Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 PMID:21480479 PMID:25741868 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      auditory system disease 751
        Congenital Microtia 14
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  sensorineural hearing loss 498
                    Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
paths to the root