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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:Infectious Bone Diseases
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Accession:DOID:9007047 term browser browse the term
Definition:Bone diseases caused by pathogenic microorganisms.
Synonyms:exact_synonym: Infectious Bone Disease
 primary_id: MESH:D001850



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ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing IEP protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G ANO6 anoctamin 6 severity IAGP
EXP
DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr12:45,216,095...45,440,404
Ensembl chr12:45,215,987...45,482,280
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
JBrowse link
G ASPN asporin susceptibility IAGP DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 9:92,456,205...92,482,506
Ensembl chr 9:92,456,205...92,482,506
JBrowse link
G CARD9 caspase recruitment domain family member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
JBrowse link
G CRP C-reactive protein disease_progression IEP protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33550689 NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703
JBrowse link
G FCGR3A Fc gamma receptor IIIa severity IEP protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility
no_association
IAGP
EXP
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:HLA-B2705 (human)
CTD
RGD
PMID:8053961 PMID:21743469 PMID:22138694 PMID:8733445 PMID:21927904 RGD:7364914, RGD:10755579 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 severity IAGP DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 IEP protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
JBrowse link
G IL12B interleukin 12B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
JBrowse link
G IL17A interleukin 17A treatment IMP RGD PMID:24035250 RGD:9068448 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G IL1R2 interleukin 1 receptor type 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 2:101,991,960...102,028,544
Ensembl chr 2:101,991,960...102,028,544
JBrowse link
G IL23R interleukin 23 receptor no_association IAGP
EXP
DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
CTD
RGD
PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility IAGP DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902
JBrowse link
G JAK2 Janus kinase 2 susceptibility IAGP DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KDM5A lysine demethylase 5A susceptibility IAGP DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G PGF placental growth factor IEP RGD PMID:21873332 RGD:6483576 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
JBrowse link
G PTGER4 prostaglandin E receptor 4 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
JBrowse link
G RUNX3 RUNX family transcription factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IAGP DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IAGP DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TBKBP1 TBK1 binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr17:47,694,063...47,712,063
Ensembl chr17:47,694,161...47,712,052
JBrowse link
G THBD thrombomodulin IEP protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G TLR4 toll like receptor 4 IEP mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR5 toll like receptor 5 IEP mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IDA RGD PMID:21317434 RGD:5131280 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
JBrowse link
G VIP vasoactive intestinal peptide IEP protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACYP2 acylphosphatase 2 IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:53,971,113...54,305,300
Ensembl chr 2:53,970,838...54,305,300
JBrowse link
G IL1R1 interleukin 1 receptor type 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 NCBI chr 5:1,294,628...1,298,988 JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase IAGP ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr16:74,671,855...74,700,862
Ensembl chr16:74,671,855...74,700,960
JBrowse link
G MYNN myoneurin IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:169,773,396...169,789,716
Ensembl chr 3:169,773,396...169,789,716
JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISS OMIM:259680 MouseDO NCBI chr18:45,983,536...46,072,260
Ensembl chr18:45,983,536...46,072,272
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038
JBrowse link
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1F10 interleukin 1 family member 10 IAGP ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 2:113,067,970...113,075,843
Ensembl chr 2:113,067,970...113,075,843
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar
OMIM
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
Chronic recurrent multifocal osteomyelitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1R1 interleukin 1 receptor type 1 IAGP ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3 OMIM
ClinVar
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EMILIN2 elastin microfibril interfacer 2 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr18:2,846,232...2,916,003
Ensembl chr18:2,847,006...2,916,003
JBrowse link
G LOC130062090 ATAC-STARR-seq lymphoblastoid active region 13029 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:2,957,039...2,957,098 JBrowse link
G LOC130062091 ATAC-STARR-seq lymphoblastoid active region 13030 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:2,957,974...2,958,133 JBrowse link
G LOC130062092 ATAC-STARR-seq lymphoblastoid active region 13031 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:2,960,318...2,960,417 JBrowse link
G LPIN2 lipin 2 IAGP
EXP
ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
JBrowse link
G MYL12A myosin light chain 12A IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,247,482...3,256,237
Ensembl chr18:3,247,481...3,256,236
JBrowse link
G MYL12B myosin light chain 12B IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,262,133...3,278,461
Ensembl chr18:3,261,479...3,278,461
JBrowse link
G MYOM1 myomesin 1 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
mastoiditis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRP C-reactive protein disease_progression IEP RGD PMID:22578647 RGD:9491592 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
JBrowse link
G TLR2 toll like receptor 2 IEP protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
JBrowse link
G TLR4 toll like receptor 4 IEP protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human) RGD PMID:18312480 RGD:11041747 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
JBrowse link
G DUSP1 dual specificity phosphatase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility IAGP DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MIR337 microRNA 337 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr14:100,874,493...100,874,585
Ensembl chr14:100,874,493...100,874,585
JBrowse link
G SKP2 S-phase kinase associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Spondylarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IMP RGD PMID:16575857 RGD:6482692 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism:cds:HLA-B*2714, B*2705 (human) RGD PMID:12889998 RGD:10755578 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 no_association IAGP RGD PMID:15603870 PMID:9496154 RGD:6483462, RGD:6483495 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
JBrowse link
G RUNX2 RUNX family transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    disease of anatomical entity 91157
      musculoskeletal system disease 21003
        bone disease 12636
          Infectious Bone Diseases 473
            osteomyelitis + 27
            periostitis + 4
            skeletal tuberculosis + 1
            spondylitis + 449
Path 2
Term Annotations click to browse term
  disease 97543
    disease of anatomical entity 91157
      musculoskeletal system disease 21003
        connective tissue disease 16001
          bone disease 12636
            Infectious Bone Diseases 473
              osteomyelitis + 27
              periostitis + 4
              skeletal tuberculosis + 1
              spondylitis + 449
paths to the root