ONTOLOGY REPORT - ANNOTATIONS


Term:Mondini Dysplasia
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Accession:DOID:9005954 term browser browse the term
Definition:A congenital inner ear malformation that features hearing loss and a cochlea that contains a normal basal turn and cystic apex, a minimally dilated vestibule, and an enlarged vestibular aqueduct. This term has also been used to describe multiple variants of cochlear hypoplasia.
Synonyms:exact_synonym: Mondini deformity;   Mondini malformation
 primary_id: RDO:9000073
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Mondini Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:7421508

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Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Mondini Dysplasia 1
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Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              inner ear disease 473
                cochlear disease 7
                  Mondini Dysplasia 1
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