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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:Basal Cell Neoplasms
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Accession:DOID:9003929 term browser browse the term
Definition:Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale.
Synonyms:exact_synonym: basal cell neoplasm
 primary_id: MESH:D018295
 alt_id: RDO:0002170
 xref: EFO:1001763


show annotations for term's descendants           Sort by:
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:25080371 PMID:26719535 RGD:9586038 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar PMID:8275088 PMID:18446851 PMID:24038909 PMID:24274751 PMID:25741868 More... NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 Ensembl chr 5:1,361,571...1,388,415 JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr20:19,992,092...20,010,809
Ensembl chr20:19,959,356...19,979,094 		JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G HHIP hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 RGD:11552592 NCBI chr 4:136,989,818...137,085,407
Ensembl chr 4:148,651,597...148,744,619 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KRT5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105 		JBrowse link
G LOC100976433 keratin, type I cytoskeletal 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079 		JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr16:70,676,447...70,697,636 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human)		 RGD PMID:19384953 PMID:21270109 RGD:9491840 RGD:9491841 NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:15466987 PMID:22436579 RGD:8657137 RGD:8657158 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:96,267,918...96,311,159
Ensembl chr 9:124,783,173...124,825,877 		JBrowse link
G PTCH1 patched 1 disease_progression ISO mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 | ClinVar Annotator: match by term: PTCH2-related condition		 RGD
ClinVar
OMIM		 PMID:8782823 PMID:8840969 PMID:9620294 PMID:10504535 PMID:11231326 More... RGD:12801453 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition OMIM
ClinVar		 PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055 		JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:189,925,706...190,120,232
Ensembl chr 1:194,780,068...194,887,798 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 OMIM
ClinVar		 PMID:8275088 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 More... NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565 		JBrowse link
G SMO smoothened, frizzled class receptor disease_progression ISO mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic		 RGD
OMIM
ClinVar		 PMID:9422511 PMID:10504535 PMID:19726788 PMID:22679179 PMID:25741868 More... RGD:12801453 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G STK19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094
G SUFU SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 ClinVar
OMIM		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G TYR tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
G VDR vitamin D receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin		 RGD PMID:15077124 PMID:22213323 RGD:8158063 RGD:8158076 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037 		JBrowse link
G XRCC5 X-ray repair cross complementing 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr2B:103,371,459...103,468,419
Ensembl chr2B:221,972,742...222,071,235 		JBrowse link
G XRCC6 X-ray repair cross complementing 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr22:22,516,281...22,557,379
Ensembl chr22:40,603,038...40,643,314 		JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
Multiple Basal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201 		JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,271,620...99,312,784
Ensembl chr10:102,735,325...102,775,849 		JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,431,762...99,439,619
Ensembl chr10:102,896,376...102,901,514 		JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome | ClinVar Annotator: match by term: Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies		 ClinVar PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055 		JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G SFXN2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,312,883...99,341,931
Ensembl chr10:102,775,965...102,801,323 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 ClinVar PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
G TRIM8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,242,187...99,256,342
Ensembl chr10:102,707,199...102,720,565 		JBrowse link
G WBP1L WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:99,342,361...99,417,504
Ensembl chr10:102,806,022...102,880,936 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:20301330 PMID:25741868 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
pilomatrixoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma OMIM
ClinVar		 PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma ClinVar PMID:186631 PMID:11801590 PMID:11818965 PMID:12606733 PMID:12917422 More... NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645 		JBrowse link
G OVOL1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr11:61,144,969...61,156,706
Ensembl chr11:64,478,549...64,488,647 		JBrowse link
G OVOL2 ovo like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr20:17,983,277...18,019,441
Ensembl chr20:17,962,123...17,994,486 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Histologic Type 5050
        Glandular and Epithelial Neoplasms 3549
          Basal Cell Neoplasms 53
            Trichofolliculoma 0
            basal cell carcinoma + 49
            basosquamous carcinoma 0
            pilomatrixoma 4
paths to the root