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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:opportunistic mycosis
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Accession:DOID:2473 term browser browse the term
Definition:A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. (DO)
Synonyms:exact_synonym: opportunistic mycoses;   opportunistic systemic mycoses
 xref: ICD9CM:118
For additional species annotation, visit the Alliance of Genome Resources.



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allergic bronchopulmonary aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL17 C-C motif chemokine ligand 17 ISO associated with Cystic Fibrosis RGD PMID:17898016 RGD:4145612 NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
JBrowse link
G CFTR CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IL1A interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human)
DNA:SNP:intron:1011G>A(human)
RGD PMID:11474427 PMID:16487239 RGD:4889577 RGD:8693711 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G TLR9 toll like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) RGD PMID:18275280 PMID:18936185 RGD:5130858 RGD:5130863 NCBI chr13:34,353,444...34,370,990
Ensembl chr13:34,349,609...34,357,673
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A susceptibility ISO DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) RGD PMID:20646338 RGD:5131174 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
JBrowse link
aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO DNA:SNP:promoter:-374T>A (human) RGD PMID:22114731 RGD:8695981 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
JBrowse link
G CCR7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr12:21,857,286...21,869,211
Ensembl chr12:21,857,286...21,872,475
JBrowse link
G CD209 CD209 molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G CFTR CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G CLEC1A C-type lectin domain family 1 member A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to OMIM
ClinVar
PMID:29489751 NCBI chr 5:61,849,042...61,870,288
Ensembl chr 5:61,849,253...61,868,049
JBrowse link
G CLEC7A C-type lectin domain containing 7A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to ClinVar
OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
JBrowse link
G CRP C-reactive protein, pentraxin-related treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G IL15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr 8:85,666,963...85,740,980
Ensembl chr 8:85,667,321...85,678,461
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G S100B S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981
G TLR1 toll like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR6 toll like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr 8:30,159,744...30,180,650
Ensembl chr 8:30,159,754...30,180,650
JBrowse link
Autoinflammatory Disease, Familial, Behcet-Like-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELA RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More... NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
Candidemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB2 EPH receptor B2 exacerbates ISO RGD PMID:33685996 RGD:127229905 NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
JBrowse link
G PCD1B CD1B antigen ameliorates ISO associated with endotoxemia RGD PMID:32154791 RGD:127345119 NCBI chr 4:92,035,122...92,040,724
Ensembl chr 4:92,031,712...92,040,742
JBrowse link
candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIRE autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12050215 NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532
JBrowse link
G CHRM2 cholinergic receptor muscarinic 2 ISO RGD PMID:19958780 RGD:5509581 NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:22661085 RGD:40400896 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G LTF lactotransferrin ISO RGD PMID:17922408 RGD:7243948 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ameliorates ISO RGD PMID:28112734 RGD:150340684 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 disease_progression ISO RGD PMID:27736647 RGD:40818241 NCBI chr 6:59,092,258...59,099,992
Ensembl chr 6:59,092,911...59,099,990
JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 exacerbates ISO RGD PMID:30944411 RGD:127229913 NCBI chr 7:74,951,145...74,955,255
Ensembl chr 7:74,951,145...74,955,251
JBrowse link
Candidiasis, Familial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC7A C-type lectin domain containing 7A susceptibility ISO ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis ClinVar
OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
JBrowse link
Candidiasis, Familial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17F interleukin 17F ISO ClinVar Annotator: match by term: Candidiasis, familial, 6 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 7:46,058,371...46,066,039
Ensembl chr 7:46,059,002...46,077,048
JBrowse link
Candidiasis, Familial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAF3IP2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 More... NCBI chr 1:77,483,997...77,541,557
Ensembl chr 1:77,487,577...77,541,198
JBrowse link
Candidiasis, Familial, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703
JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 More... NCBI chr13:66,179,298...66,194,750 JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,164,492...66,177,967 JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,154,855...66,158,329 JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Candidiasis, familial, 9 ClinVar PMID:28492532 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
chronic mucocutaneous candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC7A C-type lectin domain containing 7A ISO ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive ClinVar PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 NCBI chr 5:61,832,910...61,846,441
Ensembl chr 5:61,832,954...61,846,434
JBrowse link
G IL17RA interleukin 17 receptor A ISO ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) RGD PMID:31784499 RGD:150340677 NCBI chr14:88,988,914...89,108,875
Ensembl chr14:88,988,949...89,108,874
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis ClinVar PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 More... NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
cryptococcal meningitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD274 CD274 molecule treatment ISO RGD PMID:29058791 RGD:41412178 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO associated with HIV Infections;DNA:polymorphism:cds: RGD PMID:21592999 RGD:12910861 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:29058791 RGD:41412178 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
JBrowse link
cryptococcosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase exacerbates ISO RGD PMID:23820392 RGD:124715476 NCBI chr  X:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA, protein:increased expression:lung (mouse) RGD PMID:11714821 RGD:11528563 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:16552046 RGD:7248435 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD86 CD86 molecule ISO protein:increased expression:lung, dendritic cell (mouse) RGD PMID:16790753 RGD:4892554 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310
JBrowse link
G CHIA chitinase acidic ISO protein:increased expression:lung (rat) RGD PMID:18482441 RGD:4990459 NCBI chr 4:109,035,323...109,046,499
Ensembl chr 4:109,035,326...109,046,499
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G IL23A interleukin 23 subunit alpha severity ISO RGD PMID:16393998 PMID:22342846 RGD:39457936 RGD:39458042 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL33 interleukin 33 ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G IL4R interleukin 4 receptor ISO RGD PMID:18954266 RGD:4890005 NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
JBrowse link
G MARCO macrophage receptor with collagenous structure disease_progression ISO RGD PMID:28298522 RGD:41412191 NCBI chr15:24,502,935...24,541,286
Ensembl chr15:24,503,108...24,541,283
JBrowse link
G SFTPC surfactant protein C ISO mRNA:increased expression:lung (mouse) RGD PMID:27596810 RGD:38549345 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
encephalitozoonosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL21 interleukin 21 ISO protein:increased expression:CD4-positive helper T cell (mouse) RGD PMID:26597007 RGD:11086452 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
JBrowse link
Immunodeficiency 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CARD9 caspase recruitment domain family member 9 susceptibility ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS OMIM
ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 More...
G ENTR1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532
G PMPCA peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532
G SNAPC4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS ClinVar PMID:28492532
immunodeficiency 31C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL21R interleukin 21 receptor ISO ClinVar Annotator: match by term: Immunodeficiency 31C ClinVar PMID:25741868 NCBI chr 3:19,447,488...19,489,201
Ensembl chr 3:19,443,359...19,489,152
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 More... NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
immunodeficiency 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
JBrowse link
G ARVCF ARVCF delta catenin family member ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,403,215...51,440,036
Ensembl chr14:51,403,923...51,440,058
JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,752,644...69,772,038
Ensembl chr 5:69,747,700...69,771,990
JBrowse link
G BCL2L13 BCL2 like 13 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,779,290...69,846,638
Ensembl chr 5:69,778,950...69,855,272
JBrowse link
G BID BH3 interacting domain death agonist ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,849,007...69,874,647
Ensembl chr 5:69,849,002...69,875,853
JBrowse link
G C14H22orf39 chromosome 14 C22orf39 homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,106,984...51,112,385
Ensembl chr14:51,106,991...51,112,359
JBrowse link
G CDC45 cell division cycle 45 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
G CECR2 CECR2 histone acetyl-lysine reader ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,621,871...69,747,730
Ensembl chr 5:69,621,959...69,740,958
JBrowse link
G CLDN5 claudin 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,161,490...51,162,382
Ensembl chr14:51,161,042...51,163,482
JBrowse link
G COMT catechol-O-methyltransferase ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998
JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:50,881,260...50,935,603
Ensembl chr14:50,877,872...50,935,564
JBrowse link
G ESS2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:50,945,121...50,956,018
Ensembl chr14:50,945,122...50,955,983
JBrowse link
G GNB1L G protein subunit beta 1 like ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,306,561...51,343,040
Ensembl chr14:51,305,039...51,343,029
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,261,097...51,261,903
Ensembl chr14:51,260,963...51,262,114
JBrowse link
G GSC2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:50,956,315...50,960,424
Ensembl chr14:50,957,991...50,960,193
JBrowse link
G HDHD5 haloacid dehalogenase like hydrolase domain containing 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,499,891...69,512,559
Ensembl chr 5:69,500,285...69,512,611
JBrowse link
G HIRA histone cell cycle regulator ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,029,117...51,102,409
Ensembl chr14:51,029,126...51,102,409
JBrowse link
G IL17RA interleukin 17 receptor A ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 5:69,461,280...69,480,343
Ensembl chr 5:69,461,290...69,480,112
JBrowse link
G LOC110256626 proline dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,624,919...51,644,467 JBrowse link
G MICAL3 microtubule associated monooxygenase, calponin and LIM domain containing 3 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,887,884...70,132,969
Ensembl chr 5:69,887,892...70,059,494
JBrowse link
G MRPL40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,102,900...51,105,769
Ensembl chr14:51,102,613...51,105,767
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:70,133,024...70,142,515
Ensembl chr 5:70,133,024...70,142,503
JBrowse link
G RTL10 retrotransposon Gag like 10 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,338,134...51,342,383 JBrowse link
G SEPTIN5 septin 5 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,252,815...51,260,851
Ensembl chr14:51,252,815...51,261,244
JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:50,974,616...51,002,970
Ensembl chr14:50,974,617...50,978,039
JBrowse link
G TANGO2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,443,597...51,464,370
Ensembl chr14:51,443,638...51,464,367
JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G TMEM121B transmembrane protein 121B ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:69,484,204...69,488,489 JBrowse link
G TSSK2 testis specific serine kinase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:50,943,017...50,944,093
Ensembl chr14:50,943,017...50,944,093
JBrowse link
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:70,154,251...70,174,001
Ensembl chr 5:70,153,922...70,179,970
JBrowse link
G TXNRD2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,355,731...51,385,096
Ensembl chr14:51,356,831...51,383,262
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr14:51,113,858...51,132,820
Ensembl chr14:51,113,713...51,133,072
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 ClinVar PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
JBrowse link
invasive aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:21423669 RGD:5508765 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CCR6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:2,016,600...2,034,172
Ensembl chr 1:2,018,608...2,019,821
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYP2C49 cytochrome P450 2C49 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr14:106,571,803...106,612,082
Ensembl chr14:106,285,173...106,612,455
JBrowse link
G ELANE elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
JBrowse link
G GP91-PHOX NADPH oxidase heavy chain subunit ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:33,654,656...33,678,346
Ensembl chr  X:33,643,648...33,680,580
JBrowse link
G IL17A interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G PTX3 pentraxin 3 severity ISO DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527
protein:increased expression:bronchoalveolar lavage fluid (human)
RGD PMID:28487045 PMID:30275011 RGD:38501097 RGD:38508892 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G S100B S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765
G TLR2 toll like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
JBrowse link
Invasive Candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTX3 pentraxin 3 severity ISO associated with hematologic cancer;DNA:SNP:intron:rs1840680 RGD PMID:30275011 RGD:38501097 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 treatment ISO RGD PMID:12917249 RGD:11528529 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CD209 CD209 molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr 2:71,394,414...71,397,711
Ensembl chr 2:71,394,391...71,397,968
JBrowse link
G FGF2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
JBrowse link
G IL1A interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO protein:increased expression:respiratory system fluid/secretion, serum RGD PMID:24360996 RGD:40903005 NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867
G MBL2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G PTX3 pentraxin 3 susceptibility
no_association
ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
DNA:SNP:intron:rs1840680 (human)
protein:increased expression:plasma
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD PMID:29020397 PMID:29964232 RGD:38501098 RGD:38508894 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
JBrowse link
oral candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEBPB CCAAT enhancer binding protein beta susceptibility ISO RGD PMID:26317211 RGD:11079756 NCBI chr17:51,722,633...51,723,673
Ensembl chr17:51,722,426...51,724,305
JBrowse link
G IL23A interleukin 23 subunit alpha severity ISO RGD PMID:19204111 RGD:39457957 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G LCN2 lipocalin 2 no_association ISO mRNA:increased expression:tongues: RGD PMID:24343647 RGD:126725083 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
JBrowse link
G ZC3H12A zinc finger CCCH-type containing 12A ISO RGD PMID:26320658 RGD:11534569 NCBI chr 6:93,541,334...93,551,200
Ensembl chr 6:93,541,334...93,551,193
JBrowse link
pneumocystosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AZIN1 antizyme inhibitor 1 ISO mRNA:increased expression:alveolar macrophage RGD PMID:19158080 RGD:14700806 NCBI chr 4:34,221,368...34,257,261
Ensembl chr 4:34,234,679...34,257,134
JBrowse link
G C3 complement C3 ISO RGD PMID:17169032 RGD:5129525 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20618689 RGD:4891428 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:10968950 RGD:8547797 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CSF2 colony stimulating factor 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:19487471 RGD:5131475 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
JBrowse link
G IL23A interleukin 23 subunit alpha ISO RGD PMID:17403873 RGD:39458043 NCBI chr 5:21,732,416...21,733,981
Ensembl chr 5:21,732,165...21,734,267
JBrowse link
G IL33 interleukin 33 treatment ISO RGD PMID:21220696 RGD:40400892 NCBI chr 1:215,899,830...215,941,944
Ensembl chr 1:215,899,436...215,941,840
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:serum RGD PMID:9617869 RGD:5131424 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NOS2 nitric oxide synthase 2 ISO mRNA:increased expression:alveolar macrophage
protein:decreased dimerization:alveolar macrophage
RGD PMID:20377877 PMID:20558778 RGD:4144112 RGD:4891486 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G SFTPA1 surfactant protein A1 ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396
JBrowse link
G SFTPC surfactant protein C ISO protein:decreased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095
JBrowse link
G SFTPD surfactant protein D ISO protein:increased expression:lung RGD PMID:11385364 RGD:4143431 NCBI chr14:82,051,400...82,069,258
Ensembl chr14:82,051,451...82,067,976
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:18400546 RGD:4145341 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
pulmonary aspergilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTX3 pentraxin 3 ISO protein:increased expression:bronchoalveolar lavage fluid, plasma (human) RGD PMID:29964232 RGD:38508894 NCBI chr13:97,273,594...97,279,570
Ensembl chr13:97,273,594...97,279,569
JBrowse link
Systemic Candidiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPO myeloperoxidase severity ISO RGD PMID:12085336 RGD:40903072 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G TNF tumor necrosis factor ISO mRNA, protein:increased expression:spleen, plasma RGD PMID:11562071 RGD:10449457 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
JBrowse link
vulvovaginal candidiasis 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 ISO associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human) RGD PMID:18243333 RGD:150523783 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G IDO1 indoleamine 2,3-dioxygenase 1 ISO RGD PMID:23853597 RGD:39938863 NCBI chr17:9,245,283...9,260,140
Ensembl chr17:9,245,196...9,260,473
JBrowse link
G LTF lactotransferrin ISO CTD Direct Evidence: therapeutic CTD PMID:16640825 NCBI chr13:29,413,886...29,445,751
Ensembl chr13:29,413,886...29,445,739
JBrowse link
G MBL2 mannose binding lectin 2 ISO DNA:SNP:cds: RGD PMID:17470593 RGD:8693700 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease by infectious agent 2089
      parasitic infectious disease 298
        Opportunistic Infections 127
          opportunistic mycosis 124
            aspergillosis + 36
            candidiasis + 74
            cryptococcosis + 14
            fusariosis 0
            geotrichosis 0
            maple bark strippers' lung 0
            microsporidiosis + 1
            mucormycosis 0
            penicilliosis 0
            pneumocystosis 14
            trichosporonosis 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease by infectious agent 2089
      Bacterial Infections and Mycoses 997
        fungal infectious disease 154
          systemic mycosis 133
            opportunistic mycosis 124
              aspergillosis + 36
              candidiasis + 74
              cryptococcosis + 14
              fusariosis 0
              geotrichosis 0
              maple bark strippers' lung 0
              microsporidiosis + 1
              mucormycosis 0
              penicilliosis 0
              pneumocystosis 14
              trichosporonosis 0
paths to the root