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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:Hyalohyphomycosis
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Accession:DOID:9007316 term browser browse the term
Definition:OPPORTUNISTIC INFECTIONS caused by a heterogeneous group of MITOSPORIC FUNGI with clear (hyalo-) HYPHAE in the host. Common causative agents include ACREMONIUM; ASPERGILLUS; CHRYSOSPORIUM; FUSARIUM; PAECILOMYCES; PENICILLIUM; PSEUDALLESCHERIA; SCEDOSPORIUM; and SCOPULARIOPSIS. Normally a dermatomycoses, it can become invasive in the IMMUNOCOMPROMISED HOST.
Synonyms:exact_synonym: Cutaneous Hyalohyphomycoses;   Cutaneous Hyalohyphomycosis;   Disseminated Hyalohyphomycoses;   Disseminated Hyalohyphomycosis;   Hyalohyphomycoses;   Invasive Hyalohyphomycoses;   Invasive Hyalohyphomycosis;   Pulmonary Hyalohyphomycoses;   Pulmonary Hyalohyphomycosis;   Splenic Hyalohyphomycoses;   Splenic Hyalohyphomycosis;   Subcutaneous Hyalohyphomycoses;   Subcutaneous Hyalohyphomycosis
 primary_id: MESH:D060605;   RDO:0009993
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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 chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:15951834 RGD:5688155 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:10946288 RGD:8661731
G Cftr CF transmembrane conductance regulator ISO DNA:mutations: : RGD PMID:11243954 RGD:4140482 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:7743671 RGD:8547590 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:8699818 RGD:7794730 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		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 chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human) RGD PMID:23278646 RGD:36049760 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with cystic fibrosis; DNA:polymorphisms: : RGD PMID:23278646 RGD:36049760 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G Tlr9 toll-like receptor 9 susceptibility ISO DNA:SNP:promoter:g.-1237T>C rs5743836 (human) RGD PMID:18275280, PMID:18936185 RGD:5130863, RGD:5130858 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8699818 RGD:7794730 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000 		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 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633 		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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO associated with Neutropenia;mRNA:increased expression:lung RGD PMID:19783686 RGD:5130908 NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017 		JBrowse link
G Ccr7 C-C motif chemokine receptor 7 ISO associated with Neutropenia RGD PMID:19783686 RGD:5130908 NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456 		JBrowse link
G Cd209 CD209 molecule ISO RGD PMID:21381282 RGD:5131183 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324 		JBrowse link
G Cftr CF transmembrane conductance regulator severity ISO RGD PMID:22135344 RGD:35673332 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676 		JBrowse link
G Clec1a C-type lectin domain family 1, member A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:29489751 NCBI chr 4:163,191,503...163,214,678
Ensembl chr 4:163,191,503...163,214,678 		JBrowse link
G Clec7a C-type lectin domain containing 7A susceptibility ISO ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19864674 PMID:20807886 PMID:24033266 NCBI chr 4:163,216,152...163,227,367
Ensembl chr 4:163,216,163...163,227,334 		JBrowse link
G Crp C-reactive protein treatment ISO RGD PMID:20879853 RGD:9495929 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713 		JBrowse link
G Il15 interleukin 15 ISO DNA:polymorphism (human) RGD PMID:16893395 RGD:4981337 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594 		JBrowse link
G Mbl1 mannose binding lectin 1 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr16:18,736,154...18,742,193
Ensembl chr16:18,736,154...18,742,193 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO RGD PMID:20064561 RGD:8694071 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G S100b S100 calcium binding protein B ISO DNA:SNP: :427C>T (human) RGD PMID:22114731 RGD:8695981 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856 		JBrowse link
G Tlr1 toll-like receptor 1 susceptibility ISO DNA:SNPs: :p.R80T, p.N248S (human) RGD PMID:16461792 RGD:4889535 NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA:increased expression:lung RGD PMID:19781388 RGD:4145322 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tlr6 toll-like receptor 6 susceptibility ISO DNA:SNP: :p.S249P (human) RGD PMID:16461792 RGD:4889535 NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446 		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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO RGD PMID:11160230 RGD:11528533 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 ISO protein:increased expression:lung RGD PMID:20926800 RGD:7483599 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001 		JBrowse link
G Ccr6 C-C motif chemokine receptor 6 disease_progression ISO RGD PMID:17379855 RGD:7483617 NCBI chr 1:53,063,380...53,087,519
Ensembl chr 1:53,065,025...53,087,474 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:17298426 RGD:5135501 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO RGD PMID:24054721 RGD:10450528 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547 		JBrowse link
G Cyp2c6v1 cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 treatment ISO DNA:polymorphisms:cds: RGD PMID:26861072 RGD:124713410 NCBI chr 1:147,713,879...147,814,410
Ensembl chr 1:147,713,892...147,888,007 		JBrowse link
G Elane elastase, neutrophil expressed ISO RGD PMID:24054721 RGD:10450528 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232 		JBrowse link
G Il17a interleukin 17A severity ISO RGD PMID:21807912 RGD:8698654 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786 		JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:SNP:exon:rs5030737(human) RGD PMID:17311505 RGD:8693758 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		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:30275011, PMID:28487045 RGD:38501097, RGD:38508892 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653 		JBrowse link
G S100b S100 calcium binding protein B ISO RGD PMID:21423669 RGD:5508765 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856 		JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:16113258 RGD:8553022 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:18275280 RGD:5130863 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052 		JBrowse link
Invasive Pulmonary Aspergillosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 treatment IDA RGD PMID:12917249 RGD:11528529 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Cd209 CD209 molecule susceptibility ISO DNA:SNPs:3'utr,intron:multiple RGD PMID:22384201 RGD:39938996 NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324 		JBrowse link
G Fgf2 fibroblast growth factor 2 treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:polymorphism, haplotype:promoter:-889C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta ISO DNA:polymorphism, haplotype: :-511C>T (human) RGD PMID:18484169 RGD:4142867 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 IEP protein:increased expression:respiratory system fluid/secretion, serum RGD PMID:24360996 RGD:40903005 NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579 		JBrowse link
G Mbl2 mannose binding lectin 2 treatment ISO RGD PMID:17335555 RGD:8693746 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962 		JBrowse link
G Ptx3 pentraxin 3 susceptibility
no_association		 ISO DNA:SNP:intron:rs1840680 (human)
DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
protein:increased expression:plasma
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)		 RGD PMID:29020397, PMID:29020397, PMID:29020397, PMID:29964232 RGD:38501098, RGD:38501098, RGD:38501098, RGD:38508894 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653 		JBrowse link
G Vegfa vascular endothelial growth factor A treatment ISO RGD PMID:23303813 RGD:8655596 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		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 chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      skin disease 2741
        Infectious Skin Diseases 199
          dermatomycosis 51
            Hyalohyphomycosis 39
              Alternariosis 0
              Cerebral Phaeohyphomycosis 0
              aspergillosis + 39
              fusariosis 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            Infectious Skin Diseases 199
              dermatomycosis 51
                Hyalohyphomycosis 39
                  Alternariosis 0
                  Cerebral Phaeohyphomycosis 0
                  aspergillosis + 39
                  fusariosis 0
paths to the root