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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;   RDO:0005918
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
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 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 ClinVar PMID:25637381 NCBI chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
ClinVar
OMIM
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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 chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Ctnnb1 catenin beta 1 IEP mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
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 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
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 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:19950227 RGD:8547762 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Cd274 CD274 molecule disease_progression ISO associated with Epstein-Barr Virus Infections RGD PMID:27595782 RGD:41412182 NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:15924153 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Fas Fas cell surface death receptor ISO DNA:insertion, deletions:cds:multiple (human) RGD PMID:12466128 RGD:8662407 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Jak3 Janus kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22705984 PMID:23689514 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29200404 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
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 1:201,620,642...201,689,905
NCBI chr 1:203,149,414...203,228,705
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16178123 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Anxa2 annexin A2 disease_progression ISO RGD PMID:20970165 RGD:7421559 NCBI chr 8:75,687,134...75,723,589
Ensembl chr 8:75,687,100...75,723,594
JBrowse link
G Tp53 tumor protein p53 treatment ISO DNA:mutations:cds: RGD PMID:22575263, PMID:23369851 RGD:8547763, RGD:8547764 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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 2:140,734,138...141,276,886 JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859338 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO RGD PMID:30120966 RGD:127285653 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of cellular proliferation 6946
      Neoplasms by Site 6588
        Bone Neoplasms 691
          Skull Neoplasms 30
            Familial Osteoma of Cranial Vault 0
            Jaw Neoplasms + 10
            Nose Neoplasms + 17
            Orbital Neoplasms + 0
            Skull Base Neoplasms + 3
            skull cancer + 3
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      musculoskeletal system disease 6419
        connective tissue disease 4426
          bone disease 3110
            Bone Neoplasms 691
              Skull Neoplasms 30
                Familial Osteoma of Cranial Vault 0
                Jaw Neoplasms + 10
                Nose Neoplasms + 17
                Orbital Neoplasms + 0
                Skull Base Neoplasms + 3
                skull cancer + 3
paths to the root