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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
For additional species annotation, visit the Alliance of Genome Resources.

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Mondini Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a4 solute carrier family 26 member 4 ISO DNA:mutations:multiple (human) RGD PMID:11317356 RGD:7421508 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Mondini Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          Otorhinolaryngologic Diseases 1154
            auditory system disease 741
              inner ear disease 528
                cochlear disease 8
                  Mondini Dysplasia 1
paths to the root