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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:Hoarseness
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Accession:DOID:9008513 term browser browse the term
Definition:An unnaturally deep or rough quality of voice.
Synonyms:exact_synonym: Hoarseness of Voice;   Hoarsenesses;   Neurogenic Hoarseness;   Neurogenic Hoarsenesses;   Voice Hoarseness
 primary_id: MESH:D006685;   RDO:0000486
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:28492532 PMID:29751792 NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388
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:15327549 PMID:16172042 More... RGD:734912 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
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:24033266 PMID:24088041 PMID:25741868 More... NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Signs and Symptoms 6497
        Signs and Symptoms, Respiratory 233
          Hoarseness 3
            Asrar Facharzt Haque Syndrome 1
            Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
            lipoid proteinosis 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1341
            laryngeal disease 53
              Voice Disorders 4
                Hoarseness 3
                  Asrar Facharzt Haque Syndrome 1
                  Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
                  lipoid proteinosis 1
paths to the root