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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:Voice Disorders
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Accession:DOID:9006046 term browser browse the term
Definition:Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch.
Synonyms:exact_synonym: Neurologic Voice Disorder;   Neurologic Voice Disorders;   Voice Disorder;   Voice Disturbance;   Voice Disturbances;   Voice Fatigue;   Voice Fatigues
 primary_id: MESH:D014832;   RDO:0002353
For additional species annotation, visit the Alliance of Genome Resources.


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Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
Dysphonia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Dysphonia ClinVar PMID:12601710, PMID:14561495, PMID:15805163, PMID:17039978, PMID:17433678, PMID:18021315, PMID:18504680, PMID:18991200, PMID:19500985, PMID:19782751, PMID:20232219, PMID:21199105, PMID:21753178, PMID:21890626, PMID:22971097, PMID:25231362, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
lipoid proteinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Lipid proteinosis
ClinVar Annotator: match by OMIM:247100
ClinVar
OMIM
PMID:11929856, PMID:12472532, PMID:12603844, PMID:16172042, PMID:17063986, PMID:17199583, PMID:17927570, PMID:24708644, PMID:25529926, PMID:25741868, PMID:11929856 RGD:734912 NCBI chr 2:197,855,468...197,860,973
Ensembl chr 2:197,855,460...197,860,699
JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by OMIM:614369
ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
OMIM
ClinVar
PMID:21480433, PMID:23806086, PMID:24088041, PMID:25741868, PMID:26257172, PMID:26752647, PMID:28492532 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
torsion dystonia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Autosomal dominant torsion dystonia 4 OMIM
ClinVar
PMID:3156966, PMID:3405308, PMID:7983175, PMID:16707859, PMID:18466252, PMID:18851904, PMID:23424103, PMID:23582646, PMID:23595291, PMID:24526230, PMID:24706558, PMID:24785942, PMID:24850488, PMID:25085639, PMID:25326635, PMID:25545912, PMID:25741868, PMID:28492532, PMID:28973395, PMID:30079973 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      Otorhinolaryngologic Diseases 1190
        laryngeal disease 67
          Voice Disorders 5
            Aphonia 0
            Dysphonia + 1
            Hoarseness + 3
            torsion dystonia 4 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            laryngeal disease 67
              Voice Disorders 5
                Aphonia 0
                Dysphonia + 1
                Hoarseness + 3
                torsion dystonia 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.