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ocular albinism with sensorineural deafness - Ontology Report - Rat Genome Database

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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:ocular albinism with sensorineural deafness
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Accession:DOID:0090100 term browser browse the term
Definition:An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritance of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. (DO)
Synonyms:exact_synonym: OASD;   WS2-OA;   autosomal recessive Waardenburg syndrome type 2, with ocular albinism;   autosomal recessive Waardenburg syndrome type II, with ocular albinism;   deafness and ocular albinism;   digenic Waardenburg syndrome type 2A with ocular albinism;   digenic Waardenburg syndrome/albinism;   digenic Waardenburg syndrome/ocular albinism;   ocular albinism with late-onset sensorineural deafness;   ocular albinism, late-onset sensorineural deafness
 primary_id: MESH:C537043
 alt_id: MIM:300650
 xref: ICD10CM:E70.3;   ORDO:352740

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ocular albinism with sensorineural deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO OMIM:103470 MouseDO NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445 		JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1676041 PMID:1899321 PMID:1903591 More... NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    sensory system disease 7070
      auditory system disease 1013
        inner ear disease 687
          sensorineural hearing loss 599
            ocular albinism with sensorineural deafness 3
Path 2
Term Annotations click to browse term
  disease 15835
    Pathological Conditions, Signs and Symptoms 12339
      Signs and Symptoms 10388
        Neurologic Manifestations 10069
          sensory system disease 7070
            skin disease 4133
              pigmentation disease 286
                Hypopigmentation 166
                  Albinism 110
                    ocular albinism 1 8
                      ocular albinism with sensorineural deafness 3
paths to the root