Human Phenotype Ontology 
Grandparent Node:
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Dystonia (HP:0001332)help
Parent Node:
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Dysphonia (HP:0001618)help
Parent Node:
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Focal dystonia (HP:0004373)help
..Starting node
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Laryngeal dystonia (HP:0012049)help
Term ID: 12049
Name: Laryngeal dystonia
Synonym: Spasmodic dysphonia
Definition: A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
Comments:
Reference: HP:0012049
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCraniofacial dystonia (HP:0012179) help
..expandWriter's cramp (HP:0002356) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012049HP:0012049Laryngeal dystonia0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0012049HP:0012049Laryngeal dystonia0COL6A3 CL E G H12932213OMIM:616411Dystonia 27.702
HP:0012049HP:0012049Laryngeal dystonia0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040281 - Very frequent702
HP:0012049HP:0012049Laryngeal dystonia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0012049HP:0012049Laryngeal dystonia0GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0012049HP:0012049Laryngeal dystonia0GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0012049HP:0012049Laryngeal dystonia0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0012049HP:0012049Laryngeal dystonia0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0012049HP:0012049Laryngeal dystonia0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0012049HP:0012049Laryngeal dystonia0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0012049HP:0012049Laryngeal dystonia0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0012049HP:0012049Laryngeal dystonia0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0012049HP:0012049Laryngeal dystonia0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0012049HP:0012049Laryngeal dystonia0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0012049HP:0012049Laryngeal dystonia0THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0012049HP:0012049Laryngeal dystonia0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040281 - Very frequent66
HP:0012049HP:0012049Laryngeal dystonia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0012049HP:0012049Laryngeal dystonia0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130


Genes (13) :ATP5MC3 COL6A3 FTL GNAL GNAS KCTD17 KMT2B PRKRA STX16 THAP1 TUBB4A VPS11 VPS13A

Diseases (17) :OMIM:619681 OMIM:616411 ORPHA:464440 OMIM:606159 ORPHA:329466 OMIM:615073 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:616398 OMIM:617284 OMIM:612067 OMIM:602629 ORPHA:98806 ORPHA:98805 OMIM:619637 ORPHA:2388
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.