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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant keratitis-ichthyosis-deafness syndrome
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Accession:DOID:0060871 term browser browse the term
Definition:An autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO)
Synonyms:exact_synonym: KID syndrome;   Keratitis, Ichthyosis, and Deafness (KID) Syndrome;   autosomal dominant KID syndrome
 primary_id: MESH:C536168;   RDO:0001636
 alt_id: OMIM:148210
 xref: ORDO:477
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autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7364809
RGD:7364811
RGD:7364813
RGD:7364889
RGD:7240710
RGD:7364885
RGD:8554872

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  disease 14759
    syndrome 4210
      autosomal dominant keratitis-ichthyosis-deafness syndrome 1
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          Otorhinolaryngologic Diseases 1035
            auditory system disease 660
              Hearing Disorders 549
                Hearing Loss 545
                  Deafness 256
                    autosomal dominant keratitis-ichthyosis-deafness syndrome 1
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