...115,201,965
Ensembl chr14:115,073,366...115,174,043 		JBrowse link
G CFAP58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:115,292,386...115,410,852
Ensembl chr14:115,285,979...115,410,481 		JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,888,970...114,060,369
Ensembl chr14:113,889,950...114,053,352 		JBrowse link
G COL17A1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783 		JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041 		JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:115,206,434...115,216,624
Ensembl chr14:115,206,188...115,216,613 		JBrowse link
G GSTO2 glutathione S-transferase omega 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:115,218,179...115,242,377
Ensembl chr14:115,217,879...115,251,435 		JBrowse link
G INA internexin neuronal intermediate filament protein alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,227,998...114,240,566
Ensembl chr14:114,227,993...114,240,558 		JBrowse link
G ITPRIP inositol 1,4,5-trisphosphate receptor interacting protein ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:115,243,035...115,278,137
Ensembl chr14:115,252,791...115,277,654 		JBrowse link
G LOC100157433 calcium homeostasis modulator protein 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,380,467...114,393,845
Ensembl chr14:114,380,479...114,385,694
Ensembl chr14:114,380,479...114,385,694 		JBrowse link
G MFSD13A major facilitator superfamily domain containing 13A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,454,507...113,478,699
Ensembl chr14:113,464,174...113,478,697 		JBrowse link
G MIR1307 microRNA mir-1307 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,325,624...114,325,703
Ensembl chr14:114,325,625...114,325,704 		JBrowse link
G NEURL1 neuralized E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,436,887...114,515,713
Ensembl chr14:114,437,045...114,516,721 		JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109 		JBrowse link
G PCGF6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,062,457...114,287,458
Ensembl chr14:114,249,820...114,287,434 		JBrowse link
G PDCD11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,327,583...114,382,002
Ensembl chr14:114,327,625...114,379,179 		JBrowse link
G SFR1 SWI5 dependent homologous recombination repair protein 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:115,064,955...115,073,856
Ensembl chr14:115,065,057...115,073,855 		JBrowse link
G SFXN2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,707,659...113,733,832
Ensembl chr14:113,707,824...113,733,821 		JBrowse link
G SH3PXD2A SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,515,459...114,777,251
Ensembl chr14:114,519,928...114,777,238 		JBrowse link
G SLK STE20 like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,898,963...114,957,494
Ensembl chr14:114,899,147...114,955,070 		JBrowse link
G SORCS3 sortilin related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:115,587,176...116,202,433
Ensembl chr14:115,587,821...116,198,106 		JBrowse link
G STN1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003 		JBrowse link
G TAF5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:114,304,563...114,321,624
Ensembl chr14:114,304,557...114,321,626 		JBrowse link
G TRIM8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,637,437...113,652,577
Ensembl chr14:113,636,832...113,652,372 		JBrowse link
G WBP1L WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr14:113,737,758...113,800,564
Ensembl chr14:113,737,763...113,800,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15406
    disease of cellular proliferation 7400
      Neoplasms by Histologic Type 5128
        Glandular and Epithelial Neoplasms 3622
          astroblastoma 286
            Primitive Neuroectodermal Tumors 194
              medulloblastoma 106
                desmoplastic/nodular medulloblastoma 34
Path 2
Term Annotations click to browse term
  disease 15406
    disease of anatomical entity 15099
      nervous system disease 13247
        central nervous system disease 11827
          brain disease 11108
            Brain Neoplasms 1341
              Supratentorial Neoplasms 477
                supratentorial cancer 477
                  cerebrum cancer 449
                    malignant astrocytoma 446
                      astroblastoma 286
                        Primitive Neuroectodermal Tumors 194
                          medulloblastoma 106
                            desmoplastic/nodular medulloblastoma 34
paths to the root