Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the voice (HP:0001608)

Parent Node:
Paralysis (HP:0003470)

Parent Node:
Vocal cord dysfunction (HP:0031801)

..Starting node
..Vocal cord paralysis (HP:0001605)

Term ID:

1605

Name:

Vocal cord paralysis

Synonym:

Inability to move vocal cords; Laryngeal paralysis

Definition:

A loss of the ability to move the vocal folds.

Comments:

Reference:

HP:0001605

Genes and Diseases:

Child Nodes:

........

Vocal cord paresis (HP:0001604)

................... HP:0012821 Unilateral vocal cord paresis
................... HP:0012822 Bilateral vocal cord paresis

........

Unilateral vocal cord paralysis (HP:0008757)

........

Bilateral vocal cord paralysis (HP:0012820)

Sister Nodes:

Imperfect vocal cord adduction (HP:0005934)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001605	HP:0001605	Vocal cord paralysis	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0001605	HP:0001605	Vocal cord paralysis	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0001605	HP:0001605	Vocal cord paralysis	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional	14
HP:0001605	HP:0001605	Vocal cord paralysis	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001605	HP:0001605	Vocal cord paralysis	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0001605	HP:0001605	Vocal cord paralysis	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0001605	HP:0001605	Vocal cord paralysis	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0001605	HP:0001605	Vocal cord paralysis	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	44
HP:0001605	HP:0001605	Vocal cord paralysis	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001605	HP:0001605	Vocal cord paralysis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001605	HP:0001605	Vocal cord paralysis	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	107
HP:0001605	HP:0001605	Vocal cord paralysis	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	112
HP:0001605	HP:0001605	Vocal cord paralysis	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0001605	HP:0001605	Vocal cord paralysis	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	68
HP:0001605	HP:0001605	Vocal cord paralysis	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0001605	HP:0001605	Vocal cord paralysis	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001605	HP:0001605	Vocal cord paralysis	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0001605	HP:0001605	Vocal cord paralysis	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001605	HP:0001605	Vocal cord paralysis	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0001605	HP:0001605	Vocal cord paralysis	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001605	HP:0001605	Vocal cord paralysis	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0001605	HP:0001605	Vocal cord paralysis	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	645
HP:0001605	HP:0001605	Vocal cord paralysis	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001605	HP:0001605	Vocal cord paralysis	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0001605	HP:0001605	Vocal cord paralysis	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0001605	HP:0001605	Vocal cord paralysis	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0001605	HP:0001605	Vocal cord paralysis	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0001605	HP:0001605	Vocal cord paralysis	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0001605	HP:0001605	Vocal cord paralysis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001605	HP:0001605	Vocal cord paralysis	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0001605	HP:0001605	Vocal cord paralysis	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0001605	HP:0001605	Vocal cord paralysis	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001605	HP:0001605	Vocal cord paralysis	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional	79
HP:0001605	HP:0001605	Vocal cord paralysis	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.	79
HP:0001605	HP:0001605	Vocal cord paralysis	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0001605	HP:0001605	Vocal cord paralysis	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0001605	HP:0001605	Vocal cord paralysis	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0001605	HP:0001605	Vocal cord paralysis	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	572
HP:0001605	HP:0001605	Vocal cord paralysis	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	237
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0001605	HP:0001605	Vocal cord paralysis	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	129
HP:0001605	HP:0001605	Vocal cord paralysis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0001605	HP:0001605	Vocal cord paralysis	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0001605	HP:0001605	Vocal cord paralysis	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0001605	HP:0001605	Vocal cord paralysis	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0001605	HP:0001605	Vocal cord paralysis	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0001605	HP:0001605	Vocal cord paralysis	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	1129
HP:0001605	HP:0001605	Vocal cord paralysis	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	508
HP:0001605	HP:0001605	Vocal cord paralysis	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0001605	HP:0001605	Vocal cord paralysis	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	171
HP:0001605	HP:0001605	Vocal cord paralysis	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional	2
HP:0001605	HP:0001605	Vocal cord paralysis	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0001605	HP:0001605	Vocal cord paralysis	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0001605	HP:0001605	Vocal cord paralysis	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0001605	HP:0001605	Vocal cord paralysis	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	490
HP:0001605	HP:0001605	Vocal cord paralysis	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001605	HP:0012820	Bilateral vocal cord paralysis	1	CL E G H
HP:0001605	HP:0001604	Vocal cord paresis	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001605	HP:0001604	Vocal cord paresis	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0001605	HP:0001604	Vocal cord paresis	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001605	HP:0001604	Vocal cord paresis	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.	108
HP:0001605	HP:0001604	Vocal cord paresis	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001605	HP:0001604	Vocal cord paresis	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0001605	HP:0001604	Vocal cord paresis	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001605	HP:0001604	Vocal cord paresis	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0001605	HP:0001604	Vocal cord paresis	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0001605	HP:0001604	Vocal cord paresis	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0001605	HP:0001604	Vocal cord paresis	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001605	HP:0008757	Unilateral vocal cord paralysis	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0001605	HP:0001604	Vocal cord paresis	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	HP:0040283 - Occasional	170
HP:0001605	HP:0001604	Vocal cord paresis	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0001605	HP:0001604	Vocal cord paresis	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0001605	HP:0001604	Vocal cord paresis	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0001605	HP:0012822	Bilateral vocal cord paresis	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001605	HP:0012821	Unilateral vocal cord paresis	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2

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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen