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:0031879	HP:0031879	Abnormal eyelid physiology	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy		16
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6		449
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA		115
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy		1
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to		3
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive		4
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type		4
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic		1
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome		140
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome		140
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset		9
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism		21
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy		271
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17		7
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type		42
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0031879	HP:0031879	Abnormal eyelid physiology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0031879	HP:0031880	Eyelid laxity	1	CL E G H
HP:0031879	HP:0000643	Blepharospasm	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0031879	HP:0000643	Blepharospasm	1	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040282 - Frequent	17
HP:0031879	HP:0000643	Blepharospasm	1	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	HP:0040283 - Occasional	17
HP:0031879	HP:0000643	Blepharospasm	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040283 - Occasional	16
HP:0031879	HP:0000658	Eyelid apraxia	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0031879	HP:0000643	Blepharospasm	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0031879	HP:0000643	Blepharospasm	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040283 - Occasional	449
HP:0031879	HP:0000643	Blepharospasm	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0031879	HP:0031785	Abnormal eyelid movement	1	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant		133
HP:0031879	HP:0031785	Abnormal eyelid movement	1	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive		133
HP:0031879	HP:0000643	Blepharospasm	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0031879	HP:0000643	Blepharospasm	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0031879	HP:0000643	Blepharospasm	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	1
HP:0031879	HP:0000643	Blepharospasm	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0031879	HP:0000643	Blepharospasm	1	DRD5 CL E G H	1816	3026	OMIM:606798	Blepharospasm, benign essential, susceptibility to	.	3
HP:0031879	HP:0000643	Blepharospasm	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0031879	HP:0000643	Blepharospasm	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0031879	HP:0000643	Blepharospasm	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0031879	HP:0000643	Blepharospasm	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0031879	HP:0000643	Blepharospasm	1	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0031879	HP:0000643	Blepharospasm	1	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent	4
HP:0031879	HP:0000643	Blepharospasm	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0031879	HP:0000643	Blepharospasm	1	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.	1
HP:0031879	HP:0000643	Blepharospasm	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0031879	HP:0000643	Blepharospasm	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0031879	HP:0000643	Blepharospasm	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040284 - Very rare	140
HP:0031879	HP:0000658	Eyelid apraxia	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.	140
HP:0031879	HP:0000643	Blepharospasm	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities		6
HP:0031879	HP:0000658	Eyelid apraxia	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0031879	HP:0000643	Blepharospasm	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0031879	HP:0000643	Blepharospasm	1	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0031879	HP:0000658	Eyelid apraxia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0031879	HP:0000658	Eyelid apraxia	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0031879	HP:0000643	Blepharospasm	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0031879	HP:0000643	Blepharospasm	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0031879	HP:0000643	Blepharospasm	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0031879	HP:0000643	Blepharospasm	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0031879	HP:0000643	Blepharospasm	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0031879	HP:0000658	Eyelid apraxia	1	SYNJ1 CL E G H	8867	11503	OMIM:615530	Parkinson disease 20, early-onset	.	9
HP:0031879	HP:0000643	Blepharospasm	1	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21
HP:0031879	HP:0000643	Blepharospasm	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional	271
HP:0031879	HP:0000643	Blepharospasm	1	TBP CL E G H	6908	11588	ORPHA:98759	Spinocerebellar ataxia type 17	HP:0040282 - Frequent	7
HP:0031879	HP:0000643	Blepharospasm	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0031879	HP:0000643	Blepharospasm	1	THAP1 CL E G H	55145	20856	ORPHA:98806	Primary dystonia, DYT6 type	HP:0040283 - Occasional	42
HP:0031879	HP:0000643	Blepharospasm	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant	.	47
HP:0031879	HP:0000643	Blepharospasm	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional	66
HP:0031879	HP:0000643	Blepharospasm	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0031879	HP:0000643	Blepharospasm	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130
HP:0031879	HP:0032031	Medial canthal tendon laxity	2	CL E G H
HP:0031879	HP:0032030	Lateral canthal tendon laxity	2	CL E G H
HP:0031879	HP:0032029	Floppy eyelid	2	CL E G H
HP:0031879	HP:0032035	Lower eyelid laxity	2	CL E G H
HP:0031879	HP:0032034	Upper eyelid laxity	2	CL E G H
HP:0031879	HP:0031786	Cogan lid twitch	2	CL E G H
HP:0031879	HP:0032033	Vertical eyelid laxity	2	CL E G H
HP:0031879	HP:0030826	Eyelid fasciculation	2	CL E G H
HP:0031879	HP:0032032	Horizontal eyelid laxity	2	CL E G H
HP:0031879	HP:0025605	Lid lag on downgaze	2	CLCN1 CL E G H	1180	2019	OMIM:160800	Myotonia congenita, autosomal dominant	.	133
HP:0031879	HP:0025605	Lid lag on downgaze	2	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive	.	133