Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of the voice (HP:0001608)help
..Starting node
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Vocal cord dysfunction (HP:0031801)help
Term ID: 31801
Name: Vocal cord dysfunction
Synonym:
Definition: Any functional anomaly of the vocal cord.
Comments:
Reference: HP:0031801
Genes and Diseases:
 
       Child Nodes:
........expandVocal cord paralysis (HP:0001605) help
................... HP:0001604 Vocal cord paresis
................... HP:0008757 Unilateral vocal cord paralysis
................... HP:0012820 Bilateral vocal cord paralysis
........expandImperfect vocal cord adduction (HP:0005934) help

 Sister Nodes: 
..expandAbnormal cry (HP:0025429) help
..expandAbnormal speech prosody (HP:0031434) help
..expandAbnormally low-pitched voice (HP:0010300) help
..expandDysphonia (HP:0001618) help
..expandHigh pitched voice (HP:0001620) help
..expandHoarse voice (HP:0001609) help
..expandHyponasal speech (HP:0100271) help
..expandLoss of voice (HP:0001686) help
..expandNasal speech (HP:0001611) help
..expandSpeech articulation difficulties (HP:0009088) help
..expandWeak voice (HP:0001621) 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:0031801HP:0031801Vocal cord dysfunction0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0031801HP:0031801Vocal cord dysfunction0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0031801HP:0031801Vocal cord dysfunction0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0031801HP:0031801Vocal cord dysfunction0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0031801HP:0031801Vocal cord dysfunction0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0031801HP:0031801Vocal cord dysfunction0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0031801HP:0031801Vocal cord dysfunction0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0031801HP:0031801Vocal cord dysfunction0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0031801HP:0031801Vocal cord dysfunction0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0031801HP:0031801Vocal cord dysfunction0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0031801HP:0031801Vocal cord dysfunction0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0031801HP:0031801Vocal cord dysfunction0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0031801HP:0031801Vocal cord dysfunction0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0031801HP:0031801Vocal cord dysfunction0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0031801HP:0031801Vocal cord dysfunction0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0031801HP:0031801Vocal cord dysfunction0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0031801HP:0031801Vocal cord dysfunction0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0031801HP:0031801Vocal cord dysfunction0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0031801HP:0031801Vocal cord dysfunction0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0031801HP:0031801Vocal cord dysfunction0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0031801HP:0031801Vocal cord dysfunction0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0031801HP:0031801Vocal cord dysfunction0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0031801HP:0031801Vocal cord dysfunction0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0031801HP:0031801Vocal cord dysfunction0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0031801HP:0031801Vocal cord dysfunction0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0031801HP:0031801Vocal cord dysfunction0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0031801HP:0031801Vocal cord dysfunction0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0031801HP:0031801Vocal cord dysfunction0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0031801HP:0031801Vocal cord dysfunction0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0031801HP:0031801Vocal cord dysfunction0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0031801HP:0031801Vocal cord dysfunction0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0031801HP:0031801Vocal cord dysfunction0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0031801HP:0031801Vocal cord dysfunction0PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsies79
HP:0031801HP:0031801Vocal cord dysfunction0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0031801HP:0031801Vocal cord dysfunction0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0031801HP:0031801Vocal cord dysfunction0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0031801HP:0031801Vocal cord dysfunction0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0031801HP:0031801Vocal cord dysfunction0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0031801HP:0031801Vocal cord dysfunction0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0031801HP:0031801Vocal cord dysfunction0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0031801HP:0031801Vocal cord dysfunction0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0031801HP:0031801Vocal cord dysfunction0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0031801HP:0031801Vocal cord dysfunction0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0031801HP:0031801Vocal cord dysfunction0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0031801HP:0031801Vocal cord dysfunction0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0031801HP:0031801Vocal cord dysfunction0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0031801HP:0031801Vocal cord dysfunction0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0031801HP:0031801Vocal cord dysfunction0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0031801HP:0031801Vocal cord dysfunction0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0031801HP:0031801Vocal cord dysfunction0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0031801HP:0031801Vocal cord dysfunction0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0031801HP:0031801Vocal cord dysfunction0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0031801HP:0031801Vocal cord dysfunction0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 151
HP:0031801HP:0031801Vocal cord dysfunction0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA9
HP:0031801HP:0031801Vocal cord dysfunction0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0031801HP:0031801Vocal cord dysfunction0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0031801HP:0031801Vocal cord dysfunction0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0031801HP:0031801Vocal cord dysfunction0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0031801HP:0031801Vocal cord dysfunction0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0031801HP:0031801Vocal cord dysfunction0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R3
HP:0031801HP:0031801Vocal cord dysfunction0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0031801HP:0031801Vocal cord dysfunction0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0031801HP:0031801Vocal cord dysfunction0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0031801HP:0031801Vocal cord dysfunction0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0031801HP:0001605Vocal cord paralysis1ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040283 - Occasional14
HP:0031801HP:0001605Vocal cord paralysis1ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040283 - Occasional14
HP:0031801HP:0001605Vocal cord paralysis1ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040283 - Occasional14
HP:0031801HP:0001605Vocal cord paralysis1CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0031801HP:0001605Vocal cord paralysis1DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0031801HP:0001605Vocal cord paralysis1DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040282 - Frequent
HP:0031801HP:0001605Vocal cord paralysis1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0031801HP:0001605Vocal cord paralysis1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional44
HP:0031801HP:0001605Vocal cord paralysis1DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0031801HP:0001605Vocal cord paralysis1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0031801HP:0001605Vocal cord paralysis1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare107
HP:0031801HP:0001605Vocal cord paralysis1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional112
HP:0031801HP:0001605Vocal cord paralysis1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional301
HP:0031801HP:0001605Vocal cord paralysis1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare68
HP:0031801HP:0001605Vocal cord paralysis1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0031801HP:0001605Vocal cord paralysis1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0031801HP:0001605Vocal cord paralysis1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0031801HP:0001605Vocal cord paralysis1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0031801HP:0001605Vocal cord paralysis1HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0031801HP:0001605Vocal cord paralysis1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0031801HP:0001605Vocal cord paralysis1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional202
HP:0031801HP:0001605Vocal cord paralysis1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare645
HP:0031801HP:0001605Vocal cord paralysis1LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0031801HP:0001605Vocal cord paralysis1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0031801HP:0005934Imperfect vocal cord adduction1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0031801HP:0001605Vocal cord paralysis1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional84
HP:0031801HP:0001605Vocal cord paralysis1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional4
HP:0031801HP:0001605Vocal cord paralysis1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0031801HP:0001605Vocal cord paralysis1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0031801HP:0001605Vocal cord paralysis1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0031801HP:0001605Vocal cord paralysis1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0031801HP:0001605Vocal cord paralysis1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional1952
HP:0031801HP:0001605Vocal cord paralysis1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0031801HP:0001605Vocal cord paralysis1PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsiesHP:0040283 - Occasional79
HP:0031801HP:0001605Vocal cord paralysis1PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies.79
HP:0031801HP:0001605Vocal cord paralysis1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0031801HP:0001605Vocal cord paralysis1PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0031801HP:0001605Vocal cord paralysis1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional572
HP:0031801HP:0001605Vocal cord paralysis1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional572
HP:0031801HP:0001605Vocal cord paralysis1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0031801HP:0001605Vocal cord paralysis1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional304
HP:0031801HP:0001605Vocal cord paralysis1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional55
HP:0031801HP:0001605Vocal cord paralysis1SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0031801HP:0001605Vocal cord paralysis1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional237
HP:0031801HP:0001605Vocal cord paralysis1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional237
HP:0031801HP:0001605Vocal cord paralysis1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional147
HP:0031801HP:0001605Vocal cord paralysis1SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0031801HP:0001605Vocal cord paralysis1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional129
HP:0031801HP:0001605Vocal cord paralysis1SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0031801HP:0001605Vocal cord paralysis1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional129
HP:0031801HP:0001605Vocal cord paralysis1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040284 - Very rare143
HP:0031801HP:0001605Vocal cord paralysis1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0031801HP:0001605Vocal cord paralysis1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional
HP:0031801HP:0001605Vocal cord paralysis1SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0031801HP:0001605Vocal cord paralysis1SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0031801HP:0001605Vocal cord paralysis1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare1129
HP:0031801HP:0001605Vocal cord paralysis1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare508
HP:0031801HP:0001605Vocal cord paralysis1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional131
HP:0031801HP:0001605Vocal cord paralysis1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040284 - Very rare171
HP:0031801HP:0001605Vocal cord paralysis1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040283 - Occasional2
HP:0031801HP:0001605Vocal cord paralysis1TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0031801HP:0001605Vocal cord paralysis1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0031801HP:0001605Vocal cord paralysis1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040283 - Occasional490
HP:0031801HP:0001605Vocal cord paralysis1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040283 - Occasional490
HP:0031801HP:0001605Vocal cord paralysis1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0031801HP:0012820Bilateral vocal cord paralysis2 CL E G H
HP:0031801HP:0001604Vocal cord paresis2DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0031801HP:0001604Vocal cord paresis2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0031801HP:0001604Vocal cord paresis2GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0031801HP:0001604Vocal cord paresis2GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive.108
HP:0031801HP:0001604Vocal cord paresis2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0031801HP:0001604Vocal cord paresis2HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0031801HP:0001604Vocal cord paresis2JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0031801HP:0001604Vocal cord paresis2LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0031801HP:0001604Vocal cord paresis2MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0031801HP:0001604Vocal cord paresis2MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0031801HP:0001604Vocal cord paresis2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0031801HP:0008757Unilateral vocal cord paralysis2POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome.2
HP:0031801HP:0001604Vocal cord paresis2PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4FHP:0040283 - Occasional170
HP:0031801HP:0001604Vocal cord paresis2SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0031801HP:0001604Vocal cord paresis2SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0031801HP:0001604Vocal cord paresis2TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0031801HP:0012822Bilateral vocal cord paresis3DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0031801HP:0012821Unilateral vocal cord paresis3HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12


Genes (51) :ATXN3 CAMK2B DCTN1 DKK1 DLST DNMT3A DST ELN EMD EPAS1 FH FHL1 GDAP1 GIPC1 HAAO JAG1 KIF1B LMNA LONP1 MATR3 MAX MDH2 MFN2 MLXIPL MYCN NF1 NOTCH2NLC PMP22 POLA1 PRX RET SBF2 SDHA SDHAF2 SDHB SDHC SDHD SETBP1 SH3TC2 SLC25A11 SLC52A3 SLC5A7 SYNE1 SYNE2 TMEM127 TMEM43 TRAPPC12 TRIM2 TRPV4 VHL ZNF699

Diseases (39) :ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:617799 OMIM:607641 ORPHA:268882 ORPHA:29072 ORPHA:276621 OMIM:614653 OMIM:194050 ORPHA:98863 ORPHA:101097 ORPHA:99948 OMIM:607706 ORPHA:98897 OMIM:617660 OMIM:619574 ORPHA:98853 OMIM:600373 ORPHA:600 ORPHA:99947 OMIM:601152 OMIM:164280 ORPHA:640 OMIM:162500 OMIM:301030 OMIM:614895 ORPHA:99956 OMIM:601650 OMIM:605373 OMIM:168000 ORPHA:798 ORPHA:99949 OMIM:211530 OMIM:158580 ORPHA:500144 OMIM:615490 OMIM:606071 OMIM:619488
 

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