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 characterized by ocular albinism, deafness and vestibular dysfunction that has_material_basis_in mutations in the MITF gene on chromosome 3p13 and at least one other gene. The second gene mutation has been reported to be in the gene TYR on chromosome 11q14.3 and in the gene TYRP1 on chromosome 9p23. (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;   Waardenburg Syndrome, Type Ii, With Ocular Albinism, Autosomal Recessive;   Ws2-Oa;   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

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Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      auditory system disease 662
        inner ear disease 466
          sensorineural hearing loss 428
            ocular albinism with sensorineural deafness 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            pigmentation disease 212
              Hypopigmentation 103
                Albinism 51
                  ocular albinism 6
                    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.