Human Phenotype Ontology

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:0003470	HP:0003470	Paralysis	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0003470	HP:0003470	Paralysis	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0003470	HP:0003470	Paralysis	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0003470	HP:0003470	Paralysis	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.	62
HP:0003470	HP:0003470	Paralysis	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0003470	HP:0003470	Paralysis	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	75
HP:0003470	HP:0003470	Paralysis	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	.	63
HP:0003470	HP:0003470	Paralysis	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0003470	HP:0003470	Paralysis	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0003470	HP:0003470	Paralysis	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003470	HP:0003470	Paralysis	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0003470	HP:0003470	Paralysis	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003470	HP:0003470	Paralysis	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0003470	HP:0003470	Paralysis	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0003470	HP:0003470	Paralysis	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0003470	HP:0003470	Paralysis	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0003470	HP:0003470	Paralysis	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0003470	HP:0003470	Paralysis	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040284 - Very rare	67
HP:0003470	HP:0003470	Paralysis	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0003470	HP:0003470	Paralysis	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0003470	HP:0003470	Paralysis	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0003470	HP:0003470	Paralysis	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	247
HP:0003470	HP:0003470	Paralysis	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0003470	HP:0003470	Paralysis	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0003470	HP:0003470	Paralysis	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1		247
HP:0003470	HP:0003470	Paralysis	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0003470	HP:0003470	Paralysis	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003470	HP:0003470	Paralysis	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.	3
HP:0003470	HP:0003470	Paralysis	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0003470	HP:0003470	Paralysis	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003470	HP:0003470	Paralysis	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0003470	HP:0003470	Paralysis	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0003470	HP:0003470	Paralysis	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0003470	HP:0003470	Paralysis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0003470	HP:0003470	Paralysis	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.	9
HP:0003470	HP:0003470	Paralysis	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0003470	HP:0003470	Paralysis	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0003470	HP:0003470	Paralysis	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0003470	HP:0003470	Paralysis	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003470	HP:0003470	Paralysis	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0003470	HP:0003470	Paralysis	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1		86
HP:0003470	HP:0003470	Paralysis	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0003470	HP:0003470	Paralysis	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0003470	HP:0003470	Paralysis	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0003470	HP:0003470	Paralysis	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0003470	HP:0003470	Paralysis	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0003470	HP:0003470	Paralysis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003470	HP:0003470	Paralysis	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0003470	HP:0003470	Paralysis	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0003470	HP:0003470	Paralysis	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003470	HP:0003470	Paralysis	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0003470	HP:0003470	Paralysis	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0003470	HP:0003470	Paralysis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0003470	HP:0003470	Paralysis	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0003470	HP:0003470	Paralysis	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0003470	HP:0003470	Paralysis	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0003470	HP:0003470	Paralysis	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria		111
HP:0003470	HP:0003470	Paralysis	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0003470	HP:0003470	Paralysis	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0003470	HP:0003470	Paralysis	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0003470	HP:0003470	Paralysis	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0003470	HP:0003470	Paralysis	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0003470	HP:0003470	Paralysis	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003470	HP:0003470	Paralysis	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0003470	HP:0003470	Paralysis	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003470	HP:0003470	Paralysis	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0003470	HP:0003470	Paralysis	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003470	HP:0003470	Paralysis	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0003470	HP:0003470	Paralysis	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0003470	HP:0003470	Paralysis	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.	38
HP:0003470	HP:0003470	Paralysis	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.	11
HP:0003470	HP:0003470	Paralysis	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria		81
HP:0003470	HP:0003470	Paralysis	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0003470	HP:0003470	Paralysis	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003470	HP:0003470	Paralysis	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.	47
HP:0003470	HP:0003470	Paralysis	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.	38
HP:0003470	HP:0003470	Paralysis	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0003470	HP:0003470	Paralysis	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0003470	HP:0003470	Paralysis	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0003470	HP:0003470	Paralysis	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	73
HP:0003470	HP:0003470	Paralysis	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0003470	HP:0003470	Paralysis	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0003470	HP:0003470	Paralysis	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0003470	HP:0003470	Paralysis	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0003470	HP:0003470	Paralysis	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0003470	HP:0003470	Paralysis	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0003470	HP:0003470	Paralysis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0003470	HP:0003470	Paralysis	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0003470	HP:0003470	Paralysis	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant		44
HP:0003470	HP:0003470	Paralysis	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0003470	HP:0003470	Paralysis	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0003470	HP:0003470	Paralysis	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0003470	HP:0003470	Paralysis	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0003470	HP:0003470	Paralysis	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0003470	HP:0003470	Paralysis	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0003470	HP:0003470	Paralysis	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0003470	HP:0003470	Paralysis	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0003470	HP:0003470	Paralysis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003470	HP:0003470	Paralysis	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0003470	HP:0003470	Paralysis	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0003470	HP:0003470	Paralysis	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0003470	HP:0003470	Paralysis	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0003470	HP:0003470	Paralysis	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1		24
HP:0003470	HP:0003470	Paralysis	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0003470	HP:0003470	Paralysis	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0003470	HP:0003470	Paralysis	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0003470	HP:0003470	Paralysis	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0003470	HP:0003470	Paralysis	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003470	HP:0003470	Paralysis	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0003470	HP:0003470	Paralysis	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003470	HP:0003470	Paralysis	0	PDCD10 CL E G H	11235	8761	OMIM:603285	Cerebral cavernous malformations 3	HP:0040282 - Frequent	21
HP:0003470	HP:0003470	Paralysis	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0003470	HP:0003470	Paralysis	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0003470	HP:0003470	Paralysis	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies		79
HP:0003470	HP:0003470	Paralysis	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0003470	HP:0003470	Paralysis	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0003470	HP:0003470	Paralysis	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0003470	HP:0003470	Paralysis	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0003470	HP:0003470	Paralysis	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0003470	HP:0003470	Paralysis	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003470	HP:0003470	Paralysis	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003470	HP:0003470	Paralysis	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0003470	HP:0003470	Paralysis	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.	41
HP:0003470	HP:0003470	Paralysis	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0003470	HP:0003470	Paralysis	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1		25
HP:0003470	HP:0003470	Paralysis	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0003470	HP:0003470	Paralysis	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0003470	HP:0003470	Paralysis	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0003470	HP:0003470	Paralysis	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0003470	HP:0003470	Paralysis	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0003470	HP:0003470	Paralysis	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0003470	HP:0003470	Paralysis	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0003470	HP:0003470	Paralysis	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0003470	HP:0003470	Paralysis	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis		263
HP:0003470	HP:0003470	Paralysis	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0003470	HP:0003470	Paralysis	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0003470	HP:0003470	Paralysis	0	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0003470	HP:0003470	Paralysis	0	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2		263
HP:0003470	HP:0003470	Paralysis	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg		263
HP:0003470	HP:0003470	Paralysis	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0003470	HP:0003470	Paralysis	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0003470	HP:0003470	Paralysis	0	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2		55
HP:0003470	HP:0003470	Paralysis	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0003470	HP:0003470	Paralysis	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0003470	HP:0003470	Paralysis	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0003470	HP:0003470	Paralysis	0	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3		147
HP:0003470	HP:0003470	Paralysis	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0003470	HP:0003470	Paralysis	0	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1		129
HP:0003470	HP:0003470	Paralysis	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0003470	HP:0003470	Paralysis	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003470	HP:0003470	Paralysis	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0003470	HP:0003470	Paralysis	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0003470	HP:0003470	Paralysis	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0003470	HP:0003470	Paralysis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0003470	HP:0003470	Paralysis	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0003470	HP:0003470	Paralysis	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.	36
HP:0003470	HP:0003470	Paralysis	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0003470	HP:0003470	Paralysis	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0003470	HP:0003470	Paralysis	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0003470	HP:0003470	Paralysis	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA		9
HP:0003470	HP:0003470	Paralysis	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0003470	HP:0003470	Paralysis	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1		53
HP:0003470	HP:0003470	Paralysis	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0003470	HP:0003470	Paralysis	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0003470	HP:0003470	Paralysis	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0003470	HP:0003470	Paralysis	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0003470	HP:0003470	Paralysis	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0003470	HP:0003470	Paralysis	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0003470	HP:0003470	Paralysis	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003470	HP:0003470	Paralysis	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0003470	HP:0003470	Paralysis	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0003470	HP:0003470	Paralysis	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35		58
HP:0003470	HP:0003470	Paralysis	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0003470	HP:0003470	Paralysis	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0003470	HP:0003470	Paralysis	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0003470	HP:0003470	Paralysis	0	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency		28
HP:0003470	HP:0003470	Paralysis	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome		2
HP:0003470	HP:0003470	Paralysis	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0003470	HP:0003470	Paralysis	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R		3
HP:0003470	HP:0003470	Paralysis	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.	2
HP:0003470	HP:0003470	Paralysis	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0003470	HP:0003470	Paralysis	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0003470	HP:0003470	Paralysis	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0003470	HP:0003470	Paralysis	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0003470	HP:0003470	Paralysis	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0003470	HP:0003470	Paralysis	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63
HP:0003470	HP:0003470	Paralysis	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0003470	HP:0003470	Paralysis	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0003470	HP:0003470	Paralysis	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0003470	HP:0003470	Paralysis	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003470	HP:0003768	Periodic paralysis	1	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset		72
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0003470	HP:0002203	Respiratory paralysis	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.	62
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional	89
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0003470	HP:0007209	Facial paralysis	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	239
HP:0003470	HP:0001605	Vocal cord paralysis	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040283 - Occasional	14
HP:0003470	HP:0001605	Vocal cord paralysis	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040283 - Occasional	14
HP:0003470	HP:0001605	Vocal cord paralysis	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040283 - Occasional	14
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional	25
HP:0003470	HP:0006597	Diaphragmatic paralysis	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003470	HP:0003768	Periodic paralysis	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3		29
HP:0003470	HP:0007209	Facial paralysis	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	449
HP:0003470	HP:0002203	Respiratory paralysis	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	247
HP:0003470	HP:0003768	Periodic paralysis	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0003470	HP:0003768	Periodic paralysis	1	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1		247
HP:0003470	HP:0002203	Respiratory paralysis	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	247
HP:0003470	HP:0003768	Periodic paralysis	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0003470	HP:0003768	Periodic paralysis	1	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0003470	HP:0001605	Vocal cord paralysis	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0003470	HP:0003768	Periodic paralysis	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0003470	HP:0007209	Facial paralysis	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0003470	HP:0007209	Facial paralysis	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0003470	HP:0002203	Respiratory paralysis	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0003470	HP:0001605	Vocal cord paralysis	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0003470	HP:0001605	Vocal cord paralysis	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0003470	HP:0001605	Vocal cord paralysis	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0003470	HP:0001605	Vocal cord paralysis	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	44
HP:0003470	HP:0001605	Vocal cord paralysis	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0003470	HP:0001605	Vocal cord paralysis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003470	HP:0001605	Vocal cord paralysis	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	107
HP:0003470	HP:0001605	Vocal cord paralysis	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	112
HP:0003470	HP:0003768	Periodic paralysis	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0003470	HP:0001605	Vocal cord paralysis	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0003470	HP:0001605	Vocal cord paralysis	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	68
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional	111
HP:0003470	HP:0006597	Diaphragmatic paralysis	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0003470	HP:0002203	Respiratory paralysis	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare
HP:0003470	HP:0003768	Periodic paralysis	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0003470	HP:0001605	Vocal cord paralysis	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0003470	HP:0001605	Vocal cord paralysis	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003470	HP:0001605	Vocal cord paralysis	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0003470	HP:0001605	Vocal cord paralysis	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003470	HP:0001605	Vocal cord paralysis	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0003470	HP:0002203	Respiratory paralysis	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0003470	HP:0002203	Respiratory paralysis	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0003470	HP:0006597	Diaphragmatic paralysis	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0003470	HP:0001605	Vocal cord paralysis	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0003470	HP:0002203	Respiratory paralysis	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	73
HP:0003470	HP:0003768	Periodic paralysis	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0003470	HP:0003768	Periodic paralysis	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0003470	HP:0002203	Respiratory paralysis	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	10
HP:0003470	HP:0003768	Periodic paralysis	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	.	10
HP:0003470	HP:0003768	Periodic paralysis	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0003470	HP:0003768	Periodic paralysis	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040280 - Obligate	193
HP:0003470	HP:0003768	Periodic paralysis	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040280 - Obligate	128
HP:0003470	HP:0001605	Vocal cord paralysis	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0003470	HP:0001605	Vocal cord paralysis	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	645
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0003470	HP:0001605	Vocal cord paralysis	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0003470	HP:0001605	Vocal cord paralysis	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0003470	HP:0001605	Vocal cord paralysis	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0003470	HP:0001605	Vocal cord paralysis	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0003470	HP:0006597	Diaphragmatic paralysis	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.	158
HP:0003470	HP:0001605	Vocal cord paralysis	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0003470	HP:0001605	Vocal cord paralysis	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0003470	HP:0001605	Vocal cord paralysis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003470	HP:0006597	Diaphragmatic paralysis	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare	8
HP:0003470	HP:0007209	Facial paralysis	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0003470	HP:0001605	Vocal cord paralysis	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0003470	HP:0001605	Vocal cord paralysis	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0003470	HP:0007209	Facial paralysis	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0003470	HP:0001605	Vocal cord paralysis	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.	144
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0003470	HP:0001605	Vocal cord paralysis	1	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional	79
HP:0003470	HP:0001605	Vocal cord paralysis	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.	79
HP:0003470	HP:0001605	Vocal cord paralysis	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0003470	HP:0002203	Respiratory paralysis	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0003470	HP:0007209	Facial paralysis	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	94
HP:0003470	HP:0001605	Vocal cord paralysis	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0003470	HP:0006597	Diaphragmatic paralysis	1	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0003470	HP:0001605	Vocal cord paralysis	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0003470	HP:0001605	Vocal cord paralysis	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	572
HP:0003470	HP:0001605	Vocal cord paralysis	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0003470	HP:0007209	Facial paralysis	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional	1053
HP:0003470	HP:0003768	Periodic paralysis	1	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis		263
HP:0003470	HP:0003768	Periodic paralysis	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0003470	HP:0003768	Periodic paralysis	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0003470	HP:0002203	Respiratory paralysis	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare	263
HP:0003470	HP:0003768	Periodic paralysis	1	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1		263
HP:0003470	HP:0003768	Periodic paralysis	1	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2	.	263
HP:0003470	HP:0003768	Periodic paralysis	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg		263
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHAF2 CL E G H	54949	26034	OMIM:601650	Paragangliomas 2	.	55
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	237
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHC CL E G H	6391	10682	OMIM:605373	Paragangliomas 3	.	147
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHD CL E G H	6392	10683	OMIM:168000	Paragangliomas 1	.	129
HP:0003470	HP:0001605	Vocal cord paralysis	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	129
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0003470	HP:0001605	Vocal cord paralysis	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0003470	HP:0001605	Vocal cord paralysis	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0003470	HP:0007209	Facial paralysis	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0003470	HP:0001605	Vocal cord paralysis	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0003470	HP:0001605	Vocal cord paralysis	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0003470	HP:0001605	Vocal cord paralysis	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0003470	HP:0001605	Vocal cord paralysis	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	1129
HP:0003470	HP:0001605	Vocal cord paralysis	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	508
HP:0003470	HP:0007209	Facial paralysis	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35		58
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional	58
HP:0003470	HP:0001605	Vocal cord paralysis	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0003470	HP:0001605	Vocal cord paralysis	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	171
HP:0003470	HP:0007209	Facial paralysis	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0003470	HP:0006597	Diaphragmatic paralysis	1	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency	HP:0040282 - Frequent	28
HP:0003470	HP:0001605	Vocal cord paralysis	1	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:0003470	HP:0001605	Vocal cord paralysis	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.	3
HP:0003470	HP:0001605	Vocal cord paralysis	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0003470	HP:0001605	Vocal cord paralysis	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0003470	HP:0001605	Vocal cord paralysis	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	490
HP:0003470	HP:0007024	Pseudobulbar paralysis	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0003470	HP:0001605	Vocal cord paralysis	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003470	HP:0012820	Bilateral vocal cord paralysis	2	CL E G H
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	247
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	247
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0003470	HP:0001604	Vocal cord paresis	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate
HP:0003470	HP:0001604	Vocal cord paresis	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0003470	HP:0001604	Vocal cord paresis	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0003470	HP:0001604	Vocal cord paresis	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.	108
HP:0003470	HP:0001604	Vocal cord paresis	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0003470	HP:0001604	Vocal cord paresis	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2
HP:0003470	HP:0001604	Vocal cord paresis	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	73
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040280 - Obligate	10
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0003470	HP:0007215	Periodic hyperkalemic paralysis	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent	193
HP:0003470	HP:0007215	Periodic hyperkalemic paralysis	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040282 - Frequent	128
HP:0003470	HP:0001604	Vocal cord paresis	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0003470	HP:0001604	Vocal cord paresis	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0003470	HP:0001604	Vocal cord paresis	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0003470	HP:0001604	Vocal cord paresis	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0003470	HP:0008757	Unilateral vocal cord paralysis	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.	2
HP:0003470	HP:0001604	Vocal cord paresis	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	HP:0040283 - Occasional	170
HP:0003470	HP:0007215	Periodic hyperkalemic paralysis	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0003470	HP:0007215	Periodic hyperkalemic paralysis	2	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.	263
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040280 - Obligate	263
HP:0003470	HP:0008153	Periodic hypokalemic paresis	2	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040283 - Occasional	263
HP:0003470	HP:0001604	Vocal cord paresis	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0003470	HP:0001604	Vocal cord paresis	2	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.	9
HP:0003470	HP:0001604	Vocal cord paresis	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0003470	HP:0012822	Bilateral vocal cord paresis	3	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0003470	HP:0012821	Unilateral vocal cord paresis	3	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1		2