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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:Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
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Accession:DOID:9005439 term browser browse the term
Synonyms:exact_synonym: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia;   Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM);   Lamm syndrome;   deafness with Lamm
 primary_id: MESH:C565195
 alt_id: OMIM:610706
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) OMIM
ClinVar		 PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Stomatognathic Diseases 1246
      tooth disease 366
        Tooth Abnormalities 221
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        Neurologic Manifestations 10112
          sensory system disease 7132
            Otorhinolaryngologic Diseases 1855
              auditory system disease 1120
                Hearing Disorders 860
                  Hearing Loss 856
                    sensorineural hearing loss 671
                      Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
paths to the root