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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:Vocal Cord Paralysis
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Accession:DOID:9000586 term browser browse the term
Definition:Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA.
Synonyms:exact_synonym: Acquired Vocal Cord Palsy;   Bilateral Vocal Cord Paresis;   Congenital Vocal Cord Palsy;   Laryngeal Paralyses;   Laryngeal Paralysis;   Partial Paralysis (Paresis) Vocal Cords;   Recurrent Laryngeal Nerve Palsy;   Total Vocal Cord Paralysis;   Unilateral Vocal Cord Paralysis;   Unilateral Vocal Cord Paresis;   Vocal Cord Palsies;   Vocal Cord Palsy;   Vocal Cord Paralyses;   Vocal Cord Pareses;   Vocal Cord Paresis;   Vocal Fold Palsies;   Vocal Fold Palsy
 primary_id: MESH:D014826



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autosomal dominant distal hereditary motor neuronopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:27,037,256...27,115,454 JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,587,836...26,666,543 JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,247,394...26,293,613 JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,851,364...26,961,607 JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr20:26,442,156...26,493,481 JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
OMIM
CTD
ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More... NCBI chr 9:7,595,440...7,626,258 JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:6,873,697...6,904,736 JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A ClinVar PMID:28492532 NCBI chr 9:7,221,580...7,266,991 JBrowse link
autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive ClinVar PMID:25326637 PMID:28492532 NCBI chr10:101,905,083...101,930,136 JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form ClinVar PMID:21208200 PMID:25326637 PMID:25741868 PMID:27751653 PMID:28635954 NCBI chr17:15,259,773...15,304,889 JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar
PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:6,715,935...6,735,013 JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7376
      Otorhinolaryngologic Diseases 1798
        laryngeal disease 70
          Vocal Cord Paralysis 12
            Familial Vocal Cord Dysfunction 0
            Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 0
            Laryngeal Adductor Paralysis 0
            Tucker Syndrome 0
            autosomal dominant distal hereditary motor neuronopathy 7 8
            autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis 4
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        peripheral nervous system disease 4382
          neuropathy 4170
            cranial nerve disease 823
              glossopharyngeal nerve disease 33
                Vagus nerve disease 12
                  Vocal Cord Paralysis 12
                    Familial Vocal Cord Dysfunction 0
                    Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 0
                    Laryngeal Adductor Paralysis 0
                    Tucker Syndrome 0
                    autosomal dominant distal hereditary motor neuronopathy 7 8
                    autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis 4
paths to the root