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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:berylliosis
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Accession:DOID:10322 term browser browse the term
Definition:A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. (DO)
Synonyms:exact_synonym: beryllioses;   beryllium disease;   beryllium poisoning
 primary_id: MESH:D001607
 xref: ICD10CM:J63.2
For additional species annotation, visit the Alliance of Genome Resources.


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berylliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:10194187 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Btnl2 butyrophilin-like 2 susceptibility ISO DNA:SNP: :rs3117099(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17927685 PMID:17927685 RGD:9685029 NCBI chr20:4,490,904...4,502,557
Ensembl chr20:4,489,517...4,503,341 		JBrowse link
G Ccr5 C-C motif chemokine receptor 5 disease_progression ISO DNA:polymorphisms:5' utr:multiple (human) RGD PMID:20075058 RGD:4892065 NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260 		JBrowse link
G Cd28 Cd28 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:12952926 NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685 		JBrowse link
G Gclm glutamate cysteine ligase, modifier subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16766924 NCBI chr 2:210,347,482...210,367,537
Ensembl chr 2:210,347,482...210,367,535 		JBrowse link
G Hmox1 heme oxygenase 1 ISO protein:increased activity:sputum RGD PMID:19453654 RGD:4145349 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8977230 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8428540 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16272364 PMID:17927685 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 severity ISO DNA:polymorphisms: :-509C>T (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15750822 PMID:17785866 PMID:17785866 RGD:4145294 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8428540 PMID:12449171 PMID:15127972 PMID:16980557 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Occupational Diseases 118
      pneumoconiosis 75
        berylliosis 11
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          allergic disease 599
            Immediate Hypersensitivity 454
              respiratory allergy 388
                berylliosis 11
paths to the root