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autosomal dominant nonsyndromic deafness 72 - Ontology Report - Rat Genome Database

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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 dominant nonsyndromic deafness 72
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Accession:DOID:0080268 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: DFNA72;   SLC44A4-RELATED CONDITION;   autosomal dominant deafness 72
 primary_id: MIM:617606

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autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H EHMT2-AS1 EHMT2 and SLC44A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: SLC44A4-related condition ClinVar PMID:28492532 NCBI chr 6:31,877,808...31,884,204
Ensembl chr 6:31,877,808...31,884,204
Ensembl chr 6:31,877,808...31,884,204 		JBrowse link
G N Slc44a4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chrNW_004624754:24,368,697...24,381,959
Ensembl chrNW_004624754:24,368,716...24,382,397 		JBrowse link
G G SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr17:40,142,349...40,158,024
Ensembl chr17:40,142,730...40,157,858 		JBrowse link
G P SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 7:23,958,935...23,977,466
Ensembl chr 7:23,958,942...23,977,482 		JBrowse link
G S Slc44a4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chrNW_004936727:1,663,593...1,683,061
Ensembl chrNW_004936727:1,663,747...1,682,941 		JBrowse link
G D SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr12:1,328,276...1,340,752
Ensembl chr12:1,328,399...1,340,778 		JBrowse link
G B SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 6:31,526,660...31,542,165
Ensembl chr 6:32,413,441...32,428,550 		JBrowse link
G C Slc44a4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chrNW_004955437:383,523...396,456
Ensembl chrNW_004955437:383,271...397,217 		JBrowse link
G R Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr20:3,907,737...3,923,911
Ensembl chr20:3,903,099...3,919,215 		JBrowse link
G M Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr17:35,133,200...35,149,412
Ensembl chr17:35,133,442...35,149,412 		JBrowse link
G H SLC44A4 solute carrier family 44 member 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 72
ClinVar Annotator: match by term: SLC44A4-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      Hearing Disorders 8892
        Hearing Loss 8838
          sensorineural hearing loss 6611
            autosomal dominant nonsyndromic deafness 915
              autosomal dominant nonsyndromic deafness 72 11
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            Otorhinolaryngologic Diseases 19638
              auditory system disease 11215
                Hearing Disorders 8892
                  Hearing Loss 8838
                    Deafness 4116
                      nonsyndromic deafness 2338
                        autosomal dominant nonsyndromic deafness 915
                          autosomal dominant nonsyndromic deafness 72 11
paths to the root