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ONTOLOGY REPORT - ANNOTATIONS


Term:Keipert syndrome
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Accession:DOID:0111842 term browser browse the term
Definition:A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2. (DO)
Synonyms:exact_synonym: KPTS;   nasodigitoacoustic syndrome
 primary_id: MESH:C538337
 alt_id: DOID:9005356;   OMIM:301026
 xref: GARD:267;   ORDO:2662
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Keipert syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc4 glypican 4 JBrowse link X 139,354,325 139,464,876 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Keipert syndrome 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          Otorhinolaryngologic Diseases 1119
            auditory system disease 713
              Hearing Disorders 577
                Hearing Loss 573
                  Deafness 263
                    Keipert syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.