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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:otosclerosis
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Accession:DOID:12185 term browser browse the term
Definition:An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. (DO)
Synonyms:exact_synonym: OTS;   otoscleroses;   otospongioses;   otospongiosis
 primary_id: MESH:D010040
 xref: ICD10CM:H80.80;   ICD9CM:387.8;   NCI:C185242;   OMIM:PS166800;   ORDO:2794
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
otosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen no_association ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.M235T (rs699) (human)		 RGD PMID:18491423 PMID:19503013 RGD:8548860, RGD:8548871 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO DNA:SNP:3'UTR:rs3178250(human) RGD PMID:18021008 RGD:8698669 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:missense mutation:cds:p.A152V,rs17563(human)
DNA:polymorphism:cds:p.N150K(human)		 RGD PMID:18021008 PMID:24492129 RGD:8698669, RGD:8699491 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:17489845 RGD:8552658 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B*35, HLA-B*51 (human, Tunisian) RGD PMID:22471616 RGD:7364875 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs, silent mutation:intron, cds: (rs731236, rs1544410, rs7975232) (human)
DNA:missense mutation:cds: (rs2228570) (human)		 RGD PMID:23639864 PMID:23639864 RGD:8157627, RGD:8157627 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
otosclerosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl1 forkhead box L1 ISO ClinVar Annotator: match by term: Otosclerosis 11 OMIM
ClinVar		 PMID:34633540 NCBI chr19:49,197,269...49,200,682
Ensembl chr19:49,197,400...49,198,425 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6960
      auditory system disease 993
        inner ear disease 668
          otosclerosis 7
            otosclerosis 1 0
            otosclerosis 10 0
            otosclerosis 11 1
            otosclerosis 2 0
            otosclerosis 3 0
            otosclerosis 4 0
            otosclerosis 5 0
            otosclerosis 7 0
            otosclerosis 8 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          sensory system disease 6960
            Otorhinolaryngologic Diseases 1739
              auditory system disease 993
                inner ear disease 668
                  otosclerosis 7
                    otosclerosis 1 0
                    otosclerosis 10 0
                    otosclerosis 11 1
                    otosclerosis 2 0
                    otosclerosis 3 0
                    otosclerosis 4 0
                    otosclerosis 5 0
                    otosclerosis 7 0
                    otosclerosis 8 0
paths to the root