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ONTOLOGY REPORT - ANNOTATIONS


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: Albinism Ocular Late Onset Sensorineural Deafness;   Albinism, Ocular, With Late-Onset Sensorineural Deafness;   Deafness and ocular albinism;   OASD;   WAARDENBURG SYNDROME, TYPE 2, WITH OCULAR ALBINISM, AUTOSOMAL RECESSIVE;   Ws2-Oa;   autosomal recessive Waardenburg syndrome type II, with ocular albinism;   digenic Waardenburg syndrome/albinism;   digenic Waardenburg syndrome/ocular albinism
 primary_id: MESH:C537043
 alt_id: OMIM:103470;   OMIM:300650;   RDO:0002801
 xref: ORDO:352740
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ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    sensory system disease 4681
      auditory system disease 684
        inner ear disease 495
          sensorineural hearing loss 459
            ocular albinism with sensorineural deafness 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          skin disease 2461
            pigmentation disease 212
              Hypopigmentation 102
                Albinism 48
                  ocular albinism 8
                    ocular albinism with sensorineural deafness 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.