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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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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 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656 		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 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chr13:57,939,724...57,948,735
Ensembl chr13:55,389,406...55,398,419 		JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656 		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 IMP RGD PMID:17360473 RGD:1601201 NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon IMP RGD PMID:17360473 RGD:1601201
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Ctnnb1 catenin beta 1 IEP mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604 		JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665 		JBrowse link
G Defb5 defensin beta 5 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829 		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 ISO RGD PMID:15040115 RGD:8662355 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
nasal cavity adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:19903339 RGD:9014708 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315 		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 ISO DNA:amplification RGD PMID:23544055 RGD:8661654 NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:19950227 RGD:8547762 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		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 Abcb1a ATP binding cassette subfamily B member 1A severity ISO Nasal Type;protein:increased expression:nasal cavity (human) RGD PMID:18756548 RGD:8657087 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Cd274 CD274 molecule disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 9:67,679,502...67,747,226
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gpx3 glutathione peroxidase 3 treatment ISO associated with ethmoid sinus cancer and Neoplasm Metastasis RGD PMID:29496492 RGD:151708712 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Prdm1 PR/SET domain 1 disease_progression ISO RGD PMID:24438193 RGD:150530467 NCBI chr20:49,542,465...49,564,088
Ensembl chr20:47,959,858...47,981,488 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased expression:nasal cavity (human) RGD PMID:17225522 RGD:153298933 NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:86,205,148...86,276,178
Ensembl chr10:85,705,670...85,775,668 		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 IEP mRNA, Protein:increased expression RGD PMID:12419858 RGD:1599782 NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16178123 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		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 ISO RGD PMID:20970165 RGD:7421559 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20970165 RGD:7421559 NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658 		JBrowse link
G Tp53 tumor protein p53 treatment ISO DNA:mutations:cds: RGD PMID:22575263 PMID:23369851 RGD:8547763, RGD:8547764 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO RGD PMID:30120966 RGD:127285653 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    disease of cellular proliferation 7895
      Neoplasms by Site 7336
        Bone Neoplasms 714
          Skull Neoplasms 31
            Familial Osteoma of Cranial Vault 0
            Jaw Neoplasms + 11
            Nose Neoplasms + 20
            Orbital Neoplasms + 0
            Skull Base Neoplasms + 0
            skull cancer + 0
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      musculoskeletal system disease 8470
        connective tissue disease 5925
          bone disease 4372
            Bone Neoplasms 714
              Skull Neoplasms 31
                Familial Osteoma of Cranial Vault 0
                Jaw Neoplasms + 11
                Nose Neoplasms + 20
                Orbital Neoplasms + 0
                Skull Base Neoplasms + 0
                skull cancer + 0
paths to the root