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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


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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 IEP protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566 		JBrowse link
G FOXP3 forkhead box P3 susceptibility IAGP DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP 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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 severity IAGP DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IL32 interleukin 32 IEP mRNA:decreased expression:blood serum (human) RGD PMID:24015634 RGD:150340746 NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192 		JBrowse link
G KIR2DS1 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 1 severity IAGP RGD PMID:19861144 RGD:36174013
G KIR2DS5 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 severity IAGP RGD PMID:19861144 RGD:36174013
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 severity IAGP RGD PMID:19861144 RGD:36174013
G NLRP1 NLR family pyrin domain containing 1 IAGP ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital ClinVar
OMIM		 PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G PDCD1 programmed cell death 1 IEP RGD PMID:22322668 RGD:40822813 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member severity IAGP DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      respiratory system disease 4145
        Respiratory Tract Infections 572
          Recurrent Respiratory Papillomatosis 11
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      Urogenital Diseases 6480
        Female Urogenital Diseases and Pregnancy Complications 3025
          Female Urogenital Diseases 2492
            female reproductive system disease 2489
              uterine disease 594
                Uterine Neoplasms 540
                  Uterine Cervical Neoplasms 264
                    papillomavirus infectious disease 89
                      Recurrent Respiratory Papillomatosis 11
paths to the root