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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:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16042
    Pathological Conditions, Signs and Symptoms 8753
      Signs and Symptoms 5266
        Signs and Symptoms, Respiratory 225
          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 16042
    disease of anatomical entity 15294
      nervous system disease 10900
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            laryngeal disease 67
              Voice Disorders 5
                Hoarseness 3
                  Asrar Facharzt Haque Syndrome 1
                  Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
                  lipoid proteinosis 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.