| Human Phenotype
Ontology
|
Grandparent Node:
 Paralysis (HP:0003470) | Grandparent Node:
Vocal cord dysfunction (HP:0031801) | Parent Node:
Vocal cord paralysis (HP:0001605) | ..Starting node
..Vocal cord paresis (HP:0001604)
|
| Term ID: |
1604 |
| Name: |
Vocal cord paresis |
| Synonym: |
Hoarse voice due to vocal cord paresis; Vocal cord paresis in severe cases; Weakness of the vocal cords |
| Definition: |
Decreased strength of the vocal folds. |
| Comments: |
|
| Reference: |
HP:0001604 |
| Genes and Diseases: | |
Child Nodes: | ........Unilateral vocal cord paresis (HP:0012821)
| ........Bilateral vocal cord paresis (HP:0012822)
|
Sister Nodes: | ..Bilateral vocal cord paralysis (HP:0012820)
| ..Unilateral vocal cord paralysis (HP:0008757)
| | Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | . | | | 108 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | HP:0040283 - Occasional | | | 170 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:158580 | Neuronopathy, distal hereditary motor, type VIIA | . | | | 9 | | | | HP:0001604 | HP:0001604 | Vocal cord paresis | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | | | HP:0001604 | HP:0012822 | Bilateral vocal cord paresis | 1 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | | | | 108 | | | | HP:0001604 | HP:0012821 | Unilateral vocal cord paresis | 1 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
Genes (13) :DST GDAP1 GIPC1 HAAO JAG1 LONP1 MATR3 MFN2 NOTCH2NLC PRX SH3TC2 SLC5A7 TRPV4
Diseases (14) :OMIM:614653 ORPHA:101097 ORPHA:99948 OMIM:607706 ORPHA:98897 OMIM:617660 OMIM:619574 OMIM:600373 ORPHA:600 OMIM:601152 OMIM:614895 ORPHA:99949 OMIM:158580 OMIM:606071 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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