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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 chrNW_004955434:9,487,309...9,508,366
Ensembl chrNW_004955434:9,487,315...9,505,904
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chrNW_004955542:49,290...57,747
Ensembl chrNW_004955542:49,259...58,823
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 chrNW_004955437:1,504,549...1,511,110
Ensembl chrNW_004955437:1,504,947...1,511,097
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12356
      respiratory system disease 2427
        Respiratory Tract Infections 428
          Recurrent Respiratory Papillomatosis 4
Path 2
Term Annotations click to browse term
  disease 12678
    disease of anatomical entity 12356
      Urogenital Diseases 3579
        Female Urogenital Diseases and Pregnancy Complications 1839
          Female Urogenital Diseases 1575
            female reproductive system disease 1571
              uterine disease 432
                Uterine Neoplasms 394
                  Uterine Cervical Neoplasms 198
                    papillomavirus infectious disease 42
                      Recurrent Respiratory Papillomatosis 4
paths to the root