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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: MIM:610706


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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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 More... NCBI chr 1:200,001,162...200,005,539
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 19099
    Stomatognathic Diseases 1368
      tooth disease 465
        Tooth Abnormalities 297
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1052
                Hearing Disorders 840
                  Hearing Loss 835
                    sensorineural hearing loss 642
                      Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
paths to the root