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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 inheritane 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: OMIM:300650
 xref: ICD10CM:E70.3;   ORDO:352740
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISS MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    sensory system disease 7132
      eye disease 3308
        ocular albinism 11
          ocular albinism with sensorineural deafness 3
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Neurologic Manifestations 10112
          sensory system disease 7132
            skin disease 4324
              pigmentation disease 493
                Hypopigmentation 169
                  Albinism 112
                    ocular albinism 11
                      ocular albinism with sensorineural deafness 3
paths to the root