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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 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:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
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 6:32,578,769...32,589,848
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:1484767 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,427...5,619,424
JBrowse link
G PDCD1 programmed cell death 1 IEP RGD PMID:22322668 RGD:40822813 NCBI chr 2:241,849,881...241,858,908
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 19960
    disease of anatomical entity 18570
      respiratory system disease 3064
        Respiratory Tract Infections 536
          Recurrent Respiratory Papillomatosis 10
Path 2
Term Annotations click to browse term
  disease 19960
    disease of anatomical entity 18570
      Urogenital Diseases 4732
        Female Urogenital Diseases and Pregnancy Complications 2181
          Female Urogenital Diseases 1871
            female reproductive system disease 1867
              uterine disease 498
                Uterine Neoplasms 458
                  Uterine Cervical Neoplasms 229
                    papillomavirus infectious disease 57
                      Recurrent Respiratory Papillomatosis 10
paths to the root