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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:autosomal recessive nonsyndromic deafness 49
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Accession:DOID:0110506 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. (DO)
Synonyms:exact_synonym: DFNB49;   autosomal recessive deafness 49;   neurosensory deafness, autosomal recessive 49
 primary_id: MESH:C565717
 alt_id: OMIM:610153
 xref: NCI:C129024

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autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 OMIM
ClinVar		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chrNW_004955575:115,734...135,568
Ensembl chrNW_004955575:115,752...139,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      Hearing Disorders 726
        Hearing Loss 721
          sensorineural hearing loss 541
            autosomal recessive nonsyndromic deafness 131
              autosomal recessive nonsyndromic deafness 49 1
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            Otorhinolaryngologic Diseases 1561
              auditory system disease 890
                Hearing Disorders 726
                  Hearing Loss 721
                    Deafness 348
                      nonsyndromic deafness 201
                        autosomal recessive nonsyndromic deafness 131
                          autosomal recessive nonsyndromic deafness 49 1
paths to the root