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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 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:84,004,004...84,101,226
Ensembl chr 9:84,005,183...84,101,172
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:9242509 PMID:11284711 PMID:13680365 PMID:15146472 PMID:18463683 PMID:18821858 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19865097 PMID:20861488 PMID:21906913 PMID:22734612 PMID:24033266 PMID:24123366 PMID:25216246 PMID:25741868 PMID:26167114 PMID:26818737 PMID:27775880 PMID:27887888 PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        ocular albinism 9
          ocular albinism with sensorineural deafness 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            pigmentation disease 241
              Hypopigmentation 102
                Albinism 47
                  ocular albinism 9
                    ocular albinism with sensorineural deafness 3
paths to the root