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: allergic bronchopulmonary aspergillosis
Accession: DOID:13166
browse the term
Definition: An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. (DO)
Synonyms: exact_synonym: allergic bronchopulmonary aspergilloses; pulmonary aspergillus disease
primary_id: MESH:D001229
alt_id: OMIM:103920
xref: EFO:0007140 ; GARD:602 ; ICD10CM:B44.81 ; ICD9CM:518.6 ; NCI:C84547
For additional species annotation, visit the
Alliance of Genome Resources .
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CCL17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
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CCR1
chemokine (C-C motif) receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
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CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
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CFTR
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr12:2,305,307...2,307,711
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HLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr12:2,151,409...2,164,564
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ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IL1A
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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MBL1
mannose binding lectin 1
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 4:29,419,886...29,424,377
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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 chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
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TNF
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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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 chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
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