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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 molecule ISO protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,047...216,792,724
JBrowse link
G FOXP3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,782...43,328,735
JBrowse link
G NLRP1 NLR family pyrin domain containing 1 ISO OMIM NCBI chr12:51,479,968...51,495,540 JBrowse link
G PDCD1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member severity ISO DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,773...25,071,862
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13598
    disease of anatomical entity 13257
      respiratory system disease 2616
        Respiratory Tract Infections 487
          Recurrent Respiratory Papillomatosis 5
Path 2
Term Annotations click to browse term
  disease 13598
    disease of anatomical entity 13257
      Urogenital Diseases 3793
        Female Urogenital Diseases and Pregnancy Complications 1929
          Female Urogenital Diseases 1648
            female reproductive system disease 1644
              uterine disease 450
                Uterine Neoplasms 410
                  Uterine Cervical Neoplasms 207
                    papillomavirus infectious disease 48
                      Recurrent Respiratory Papillomatosis 5
paths to the root