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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:Skull Neoplasms
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Accession:DOID:9001331 term browser browse the term
Definition:Neoplasms of the bony part of the skull.
Synonyms:exact_synonym: Skull Neoplasm
 primary_id: MESH:D012888


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cavernous sinus meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHFR dihydrofolate reductase IAGP ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 5:80,626,226...80,654,983
Ensembl chr 5:80,626,226...80,654,983 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G MSH3 mutS homolog 3 IAGP ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815 		JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613 		JBrowse link
G CDC73 cell division cycle 73 IAGP
EXP		 ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
Jaw Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO RGD PMID:17360473 RGD:1601201 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
Mandibular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CTNNB1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DEFB1 defensin beta 1 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936 		JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 		JBrowse link
Maxillary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
maxillary sinus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IEP RGD PMID:15040115 RGD:8662355 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
nasal cavity adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLU clusterin IEP RGD PMID:19903339 RGD:9014708 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700 		JBrowse link
nasal cavity cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX2 SRY-box transcription factor 2 IAGP DNA:amplification RGD PMID:23544055 RGD:8661654 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G TP53 tumor protein p53 IAGP RGD PMID:19950227 RGD:8547762 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
nasal type extranodal NK/T-cell lymphoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 severity IEP Nasal Type;protein:increased expression:nasal cavity (human) RGD PMID:18756548 RGD:8657087 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G CD274 CD274 molecule disease_progression IEP associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G CFLAR CASP8 and FADD like apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 2:201,116,164...201,176,687
Ensembl chr 2:201,116,154...201,176,687 		JBrowse link
G FAS Fas cell surface death receptor IAGP DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G GPX3 glutathione peroxidase 3 treatment IEP associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988 		JBrowse link
G JAK3 Janus kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071 		JBrowse link
G PRDM1 PR/SET domain 1 disease_progression IEP RGD PMID:24438193 RGD:150530467 NCBI chr 6:105,992,690...106,109,938
Ensembl chr 6:105,993,463...106,109,939 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
Nose Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMBT1 deleted in malignant brain tumors 1 ISO mRNA, Protein:increased expression RGD PMID:12419858 RGD:1599782 NCBI chr10:122,560,754...122,643,736
Ensembl chr10:122,560,665...122,643,736 		JBrowse link
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16178123 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
paranasal sinus benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 IEP RGD PMID:20970165 RGD:7421559 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393 		JBrowse link
G ANXA2 annexin A2 disease_progression IEP RGD PMID:20970165 RGD:7421559 NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883 		JBrowse link
G TP53 tumor protein p53 treatment IAGP DNA:mutations:cds: RGD PMID:22575263 PMID:23369851 RGD:8547763, RGD:8547764 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538 		JBrowse link
sinonasal undifferentiated carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAML3 mastermind like transcriptional coactivator 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 4:139,716,753...140,154,184
Ensembl chr 4:139,716,753...140,154,184 		JBrowse link
G PAX3 paired box 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IEP RGD PMID:30120966 RGD:127285653 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      Neoplasms by Site 8912
        Bone Neoplasms 1243
          Skull Neoplasms 31
            Familial Osteoma of Cranial Vault 0
            Jaw Neoplasms + 8
            Nose Neoplasms + 20
            Orbital Neoplasms + 0
            Skull Base Neoplasms + 3
            skull cancer + 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11641
        connective tissue disease 7446
          bone disease 5601
            Bone Neoplasms 1243
              Skull Neoplasms 31
                Familial Osteoma of Cranial Vault 0
                Jaw Neoplasms + 8
                Nose Neoplasms + 20
                Orbital Neoplasms + 0
                Skull Base Neoplasms + 3
                skull cancer + 3
paths to the root