Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001618	HP:0001618	Dysphonia	0	AR CL E G H	367	481				ORPHA	1	649	644	313700
HP:0001618	HP:0001618	Dysphonia	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0001618	HP:0001618	Dysphonia	0	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	1288	1389	601012
HP:0001618	HP:0001618	Dysphonia	0	CIZ1 CL E G H	25792	420492				ORPHA	1	352	16744	611420
HP:0001618	HP:0001618	Dysphonia	0	COQ2 CL E G H	27235	227510				ORPHA	1	346	25223	609825
HP:0001618	HP:0001618	Dysphonia	0	CRYAB CL E G H	1410	399058				ORPHA	1	273	2389	123590
HP:0001618	HP:0001618	Dysphonia	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0001618	HP:0001618	Dysphonia	0	EDA CL E G H	1896	305100	Hypohidrotic X-linked ectodermal dysplasia	305100	C0162359	OMIM	1	602	3157	300451
HP:0001618	HP:0001618	Dysphonia	0	FH CL E G H	2271	29072				ORPHA	1	1798	3700	136850
HP:0001618	HP:0001618	Dysphonia	0	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0001618	HP:0001618	Dysphonia	0	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	185	3999	134790
HP:0001618	HP:0001618	Dysphonia	0	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0001618	HP:0001618	Dysphonia	0	KIF1B CL E G H	23095	29072				ORPHA	1	2591	16636	605995
HP:0001618	HP:0001618	Dysphonia	0	MAX CL E G H	4149	29072				ORPHA	1	483	6913	154950
HP:0001618	HP:0001618	Dysphonia	0	MDH2 CL E G H	4191	29072				ORPHA	1	593	6971	154100
HP:0001618	HP:0001618	Dysphonia	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0001618	HP:0001618	Dysphonia	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0001618	HP:0001618	Dysphonia	0	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0001618	HP:0001618	Dysphonia	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0001618	HP:0001618	Dysphonia	0	PRKRA CL E G H	8575	210571				ORPHA	1	192	9438	603424
HP:0001618	HP:0001618	Dysphonia	0	PRKRA CL E G H	8575	612067	Dystonia 16	612067	C2677567	OMIM	1	192	9438	603424
HP:0001618	HP:0001618	Dysphonia	0	RET CL E G H	5979	29072				ORPHA	1	3165	9967	164761
HP:0001618	HP:0001618	Dysphonia	0	SDHA CL E G H	6389	29072				ORPHA	1	2503	10680	600857
HP:0001618	HP:0001618	Dysphonia	0	SDHAF2 CL E G H	54949	29072				ORPHA	1	502	26034	613019
HP:0001618	HP:0001618	Dysphonia	0	SDHB CL E G H	6390	29072				ORPHA	1	1249	10681	185470
HP:0001618	HP:0001618	Dysphonia	0	SDHC CL E G H	6391	29072				ORPHA	1	798	10682	602413
HP:0001618	HP:0001618	Dysphonia	0	SDHD CL E G H	6392	29072				ORPHA	1	686	10683	602690
HP:0001618	HP:0001618	Dysphonia	0	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0001618	HP:0001618	Dysphonia	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0001618	HP:0001618	Dysphonia	0	THAP1 CL E G H	55145	602629	Dystonia 6, torsion	602629	C1414216	OMIM	1	206	20856	609520
HP:0001618	HP:0001618	Dysphonia	0	TMEM127 CL E G H	55654	29072				ORPHA	1	855	26038	613403
HP:0001618	HP:0001618	Dysphonia	0	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	343	26006	613814
HP:0001618	HP:0001618	Dysphonia	0	TUBB4A CL E G H	10382	128101	Autosomal dominant torsion dystonia 4	128101	C1851943	OMIM	1	272	20774	602662
HP:0001618	HP:0001618	Dysphonia	0	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0001618	HP:0001618	Dysphonia	0	VHL CL E G H	7428	29072				ORPHA	1	1805	12687	608537
HP:0001618	HP:0012049	Laryngeal dystonia	1	AR CL E G H	367	481				ORPHA	1	649	644	313700
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	AR CL E G H	367	481				ORPHA	1	649	644	313700
HP:0001618	HP:0012049	Laryngeal dystonia	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	1288	1389	601012
HP:0001618	HP:0012049	Laryngeal dystonia	1	CACNA1B CL E G H	774	614860	Dystonia 23	614860	C3538999	OMIM	1	1288	1389	601012
HP:0001618	HP:0012049	Laryngeal dystonia	1	CIZ1 CL E G H	25792	420492				ORPHA	1	352	16744	611420
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	CIZ1 CL E G H	25792	420492				ORPHA	1	352	16744	611420
HP:0001618	HP:0012049	Laryngeal dystonia	1	COQ2 CL E G H	27235	227510				ORPHA	1	346	25223	609825
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	COQ2 CL E G H	27235	227510				ORPHA	1	346	25223	609825
HP:0001618	HP:0012049	Laryngeal dystonia	1	CRYAB CL E G H	1410	399058				ORPHA	1	273	2389	123590
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	CRYAB CL E G H	1410	399058				ORPHA	1	273	2389	123590
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0001618	HP:0012049	Laryngeal dystonia	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	239	2858	601465
HP:0001618	HP:0012049	Laryngeal dystonia	1	EDA CL E G H	1896	305100	Hypohidrotic X-linked ectodermal dysplasia	305100	C0162359	OMIM	1	602	3157	300451
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	EDA CL E G H	1896	305100	Hypohidrotic X-linked ectodermal dysplasia	305100	C0162359	OMIM	1	602	3157	300451
HP:0001618	HP:0012049	Laryngeal dystonia	1	FH CL E G H	2271	29072				ORPHA	1	1798	3700	136850
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	FH CL E G H	2271	29072				ORPHA	1	1798	3700	136850
HP:0001618	HP:0012049	Laryngeal dystonia	1	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	FTL CL E G H	2512	157846				ORPHA	1	185	3999	134790
HP:0001618	HP:0012049	Laryngeal dystonia	1	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	185	3999	134790
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	FTL CL E G H	2512	606159	Neuroferritinopathy	606159	C1853578	OMIM	1	185	3999	134790
HP:0001618	HP:0012049	Laryngeal dystonia	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	INPP5K CL E G H	51763	559				ORPHA	1	187	33882	607875
HP:0001618	HP:0012049	Laryngeal dystonia	1	KIF1B CL E G H	23095	29072				ORPHA	1	2591	16636	605995
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	KIF1B CL E G H	23095	29072				ORPHA	1	2591	16636	605995
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	MAX CL E G H	4149	29072				ORPHA	1	483	6913	154950
HP:0001618	HP:0012049	Laryngeal dystonia	1	MAX CL E G H	4149	29072				ORPHA	1	483	6913	154950
HP:0001618	HP:0012049	Laryngeal dystonia	1	MDH2 CL E G H	4191	29072				ORPHA	1	593	6971	154100
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	MDH2 CL E G H	4191	29072				ORPHA	1	593	6971	154100
HP:0001618	HP:0012049	Laryngeal dystonia	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0001618	HP:0012049	Laryngeal dystonia	1	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0001618	HP:0012049	Laryngeal dystonia	1	PANK2 CL E G H	80025	234200	Pigmentary pallidal degeneration	234200	C0018523	OMIM	1	499	15894	606157
HP:0001618	HP:0012049	Laryngeal dystonia	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0001618	HP:0012049	Laryngeal dystonia	1	PRKRA CL E G H	8575	210571				ORPHA	1	192	9438	603424
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	PRKRA CL E G H	8575	210571				ORPHA	1	192	9438	603424
HP:0001618	HP:0012049	Laryngeal dystonia	1	PRKRA CL E G H	8575	612067	Dystonia 16	612067	C2677567	OMIM	1	192	9438	603424
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	PRKRA CL E G H	8575	612067	Dystonia 16	612067	C2677567	OMIM	1	192	9438	603424
HP:0001618	HP:0012049	Laryngeal dystonia	1	RET CL E G H	5979	29072				ORPHA	1	3165	9967	164761
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	RET CL E G H	5979	29072				ORPHA	1	3165	9967	164761
HP:0001618	HP:0012049	Laryngeal dystonia	1	SDHA CL E G H	6389	29072				ORPHA	1	2503	10680	600857
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SDHA CL E G H	6389	29072				ORPHA	1	2503	10680	600857
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SDHAF2 CL E G H	54949	29072				ORPHA	1	502	26034	613019
HP:0001618	HP:0012049	Laryngeal dystonia	1	SDHAF2 CL E G H	54949	29072				ORPHA	1	502	26034	613019
HP:0001618	HP:0012049	Laryngeal dystonia	1	SDHB CL E G H	6390	29072				ORPHA	1	1249	10681	185470
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SDHB CL E G H	6390	29072				ORPHA	1	1249	10681	185470
HP:0001618	HP:0012049	Laryngeal dystonia	1	SDHC CL E G H	6391	29072				ORPHA	1	798	10682	602413
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SDHC CL E G H	6391	29072				ORPHA	1	798	10682	602413
HP:0001618	HP:0012049	Laryngeal dystonia	1	SDHD CL E G H	6392	29072				ORPHA	1	686	10683	602690
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SDHD CL E G H	6392	29072				ORPHA	1	686	10683	602690
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0001618	HP:0012049	Laryngeal dystonia	1	SIL1 CL E G H	64374	559				ORPHA	1	352	24624	608005
HP:0001618	HP:0012049	Laryngeal dystonia	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	THAP1 CL E G H	55145	602629	Dystonia 6, torsion	602629	C1414216	OMIM	1	206	20856	609520
HP:0001618	HP:0012049	Laryngeal dystonia	1	THAP1 CL E G H	55145	602629	Dystonia 6, torsion	602629	C1414216	OMIM	1	206	20856	609520
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	TMEM127 CL E G H	55654	29072				ORPHA	1	855	26038	613403
HP:0001618	HP:0012049	Laryngeal dystonia	1	TMEM127 CL E G H	55654	29072				ORPHA	1	855	26038	613403
HP:0001618	HP:0012049	Laryngeal dystonia	1	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	343	26006	613814
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	TTC19 CL E G H	54902	615157	Mitochondrial complex III deficiency, nuclear type 2	615157	C3554605	OMIM	1	343	26006	613814
HP:0001618	HP:0012049	Laryngeal dystonia	1	TUBB4A CL E G H	10382	128101	Autosomal dominant torsion dystonia 4	128101	C1851943	OMIM	1	272	20774	602662
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	TUBB4A CL E G H	10382	128101	Autosomal dominant torsion dystonia 4	128101	C1851943	OMIM	1	272	20774	602662
HP:0001618	HP:0012049	Laryngeal dystonia	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	TWNK CL E G H	56652	609286	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	609286	C1836439	OMIM	1	450	1160	606075
HP:0001618	HP:0012049	Laryngeal dystonia	1	VHL CL E G H	7428	29072				ORPHA	1	1805	12687	608537
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	VHL CL E G H	7428	29072				ORPHA	1	1805	12687	608537
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001618	HP:0001618	Dysphonia	0	AGRN CL E G H	375790	98914				ORPHA	0	2176	329	103320
HP:0001618	HP:0001618	Dysphonia	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0001618	HP:0001618	Dysphonia	0	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0001618	HP:0001618	Dysphonia	0	CHAT CL E G H	1103	98914				ORPHA	0	984	1912	118490
HP:0001618	HP:0001618	Dysphonia	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0001618	HP:0001618	Dysphonia	0	COL13A1 CL E G H	1305	98914				ORPHA	0	559	2190	120350
HP:0001618	HP:0001618	Dysphonia	0	DGUOK CL E G H	1716	329314				ORPHA	0	239	2858	601465
HP:0001618	HP:0001618	Dysphonia	0	DNAJB2 CL E G H	3300	614881	Spinal muscular atrophy, distal, autosomal recessive, 5	614881	C3553989	OMIM	0	295	5228	604139
HP:0001618	HP:0001618	Dysphonia	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0001618	HP:0001618	Dysphonia	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0001618	HP:0001618	Dysphonia	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0001618	HP:0001618	Dysphonia	0	HSPG2 CL E G H	3339	800				ORPHA	0	2497	5273	142461
HP:0001618	HP:0001618	Dysphonia	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0001618	HP:0001618	Dysphonia	0	MFN2 CL E G H	9927	99947				ORPHA	0	1222	16877	608507
HP:0001618	HP:0001618	Dysphonia	0	MYO9A CL E G H	4649	98914				ORPHA	0	280	7608	604875
HP:0001618	HP:0001618	Dysphonia	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0001618	HP:0001618	Dysphonia	0	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0001618	HP:0001618	Dysphonia	0	SLC18A3 CL E G H	6572	98914				ORPHA	0	305	10936	600336
HP:0001618	HP:0001618	Dysphonia	0	SLC25A1 CL E G H	6576	98914				ORPHA	0	568	10979	190315
HP:0001618	HP:0001618	Dysphonia	0	SLC5A7 CL E G H	60482	98914				ORPHA	0	455	14025	608761
HP:0001618	HP:0001618	Dysphonia	0	SNAP25 CL E G H	6616	98914				ORPHA	0	218	11132	600322
HP:0001618	HP:0001618	Dysphonia	0	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0001618	HP:0001618	Dysphonia	0	SYT2 CL E G H	127833	98914				ORPHA	0	232	11510	600104
HP:0001618	HP:0001618	Dysphonia	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0001618	HP:0001618	Dysphonia	0	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0001618	HP:0001618	Dysphonia	0	VAMP1 CL E G H	6843	98914				ORPHA	0	141	12642	185880
HP:0001618	HP:0012049	Laryngeal dystonia	1	AGRN CL E G H	375790	98914				ORPHA	0	2176	329	103320
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	AGRN CL E G H	375790	98914				ORPHA	0	2176	329	103320
HP:0001618	HP:0012049	Laryngeal dystonia	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	249	961	605681
HP:0001618	HP:0012049	Laryngeal dystonia	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	BIN1 CL E G H	274	169186				ORPHA	0	656	1052	601248
HP:0001618	HP:0012049	Laryngeal dystonia	1	CHAT CL E G H	1103	98914				ORPHA	0	984	1912	118490
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	CHAT CL E G H	1103	98914				ORPHA	0	984	1912	118490
HP:0001618	HP:0012049	Laryngeal dystonia	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	229	2586	603432
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	COL13A1 CL E G H	1305	98914				ORPHA	0	559	2190	120350
HP:0001618	HP:0012049	Laryngeal dystonia	1	COL13A1 CL E G H	1305	98914				ORPHA	0	559	2190	120350
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	DGUOK CL E G H	1716	329314				ORPHA	0	239	2858	601465
HP:0001618	HP:0012049	Laryngeal dystonia	1	DGUOK CL E G H	1716	329314				ORPHA	0	239	2858	601465
HP:0001618	HP:0012049	Laryngeal dystonia	1	DNAJB2 CL E G H	3300	614881	Spinal muscular atrophy, distal, autosomal recessive, 5	614881	C3553989	OMIM	0	295	5228	604139
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	DNAJB2 CL E G H	3300	614881	Spinal muscular atrophy, distal, autosomal recessive, 5	614881	C3553989	OMIM	0	295	5228	604139
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0001618	HP:0012049	Laryngeal dystonia	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	966	3327	130160
HP:0001618	HP:0012049	Laryngeal dystonia	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	178	4659	601679
HP:0001618	HP:0012049	Laryngeal dystonia	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	266	4661	604318
HP:0001618	HP:0012049	Laryngeal dystonia	1	HSPG2 CL E G H	3339	800				ORPHA	0	2497	5273	142461
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	HSPG2 CL E G H	3339	800				ORPHA	0	2497	5273	142461
HP:0001618	HP:0012049	Laryngeal dystonia	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	232	6613	601329
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	MFN2 CL E G H	9927	99947				ORPHA	0	1222	16877	608507
HP:0001618	HP:0012049	Laryngeal dystonia	1	MFN2 CL E G H	9927	99947				ORPHA	0	1222	16877	608507
HP:0001618	HP:0012049	Laryngeal dystonia	1	MYO9A CL E G H	4649	98914				ORPHA	0	280	7608	604875
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	MYO9A CL E G H	4649	98914				ORPHA	0	280	7608	604875
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0001618	HP:0012049	Laryngeal dystonia	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	200	9970	600404
HP:0001618	HP:0012049	Laryngeal dystonia	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	RYR1 CL E G H	6261	169186				ORPHA	0	6164	10483	180901
HP:0001618	HP:0012049	Laryngeal dystonia	1	SLC18A3 CL E G H	6572	98914				ORPHA	0	305	10936	600336
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SLC18A3 CL E G H	6572	98914				ORPHA	0	305	10936	600336
HP:0001618	HP:0012049	Laryngeal dystonia	1	SLC25A1 CL E G H	6576	98914				ORPHA	0	568	10979	190315
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SLC25A1 CL E G H	6576	98914				ORPHA	0	568	10979	190315
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SLC5A7 CL E G H	60482	98914				ORPHA	0	455	14025	608761
HP:0001618	HP:0012049	Laryngeal dystonia	1	SLC5A7 CL E G H	60482	98914				ORPHA	0	455	14025	608761
HP:0001618	HP:0012049	Laryngeal dystonia	1	SNAP25 CL E G H	6616	98914				ORPHA	0	218	11132	600322
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SNAP25 CL E G H	6616	98914				ORPHA	0	218	11132	600322
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0001618	HP:0012049	Laryngeal dystonia	1	SPEG CL E G H	10290	169186				ORPHA	0	1482	16901	615950
HP:0001618	HP:0012049	Laryngeal dystonia	1	SYT2 CL E G H	127833	98914				ORPHA	0	232	11510	600104
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	SYT2 CL E G H	127833	98914				ORPHA	0	232	11510	600104
HP:0001618	HP:0012049	Laryngeal dystonia	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	194	11586	605842
HP:0001618	HP:0012049	Laryngeal dystonia	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	TTN CL E G H	7273	169186				ORPHA	0	27503	12403	188840
HP:0001618	HP:0012049	Laryngeal dystonia	1	VAMP1 CL E G H	6843	98914				ORPHA	0	141	12642	185880
HP:0001618	HP:0007024	Pseudobulbar paralysis	1	VAMP1 CL E G H	6843	98914				ORPHA	0	141	12642	185880