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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:Recurrent Respiratory Papillomatosis
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Accession:DOID:9002780 term browser browse the term
Definition:An autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction.
Synonyms:exact_synonym: JRRP;   Juvenile laryngeal papilloma;   Juvenile-onset recurrent respiratory papillomatosis;   Laryngeal papilloma, recurrent;   RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL;   Respiratory papillomatosis;   congenital juvenile recurrent respiratory papillomatosis
 primary_id: MESH:C535297
 alt_id: OMIM:618803;   RDO:0000328
For additional species annotation, visit the Alliance of Genome Resources.


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Recurrent Respiratory Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 antigen ISO protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr19:29,362,107...29,388,095
Ensembl chr19:29,367,455...29,388,095
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity ISO DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human)
DNA:polymorphism: :HLA-DQB1*0602(human)
RGD PMID:15336778, PMID:19861144 RGD:5147657, RGD:36174013 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta severity ISO DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL ClinVar
OMIM
PMID:1484767 NCBI chr11:71,091,197...71,144,969
Ensembl chr11:71,092,236...71,144,704
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) severity ISO DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr17:34,187,556...34,197,225
Ensembl chr17:34,187,553...34,197,225
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14437
    disease of anatomical entity 14032
      respiratory system disease 2787
        Respiratory Tract Infections 524
          Recurrent Respiratory Papillomatosis 7
Path 2
Term Annotations click to browse term
  disease 14437
    disease of anatomical entity 14032
      Urogenital Diseases 3993
        Female Urogenital Diseases and Pregnancy Complications 2005
          Female Urogenital Diseases 1710
            female reproductive system disease 1706
              uterine disease 476
                Uterine Neoplasms 436
                  Uterine Cervical Neoplasms 222
                    papillomavirus infectious disease 53
                      Recurrent Respiratory Papillomatosis 7
paths to the root