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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 OMIM:610706
ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
OMIM
ClinVar
PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 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 17286
    sensory system disease 5678
      auditory system disease 912
        Congenital Microtia 17
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        sensory system disease 5678
          Otorhinolaryngologic Diseases 1351
            auditory system disease 912
              Hearing Disorders 740
                Hearing Loss 736
                  sensorineural hearing loss 608
                    Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
paths to the root