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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:1970634, PMID:5516239, PMID:9242509, PMID:11284711, PMID:12753405, PMID:13680365, PMID:15146472, PMID:18463683, PMID:18590551, PMID:18821858, PMID:19060277, PMID:19208379, PMID:19320745, PMID:19865097, PMID:20861488, PMID:21906913, PMID:22734612, PMID:23504663, 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 16058
    sensory system disease 5213
      eye disease 2652
        ocular albinism 10
          ocular albinism with sensorineural deafness 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            pigmentation disease 244
              Hypopigmentation 103
                Albinism 48
                  ocular albinism 10
                    ocular albinism with sensorineural deafness 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.