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:0000508	HP:0000508	Ptosis	0	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0000508	Ptosis	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0000508	Ptosis	0	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0000508	Ptosis	0	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0000508	Ptosis	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0000508	Ptosis	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0000508	Ptosis	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0000508	Ptosis	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0000508	Ptosis	0	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0000508	Ptosis	0	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0000508	Ptosis	0	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0000508	Ptosis	0	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0000508	Ptosis	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0000508	Ptosis	0	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0000508	Ptosis	0	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0000508	Ptosis	0	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0000508	Ptosis	0	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0000508	Ptosis	0	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0000508	Ptosis	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0000508	Ptosis	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0000508	Ptosis	0	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0000508	Ptosis	0	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0000508	Ptosis	0	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0000508	Ptosis	0	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0000508	Ptosis	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0000508	Ptosis	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0000508	Ptosis	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0000508	Ptosis	0	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0000508	Ptosis	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0000508	Ptosis	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0000508	Ptosis	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0000508	Ptosis	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0000508	Ptosis	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0000508	Ptosis	0	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0000508	Ptosis	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0000508	Ptosis	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0000508	Ptosis	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0000508	Ptosis	0	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0000508	Ptosis	0	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0000508	Ptosis	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0000508	Ptosis	0	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0000508	Ptosis	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0000508	Ptosis	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0000508	Ptosis	0	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0000508	Ptosis	0	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0000508	Ptosis	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0000508	Ptosis	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0000508	Ptosis	0	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0000508	Ptosis	0	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0000508	Ptosis	0	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0000508	Ptosis	0	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0000508	Ptosis	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0000508	Ptosis	0	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0000508	Ptosis	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0000508	Ptosis	0	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0000508	Ptosis	0	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0000508	Ptosis	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0000508	Ptosis	0	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0000508	Ptosis	0	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0000508	Ptosis	0	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0000508	Ptosis	0	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0000508	Ptosis	0	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0000508	Ptosis	0	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0000508	Ptosis	0	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0000508	Ptosis	0	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0000508	Ptosis	0	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0000508	Ptosis	0	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0000508	Ptosis	0	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0000508	Ptosis	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0000508	Ptosis	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0000508	Ptosis	0	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0000508	Ptosis	0	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0000508	Ptosis	0	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0000508	Ptosis	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0000508	Ptosis	0	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0000508	Ptosis	0	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0000508	Ptosis	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0000508	Ptosis	0	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0000508	Ptosis	0	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0000508	Ptosis	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0000508	Ptosis	0	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0000508	Ptosis	0	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0000508	Ptosis	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0000508	Ptosis	0	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0000508	Ptosis	0	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0000508	Ptosis	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0000508	Ptosis	0	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0000508	Ptosis	0	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0000508	Ptosis	0	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0000508	Ptosis	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0000508	Ptosis	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0000508	Ptosis	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0000508	Ptosis	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0000508	Ptosis	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0000508	Ptosis	0	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0000508	Ptosis	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0000508	Ptosis	0	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0000508	Ptosis	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:0000508	HP:0000508	Ptosis	0	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0000508	Ptosis	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0000508	Ptosis	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0000508	Ptosis	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0000508	Ptosis	0	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0000508	Ptosis	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0000508	Ptosis	0	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0000508	Ptosis	0	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0000508	Ptosis	0	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0000508	Ptosis	0	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0000508	Ptosis	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0000508	Ptosis	0	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0000508	Ptosis	0	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0000508	Ptosis	0	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0000508	Ptosis	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0000508	Ptosis	0	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0000508	Ptosis	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0000508	Ptosis	0	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0000508	Ptosis	0	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0000508	Ptosis	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0000508	Ptosis	0	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0000508	Ptosis	0	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0000508	Ptosis	0	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0000508	Ptosis	0	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0000508	Ptosis	0	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0000508	Ptosis	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0000508	Ptosis	0	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0000508	Ptosis	0	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0000508	Ptosis	0	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0000508	Ptosis	0	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0000508	Ptosis	0	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0000508	Ptosis	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0000508	Ptosis	0	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0000508	Ptosis	0	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0000508	Ptosis	0	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0000508	Ptosis	0	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0000508	Ptosis	0	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0000508	Ptosis	0	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0000508	Ptosis	0	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0000508	Ptosis	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0000508	Ptosis	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0000508	Ptosis	0	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0000508	Ptosis	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0000508	Ptosis	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0000508	Ptosis	0	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0000508	Ptosis	0	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0000508	Ptosis	0	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0000508	Ptosis	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0000508	Ptosis	0	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0000508	Ptosis	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0000508	Ptosis	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0000508	Ptosis	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0000508	Ptosis	0	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0000508	Ptosis	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0000508	Ptosis	0	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0000508	Ptosis	0	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0000508	Ptosis	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0000508	Ptosis	0	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0000508	Ptosis	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0000508	Ptosis	0	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0000508	Ptosis	0	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0000508	Ptosis	0	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0000508	Ptosis	0	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0000508	Ptosis	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0000508	Ptosis	0	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0000508	Ptosis	0	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0000508	Ptosis	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0000508	Ptosis	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0000508	Ptosis	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0000508	Ptosis	0	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0000508	Ptosis	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0000508	Ptosis	0	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0000508	Ptosis	0	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0000508	Ptosis	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0000508	Ptosis	0	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0000508	Ptosis	0	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0000508	Ptosis	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0000508	Ptosis	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0000508	Ptosis	0	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0000508	Ptosis	0	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0000508	Ptosis	0	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0000508	Ptosis	0	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0000508	Ptosis	0	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0000508	Ptosis	0	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0000508	Ptosis	0	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0000508	Ptosis	0	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0000508	Ptosis	0	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0000508	Ptosis	0	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0000508	Ptosis	0	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0000508	Ptosis	0	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0000508	Ptosis	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0000508	Ptosis	0	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0000508	Ptosis	0	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0000508	Ptosis	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0000508	Ptosis	0	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0000508	Ptosis	0	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0000508	Ptosis	0	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0000508	Ptosis	0	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0000508	Ptosis	0	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0000508	Ptosis	0	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0000508	Ptosis	0	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0000508	Ptosis	0	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0000508	Ptosis	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0000508	Ptosis	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0000508	Ptosis	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0000508	Ptosis	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0000508	Ptosis	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0000508	Ptosis	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0000508	Ptosis	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0000508	Ptosis	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0000508	Ptosis	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0000508	Ptosis	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0000508	Ptosis	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0000508	Ptosis	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0000508	Ptosis	0	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0000508	Ptosis	0	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0000508	Ptosis	0	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0000508	Ptosis	0	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0000508	Ptosis	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0000508	Ptosis	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0000508	Ptosis	0	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0000508	Ptosis	0	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0000508	Ptosis	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0000508	Ptosis	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0000508	Ptosis	0	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0000508	Ptosis	0	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0000508	Ptosis	0	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0000508	Ptosis	0	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0000508	Ptosis	0	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0000508	Ptosis	0	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0000508	Ptosis	0	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0000508	Ptosis	0	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0000508	Ptosis	0	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0000508	Ptosis	0	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0000508	Ptosis	0	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0000508	Ptosis	0	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0000508	Ptosis	0	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0000508	Ptosis	0	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0000508	Ptosis	0	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0000508	Ptosis	0	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0000508	Ptosis	0	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0000508	Ptosis	0	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0000508	Ptosis	0	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0000508	Ptosis	0	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0000508	Ptosis	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0000508	Ptosis	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0000508	Ptosis	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0000508	Ptosis	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0000508	Ptosis	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0000508	Ptosis	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0000508	Ptosis	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0000508	Ptosis	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0000508	Ptosis	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0000508	Ptosis	0	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0000508	Ptosis	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0000508	Ptosis	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0000508	Ptosis	0	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0000508	Ptosis	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0000508	Ptosis	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0000508	Ptosis	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0000508	Ptosis	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0000508	Ptosis	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0000508	Ptosis	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0000508	Ptosis	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0000508	Ptosis	0	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0000508	Ptosis	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0000508	Ptosis	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0000508	Ptosis	0	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0000508	Ptosis	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0000508	Ptosis	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0000508	Ptosis	0	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0000508	Ptosis	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0000508	Ptosis	0	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0000508	Ptosis	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0000508	Ptosis	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0000508	Ptosis	0	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0000508	Ptosis	0	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0000508	Ptosis	0	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0000508	Ptosis	0	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0000508	Ptosis	0	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0000508	Ptosis	0	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0000508	Ptosis	0	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0000508	Ptosis	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0000508	Ptosis	0	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0000508	Ptosis	0	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0000508	Ptosis	0	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0000508	Ptosis	0	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0000508	Ptosis	0	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0000508	Ptosis	0	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0000508	Ptosis	0	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0000508	Ptosis	0	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0000508	Ptosis	0	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0000508	Ptosis	0	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0000508	Ptosis	0	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0000508	Ptosis	0	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0000508	Ptosis	0	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0000508	Ptosis	0	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0000508	Ptosis	0	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0000508	Ptosis	0	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0000508	Ptosis	0	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0000508	Ptosis	0	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0000508	Ptosis	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0000508	Ptosis	0	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0000508	Ptosis	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0000508	Ptosis	0	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0000508	Ptosis	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0000508	Ptosis	0	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0000508	Ptosis	0	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0000508	Ptosis	0	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0000508	Ptosis	0	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0000508	Ptosis	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0000508	Ptosis	0	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0000508	Ptosis	0	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0000508	Ptosis	0	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0000508	Ptosis	0	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0000508	Ptosis	0	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0000508	Ptosis	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0000508	Ptosis	0	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0000508	Ptosis	0	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0000508	Ptosis	0	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0000508	Ptosis	0	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0000508	Ptosis	0	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0000508	Ptosis	0	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0000508	Ptosis	0	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0000508	Ptosis	0	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0000508	Ptosis	0	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0000508	Ptosis	0	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0000508	Ptosis	0	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0000508	Ptosis	0	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0000508	Ptosis	0	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0000508	Ptosis	0	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0000508	Ptosis	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0000508	Ptosis	0	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0000508	Ptosis	0	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0000508	Ptosis	0	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0000508	Ptosis	0	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0000508	Ptosis	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0000508	Ptosis	0	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0000508	Ptosis	0	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0000508	Ptosis	0	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0000508	Ptosis	0	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0000508	Ptosis	0	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0000508	Ptosis	0	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0000508	Ptosis	0	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0000508	Ptosis	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0000508	Ptosis	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0000508	Ptosis	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0000508	Ptosis	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0000508	Ptosis	0	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0000508	Ptosis	0	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0000508	Ptosis	0	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0000508	Ptosis	0	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0000508	Ptosis	0	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0000508	Ptosis	0	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0000508	Ptosis	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0000508	Ptosis	0	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0000508	Ptosis	0	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0000508	Ptosis	0	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0000508	Ptosis	0	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0000508	Ptosis	0	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0000508	Ptosis	0	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0000508	Ptosis	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0000508	Ptosis	0	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0000508	Ptosis	0	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0000508	Ptosis	0	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0000508	Ptosis	0	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0000508	Ptosis	0	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0000508	Ptosis	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0000508	Ptosis	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0000508	Ptosis	0	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0000508	Ptosis	0	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0000508	Ptosis	0	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0000508	Ptosis	0	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0000508	Ptosis	0	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0000508	Ptosis	0	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0000508	Ptosis	0	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0000508	Ptosis	0	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0000508	Ptosis	0	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0000508	Ptosis	0	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0000508	Ptosis	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0000508	Ptosis	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0000508	Ptosis	0	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0000508	Ptosis	0	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0000508	Ptosis	0	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0000508	Ptosis	0	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0000508	Ptosis	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0000508	Ptosis	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0000508	Ptosis	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0000508	Ptosis	0	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0000508	Ptosis	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0000508	Ptosis	0	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0000508	Ptosis	0	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0000508	Ptosis	0	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0000508	Ptosis	0	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0000508	Ptosis	0	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0000508	Ptosis	0	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0000508	Ptosis	0	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0000508	Ptosis	0	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0000508	Ptosis	0	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0000508	Ptosis	0	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0000508	Ptosis	0	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0000508	Ptosis	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0000508	Ptosis	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0000508	Ptosis	0	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0000508	Ptosis	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0000508	Ptosis	0	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0000508	Ptosis	0	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0000508	Ptosis	0	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0000508	Ptosis	0	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0000508	Ptosis	0	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0000508	Ptosis	0	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0000508	Ptosis	0	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0000508	Ptosis	0	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0000508	Ptosis	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0000508	Ptosis	0	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0000508	Ptosis	0	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0000508	Ptosis	0	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0000508	Ptosis	0	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0000508	Ptosis	0	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0000508	Ptosis	0	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0000508	Ptosis	0	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0000508	Ptosis	0	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0000508	Ptosis	0	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0000508	Ptosis	0	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0000508	Ptosis	0	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0000508	Ptosis	0	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0000508	Ptosis	0	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0000508	Ptosis	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0000508	Ptosis	0	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0000508	Ptosis	0	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0000508	Ptosis	0	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0000508	Ptosis	0	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0000508	Ptosis	0	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0000508	Ptosis	0	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0000508	Ptosis	0	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0000508	Ptosis	0	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0000508	Ptosis	0	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0000508	Ptosis	0	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0000508	Ptosis	0	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0000508	Ptosis	0	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0000508	Ptosis	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:0000508	HP:0000508	Ptosis	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0000508	Ptosis	0	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0000508	Ptosis	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0000508	Ptosis	0	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0000508	Ptosis	0	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0000508	Ptosis	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0000508	Ptosis	0	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0000508	Ptosis	0	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0000508	Ptosis	0	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0000508	Ptosis	0	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0000508	Ptosis	0	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0000508	Ptosis	0	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0000508	Ptosis	0	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0000508	Ptosis	0	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0000508	Ptosis	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0000508	Ptosis	0	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0000508	Ptosis	0	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0000508	Ptosis	0	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HP:0000508	HP:0002277	Horner syndrome	1	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0001488	Bilateral ptosis	1	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0007970	Congenital ptosis	1	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0007838	Progressive ptosis	1	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0007687	Unilateral ptosis	1	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0002277	Horner syndrome	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0001488	Bilateral ptosis	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0007970	Congenital ptosis	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0007838	Progressive ptosis	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0007687	Unilateral ptosis	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0002277	Horner syndrome	1	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0001488	Bilateral ptosis	1	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0007970	Congenital ptosis	1	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0007838	Progressive ptosis	1	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0007687	Unilateral ptosis	1	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0002277	Horner syndrome	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0007970	Congenital ptosis	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0007838	Progressive ptosis	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0002277	Horner syndrome	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0007970	Congenital ptosis	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0007838	Progressive ptosis	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0002277	Horner syndrome	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0007970	Congenital ptosis	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0007838	Progressive ptosis	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0002277	Horner syndrome	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0007970	Congenital ptosis	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0007838	Progressive ptosis	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0002277	Horner syndrome	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0001488	Bilateral ptosis	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0007970	Congenital ptosis	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0007838	Progressive ptosis	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0007687	Unilateral ptosis	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0002277	Horner syndrome	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0001488	Bilateral ptosis	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0007970	Congenital ptosis	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0007838	Progressive ptosis	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0007687	Unilateral ptosis	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0002277	Horner syndrome	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0001488	Bilateral ptosis	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0007970	Congenital ptosis	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0007838	Progressive ptosis	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0007687	Unilateral ptosis	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0002277	Horner syndrome	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0001488	Bilateral ptosis	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0007970	Congenital ptosis	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0007838	Progressive ptosis	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0007687	Unilateral ptosis	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0002277	Horner syndrome	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0001488	Bilateral ptosis	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0007970	Congenital ptosis	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0007838	Progressive ptosis	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0007687	Unilateral ptosis	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0002277	Horner syndrome	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0001488	Bilateral ptosis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0007970	Congenital ptosis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0007838	Progressive ptosis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0007687	Unilateral ptosis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0002277	Horner syndrome	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0001488	Bilateral ptosis	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0007970	Congenital ptosis	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0007838	Progressive ptosis	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0007687	Unilateral ptosis	1	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0002277	Horner syndrome	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0001488	Bilateral ptosis	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0007970	Congenital ptosis	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0007838	Progressive ptosis	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0007687	Unilateral ptosis	1	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0002277	Horner syndrome	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0001488	Bilateral ptosis	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0007970	Congenital ptosis	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0007838	Progressive ptosis	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0007687	Unilateral ptosis	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0002277	Horner syndrome	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0001488	Bilateral ptosis	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0007970	Congenital ptosis	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0007838	Progressive ptosis	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0007687	Unilateral ptosis	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0002277	Horner syndrome	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0001488	Bilateral ptosis	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0007970	Congenital ptosis	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0007838	Progressive ptosis	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0007687	Unilateral ptosis	1	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0002277	Horner syndrome	1	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0001488	Bilateral ptosis	1	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0007970	Congenital ptosis	1	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0007838	Progressive ptosis	1	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0007687	Unilateral ptosis	1	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0002277	Horner syndrome	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0001488	Bilateral ptosis	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0007970	Congenital ptosis	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0007838	Progressive ptosis	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0007687	Unilateral ptosis	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0002277	Horner syndrome	1	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0001488	Bilateral ptosis	1	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0007970	Congenital ptosis	1	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0007838	Progressive ptosis	1	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0007687	Unilateral ptosis	1	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0002277	Horner syndrome	1	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0001488	Bilateral ptosis	1	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0007970	Congenital ptosis	1	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0007838	Progressive ptosis	1	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0007687	Unilateral ptosis	1	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0002277	Horner syndrome	1	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0001488	Bilateral ptosis	1	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0007970	Congenital ptosis	1	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0007838	Progressive ptosis	1	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0007687	Unilateral ptosis	1	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0002277	Horner syndrome	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0001488	Bilateral ptosis	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0007970	Congenital ptosis	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0007838	Progressive ptosis	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0007687	Unilateral ptosis	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0002277	Horner syndrome	1	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0001488	Bilateral ptosis	1	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0007970	Congenital ptosis	1	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0007838	Progressive ptosis	1	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0007687	Unilateral ptosis	1	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0002277	Horner syndrome	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0001488	Bilateral ptosis	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0007970	Congenital ptosis	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0007838	Progressive ptosis	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0007687	Unilateral ptosis	1	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0002277	Horner syndrome	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0001488	Bilateral ptosis	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0007970	Congenital ptosis	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0007838	Progressive ptosis	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0007687	Unilateral ptosis	1	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0002277	Horner syndrome	1	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0001488	Bilateral ptosis	1	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0007970	Congenital ptosis	1	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0007838	Progressive ptosis	1	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0007687	Unilateral ptosis	1	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0002277	Horner syndrome	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0001488	Bilateral ptosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0007970	Congenital ptosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0007838	Progressive ptosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0007687	Unilateral ptosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0002277	Horner syndrome	1	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0001488	Bilateral ptosis	1	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0007970	Congenital ptosis	1	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0007838	Progressive ptosis	1	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0007687	Unilateral ptosis	1	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0002277	Horner syndrome	1	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0001488	Bilateral ptosis	1	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0007970	Congenital ptosis	1	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0007838	Progressive ptosis	1	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0007687	Unilateral ptosis	1	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0002277	Horner syndrome	1	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0001488	Bilateral ptosis	1	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0007970	Congenital ptosis	1	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0007838	Progressive ptosis	1	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0007687	Unilateral ptosis	1	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0002277	Horner syndrome	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0001488	Bilateral ptosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0007970	Congenital ptosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0007838	Progressive ptosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0007687	Unilateral ptosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0002277	Horner syndrome	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0001488	Bilateral ptosis	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0007970	Congenital ptosis	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0007838	Progressive ptosis	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0007687	Unilateral ptosis	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0002277	Horner syndrome	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0001488	Bilateral ptosis	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0007970	Congenital ptosis	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0007838	Progressive ptosis	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0007687	Unilateral ptosis	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0002277	Horner syndrome	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0001488	Bilateral ptosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0007970	Congenital ptosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0007838	Progressive ptosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0007687	Unilateral ptosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0002277	Horner syndrome	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0001488	Bilateral ptosis	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0007970	Congenital ptosis	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0007838	Progressive ptosis	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0007687	Unilateral ptosis	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0002277	Horner syndrome	1	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0001488	Bilateral ptosis	1	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0007970	Congenital ptosis	1	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0007838	Progressive ptosis	1	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0007687	Unilateral ptosis	1	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0002277	Horner syndrome	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0001488	Bilateral ptosis	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0007970	Congenital ptosis	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0007838	Progressive ptosis	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0007687	Unilateral ptosis	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0002277	Horner syndrome	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0001488	Bilateral ptosis	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0007970	Congenital ptosis	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0007838	Progressive ptosis	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0007687	Unilateral ptosis	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0002277	Horner syndrome	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0001488	Bilateral ptosis	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0007970	Congenital ptosis	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0007838	Progressive ptosis	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0007687	Unilateral ptosis	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0002277	Horner syndrome	1	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0001488	Bilateral ptosis	1	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0007970	Congenital ptosis	1	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0007838	Progressive ptosis	1	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0007687	Unilateral ptosis	1	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0002277	Horner syndrome	1	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0001488	Bilateral ptosis	1	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0007970	Congenital ptosis	1	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0007838	Progressive ptosis	1	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0007687	Unilateral ptosis	1	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0002277	Horner syndrome	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0001488	Bilateral ptosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0007970	Congenital ptosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0007838	Progressive ptosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0007687	Unilateral ptosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0002277	Horner syndrome	1	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0001488	Bilateral ptosis	1	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0007970	Congenital ptosis	1	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0007838	Progressive ptosis	1	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0007687	Unilateral ptosis	1	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0002277	Horner syndrome	1	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0001488	Bilateral ptosis	1	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007970	Congenital ptosis	1	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007838	Progressive ptosis	1	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007687	Unilateral ptosis	1	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0002277	Horner syndrome	1	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0001488	Bilateral ptosis	1	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007970	Congenital ptosis	1	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007838	Progressive ptosis	1	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007687	Unilateral ptosis	1	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0002277	Horner syndrome	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0001488	Bilateral ptosis	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0007970	Congenital ptosis	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0007838	Progressive ptosis	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0007687	Unilateral ptosis	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0002277	Horner syndrome	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0001488	Bilateral ptosis	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0007970	Congenital ptosis	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0007838	Progressive ptosis	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0007687	Unilateral ptosis	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0002277	Horner syndrome	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0001488	Bilateral ptosis	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0007970	Congenital ptosis	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0007838	Progressive ptosis	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0007687	Unilateral ptosis	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0002277	Horner syndrome	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0001488	Bilateral ptosis	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0007970	Congenital ptosis	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0007838	Progressive ptosis	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0007687	Unilateral ptosis	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0002277	Horner syndrome	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0001488	Bilateral ptosis	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0007970	Congenital ptosis	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0007838	Progressive ptosis	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0007687	Unilateral ptosis	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0002277	Horner syndrome	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0001488	Bilateral ptosis	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0007970	Congenital ptosis	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0007838	Progressive ptosis	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0007687	Unilateral ptosis	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0002277	Horner syndrome	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0001488	Bilateral ptosis	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0007970	Congenital ptosis	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0007838	Progressive ptosis	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0007687	Unilateral ptosis	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0002277	Horner syndrome	1	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0001488	Bilateral ptosis	1	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0007970	Congenital ptosis	1	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0007838	Progressive ptosis	1	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0007687	Unilateral ptosis	1	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0002277	Horner syndrome	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0001488	Bilateral ptosis	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0007970	Congenital ptosis	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0007838	Progressive ptosis	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0007687	Unilateral ptosis	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0002277	Horner syndrome	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0001488	Bilateral ptosis	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0007970	Congenital ptosis	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0007838	Progressive ptosis	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0007687	Unilateral ptosis	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0002277	Horner syndrome	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0001488	Bilateral ptosis	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0007970	Congenital ptosis	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0007838	Progressive ptosis	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0007687	Unilateral ptosis	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0002277	Horner syndrome	1	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0001488	Bilateral ptosis	1	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0007970	Congenital ptosis	1	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0007838	Progressive ptosis	1	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0007687	Unilateral ptosis	1	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0002277	Horner syndrome	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0001488	Bilateral ptosis	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0007970	Congenital ptosis	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0007838	Progressive ptosis	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0007687	Unilateral ptosis	1	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0002277	Horner syndrome	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0001488	Bilateral ptosis	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0007970	Congenital ptosis	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0007838	Progressive ptosis	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0007687	Unilateral ptosis	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0002277	Horner syndrome	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0001488	Bilateral ptosis	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0007970	Congenital ptosis	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0007838	Progressive ptosis	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0007687	Unilateral ptosis	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0002277	Horner syndrome	1	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0001488	Bilateral ptosis	1	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0007970	Congenital ptosis	1	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0007838	Progressive ptosis	1	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0007687	Unilateral ptosis	1	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0002277	Horner syndrome	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0001488	Bilateral ptosis	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0007970	Congenital ptosis	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0007838	Progressive ptosis	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0007687	Unilateral ptosis	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0002277	Horner syndrome	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0002277	Horner syndrome	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0002277	Horner syndrome	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0002277	Horner syndrome	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0002277	Horner syndrome	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0002277	Horner syndrome	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0007970	Congenital ptosis	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0007838	Progressive ptosis	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0002277	Horner syndrome	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0007970	Congenital ptosis	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0007838	Progressive ptosis	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0002277	Horner syndrome	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0007970	Congenital ptosis	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0007838	Progressive ptosis	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0002277	Horner syndrome	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0007970	Congenital ptosis	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0007838	Progressive ptosis	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0002277	Horner syndrome	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0002277	Horner syndrome	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0002277	Horner syndrome	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0002277	Horner syndrome	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0002277	Horner syndrome	1	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0002277	Horner syndrome	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0001488	Bilateral ptosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0007970	Congenital ptosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0007838	Progressive ptosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0007687	Unilateral ptosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0002277	Horner syndrome	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0001488	Bilateral ptosis	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0007970	Congenital ptosis	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0007838	Progressive ptosis	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0007687	Unilateral ptosis	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0002277	Horner syndrome	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0001488	Bilateral ptosis	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0007970	Congenital ptosis	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0007838	Progressive ptosis	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0007687	Unilateral ptosis	1	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0002277	Horner syndrome	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0001488	Bilateral ptosis	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0007970	Congenital ptosis	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0007838	Progressive ptosis	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0007687	Unilateral ptosis	1	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0002277	Horner syndrome	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0001488	Bilateral ptosis	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0007970	Congenital ptosis	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0007838	Progressive ptosis	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0007687	Unilateral ptosis	1	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0002277	Horner syndrome	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0001488	Bilateral ptosis	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0007970	Congenital ptosis	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0007838	Progressive ptosis	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0007687	Unilateral ptosis	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0002277	Horner syndrome	1	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0001488	Bilateral ptosis	1	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0007970	Congenital ptosis	1	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0007838	Progressive ptosis	1	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0007687	Unilateral ptosis	1	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0002277	Horner syndrome	1	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0001488	Bilateral ptosis	1	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0007970	Congenital ptosis	1	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0007838	Progressive ptosis	1	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0007687	Unilateral ptosis	1	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0002277	Horner syndrome	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0001488	Bilateral ptosis	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0007970	Congenital ptosis	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0007838	Progressive ptosis	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0007687	Unilateral ptosis	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0002277	Horner syndrome	1	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0001488	Bilateral ptosis	1	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0007970	Congenital ptosis	1	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0007838	Progressive ptosis	1	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0007687	Unilateral ptosis	1	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0002277	Horner syndrome	1	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0001488	Bilateral ptosis	1	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0007970	Congenital ptosis	1	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0007838	Progressive ptosis	1	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0007687	Unilateral ptosis	1	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0002277	Horner syndrome	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0001488	Bilateral ptosis	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0007970	Congenital ptosis	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0007838	Progressive ptosis	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0007687	Unilateral ptosis	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0002277	Horner syndrome	1	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0001488	Bilateral ptosis	1	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0007970	Congenital ptosis	1	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0007838	Progressive ptosis	1	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0007687	Unilateral ptosis	1	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0002277	Horner syndrome	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0001488	Bilateral ptosis	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0007970	Congenital ptosis	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0007838	Progressive ptosis	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0007687	Unilateral ptosis	1	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0002277	Horner syndrome	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0001488	Bilateral ptosis	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0007970	Congenital ptosis	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0007838	Progressive ptosis	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0007687	Unilateral ptosis	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0002277	Horner syndrome	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0001488	Bilateral ptosis	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0007970	Congenital ptosis	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0007838	Progressive ptosis	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0007687	Unilateral ptosis	1	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0002277	Horner syndrome	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0001488	Bilateral ptosis	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0007970	Congenital ptosis	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0007838	Progressive ptosis	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0007687	Unilateral ptosis	1	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0002277	Horner syndrome	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0001488	Bilateral ptosis	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0007970	Congenital ptosis	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0007838	Progressive ptosis	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0007687	Unilateral ptosis	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0002277	Horner syndrome	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0001488	Bilateral ptosis	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0007970	Congenital ptosis	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0007838	Progressive ptosis	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0007687	Unilateral ptosis	1	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0002277	Horner syndrome	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0001488	Bilateral ptosis	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0007970	Congenital ptosis	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0007838	Progressive ptosis	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0007687	Unilateral ptosis	1	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0002277	Horner syndrome	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0001488	Bilateral ptosis	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0007970	Congenital ptosis	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0007838	Progressive ptosis	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0007687	Unilateral ptosis	1	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0002277	Horner syndrome	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0001488	Bilateral ptosis	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0007970	Congenital ptosis	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0007838	Progressive ptosis	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0007687	Unilateral ptosis	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0002277	Horner syndrome	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0001488	Bilateral ptosis	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0007970	Congenital ptosis	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0007838	Progressive ptosis	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0007687	Unilateral ptosis	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0002277	Horner syndrome	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0001488	Bilateral ptosis	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0007970	Congenital ptosis	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0007838	Progressive ptosis	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0007687	Unilateral ptosis	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0002277	Horner syndrome	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0001488	Bilateral ptosis	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0007970	Congenital ptosis	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0007838	Progressive ptosis	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0007687	Unilateral ptosis	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0002277	Horner syndrome	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0001488	Bilateral ptosis	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0007970	Congenital ptosis	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0007838	Progressive ptosis	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0007687	Unilateral ptosis	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0002277	Horner syndrome	1	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0001488	Bilateral ptosis	1	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0007970	Congenital ptosis	1	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0007838	Progressive ptosis	1	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0007687	Unilateral ptosis	1	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0002277	Horner syndrome	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0001488	Bilateral ptosis	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0007970	Congenital ptosis	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0007838	Progressive ptosis	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0007687	Unilateral ptosis	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0002277	Horner syndrome	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0001488	Bilateral ptosis	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0007970	Congenital ptosis	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0007838	Progressive ptosis	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0007687	Unilateral ptosis	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0002277	Horner syndrome	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:0000508	HP:0001488	Bilateral ptosis	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:0000508	HP:0007970	Congenital ptosis	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:0000508	HP:0007838	Progressive ptosis	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:0000508	HP:0007687	Unilateral ptosis	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:0000508	HP:0002277	Horner syndrome	1	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0001488	Bilateral ptosis	1	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0007970	Congenital ptosis	1	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0007838	Progressive ptosis	1	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0007687	Unilateral ptosis	1	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0002277	Horner syndrome	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0001488	Bilateral ptosis	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0007970	Congenital ptosis	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0007838	Progressive ptosis	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0007687	Unilateral ptosis	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0002277	Horner syndrome	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0001488	Bilateral ptosis	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0007970	Congenital ptosis	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0007838	Progressive ptosis	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0007687	Unilateral ptosis	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0002277	Horner syndrome	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0001488	Bilateral ptosis	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0007970	Congenital ptosis	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0007838	Progressive ptosis	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0007687	Unilateral ptosis	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0002277	Horner syndrome	1	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0001488	Bilateral ptosis	1	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0007970	Congenital ptosis	1	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0007838	Progressive ptosis	1	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0007687	Unilateral ptosis	1	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0002277	Horner syndrome	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0001488	Bilateral ptosis	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0007970	Congenital ptosis	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0007838	Progressive ptosis	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0007687	Unilateral ptosis	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0002277	Horner syndrome	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0001488	Bilateral ptosis	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0007970	Congenital ptosis	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0007838	Progressive ptosis	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0007687	Unilateral ptosis	1	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0002277	Horner syndrome	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0001488	Bilateral ptosis	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0007970	Congenital ptosis	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0007838	Progressive ptosis	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0007687	Unilateral ptosis	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0002277	Horner syndrome	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0001488	Bilateral ptosis	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0007970	Congenital ptosis	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0007838	Progressive ptosis	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0007687	Unilateral ptosis	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0002277	Horner syndrome	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0001488	Bilateral ptosis	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0007970	Congenital ptosis	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0007838	Progressive ptosis	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0007687	Unilateral ptosis	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0002277	Horner syndrome	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0001488	Bilateral ptosis	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0007970	Congenital ptosis	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0007838	Progressive ptosis	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0007687	Unilateral ptosis	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0002277	Horner syndrome	1	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0001488	Bilateral ptosis	1	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0007970	Congenital ptosis	1	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0007838	Progressive ptosis	1	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0007687	Unilateral ptosis	1	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0002277	Horner syndrome	1	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0001488	Bilateral ptosis	1	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0007970	Congenital ptosis	1	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0007838	Progressive ptosis	1	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0007687	Unilateral ptosis	1	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0002277	Horner syndrome	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0001488	Bilateral ptosis	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0007970	Congenital ptosis	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0007838	Progressive ptosis	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0007687	Unilateral ptosis	1	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0002277	Horner syndrome	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0001488	Bilateral ptosis	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0007970	Congenital ptosis	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0007838	Progressive ptosis	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0007687	Unilateral ptosis	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0002277	Horner syndrome	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0001488	Bilateral ptosis	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0007970	Congenital ptosis	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0007838	Progressive ptosis	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0007687	Unilateral ptosis	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0002277	Horner syndrome	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0001488	Bilateral ptosis	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0007970	Congenital ptosis	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0007838	Progressive ptosis	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0007687	Unilateral ptosis	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0002277	Horner syndrome	1	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0001488	Bilateral ptosis	1	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0007970	Congenital ptosis	1	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0007838	Progressive ptosis	1	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0007687	Unilateral ptosis	1	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0002277	Horner syndrome	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0001488	Bilateral ptosis	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0007970	Congenital ptosis	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0007838	Progressive ptosis	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0007687	Unilateral ptosis	1	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0002277	Horner syndrome	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0001488	Bilateral ptosis	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0007970	Congenital ptosis	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0007838	Progressive ptosis	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0007687	Unilateral ptosis	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0002277	Horner syndrome	1	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0001488	Bilateral ptosis	1	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0007970	Congenital ptosis	1	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0007838	Progressive ptosis	1	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0007687	Unilateral ptosis	1	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0002277	Horner syndrome	1	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0001488	Bilateral ptosis	1	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0007970	Congenital ptosis	1	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0007838	Progressive ptosis	1	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0007687	Unilateral ptosis	1	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0002277	Horner syndrome	1	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0001488	Bilateral ptosis	1	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0007970	Congenital ptosis	1	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0007838	Progressive ptosis	1	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0007687	Unilateral ptosis	1	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0002277	Horner syndrome	1	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0001488	Bilateral ptosis	1	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0007970	Congenital ptosis	1	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0007838	Progressive ptosis	1	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0007687	Unilateral ptosis	1	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0002277	Horner syndrome	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0002277	Horner syndrome	1	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0002277	Horner syndrome	1	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0002277	Horner syndrome	1	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0002277	Horner syndrome	1	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0002277	Horner syndrome	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0002277	Horner syndrome	1	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0002277	Horner syndrome	1	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0002277	Horner syndrome	1	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0002277	Horner syndrome	1	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0002277	Horner syndrome	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0007970	Congenital ptosis	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0007838	Progressive ptosis	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0002277	Horner syndrome	1	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0001488	Bilateral ptosis	1	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0007970	Congenital ptosis	1	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0007838	Progressive ptosis	1	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0007687	Unilateral ptosis	1	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0002277	Horner syndrome	1	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0001488	Bilateral ptosis	1	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0007970	Congenital ptosis	1	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0007838	Progressive ptosis	1	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0007687	Unilateral ptosis	1	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0002277	Horner syndrome	1	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0001488	Bilateral ptosis	1	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0007970	Congenital ptosis	1	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0007838	Progressive ptosis	1	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0007687	Unilateral ptosis	1	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0002277	Horner syndrome	1	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0001488	Bilateral ptosis	1	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0007970	Congenital ptosis	1	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0007838	Progressive ptosis	1	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0007687	Unilateral ptosis	1	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0002277	Horner syndrome	1	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0001488	Bilateral ptosis	1	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0007970	Congenital ptosis	1	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0007838	Progressive ptosis	1	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0007687	Unilateral ptosis	1	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0002277	Horner syndrome	1	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0001488	Bilateral ptosis	1	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0007970	Congenital ptosis	1	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0007838	Progressive ptosis	1	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0007687	Unilateral ptosis	1	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0002277	Horner syndrome	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0001488	Bilateral ptosis	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0007970	Congenital ptosis	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0007838	Progressive ptosis	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0007687	Unilateral ptosis	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0002277	Horner syndrome	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0001488	Bilateral ptosis	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0007970	Congenital ptosis	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0007838	Progressive ptosis	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0007687	Unilateral ptosis	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0002277	Horner syndrome	1	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0001488	Bilateral ptosis	1	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0007970	Congenital ptosis	1	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0007838	Progressive ptosis	1	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0007687	Unilateral ptosis	1	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0002277	Horner syndrome	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0001488	Bilateral ptosis	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0007970	Congenital ptosis	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0007838	Progressive ptosis	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0007687	Unilateral ptosis	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0002277	Horner syndrome	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0001488	Bilateral ptosis	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0007970	Congenital ptosis	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0007838	Progressive ptosis	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0007687	Unilateral ptosis	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0002277	Horner syndrome	1	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0001488	Bilateral ptosis	1	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0007970	Congenital ptosis	1	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0007838	Progressive ptosis	1	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0007687	Unilateral ptosis	1	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0002277	Horner syndrome	1	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0001488	Bilateral ptosis	1	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0007970	Congenital ptosis	1	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0007838	Progressive ptosis	1	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0007687	Unilateral ptosis	1	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0002277	Horner syndrome	1	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0001488	Bilateral ptosis	1	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0007970	Congenital ptosis	1	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0007838	Progressive ptosis	1	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0007687	Unilateral ptosis	1	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0002277	Horner syndrome	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0001488	Bilateral ptosis	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0007970	Congenital ptosis	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0007838	Progressive ptosis	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0007687	Unilateral ptosis	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0002277	Horner syndrome	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0001488	Bilateral ptosis	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0007970	Congenital ptosis	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0007838	Progressive ptosis	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0007687	Unilateral ptosis	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0002277	Horner syndrome	1	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0001488	Bilateral ptosis	1	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0007970	Congenital ptosis	1	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0007838	Progressive ptosis	1	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0007687	Unilateral ptosis	1	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0002277	Horner syndrome	1	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0001488	Bilateral ptosis	1	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0007970	Congenital ptosis	1	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0007838	Progressive ptosis	1	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0007687	Unilateral ptosis	1	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0002277	Horner syndrome	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0001488	Bilateral ptosis	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0007970	Congenital ptosis	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0007838	Progressive ptosis	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0007687	Unilateral ptosis	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0002277	Horner syndrome	1	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0001488	Bilateral ptosis	1	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0007970	Congenital ptosis	1	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0007838	Progressive ptosis	1	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0007687	Unilateral ptosis	1	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0002277	Horner syndrome	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0001488	Bilateral ptosis	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0007970	Congenital ptosis	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0007838	Progressive ptosis	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0007687	Unilateral ptosis	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0002277	Horner syndrome	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0001488	Bilateral ptosis	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0007970	Congenital ptosis	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0007838	Progressive ptosis	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0007687	Unilateral ptosis	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0002277	Horner syndrome	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0001488	Bilateral ptosis	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0007970	Congenital ptosis	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0007838	Progressive ptosis	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0007687	Unilateral ptosis	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0002277	Horner syndrome	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0001488	Bilateral ptosis	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0007970	Congenital ptosis	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0007838	Progressive ptosis	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0007687	Unilateral ptosis	1	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0002277	Horner syndrome	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0001488	Bilateral ptosis	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0007970	Congenital ptosis	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0007838	Progressive ptosis	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0007687	Unilateral ptosis	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0002277	Horner syndrome	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0001488	Bilateral ptosis	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0007970	Congenital ptosis	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0007838	Progressive ptosis	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0007687	Unilateral ptosis	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0002277	Horner syndrome	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0001488	Bilateral ptosis	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0007970	Congenital ptosis	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0007838	Progressive ptosis	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0007687	Unilateral ptosis	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0002277	Horner syndrome	1	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0001488	Bilateral ptosis	1	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0007970	Congenital ptosis	1	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0007838	Progressive ptosis	1	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0007687	Unilateral ptosis	1	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0002277	Horner syndrome	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0001488	Bilateral ptosis	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0007970	Congenital ptosis	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0007838	Progressive ptosis	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0007687	Unilateral ptosis	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0002277	Horner syndrome	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0001488	Bilateral ptosis	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0007970	Congenital ptosis	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0007838	Progressive ptosis	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0007687	Unilateral ptosis	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0002277	Horner syndrome	1	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0001488	Bilateral ptosis	1	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0007970	Congenital ptosis	1	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0007838	Progressive ptosis	1	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0007687	Unilateral ptosis	1	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0002277	Horner syndrome	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0001488	Bilateral ptosis	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0007970	Congenital ptosis	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0007838	Progressive ptosis	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0007687	Unilateral ptosis	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0002277	Horner syndrome	1	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0001488	Bilateral ptosis	1	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0007970	Congenital ptosis	1	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0007838	Progressive ptosis	1	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0007687	Unilateral ptosis	1	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0002277	Horner syndrome	1	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0001488	Bilateral ptosis	1	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0007970	Congenital ptosis	1	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0007838	Progressive ptosis	1	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0007687	Unilateral ptosis	1	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0002277	Horner syndrome	1	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0001488	Bilateral ptosis	1	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0007970	Congenital ptosis	1	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0007838	Progressive ptosis	1	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0007687	Unilateral ptosis	1	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0002277	Horner syndrome	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0001488	Bilateral ptosis	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0007970	Congenital ptosis	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0007838	Progressive ptosis	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0007687	Unilateral ptosis	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0002277	Horner syndrome	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0001488	Bilateral ptosis	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0007970	Congenital ptosis	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0007838	Progressive ptosis	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0007687	Unilateral ptosis	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0002277	Horner syndrome	1	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0001488	Bilateral ptosis	1	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0007970	Congenital ptosis	1	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0007838	Progressive ptosis	1	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0007687	Unilateral ptosis	1	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0002277	Horner syndrome	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0001488	Bilateral ptosis	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0007970	Congenital ptosis	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0007838	Progressive ptosis	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0007687	Unilateral ptosis	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0002277	Horner syndrome	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0001488	Bilateral ptosis	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0007970	Congenital ptosis	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0007838	Progressive ptosis	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0007687	Unilateral ptosis	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0002277	Horner syndrome	1	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0001488	Bilateral ptosis	1	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0007970	Congenital ptosis	1	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0007838	Progressive ptosis	1	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0007687	Unilateral ptosis	1	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0002277	Horner syndrome	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0001488	Bilateral ptosis	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0007970	Congenital ptosis	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0007838	Progressive ptosis	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0007687	Unilateral ptosis	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0002277	Horner syndrome	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0001488	Bilateral ptosis	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0007970	Congenital ptosis	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0007838	Progressive ptosis	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0007687	Unilateral ptosis	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0002277	Horner syndrome	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0001488	Bilateral ptosis	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0007970	Congenital ptosis	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0007838	Progressive ptosis	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0007687	Unilateral ptosis	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0002277	Horner syndrome	1	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0001488	Bilateral ptosis	1	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0007970	Congenital ptosis	1	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0007838	Progressive ptosis	1	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0007687	Unilateral ptosis	1	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0002277	Horner syndrome	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0001488	Bilateral ptosis	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0007970	Congenital ptosis	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0007838	Progressive ptosis	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0007687	Unilateral ptosis	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0002277	Horner syndrome	1	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0001488	Bilateral ptosis	1	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0007970	Congenital ptosis	1	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0007838	Progressive ptosis	1	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0007687	Unilateral ptosis	1	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0002277	Horner syndrome	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0001488	Bilateral ptosis	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0007970	Congenital ptosis	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0007838	Progressive ptosis	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0007687	Unilateral ptosis	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0002277	Horner syndrome	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0001488	Bilateral ptosis	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0007970	Congenital ptosis	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0007838	Progressive ptosis	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0007687	Unilateral ptosis	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0002277	Horner syndrome	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0001488	Bilateral ptosis	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0007970	Congenital ptosis	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0007838	Progressive ptosis	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0007687	Unilateral ptosis	1	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0002277	Horner syndrome	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0001488	Bilateral ptosis	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0007970	Congenital ptosis	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0007838	Progressive ptosis	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0007687	Unilateral ptosis	1	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0002277	Horner syndrome	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0001488	Bilateral ptosis	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0007970	Congenital ptosis	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0007838	Progressive ptosis	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0007687	Unilateral ptosis	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0002277	Horner syndrome	1	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0001488	Bilateral ptosis	1	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0007970	Congenital ptosis	1	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0007838	Progressive ptosis	1	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0007687	Unilateral ptosis	1	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0002277	Horner syndrome	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0001488	Bilateral ptosis	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0007970	Congenital ptosis	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0007838	Progressive ptosis	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0007687	Unilateral ptosis	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0002277	Horner syndrome	1	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0001488	Bilateral ptosis	1	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0007970	Congenital ptosis	1	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0007838	Progressive ptosis	1	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0007687	Unilateral ptosis	1	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0002277	Horner syndrome	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0001488	Bilateral ptosis	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0007970	Congenital ptosis	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0007838	Progressive ptosis	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0007687	Unilateral ptosis	1	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0002277	Horner syndrome	1	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0001488	Bilateral ptosis	1	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0007970	Congenital ptosis	1	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0007838	Progressive ptosis	1	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0007687	Unilateral ptosis	1	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0002277	Horner syndrome	1	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0001488	Bilateral ptosis	1	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0007970	Congenital ptosis	1	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0007838	Progressive ptosis	1	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0007687	Unilateral ptosis	1	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0002277	Horner syndrome	1	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0001488	Bilateral ptosis	1	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0007970	Congenital ptosis	1	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0007838	Progressive ptosis	1	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0007687	Unilateral ptosis	1	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0002277	Horner syndrome	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0001488	Bilateral ptosis	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0007970	Congenital ptosis	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0007838	Progressive ptosis	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0007687	Unilateral ptosis	1	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0002277	Horner syndrome	1	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0001488	Bilateral ptosis	1	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0007970	Congenital ptosis	1	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0007838	Progressive ptosis	1	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0007687	Unilateral ptosis	1	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0002277	Horner syndrome	1	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0001488	Bilateral ptosis	1	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0007970	Congenital ptosis	1	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0007838	Progressive ptosis	1	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0007687	Unilateral ptosis	1	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0002277	Horner syndrome	1	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0001488	Bilateral ptosis	1	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0007970	Congenital ptosis	1	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0007838	Progressive ptosis	1	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0007687	Unilateral ptosis	1	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0002277	Horner syndrome	1	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0001488	Bilateral ptosis	1	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0007970	Congenital ptosis	1	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0007838	Progressive ptosis	1	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0007687	Unilateral ptosis	1	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0002277	Horner syndrome	1	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0001488	Bilateral ptosis	1	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0007970	Congenital ptosis	1	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0007838	Progressive ptosis	1	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0007687	Unilateral ptosis	1	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0002277	Horner syndrome	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0001488	Bilateral ptosis	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0007970	Congenital ptosis	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0007838	Progressive ptosis	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0007687	Unilateral ptosis	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0002277	Horner syndrome	1	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0001488	Bilateral ptosis	1	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0007970	Congenital ptosis	1	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0007838	Progressive ptosis	1	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0007687	Unilateral ptosis	1	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0002277	Horner syndrome	1	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0001488	Bilateral ptosis	1	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0007970	Congenital ptosis	1	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0007838	Progressive ptosis	1	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0007687	Unilateral ptosis	1	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0002277	Horner syndrome	1	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0001488	Bilateral ptosis	1	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0007970	Congenital ptosis	1	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0007838	Progressive ptosis	1	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0007687	Unilateral ptosis	1	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0002277	Horner syndrome	1	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0001488	Bilateral ptosis	1	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0007970	Congenital ptosis	1	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0007838	Progressive ptosis	1	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0007687	Unilateral ptosis	1	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0002277	Horner syndrome	1	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0001488	Bilateral ptosis	1	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0007970	Congenital ptosis	1	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0007838	Progressive ptosis	1	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0007687	Unilateral ptosis	1	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0002277	Horner syndrome	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0001488	Bilateral ptosis	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0007970	Congenital ptosis	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0007838	Progressive ptosis	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0007687	Unilateral ptosis	1	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0002277	Horner syndrome	1	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0001488	Bilateral ptosis	1	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0007970	Congenital ptosis	1	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0007838	Progressive ptosis	1	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0007687	Unilateral ptosis	1	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0002277	Horner syndrome	1	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0001488	Bilateral ptosis	1	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0007970	Congenital ptosis	1	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0007838	Progressive ptosis	1	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0007687	Unilateral ptosis	1	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0002277	Horner syndrome	1	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0001488	Bilateral ptosis	1	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0007970	Congenital ptosis	1	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0007838	Progressive ptosis	1	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0007687	Unilateral ptosis	1	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0002277	Horner syndrome	1	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0001488	Bilateral ptosis	1	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0007970	Congenital ptosis	1	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0007838	Progressive ptosis	1	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0007687	Unilateral ptosis	1	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0002277	Horner syndrome	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0001488	Bilateral ptosis	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0007970	Congenital ptosis	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0007838	Progressive ptosis	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0007687	Unilateral ptosis	1	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0002277	Horner syndrome	1	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0001488	Bilateral ptosis	1	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0007970	Congenital ptosis	1	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0007838	Progressive ptosis	1	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0007687	Unilateral ptosis	1	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0002277	Horner syndrome	1	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0001488	Bilateral ptosis	1	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0007970	Congenital ptosis	1	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0007838	Progressive ptosis	1	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0007687	Unilateral ptosis	1	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0002277	Horner syndrome	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0007970	Congenital ptosis	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0007838	Progressive ptosis	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0002277	Horner syndrome	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0007970	Congenital ptosis	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0007838	Progressive ptosis	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0002277	Horner syndrome	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0007970	Congenital ptosis	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0007838	Progressive ptosis	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0002277	Horner syndrome	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0007970	Congenital ptosis	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0007838	Progressive ptosis	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0002277	Horner syndrome	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0007970	Congenital ptosis	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0007838	Progressive ptosis	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0002277	Horner syndrome	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0007970	Congenital ptosis	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0007838	Progressive ptosis	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0002277	Horner syndrome	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0007970	Congenital ptosis	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0007838	Progressive ptosis	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0002277	Horner syndrome	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0002277	Horner syndrome	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0002277	Horner syndrome	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0002277	Horner syndrome	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0002277	Horner syndrome	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0002277	Horner syndrome	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0002277	Horner syndrome	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0002277	Horner syndrome	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0002277	Horner syndrome	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0002277	Horner syndrome	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0002277	Horner syndrome	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0002277	Horner syndrome	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0002277	Horner syndrome	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0001488	Bilateral ptosis	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0007970	Congenital ptosis	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0007838	Progressive ptosis	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0007687	Unilateral ptosis	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0002277	Horner syndrome	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0001488	Bilateral ptosis	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0007970	Congenital ptosis	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0007838	Progressive ptosis	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0007687	Unilateral ptosis	1	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0002277	Horner syndrome	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0001488	Bilateral ptosis	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0007970	Congenital ptosis	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0007838	Progressive ptosis	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0007687	Unilateral ptosis	1	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0002277	Horner syndrome	1	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0001488	Bilateral ptosis	1	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0007970	Congenital ptosis	1	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0007838	Progressive ptosis	1	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0007687	Unilateral ptosis	1	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0002277	Horner syndrome	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0001488	Bilateral ptosis	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0007970	Congenital ptosis	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0007838	Progressive ptosis	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0007687	Unilateral ptosis	1	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0002277	Horner syndrome	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0001488	Bilateral ptosis	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0007970	Congenital ptosis	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0007838	Progressive ptosis	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0007687	Unilateral ptosis	1	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0002277	Horner syndrome	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0001488	Bilateral ptosis	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0007970	Congenital ptosis	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0007838	Progressive ptosis	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0007687	Unilateral ptosis	1	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0002277	Horner syndrome	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0001488	Bilateral ptosis	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0007970	Congenital ptosis	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0007838	Progressive ptosis	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0007687	Unilateral ptosis	1	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0002277	Horner syndrome	1	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0001488	Bilateral ptosis	1	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0007970	Congenital ptosis	1	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0007838	Progressive ptosis	1	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0007687	Unilateral ptosis	1	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0002277	Horner syndrome	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0001488	Bilateral ptosis	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0007970	Congenital ptosis	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0007838	Progressive ptosis	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0007687	Unilateral ptosis	1	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0002277	Horner syndrome	1	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0001488	Bilateral ptosis	1	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0007970	Congenital ptosis	1	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0007838	Progressive ptosis	1	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0007687	Unilateral ptosis	1	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0002277	Horner syndrome	1	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0001488	Bilateral ptosis	1	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0007970	Congenital ptosis	1	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0007838	Progressive ptosis	1	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0007687	Unilateral ptosis	1	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0002277	Horner syndrome	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0001488	Bilateral ptosis	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0007970	Congenital ptosis	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0007838	Progressive ptosis	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0007687	Unilateral ptosis	1	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0002277	Horner syndrome	1	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0001488	Bilateral ptosis	1	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0007970	Congenital ptosis	1	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0007838	Progressive ptosis	1	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0007687	Unilateral ptosis	1	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0002277	Horner syndrome	1	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0001488	Bilateral ptosis	1	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0007970	Congenital ptosis	1	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0007838	Progressive ptosis	1	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0007687	Unilateral ptosis	1	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0002277	Horner syndrome	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0001488	Bilateral ptosis	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0007970	Congenital ptosis	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0007838	Progressive ptosis	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0007687	Unilateral ptosis	1	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0002277	Horner syndrome	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0001488	Bilateral ptosis	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0007970	Congenital ptosis	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0007838	Progressive ptosis	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0007687	Unilateral ptosis	1	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0002277	Horner syndrome	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0001488	Bilateral ptosis	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0007970	Congenital ptosis	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0007838	Progressive ptosis	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0007687	Unilateral ptosis	1	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0002277	Horner syndrome	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0001488	Bilateral ptosis	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0007970	Congenital ptosis	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0007838	Progressive ptosis	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0007687	Unilateral ptosis	1	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0002277	Horner syndrome	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0001488	Bilateral ptosis	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0007970	Congenital ptosis	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0007838	Progressive ptosis	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0007687	Unilateral ptosis	1	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0002277	Horner syndrome	1	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0001488	Bilateral ptosis	1	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0007970	Congenital ptosis	1	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0007838	Progressive ptosis	1	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0007687	Unilateral ptosis	1	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0002277	Horner syndrome	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0001488	Bilateral ptosis	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0007970	Congenital ptosis	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0007838	Progressive ptosis	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0007687	Unilateral ptosis	1	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0002277	Horner syndrome	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0002277	Horner syndrome	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0002277	Horner syndrome	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0002277	Horner syndrome	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0002277	Horner syndrome	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0002277	Horner syndrome	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0002277	Horner syndrome	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0002277	Horner syndrome	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0002277	Horner syndrome	1	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0002277	Horner syndrome	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0002277	Horner syndrome	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0002277	Horner syndrome	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0002277	Horner syndrome	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0002277	Horner syndrome	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0001488	Bilateral ptosis	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0007970	Congenital ptosis	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0007838	Progressive ptosis	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0007687	Unilateral ptosis	1	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0002277	Horner syndrome	1	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0001488	Bilateral ptosis	1	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0007970	Congenital ptosis	1	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0007838	Progressive ptosis	1	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0007687	Unilateral ptosis	1	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0002277	Horner syndrome	1	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0001488	Bilateral ptosis	1	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0007970	Congenital ptosis	1	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0007838	Progressive ptosis	1	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0007687	Unilateral ptosis	1	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0002277	Horner syndrome	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0001488	Bilateral ptosis	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0007970	Congenital ptosis	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0007838	Progressive ptosis	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0007687	Unilateral ptosis	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0002277	Horner syndrome	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0001488	Bilateral ptosis	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0007970	Congenital ptosis	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0007838	Progressive ptosis	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0007687	Unilateral ptosis	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0002277	Horner syndrome	1	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0001488	Bilateral ptosis	1	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0007970	Congenital ptosis	1	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0007838	Progressive ptosis	1	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0007687	Unilateral ptosis	1	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0002277	Horner syndrome	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0001488	Bilateral ptosis	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0007970	Congenital ptosis	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0007838	Progressive ptosis	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0007687	Unilateral ptosis	1	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0002277	Horner syndrome	1	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0001488	Bilateral ptosis	1	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0007970	Congenital ptosis	1	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0007838	Progressive ptosis	1	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0007687	Unilateral ptosis	1	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0002277	Horner syndrome	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0001488	Bilateral ptosis	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0007970	Congenital ptosis	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0007838	Progressive ptosis	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0007687	Unilateral ptosis	1	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0002277	Horner syndrome	1	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0001488	Bilateral ptosis	1	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0007970	Congenital ptosis	1	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0007838	Progressive ptosis	1	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0007687	Unilateral ptosis	1	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0002277	Horner syndrome	1	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0001488	Bilateral ptosis	1	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0007970	Congenital ptosis	1	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0007838	Progressive ptosis	1	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0007687	Unilateral ptosis	1	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0002277	Horner syndrome	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0001488	Bilateral ptosis	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0007970	Congenital ptosis	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0007838	Progressive ptosis	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0007687	Unilateral ptosis	1	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0002277	Horner syndrome	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0001488	Bilateral ptosis	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0007970	Congenital ptosis	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0007838	Progressive ptosis	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0007687	Unilateral ptosis	1	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0002277	Horner syndrome	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0001488	Bilateral ptosis	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0007970	Congenital ptosis	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0007838	Progressive ptosis	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0007687	Unilateral ptosis	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0002277	Horner syndrome	1	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0001488	Bilateral ptosis	1	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0007970	Congenital ptosis	1	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0007838	Progressive ptosis	1	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0007687	Unilateral ptosis	1	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0002277	Horner syndrome	1	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0001488	Bilateral ptosis	1	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0007970	Congenital ptosis	1	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0007838	Progressive ptosis	1	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0007687	Unilateral ptosis	1	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0002277	Horner syndrome	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0001488	Bilateral ptosis	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0007970	Congenital ptosis	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0007838	Progressive ptosis	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0007687	Unilateral ptosis	1	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0002277	Horner syndrome	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0001488	Bilateral ptosis	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0007970	Congenital ptosis	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0007838	Progressive ptosis	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0007687	Unilateral ptosis	1	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0002277	Horner syndrome	1	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0001488	Bilateral ptosis	1	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0007970	Congenital ptosis	1	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0007838	Progressive ptosis	1	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0007687	Unilateral ptosis	1	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0002277	Horner syndrome	1	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0001488	Bilateral ptosis	1	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0007970	Congenital ptosis	1	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0007838	Progressive ptosis	1	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0007687	Unilateral ptosis	1	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0002277	Horner syndrome	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0001488	Bilateral ptosis	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0007970	Congenital ptosis	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0007838	Progressive ptosis	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0007687	Unilateral ptosis	1	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0002277	Horner syndrome	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0001488	Bilateral ptosis	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0007970	Congenital ptosis	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0007838	Progressive ptosis	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0007687	Unilateral ptosis	1	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0002277	Horner syndrome	1	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0007970	Congenital ptosis	1	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0007838	Progressive ptosis	1	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0002277	Horner syndrome	1	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0007970	Congenital ptosis	1	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0007838	Progressive ptosis	1	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0002277	Horner syndrome	1	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0007970	Congenital ptosis	1	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0007838	Progressive ptosis	1	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0002277	Horner syndrome	1	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0007970	Congenital ptosis	1	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0007838	Progressive ptosis	1	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0002277	Horner syndrome	1	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0007970	Congenital ptosis	1	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0007838	Progressive ptosis	1	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0002277	Horner syndrome	1	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0007970	Congenital ptosis	1	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0007838	Progressive ptosis	1	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0002277	Horner syndrome	1	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0007970	Congenital ptosis	1	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0007838	Progressive ptosis	1	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0002277	Horner syndrome	1	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0007970	Congenital ptosis	1	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0007838	Progressive ptosis	1	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0002277	Horner syndrome	1	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0007970	Congenital ptosis	1	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0007838	Progressive ptosis	1	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0002277	Horner syndrome	1	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0007970	Congenital ptosis	1	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0007838	Progressive ptosis	1	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0002277	Horner syndrome	1	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0007970	Congenital ptosis	1	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0007838	Progressive ptosis	1	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0002277	Horner syndrome	1	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0007970	Congenital ptosis	1	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0007838	Progressive ptosis	1	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0002277	Horner syndrome	1	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0007970	Congenital ptosis	1	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0007838	Progressive ptosis	1	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0002277	Horner syndrome	1	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0007970	Congenital ptosis	1	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0007838	Progressive ptosis	1	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0002277	Horner syndrome	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0001488	Bilateral ptosis	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0007970	Congenital ptosis	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0007838	Progressive ptosis	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0007687	Unilateral ptosis	1	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0002277	Horner syndrome	1	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0001488	Bilateral ptosis	1	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0007970	Congenital ptosis	1	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0007838	Progressive ptosis	1	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0007687	Unilateral ptosis	1	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0002277	Horner syndrome	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0001488	Bilateral ptosis	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0007970	Congenital ptosis	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0007838	Progressive ptosis	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0007687	Unilateral ptosis	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0002277	Horner syndrome	1	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0001488	Bilateral ptosis	1	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0007970	Congenital ptosis	1	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0007838	Progressive ptosis	1	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0007687	Unilateral ptosis	1	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0002277	Horner syndrome	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0001488	Bilateral ptosis	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0007970	Congenital ptosis	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0007838	Progressive ptosis	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0007687	Unilateral ptosis	1	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0002277	Horner syndrome	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0001488	Bilateral ptosis	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0007970	Congenital ptosis	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0007838	Progressive ptosis	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0007687	Unilateral ptosis	1	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0002277	Horner syndrome	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0001488	Bilateral ptosis	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0007970	Congenital ptosis	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0007838	Progressive ptosis	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0007687	Unilateral ptosis	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0002277	Horner syndrome	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0001488	Bilateral ptosis	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0007970	Congenital ptosis	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0007838	Progressive ptosis	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0007687	Unilateral ptosis	1	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0002277	Horner syndrome	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0001488	Bilateral ptosis	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0007970	Congenital ptosis	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0007838	Progressive ptosis	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0007687	Unilateral ptosis	1	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0002277	Horner syndrome	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0001488	Bilateral ptosis	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0007970	Congenital ptosis	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0007838	Progressive ptosis	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0007687	Unilateral ptosis	1	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0002277	Horner syndrome	1	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0001488	Bilateral ptosis	1	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0007970	Congenital ptosis	1	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0007838	Progressive ptosis	1	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0007687	Unilateral ptosis	1	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0002277	Horner syndrome	1	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0001488	Bilateral ptosis	1	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0007970	Congenital ptosis	1	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0007838	Progressive ptosis	1	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0007687	Unilateral ptosis	1	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0002277	Horner syndrome	1	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0001488	Bilateral ptosis	1	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0007970	Congenital ptosis	1	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0007838	Progressive ptosis	1	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0007687	Unilateral ptosis	1	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0002277	Horner syndrome	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0001488	Bilateral ptosis	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0007970	Congenital ptosis	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0007838	Progressive ptosis	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0007687	Unilateral ptosis	1	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0002277	Horner syndrome	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0001488	Bilateral ptosis	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0007970	Congenital ptosis	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0007838	Progressive ptosis	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0007687	Unilateral ptosis	1	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0007970	Congenital ptosis	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0007838	Progressive ptosis	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0002277	Horner syndrome	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0007970	Congenital ptosis	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0007838	Progressive ptosis	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0002277	Horner syndrome	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0001488	Bilateral ptosis	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0007970	Congenital ptosis	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0007838	Progressive ptosis	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0007687	Unilateral ptosis	1	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0002277	Horner syndrome	1	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0001488	Bilateral ptosis	1	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0007970	Congenital ptosis	1	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0007838	Progressive ptosis	1	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0007687	Unilateral ptosis	1	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0002277	Horner syndrome	1	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0001488	Bilateral ptosis	1	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0007970	Congenital ptosis	1	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0007838	Progressive ptosis	1	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0007687	Unilateral ptosis	1	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0002277	Horner syndrome	1	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0001488	Bilateral ptosis	1	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0007970	Congenital ptosis	1	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0007838	Progressive ptosis	1	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0007687	Unilateral ptosis	1	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0002277	Horner syndrome	1	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0001488	Bilateral ptosis	1	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0007970	Congenital ptosis	1	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0007838	Progressive ptosis	1	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0007687	Unilateral ptosis	1	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0002277	Horner syndrome	1	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0001488	Bilateral ptosis	1	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0007970	Congenital ptosis	1	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0007838	Progressive ptosis	1	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0007687	Unilateral ptosis	1	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0002277	Horner syndrome	1	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0001488	Bilateral ptosis	1	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0007970	Congenital ptosis	1	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0007838	Progressive ptosis	1	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0007687	Unilateral ptosis	1	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0002277	Horner syndrome	1	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0001488	Bilateral ptosis	1	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0007970	Congenital ptosis	1	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0007838	Progressive ptosis	1	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0007687	Unilateral ptosis	1	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0002277	Horner syndrome	1	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0001488	Bilateral ptosis	1	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0007970	Congenital ptosis	1	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0007838	Progressive ptosis	1	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0007687	Unilateral ptosis	1	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0002277	Horner syndrome	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0001488	Bilateral ptosis	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0007970	Congenital ptosis	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0007838	Progressive ptosis	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0007687	Unilateral ptosis	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0002277	Horner syndrome	1	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0001488	Bilateral ptosis	1	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0007970	Congenital ptosis	1	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0007838	Progressive ptosis	1	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0007687	Unilateral ptosis	1	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0002277	Horner syndrome	1	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0001488	Bilateral ptosis	1	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0007970	Congenital ptosis	1	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0007838	Progressive ptosis	1	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0007687	Unilateral ptosis	1	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0002277	Horner syndrome	1	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0001488	Bilateral ptosis	1	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0007970	Congenital ptosis	1	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0007838	Progressive ptosis	1	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0007687	Unilateral ptosis	1	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0002277	Horner syndrome	1	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0001488	Bilateral ptosis	1	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0007970	Congenital ptosis	1	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0007838	Progressive ptosis	1	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0007687	Unilateral ptosis	1	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0002277	Horner syndrome	1	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0001488	Bilateral ptosis	1	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0007970	Congenital ptosis	1	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0007838	Progressive ptosis	1	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0007687	Unilateral ptosis	1	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0002277	Horner syndrome	1	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0001488	Bilateral ptosis	1	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0007970	Congenital ptosis	1	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0007838	Progressive ptosis	1	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0007687	Unilateral ptosis	1	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0002277	Horner syndrome	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0001488	Bilateral ptosis	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0007970	Congenital ptosis	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0007838	Progressive ptosis	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0007687	Unilateral ptosis	1	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0002277	Horner syndrome	1	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0001488	Bilateral ptosis	1	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0007970	Congenital ptosis	1	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0007838	Progressive ptosis	1	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0007687	Unilateral ptosis	1	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0002277	Horner syndrome	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0001488	Bilateral ptosis	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0007970	Congenital ptosis	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0007838	Progressive ptosis	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0007687	Unilateral ptosis	1	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0002277	Horner syndrome	1	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0001488	Bilateral ptosis	1	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0007970	Congenital ptosis	1	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0007838	Progressive ptosis	1	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0007687	Unilateral ptosis	1	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0002277	Horner syndrome	1	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0001488	Bilateral ptosis	1	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0007970	Congenital ptosis	1	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0007838	Progressive ptosis	1	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0007687	Unilateral ptosis	1	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0002277	Horner syndrome	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0001488	Bilateral ptosis	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0007970	Congenital ptosis	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0007838	Progressive ptosis	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0007687	Unilateral ptosis	1	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0002277	Horner syndrome	1	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0001488	Bilateral ptosis	1	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0007970	Congenital ptosis	1	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0007838	Progressive ptosis	1	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0007687	Unilateral ptosis	1	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0002277	Horner syndrome	1	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0001488	Bilateral ptosis	1	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0007970	Congenital ptosis	1	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0007838	Progressive ptosis	1	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0007687	Unilateral ptosis	1	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0002277	Horner syndrome	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0001488	Bilateral ptosis	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0007970	Congenital ptosis	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0007838	Progressive ptosis	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0007687	Unilateral ptosis	1	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0002277	Horner syndrome	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0001488	Bilateral ptosis	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0007970	Congenital ptosis	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0007838	Progressive ptosis	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0007687	Unilateral ptosis	1	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0002277	Horner syndrome	1	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0001488	Bilateral ptosis	1	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0007970	Congenital ptosis	1	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0007838	Progressive ptosis	1	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0007687	Unilateral ptosis	1	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0002277	Horner syndrome	1	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0001488	Bilateral ptosis	1	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0007970	Congenital ptosis	1	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0007838	Progressive ptosis	1	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0007687	Unilateral ptosis	1	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0002277	Horner syndrome	1	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0001488	Bilateral ptosis	1	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0007970	Congenital ptosis	1	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0007838	Progressive ptosis	1	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0007687	Unilateral ptosis	1	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0002277	Horner syndrome	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0001488	Bilateral ptosis	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0007970	Congenital ptosis	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0007838	Progressive ptosis	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0007687	Unilateral ptosis	1	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0002277	Horner syndrome	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0001488	Bilateral ptosis	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0007970	Congenital ptosis	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0007838	Progressive ptosis	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0007687	Unilateral ptosis	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0002277	Horner syndrome	1	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0001488	Bilateral ptosis	1	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0007970	Congenital ptosis	1	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0007838	Progressive ptosis	1	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0007687	Unilateral ptosis	1	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0002277	Horner syndrome	1	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0001488	Bilateral ptosis	1	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007970	Congenital ptosis	1	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007838	Progressive ptosis	1	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007687	Unilateral ptosis	1	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0002277	Horner syndrome	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0001488	Bilateral ptosis	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007970	Congenital ptosis	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007838	Progressive ptosis	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007687	Unilateral ptosis	1	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0002277	Horner syndrome	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0001488	Bilateral ptosis	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0007970	Congenital ptosis	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0007838	Progressive ptosis	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0007687	Unilateral ptosis	1	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0002277	Horner syndrome	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0001488	Bilateral ptosis	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0007970	Congenital ptosis	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0007838	Progressive ptosis	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0007687	Unilateral ptosis	1	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0002277	Horner syndrome	1	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0001488	Bilateral ptosis	1	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0007970	Congenital ptosis	1	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0007838	Progressive ptosis	1	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0007687	Unilateral ptosis	1	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0002277	Horner syndrome	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0001488	Bilateral ptosis	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0007970	Congenital ptosis	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0007838	Progressive ptosis	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0007687	Unilateral ptosis	1	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0002277	Horner syndrome	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0001488	Bilateral ptosis	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0007970	Congenital ptosis	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0007838	Progressive ptosis	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0007687	Unilateral ptosis	1	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0002277	Horner syndrome	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0001488	Bilateral ptosis	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0007970	Congenital ptosis	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0007838	Progressive ptosis	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0007687	Unilateral ptosis	1	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0002277	Horner syndrome	1	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0001488	Bilateral ptosis	1	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0007970	Congenital ptosis	1	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0007838	Progressive ptosis	1	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0007687	Unilateral ptosis	1	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0002277	Horner syndrome	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0001488	Bilateral ptosis	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0007970	Congenital ptosis	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0007838	Progressive ptosis	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0007687	Unilateral ptosis	1	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0002277	Horner syndrome	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0001488	Bilateral ptosis	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0007970	Congenital ptosis	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0007838	Progressive ptosis	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0007687	Unilateral ptosis	1	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0002277	Horner syndrome	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0001488	Bilateral ptosis	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0007970	Congenital ptosis	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0007838	Progressive ptosis	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0007687	Unilateral ptosis	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0002277	Horner syndrome	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0001488	Bilateral ptosis	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0007970	Congenital ptosis	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0007838	Progressive ptosis	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0007687	Unilateral ptosis	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0002277	Horner syndrome	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0001488	Bilateral ptosis	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0007970	Congenital ptosis	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0007838	Progressive ptosis	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0007687	Unilateral ptosis	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0002277	Horner syndrome	1	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0001488	Bilateral ptosis	1	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0007970	Congenital ptosis	1	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0007838	Progressive ptosis	1	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0007687	Unilateral ptosis	1	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0002277	Horner syndrome	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0001488	Bilateral ptosis	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0007970	Congenital ptosis	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0007838	Progressive ptosis	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0007687	Unilateral ptosis	1	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0002277	Horner syndrome	1	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0001488	Bilateral ptosis	1	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0007970	Congenital ptosis	1	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0007838	Progressive ptosis	1	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0007687	Unilateral ptosis	1	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0002277	Horner syndrome	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0001488	Bilateral ptosis	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0007970	Congenital ptosis	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0007838	Progressive ptosis	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0007687	Unilateral ptosis	1	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0002277	Horner syndrome	1	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0001488	Bilateral ptosis	1	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0007970	Congenital ptosis	1	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0007838	Progressive ptosis	1	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0007687	Unilateral ptosis	1	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0002277	Horner syndrome	1	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0001488	Bilateral ptosis	1	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0007970	Congenital ptosis	1	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0007838	Progressive ptosis	1	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0007687	Unilateral ptosis	1	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0002277	Horner syndrome	1	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0001488	Bilateral ptosis	1	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0007970	Congenital ptosis	1	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0007838	Progressive ptosis	1	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0007687	Unilateral ptosis	1	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0002277	Horner syndrome	1	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0001488	Bilateral ptosis	1	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0007970	Congenital ptosis	1	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0007838	Progressive ptosis	1	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0007687	Unilateral ptosis	1	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0002277	Horner syndrome	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0001488	Bilateral ptosis	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0007970	Congenital ptosis	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0007838	Progressive ptosis	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0007687	Unilateral ptosis	1	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0002277	Horner syndrome	1	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0001488	Bilateral ptosis	1	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0007970	Congenital ptosis	1	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0007838	Progressive ptosis	1	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0007687	Unilateral ptosis	1	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0002277	Horner syndrome	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0001488	Bilateral ptosis	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0007970	Congenital ptosis	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0007838	Progressive ptosis	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0007687	Unilateral ptosis	1	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0002277	Horner syndrome	1	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0001488	Bilateral ptosis	1	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0007970	Congenital ptosis	1	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0007838	Progressive ptosis	1	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0007687	Unilateral ptosis	1	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0002277	Horner syndrome	1	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0001488	Bilateral ptosis	1	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0007970	Congenital ptosis	1	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0007838	Progressive ptosis	1	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0007687	Unilateral ptosis	1	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0002277	Horner syndrome	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0007970	Congenital ptosis	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0007838	Progressive ptosis	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0002277	Horner syndrome	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0007970	Congenital ptosis	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0007838	Progressive ptosis	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0002277	Horner syndrome	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0007970	Congenital ptosis	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0007838	Progressive ptosis	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0002277	Horner syndrome	1	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0007970	Congenital ptosis	1	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0007838	Progressive ptosis	1	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0002277	Horner syndrome	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0007970	Congenital ptosis	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0007838	Progressive ptosis	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0002277	Horner syndrome	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0007970	Congenital ptosis	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0007838	Progressive ptosis	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0002277	Horner syndrome	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0007970	Congenital ptosis	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0007838	Progressive ptosis	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0002277	Horner syndrome	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0007970	Congenital ptosis	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0007838	Progressive ptosis	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0002277	Horner syndrome	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0007970	Congenital ptosis	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0007838	Progressive ptosis	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0002277	Horner syndrome	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0007970	Congenital ptosis	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0007838	Progressive ptosis	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0002277	Horner syndrome	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0007970	Congenital ptosis	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0007838	Progressive ptosis	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0002277	Horner syndrome	1	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0007970	Congenital ptosis	1	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0007838	Progressive ptosis	1	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0002277	Horner syndrome	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0007970	Congenital ptosis	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0007838	Progressive ptosis	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0002277	Horner syndrome	1	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0007970	Congenital ptosis	1	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0007838	Progressive ptosis	1	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0002277	Horner syndrome	1	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0007970	Congenital ptosis	1	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0007838	Progressive ptosis	1	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0002277	Horner syndrome	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0007970	Congenital ptosis	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0007838	Progressive ptosis	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0002277	Horner syndrome	1	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0007970	Congenital ptosis	1	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0007838	Progressive ptosis	1	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0002277	Horner syndrome	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0007970	Congenital ptosis	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0007838	Progressive ptosis	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0002277	Horner syndrome	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0007970	Congenital ptosis	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0007838	Progressive ptosis	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0002277	Horner syndrome	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0007970	Congenital ptosis	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0007838	Progressive ptosis	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0002277	Horner syndrome	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0007970	Congenital ptosis	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0007838	Progressive ptosis	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0002277	Horner syndrome	1	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0001488	Bilateral ptosis	1	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0007970	Congenital ptosis	1	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0007838	Progressive ptosis	1	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0007687	Unilateral ptosis	1	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0002277	Horner syndrome	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0001488	Bilateral ptosis	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0007970	Congenital ptosis	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0007838	Progressive ptosis	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0007687	Unilateral ptosis	1	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0002277	Horner syndrome	1	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0001488	Bilateral ptosis	1	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0007970	Congenital ptosis	1	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0007838	Progressive ptosis	1	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0007687	Unilateral ptosis	1	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0002277	Horner syndrome	1	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0001488	Bilateral ptosis	1	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0007970	Congenital ptosis	1	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0007838	Progressive ptosis	1	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0007687	Unilateral ptosis	1	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0002277	Horner syndrome	1	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0001488	Bilateral ptosis	1	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0007970	Congenital ptosis	1	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0007838	Progressive ptosis	1	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0007687	Unilateral ptosis	1	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0002277	Horner syndrome	1	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0001488	Bilateral ptosis	1	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0007970	Congenital ptosis	1	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0007838	Progressive ptosis	1	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0007687	Unilateral ptosis	1	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0002277	Horner syndrome	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0001488	Bilateral ptosis	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0007970	Congenital ptosis	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0007838	Progressive ptosis	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0007687	Unilateral ptosis	1	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0002277	Horner syndrome	1	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0001488	Bilateral ptosis	1	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0007970	Congenital ptosis	1	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0007838	Progressive ptosis	1	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0007687	Unilateral ptosis	1	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0002277	Horner syndrome	1	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0001488	Bilateral ptosis	1	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0007970	Congenital ptosis	1	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0007838	Progressive ptosis	1	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0007687	Unilateral ptosis	1	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0002277	Horner syndrome	1	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0001488	Bilateral ptosis	1	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0007970	Congenital ptosis	1	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0007838	Progressive ptosis	1	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0007687	Unilateral ptosis	1	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0002277	Horner syndrome	1	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0001488	Bilateral ptosis	1	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0007970	Congenital ptosis	1	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0007838	Progressive ptosis	1	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0007687	Unilateral ptosis	1	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0002277	Horner syndrome	1	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0001488	Bilateral ptosis	1	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0007970	Congenital ptosis	1	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0007838	Progressive ptosis	1	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0007687	Unilateral ptosis	1	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0002277	Horner syndrome	1	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0001488	Bilateral ptosis	1	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0007970	Congenital ptosis	1	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0007838	Progressive ptosis	1	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0007687	Unilateral ptosis	1	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0002277	Horner syndrome	1	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0001488	Bilateral ptosis	1	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0007970	Congenital ptosis	1	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0007838	Progressive ptosis	1	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0007687	Unilateral ptosis	1	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0002277	Horner syndrome	1	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0001488	Bilateral ptosis	1	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0007970	Congenital ptosis	1	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0007838	Progressive ptosis	1	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0007687	Unilateral ptosis	1	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0002277	Horner syndrome	1	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0001488	Bilateral ptosis	1	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0007970	Congenital ptosis	1	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0007838	Progressive ptosis	1	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0007687	Unilateral ptosis	1	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0002277	Horner syndrome	1	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0001488	Bilateral ptosis	1	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0007970	Congenital ptosis	1	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0007838	Progressive ptosis	1	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0007687	Unilateral ptosis	1	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0002277	Horner syndrome	1	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0001488	Bilateral ptosis	1	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0007970	Congenital ptosis	1	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0007838	Progressive ptosis	1	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0007687	Unilateral ptosis	1	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0002277	Horner syndrome	1	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0001488	Bilateral ptosis	1	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0007970	Congenital ptosis	1	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0007838	Progressive ptosis	1	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0007687	Unilateral ptosis	1	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0002277	Horner syndrome	1	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0001488	Bilateral ptosis	1	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0007970	Congenital ptosis	1	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0007838	Progressive ptosis	1	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0007687	Unilateral ptosis	1	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0002277	Horner syndrome	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0001488	Bilateral ptosis	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0007970	Congenital ptosis	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0007838	Progressive ptosis	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0007687	Unilateral ptosis	1	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0002277	Horner syndrome	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0001488	Bilateral ptosis	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0007970	Congenital ptosis	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0007838	Progressive ptosis	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0007687	Unilateral ptosis	1	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0002277	Horner syndrome	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0001488	Bilateral ptosis	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0007970	Congenital ptosis	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0007838	Progressive ptosis	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0007687	Unilateral ptosis	1	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0002277	Horner syndrome	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0001488	Bilateral ptosis	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0007970	Congenital ptosis	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0007838	Progressive ptosis	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0007687	Unilateral ptosis	1	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0002277	Horner syndrome	1	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0001488	Bilateral ptosis	1	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0007970	Congenital ptosis	1	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0007838	Progressive ptosis	1	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0007687	Unilateral ptosis	1	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0002277	Horner syndrome	1	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0001488	Bilateral ptosis	1	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0007970	Congenital ptosis	1	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0007838	Progressive ptosis	1	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0007687	Unilateral ptosis	1	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0002277	Horner syndrome	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0001488	Bilateral ptosis	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0007970	Congenital ptosis	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0007838	Progressive ptosis	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0007687	Unilateral ptosis	1	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0002277	Horner syndrome	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0001488	Bilateral ptosis	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0007970	Congenital ptosis	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0007838	Progressive ptosis	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0007687	Unilateral ptosis	1	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0002277	Horner syndrome	1	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0001488	Bilateral ptosis	1	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0007970	Congenital ptosis	1	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0007838	Progressive ptosis	1	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0007687	Unilateral ptosis	1	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0002277	Horner syndrome	1	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0001488	Bilateral ptosis	1	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0007970	Congenital ptosis	1	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0007838	Progressive ptosis	1	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0007687	Unilateral ptosis	1	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0002277	Horner syndrome	1	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0001488	Bilateral ptosis	1	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0007970	Congenital ptosis	1	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0007838	Progressive ptosis	1	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0007687	Unilateral ptosis	1	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0002277	Horner syndrome	1	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0001488	Bilateral ptosis	1	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0007970	Congenital ptosis	1	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0007838	Progressive ptosis	1	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0007687	Unilateral ptosis	1	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0002277	Horner syndrome	1	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0001488	Bilateral ptosis	1	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0007970	Congenital ptosis	1	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0007838	Progressive ptosis	1	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0007687	Unilateral ptosis	1	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0002277	Horner syndrome	1	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0001488	Bilateral ptosis	1	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0007970	Congenital ptosis	1	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0007838	Progressive ptosis	1	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0007687	Unilateral ptosis	1	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0002277	Horner syndrome	1	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0001488	Bilateral ptosis	1	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0007970	Congenital ptosis	1	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0007838	Progressive ptosis	1	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0007687	Unilateral ptosis	1	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0002277	Horner syndrome	1	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0001488	Bilateral ptosis	1	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0007970	Congenital ptosis	1	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0007838	Progressive ptosis	1	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0007687	Unilateral ptosis	1	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0002277	Horner syndrome	1	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0001488	Bilateral ptosis	1	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0007970	Congenital ptosis	1	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0007838	Progressive ptosis	1	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0007687	Unilateral ptosis	1	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0002277	Horner syndrome	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0001488	Bilateral ptosis	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0007970	Congenital ptosis	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0007838	Progressive ptosis	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0007687	Unilateral ptosis	1	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0002277	Horner syndrome	1	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0001488	Bilateral ptosis	1	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0007970	Congenital ptosis	1	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0007838	Progressive ptosis	1	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0007687	Unilateral ptosis	1	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0002277	Horner syndrome	1	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0002277	Horner syndrome	1	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0002277	Horner syndrome	1	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0002277	Horner syndrome	1	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0002277	Horner syndrome	1	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0002277	Horner syndrome	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0002277	Horner syndrome	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0002277	Horner syndrome	1	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0002277	Horner syndrome	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0001488	Bilateral ptosis	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0007970	Congenital ptosis	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0007838	Progressive ptosis	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0007687	Unilateral ptosis	1	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0002277	Horner syndrome	1	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0001488	Bilateral ptosis	1	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0007970	Congenital ptosis	1	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0007838	Progressive ptosis	1	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0007687	Unilateral ptosis	1	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0002277	Horner syndrome	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0001488	Bilateral ptosis	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0007970	Congenital ptosis	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0007838	Progressive ptosis	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0007687	Unilateral ptosis	1	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0002277	Horner syndrome	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0001488	Bilateral ptosis	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0007970	Congenital ptosis	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0007838	Progressive ptosis	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0007687	Unilateral ptosis	1	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0002277	Horner syndrome	1	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0001488	Bilateral ptosis	1	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0007970	Congenital ptosis	1	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0007838	Progressive ptosis	1	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0007687	Unilateral ptosis	1	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0002277	Horner syndrome	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0001488	Bilateral ptosis	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0007970	Congenital ptosis	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0007838	Progressive ptosis	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0007687	Unilateral ptosis	1	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0002277	Horner syndrome	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0001488	Bilateral ptosis	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0007970	Congenital ptosis	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0007838	Progressive ptosis	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0007687	Unilateral ptosis	1	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0002277	Horner syndrome	1	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0001488	Bilateral ptosis	1	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0007970	Congenital ptosis	1	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0007838	Progressive ptosis	1	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0007687	Unilateral ptosis	1	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0002277	Horner syndrome	1	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0001488	Bilateral ptosis	1	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0007970	Congenital ptosis	1	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0007838	Progressive ptosis	1	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0007687	Unilateral ptosis	1	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0002277	Horner syndrome	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0001488	Bilateral ptosis	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0007970	Congenital ptosis	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0007838	Progressive ptosis	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0007687	Unilateral ptosis	1	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0002277	Horner syndrome	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0001488	Bilateral ptosis	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0007970	Congenital ptosis	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0007838	Progressive ptosis	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0007687	Unilateral ptosis	1	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0002277	Horner syndrome	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:0000508	HP:0001488	Bilateral ptosis	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:0000508	HP:0007970	Congenital ptosis	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:0000508	HP:0007838	Progressive ptosis	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:0000508	HP:0007687	Unilateral ptosis	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:0000508	HP:0002277	Horner syndrome	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0001488	Bilateral ptosis	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0007970	Congenital ptosis	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0007838	Progressive ptosis	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0007687	Unilateral ptosis	1	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0002277	Horner syndrome	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0001488	Bilateral ptosis	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0007970	Congenital ptosis	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0007838	Progressive ptosis	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0007687	Unilateral ptosis	1	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0002277	Horner syndrome	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0001488	Bilateral ptosis	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0007970	Congenital ptosis	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0007838	Progressive ptosis	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0007687	Unilateral ptosis	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0002277	Horner syndrome	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0001488	Bilateral ptosis	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0007970	Congenital ptosis	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0007838	Progressive ptosis	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0007687	Unilateral ptosis	1	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0002277	Horner syndrome	1	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0001488	Bilateral ptosis	1	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0007970	Congenital ptosis	1	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0007838	Progressive ptosis	1	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0007687	Unilateral ptosis	1	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0002277	Horner syndrome	1	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0001488	Bilateral ptosis	1	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0007970	Congenital ptosis	1	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0007838	Progressive ptosis	1	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0007687	Unilateral ptosis	1	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0002277	Horner syndrome	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0001488	Bilateral ptosis	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0007970	Congenital ptosis	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0007838	Progressive ptosis	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0007687	Unilateral ptosis	1	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0002277	Horner syndrome	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0001488	Bilateral ptosis	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0007970	Congenital ptosis	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0007838	Progressive ptosis	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0007687	Unilateral ptosis	1	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0002277	Horner syndrome	1	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0001488	Bilateral ptosis	1	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0007970	Congenital ptosis	1	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0007838	Progressive ptosis	1	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0007687	Unilateral ptosis	1	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0002277	Horner syndrome	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0001488	Bilateral ptosis	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0007970	Congenital ptosis	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0007838	Progressive ptosis	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0007687	Unilateral ptosis	1	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0002277	Horner syndrome	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0001488	Bilateral ptosis	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0007970	Congenital ptosis	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0007838	Progressive ptosis	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0007687	Unilateral ptosis	1	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0002277	Horner syndrome	1	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0001488	Bilateral ptosis	1	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0007970	Congenital ptosis	1	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0007838	Progressive ptosis	1	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0007687	Unilateral ptosis	1	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0002277	Horner syndrome	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0001488	Bilateral ptosis	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0007970	Congenital ptosis	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0007838	Progressive ptosis	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0007687	Unilateral ptosis	1	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0002277	Horner syndrome	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0001488	Bilateral ptosis	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0007970	Congenital ptosis	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0007838	Progressive ptosis	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0007687	Unilateral ptosis	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0002277	Horner syndrome	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0001488	Bilateral ptosis	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0007970	Congenital ptosis	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0007838	Progressive ptosis	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0007687	Unilateral ptosis	1	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0002277	Horner syndrome	1	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0001488	Bilateral ptosis	1	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0007970	Congenital ptosis	1	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0007838	Progressive ptosis	1	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0007687	Unilateral ptosis	1	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0002277	Horner syndrome	1	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0001488	Bilateral ptosis	1	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0007970	Congenital ptosis	1	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0007838	Progressive ptosis	1	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0007687	Unilateral ptosis	1	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0002277	Horner syndrome	1	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HP:0000508	HP:0001488	Bilateral ptosis	1	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HP:0000508	HP:0007970	Congenital ptosis	1	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HP:0000508	HP:0007838	Progressive ptosis	1	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HP:0000508	HP:0007687	Unilateral ptosis	1	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HP:0000508	HP:0006837	Congenital Horner syndrome	2	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	A2ML1 CL E G H	144568	648				ORPHA	1	1403	23336	610627
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1892	59	600509
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	506	129	102610
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	512	132	102630
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	512	132	102630
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	499	144	102560
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	553	15766	611386
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1		21304	610624
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AFG3L2 CL E G H	10939	101109				ORPHA	1	480	315	604581
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AFG3L2 CL E G H	10939	313772				ORPHA	1	480	315	604581
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	480	315	604581
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	480	315	604581
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AGRN CL E G H	375790	98913				ORPHA	1	2176	329	103320
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AGRN CL E G H	375790	98914				ORPHA	1	2176	329	103320
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	2176	329	103320
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	1194	21575	608894
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AK9 CL E G H	221264	98913				ORPHA	1	114	33814	615358
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	758	391	164730
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	504	414	103850
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ALX1 CL E G H	8092	306542				ORPHA	1	51	1494	601527
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ALX3 CL E G H	257	391474				ORPHA	1	71	449	606014
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	71	449	606014
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	241	29101	616062
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ANO10 CL E G H	55129	284289				ORPHA	1	270	25519	613726
HP:0000508	HP:0006837	Congenital Horner syndrome	2	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	APOPT1 CL E G H	84334	436271				ORPHA	1	197	20492	616003
HP:0000508	HP:0006837	Congenital Horner syndrome	2	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	APOPT1 CL E G H	84334	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	197	20492	616003
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	78	682	607560
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	1759	18040	614556
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	137	694	604695
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	631	20730	617612
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARVCF CL E G H	421	567				ORPHA	1	620	728	602269
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	408	23805	612991
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	1925	886	300032
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	65	7106	607047
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	835	14262	607270
HP:0000508	HP:0006837	Congenital Horner syndrome	2	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	310	20207	610308
HP:0000508	HP:0006837	Congenital Horner syndrome	2	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	73	28636	611951
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	688	20893	300485
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	688	20893	300485
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	413	1020	603647
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BDNF CL E G H	627	893				ORPHA	1	83	1033	113505
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BIN1 CL E G H	274	169189				ORPHA	1	656	1052	601248
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	656	1052	601248
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BPTF CL E G H	2186	529962				ORPHA	1	573	3581	601819
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRAF CL E G H	673	500				ORPHA	1	1182	1097	164757
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRAF CL E G H	673	648				ORPHA	1	1182	1097	164757
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	1182	1097	164757
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	1182	1097	164757
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	1182	1097	164757
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	319	14255	602410
HP:0000508	HP:0006837	Congenital Horner syndrome	2	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1		26784	613541
HP:0000508	HP:0006837	Congenital Horner syndrome	2	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	137	1243	601269
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	1338	1541	165360
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CC2D2A CL E G H	57545	2318				ORPHA	1	1525	29253	612013
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	1525	29253	612013
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	45	24856	0
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	568	1733	603309
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CEP290 CL E G H	80184	2318				ORPHA	1	2944	29021	610142
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHAT CL E G H	1103	98914				ORPHA	1	984	1912	118490
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	984	1912	118490
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	437	1919	603277
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHD7 CL E G H	55636	138				ORPHA	1	2930	20626	608892
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	2930	20626	608892
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNA1 CL E G H	1134	98913				ORPHA	1	468	1955	100690
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	468	1955	100690
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	468	1955	100690
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNB1 CL E G H	1140	98913				ORPHA	1	454	1961	100710
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	454	1961	100710
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRND CL E G H	1144	98913				ORPHA	1	505	1965	100720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	505	1965	100720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	505	1965	100720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	505	1965	100720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNE CL E G H	1145	98913				ORPHA	1	1011	1966	100725
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	1011	1966	100725
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	1011	1966	100725
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	1011	1966	100725
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNG CL E G H	1146	2990				ORPHA	1	257	1967	100730
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	257	1967	100730
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	425	8011	602346
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COA7 CL E G H	65260	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	58	25716	615623
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL13A1 CL E G H	1305	98913				ORPHA	1	559	2190	120350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL13A1 CL E G H	1305	98914				ORPHA	1	559	2190	120350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	559	2190	120350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	78	18603	610004
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COLEC10 CL E G H	10584	293843				ORPHA	1	76	2220	607620
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	76	2220	607620
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COLEC11 CL E G H	78989	293843				ORPHA	1	105	17213	612502
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	105	17213	612502
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	542	2226	603033
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COMT CL E G H	1312	567				ORPHA	1	610	2228	116790
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX10 CL E G H	1352	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	356	2260	602125
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	356	2260	602125
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX14 CL E G H	84987	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	38	28216	614478
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX15 CL E G H	1355	255241				ORPHA	1	357	2263	603646
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	357	2263	603646
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX20 CL E G H	116228	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	206	26970	614698
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX6B1 CL E G H	1340	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	68	2280	124089
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COX8A CL E G H	1351	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	32	2294	123870
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	206	2309	605032
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1866	2348	600140
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	235	2457	115440
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	1074	26193	611654
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	352	2494	602618
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	468	2689	609312
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	1205	13681	603057
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	503	2719	107930
HP:0000508	HP:0006837	Congenital Horner syndrome	2	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:0000508	HP:0007911	Congenital bilateral ptosis	2	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:0000508	HP:0006837	Congenital Horner syndrome	2	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DHCR7 CL E G H	1717	818				ORPHA	1	779	2860	602858
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	779	2860	602858
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	303	2896	608770
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	601	2939	601810
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DNM2 CL E G H	1785	169189				ORPHA	1	1088	2974	602378
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	1088	2974	602378
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DOK7 CL E G H	285489	98913				ORPHA	1	1000	26594	610285
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	1000	26594	610285
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	1000	26594	610285
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	312	2995	191350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	336	29419	612799
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EBP CL E G H	10682	35173				ORPHA	1	317	3133	300205
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	213	3147	605896
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ECHS1 CL E G H	1892	255241				ORPHA	1	431	3151	602292
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	129	3188	605984
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EFEMP2 CL E G H	30008	90349				ORPHA	1	428	3219	604633
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1266	3373	602700
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	178	3444	611888
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FASTKD2 CL E G H	22868	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	401	29160	612322
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	2194	23109	612411
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FBLN5 CL E G H	10516	90349				ORPHA	1	454	3602	604580
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FBN1 CL E G H	2200	2462				ORPHA	1	6619	3603	134797
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGD1 CL E G H	2245	915				ORPHA	1	447	3663	300546
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	447	3663	300546
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	936	3688	136350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR2 CL E G H	2263	794				ORPHA	1	685	3689	176943
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR2 CL E G H	2263	1555				ORPHA	1	685	3689	176943
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	685	3689	176943
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	685	3689	176943
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	685	3689	176943
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR3 CL E G H	2261	794				ORPHA	1	916	3690	134934
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR3 CL E G H	2261	53271				ORPHA	1	916	3690	134934
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR3 CL E G H	2261	93262				ORPHA	1	916	3690	134934
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	916	3690	134934
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	396	3693	605830
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	223	3749	193067
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	3033	3754	300017
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FOXC2 CL E G H	2303	33001				ORPHA	1	203	3801	602402
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	203	3801	602402
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FOXE3 CL E G H	2301	88632				ORPHA	1	344	3808	601094
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	232	1092	605597
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FOXRED1 CL E G H	55572	255241				ORPHA	1	323	26927	613622
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	947	4195	138079
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GFER CL E G H	2671	330054				ORPHA	1	200	4236	600924
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	524	4241	138292
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	524	4241	138292
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	981	4319	165240
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GP1BB CL E G H	2812	567				ORPHA	1	479	4440	138720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	200	25169	300969
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	298	4593	604473
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	381	13315	300269
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HIRA CL E G H	7290	567				ORPHA	1	476	4916	600237
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	192	5004	300193
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	200	5044	600712
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	44	5111	142968
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	227	5154	601688
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	227	5154	601688
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	622	5173	190020
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HSPG2 CL E G H	3339	800				ORPHA	1	2497	5273	142461
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	2497	5273	142461
HP:0000508	HP:0006837	Congenital Horner syndrome	2	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	931	5389	300823
HP:0000508	HP:0006837	Congenital Horner syndrome	2	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	140	18550	609382
HP:0000508	HP:0006837	Congenital Horner syndrome	2	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	197	5464	147440
HP:0000508	HP:0006837	Congenital Horner syndrome	2	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	782	21474	613037
HP:0000508	HP:0006837	Congenital Horner syndrome	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	185	6081	176730
HP:0000508	HP:0006837	Congenital Horner syndrome	2	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	JMJD1C CL E G H	221037	567				ORPHA	1	1178	12313	604503
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	1370	24565	612452
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KAT6A CL E G H	7994	457193				ORPHA	1	1051	13013	601408
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	1051	13013	601408
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KAT6B CL E G H	23522	648				ORPHA	1	1003	17582	605880
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	435	6257	600937
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	254	18039	605393
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KDM6A CL E G H	7403	2322				ORPHA	1	916	12637	300128
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	916	12637	300128
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1		29068	616650
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KIF1BP CL E G H	26128	66629				ORPHA	1		23419	609367
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1		23419	609367
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	1014	6323	602821
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	2073	7132	159555
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KMT2D CL E G H	8085	2322				ORPHA	1	4323	7133	602113
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	4323	7133	602113
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KRAS CL E G H	3845	648				ORPHA	1	480	6407	190070
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	480	6407	190070
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	480	6407	190070
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KRT14 CL E G H	3861	79399				ORPHA	1	200	6416	148066
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KRT5 CL E G H	3852	79399				ORPHA	1	303	6442	148040
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	367	6556	604407
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	367	6556	604407
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	106	18712	608303
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LIG4 CL E G H	3981	235				ORPHA	1	626	6601	601837
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LIPT1 CL E G H	51601	255241				ORPHA	1	124	29569	610284
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LMNA CL E G H	4000	2229				ORPHA	1	1814	6636	150330
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	550	6654	602575
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LONP1 CL E G H	9361	1458				ORPHA	1	749	9479	605490
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LRP4 CL E G H	4038	98913				ORPHA	1	1051	6696	604270
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	1051	6696	604270
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	1051	6696	604270
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LZTR1 CL E G H	8216	648				ORPHA	1	2859	6742	600574
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	2859	6742	600574
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	378	6776	177075
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	493	6840	176872
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	493	6840	176872
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAP2K2 CL E G H	5605	638				ORPHA	1	720	6842	601263
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	720	6842	601263
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	81	6897	602678
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MASP1 CL E G H	5648	293843				ORPHA	1	288	6901	600521
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	288	6901	600521
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	268	6948	602696
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MECP2 CL E G H	4204	1762				ORPHA	1	1925	6990	300005
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	1573	11957	300188
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	666	28845	610197
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MGME1 CL E G H	92667	352447				ORPHA	1	157	16205	615076
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	157	16205	615076
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	138	16618	611994
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TL1 CL E G H	4567	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7490	590050
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TL2 CL E G H	4568	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7491	590055
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TN CL E G H	4570	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7493	590010
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TN CL E G H	4570	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7493	590010
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TS1 CL E G H	4574	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1		7497	590080
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TS1 CL E G H	4574	663	Maternally-inherited progressive external ophthalmoplegia		CN924917	ORPHA	1		7497	590080
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MTFMT CL E G H	123263	255241				ORPHA	1	243	29666	611766
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	807	7448	300415
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MTMR14 CL E G H	64419	169189				ORPHA	1	237	26190	611089
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MUSK CL E G H	4593	98913				ORPHA	1	620	7525	601296
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MUSK CL E G H	4593	616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	616325	C4225368	OMIM	1	620	7525	601296
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	620	7525	601296
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYF5 CL E G H	4617	618155	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES	618155		OMIM	1	36	7565	159990
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYF6 CL E G H	4618	169189				ORPHA	1	81	7566	159991
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	1136	7573	160720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	1136	7573	160720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	1136	7573	160720
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYH7 CL E G H	4625	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	4106	7577	160760
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	359	7578	160741
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYMK CL E G H	389827	1358				ORPHA	1	86	33778	615345
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYMK CL E G H	389827	254940	Congenital nonprogressive myopathy with Moebius and Robin sequences	254940	C1850746	OMIM	1	86	33778	615345
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYO18B CL E G H	84700	616549	Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism	616549	C4225285	OMIM	1	1810	18150	607295
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYO9A CL E G H	4649	98914				ORPHA	1	280	7608	604875
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	280	7608	604875
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	401	18704	300013
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	877	19082	611549
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	302	26274	612803
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFA10 CL E G H	4705	255241				ORPHA	1	421	7684	603835
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFA12 CL E G H	55967	255241				ORPHA	1	92	23987	614530
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFA13 CL E G H	51079	255241				ORPHA	1	65	17194	609435
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFA2 CL E G H	4695	255241				ORPHA	1	95	7685	602137
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFA4 CL E G H	4697	255241				ORPHA	1	96	7687	603833
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFA9 CL E G H	4704	255241				ORPHA	1	235	7693	603834
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFAF2 CL E G H	91942	255241				ORPHA	1	132	28086	609653
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFAF5 CL E G H	79133	255241				ORPHA	1	383	15899	612360
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFAF5 CL E G H	79133	618238	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16	618238		OMIM	1	383	15899	612360
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFAF6 CL E G H	137682	255241				ORPHA	1	281	28625	612392
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS1 CL E G H	4719	255241				ORPHA	1	424	7707	157655
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS1 CL E G H	4719	618226	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5	618226		OMIM	1	424	7707	157655
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS2 CL E G H	4720	255241				ORPHA	1	247	7708	602985
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS3 CL E G H	4722	255241				ORPHA	1	147	7710	603846
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS4 CL E G H	4724	255241				ORPHA	1	139	7711	602694
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	139	7711	602694
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS7 CL E G H	374291	255241				ORPHA	1	215	7714	601825
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFS8 CL E G H	4728	255241				ORPHA	1	129	7715	602141
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFV1 CL E G H	4723	255241				ORPHA	1	315	7716	161015
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFV1 CL E G H	4723	618225	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4	618225		OMIM	1	315	7716	161015
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NDUFV2 CL E G H	4729	255241				ORPHA	1	229	7717	600532
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	202	12768	606026
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NF1 CL E G H	4763	638				ORPHA	1	12392	7765	613113
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	1542	28862	608667
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	1542	28862	608667
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NOTCH3 CL E G H	4854	2789				ORPHA	1	1343	7883	600276
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	1343	7883	600276
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NRAS CL E G H	4893	648				ORPHA	1	281	7989	164790
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	538	12766	602952
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	538	12766	602952
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NSUN2 CL E G H	54888	235				ORPHA	1	566	25994	610916
HP:0000508	HP:0006837	Congenital Horner syndrome	2	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	OPA1 CL E G H	4976	125250	Autosomal dominant optic atrophy plus syndrome	125250	C1852267	OMIM	1	1224	8140	605290
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PABPN1 CL E G H	8106	270				ORPHA	1	85	8565	602279
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	588	30032	607492
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PAX6 CL E G H	5080	893				ORPHA	1	805	8620	607108
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	531	8804	173410
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PDHA1 CL E G H	5160	255241				ORPHA	1	679	8806	300502
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	679	8806	300502
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	170	6107	600733
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	496	8840	613230
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PET100 CL E G H	100131801	255241				ORPHA	1	76	40038	614770
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PET100 CL E G H	100131801	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	76	40038	614770
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	1537	8850	602136
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	803	8851	602859
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	415	8853	603867
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	459	8854	601758
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	497	8855	601789
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	474	8856	601791
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	470	8857	603360
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	379	9713	600279
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	463	9717	170993
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	522	22965	608666
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	358	8858	603164
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	858	9719	600414
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	1458	8859	601498
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX7 CL E G H	5191	773				ORPHA	1	550	8860	601757
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PHF6 CL E G H	84295	127				ORPHA	1	322	18145	300414
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	322	18145	300414
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PHYH CL E G H	5264	773				ORPHA	1	382	8940	602026
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIEZO2 CL E G H	63895	2461				ORPHA	1	978	26270	613629
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	978	26270	613629
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	978	26270	613629
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	978	26270	613629
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	978	26270	613629
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	156	8966	605947
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIK3R2 CL E G H	5296	603387	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	603387	C1863924	OMIM	1	355	8980	603157
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PITX3 CL E G H	5309	88632				ORPHA	1	54	9006	602669
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PLEC CL E G H	5339	257				ORPHA	1	5068	9069	601282
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PLXND1 CL E G H	23129	570				ORPHA	1	214	9107	604282
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	70595				ORPHA	1	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	254892				ORPHA	1	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	157640	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1	157640	C1834846	OMIM	1	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG2 CL E G H	11232	254892				ORPHA	1	357	9180	604983
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	357	9180	604983
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PREPL CL E G H	9581	163690				ORPHA	1	708	30228	609557
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	708	30228	609557
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PSMD12 CL E G H	5718	529962				ORPHA	1	84	9557	604450
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PTPN11 CL E G H	5781	500				ORPHA	1	854	9644	176876
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PTPN11 CL E G H	5781	648				ORPHA	1	854	9644	176876
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	854	9644	176876
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	854	9644	176876
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	175	14957	607204
HP:0000508	HP:0006837	Congenital Horner syndrome	2	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	126	24713	617387
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	459	17063	602536
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	352	9811	606462
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAF1 CL E G H	5894	500				ORPHA	1	990	9829	164760
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAF1 CL E G H	5894	648				ORPHA	1	990	9829	164760
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	990	9829	164760
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAP1A CL E G H	5906	2322				ORPHA	1	41	9855	179520
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAP1B CL E G H	5908	2322				ORPHA	1	35	9857	179530
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAPSN CL E G H	5913	98913				ORPHA	1	562	9863	601592
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAPSN CL E G H	5913	616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	616326	C4225367	OMIM	1	562	9863	601592
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	562	9863	601592
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RASA2 CL E G H	5922	648				ORPHA	1	533	9872	601589
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	2914	9884	614041
HP:0000508	HP:0006837	Congenital Horner syndrome	2	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	REV3L CL E G H	5980	570				ORPHA	1	212	9968	602776
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RIT1 CL E G H	6016	648				ORPHA	1	269	10023	609591
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	269	10023	609591
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RNASEH1 CL E G H	246243	616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	C4225312	OMIM	1	189	18466	604123
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	1494	29168	610937
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	1494	29168	610937
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RRAS CL E G H	6237	648				ORPHA	1	260	10447	165090
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RREB1 CL E G H	6239	567				ORPHA	1	297	10449	602209
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RRM2B CL E G H	50484	254892				ORPHA	1	354	17296	604712
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	139	29420	616585
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RYR1 CL E G H	6261	169189				ORPHA	1	6164	10483	180901
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RYR1 CL E G H	6261	424107				ORPHA	1	6164	10483	180901
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RYR1 CL E G H	6261	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	6164	10483	180901
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	6164	10483	180901
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SC5D CL E G H	6309	46059				ORPHA	1	242	10547	602286
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SCN4A CL E G H	6329	98913				ORPHA	1	1765	10591	603967
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	1765	10591	603967
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SCO1 CL E G H	6341	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	212	10603	603644
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SCO2 CL E G H	9997	521411				ORPHA	1	701	10604	604272
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SDHA CL E G H	6389	255241				ORPHA	1	2503	10680	600857
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	2503	10680	600857
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	2503	10680	600857
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	77	33867	612848
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	686	10683	602690
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SEC24C CL E G H	9632	567				ORPHA	1	58	10705	607185
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SELENON CL E G H	57190	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	651	15999	606210
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SEMA3E CL E G H	9723	138				ORPHA	1	594	10727	608166
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	594	10727	608166
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1	552	7323	604061
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	1190	15573	611060
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	909	25566	615743
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SF3B4 CL E G H	10262	245				ORPHA	1	105	10771	605593
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	218	10817	603729
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SHANK3 CL E G H	85358	48652				ORPHA	1	936	14294	606230
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	936	14294	606230
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SIX2 CL E G H	10736	488437				ORPHA	1	60	10888	604994
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SKI CL E G H	6497	2462				ORPHA	1	1062	10896	164780
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC17A5 CL E G H	26503	269920	Sialic acid storage disease, severe infantile type	269920	C1096902	OMIM	1	520	10933	604322
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC18A2 CL E G H	6571	352649				ORPHA	1	183	10935	193001
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	183	10935	193001
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC18A3 CL E G H	6572	98914				ORPHA	1	305	10936	600336
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	305	10936	600336
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC19A3 CL E G H	80704	255241				ORPHA	1	563	16266	606152
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	563	16266	606152
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC25A1 CL E G H	6576	98914				ORPHA	1	568	10979	190315
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC25A4 CL E G H	291	254892				ORPHA	1	333	10990	103220
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC25A4 CL E G H	291	609283	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	609283	C1836460	OMIM	1	333	10990	103220
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	45	1329	604604
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC3A1 CL E G H	6519	163690				ORPHA	1	429	11025	104614
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC52A2 CL E G H	79581	97229				ORPHA	1	520	30224	607882
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC52A3 CL E G H	113278	97229				ORPHA	1	464	16187	613350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC52A3 CL E G H	113278	211530	Brown-Vialetto-Van Laere syndrome 1	211530	CN029849	OMIM	1	464	16187	613350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	464	16187	613350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC5A7 CL E G H	60482	98914				ORPHA	1	455	14025	608761
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	455	14025	608761
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	1062	11055	300036
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC6A9 CL E G H	6536	617301	Glycine encephalopathy with normal serum glycine	617301	C4310943	OMIM	1	269	11056	601019
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	247	10955	601460
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMAD4 CL E G H	4089	2588				ORPHA	1	1898	6770	600993
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	780	11109	603111
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	939	11111	300040
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	939	11111	300040
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	472	2468	606062
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SNAP25 CL E G H	6616	98914				ORPHA	1	218	11132	600322
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	218	11132	600322
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOS1 CL E G H	6654	648				ORPHA	1	1503	11187	182530
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	1503	11187	182530
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOS2 CL E G H	6655	648				ORPHA	1	1250	11188	601247
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	1250	11188	601247
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	99	13771	605740
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SPECC1L CL E G H	23384	1519				ORPHA	1	309	29022	614140
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	309	29022	614140
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SPR CL E G H	6697	70594				ORPHA	1	198	11257	182125
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	727	20249	609291
HP:0000508	HP:0006837	Congenital Horner syndrome	2	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	236	28423	615521
HP:0000508	HP:0006837	Congenital Horner syndrome	2	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	186	16950	606247
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SUCLA2 CL E G H	8803	1933				ORPHA	1	413	11448	603921
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	413	11448	603921
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SURF1 CL E G H	6834	255241				ORPHA	1	532	11474	185620
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	532	11474	185620
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SYT2 CL E G H	127833	98914				ORPHA	1	232	11510	600104
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TAB2 CL E G H	23118	228410				ORPHA	1	261	17075	605101
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TACO1 CL E G H	51204	255241				ORPHA	1	117	24316	612958
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TACO1 CL E G H	51204	220110	Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency	220110	C0268237	OMIM	1	117	24316	612958
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	195	16133	611663
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TBX1 CL E G H	6899	567				ORPHA	1	1169	11592	602054
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	695	11654	606847
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	211	11742	107580
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TFAP2B CL E G H	7021	46627				ORPHA	1	129	11743	601601
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	129	11743	601601
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	261	11776	602630
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TH CL E G H	7054	101150				ORPHA	1	967	11782	191290
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	967	11782	191290
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	442	11831	188250
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	170	11842	608439
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	299	28128	616183
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM138 CL E G H	51524	2318				ORPHA	1	166	26944	614459
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM216 CL E G H	51259	2318				ORPHA	1	236	25018	613277
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM231 CL E G H	79583	2318				ORPHA	1	463	37234	614949
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM237 CL E G H	65062	2318				ORPHA	1	466	14432	614423
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	466	14432	614423
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	928	28396	609884
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	928	28396	609884
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TOP3A CL E G H	7156	618098	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5	618098	CN253818	OMIM	1	390	11992	601243
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	631	15979	603273
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TPM2 CL E G H	7169	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	341	12011	190990
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TPM3 CL E G H	7170	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	343	12012	191030
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TRAF7 CL E G H	84231	618164	CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY	618164		OMIM	1	155	20456	606692
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TTN CL E G H	7273	611705	Myopathy, early-onset, with fatal cardiomyopathy	611705	C2673677	OMIM	1	27503	12403	188840
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TUBB3 CL E G H	10381	600638	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	600638	C2748801	OMIM	1	320	20772	602661
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TWIST1 CL E G H	7291	794				ORPHA	1	214	12428	601622
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	214	12428	601622
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TWNK CL E G H	56652	70595				ORPHA	1	450	1160	606075
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TWNK CL E G H	56652	254892				ORPHA	1	450	1160	606075
HP:0000508	HP:0006837	Congenital Horner syndrome	2	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:0000508	HP:0007911	Congenital bilateral ptosis	2	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:0000508	HP:0006837	Congenital Horner syndrome	2	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	450	1160	606075
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TYMP CL E G H	1890	603041	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	603041	C0872218	OMIM	1	895	3148	131222
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HP:0000508	HP:0006837	Congenital Horner syndrome	2	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	UBA1 CL E G H	7317	301830	Spinal muscular atrophy, X-linked 2	301830	C1844934	OMIM	1	631	12469	314370
HP:0000508	HP:0006837	Congenital Horner syndrome	2	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	UFD1 CL E G H	7353	567				ORPHA	1	415	12520	601754
HP:0000508	HP:0006837	Congenital Horner syndrome	2	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	1	1816	26582	612636
HP:0000508	HP:0006837	Congenital Horner syndrome	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	VAMP1 CL E G H	6843	98914				ORPHA	1	141	12642	185880
HP:0000508	HP:0006837	Congenital Horner syndrome	2	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	141	12642	185880
HP:0000508	HP:0006837	Congenital Horner syndrome	2	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	220	25928	616144
HP:0000508	HP:0006837	Congenital Horner syndrome	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	WFS1 CL E G H	7466	222300	Diabetes mellitus AND insipidus with optic atrophy AND deafness	222300	C0043207	OMIM	1	1634	12762	606201
HP:0000508	HP:0006837	Congenital Horner syndrome	2	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	WHCR CL E G H	7467	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1		12764	0
HP:0000508	HP:0006837	Congenital Horner syndrome	2	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	WT1 CL E G H	7490	893				ORPHA	1	1371	12796	607102
HP:0000508	HP:0006837	Congenital Horner syndrome	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	YARS2 CL E G H	51067	613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	613561	C3150802	OMIM	1	274	24249	610957
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	252	13503	606025
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	279	24931	300897
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	1206	14881	605802
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	273	16966	608668
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZNF423 CL E G H	23090	2318				ORPHA	1	810	16762	604557
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000508	HP:0000508	Ptosis	0	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0000508	Ptosis	0	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0000508	Ptosis	0	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0000508	Ptosis	0	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0000508	Ptosis	0	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0000508	Ptosis	0	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0000508	Ptosis	0	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0000508	Ptosis	0	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0000508	Ptosis	0	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0000508	Ptosis	0	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0000508	Ptosis	0	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0000508	Ptosis	0	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0000508	Ptosis	0	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0000508	Ptosis	0	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0000508	Ptosis	0	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0000508	Ptosis	0	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0000508	Ptosis	0	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0000508	Ptosis	0	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0000508	Ptosis	0	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0000508	Ptosis	0	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0000508	Ptosis	0	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0000508	Ptosis	0	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0000508	Ptosis	0	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0000508	Ptosis	0	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0000508	Ptosis	0	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0000508	Ptosis	0	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0000508	Ptosis	0	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0000508	Ptosis	0	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0000508	Ptosis	0	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0000508	Ptosis	0	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0000508	Ptosis	0	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0000508	Ptosis	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0000508	Ptosis	0	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0000508	Ptosis	0	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0000508	Ptosis	0	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0000508	Ptosis	0	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0000508	Ptosis	0	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0000508	Ptosis	0	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0000508	Ptosis	0	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0000508	Ptosis	0	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0000508	Ptosis	0	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0000508	Ptosis	0	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0000508	Ptosis	0	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0000508	Ptosis	0	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0000508	Ptosis	0	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0000508	Ptosis	0	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0000508	Ptosis	0	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0000508	Ptosis	0	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0000508	Ptosis	0	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0000508	Ptosis	0	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0000508	Ptosis	0	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0000508	Ptosis	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0000508	Ptosis	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0000508	Ptosis	0	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0000508	Ptosis	0	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0000508	Ptosis	0	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0000508	Ptosis	0	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0000508	Ptosis	0	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0000508	Ptosis	0	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0000508	Ptosis	0	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0000508	Ptosis	0	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0000508	Ptosis	0	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0000508	Ptosis	0	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0000508	Ptosis	0	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0000508	Ptosis	0	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0000508	Ptosis	0	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0000508	Ptosis	0	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0000508	Ptosis	0	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0000508	Ptosis	0	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0000508	Ptosis	0	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0000508	Ptosis	0	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0000508	Ptosis	0	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0000508	Ptosis	0	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0000508	Ptosis	0	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0000508	Ptosis	0	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0000508	Ptosis	0	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0000508	Ptosis	0	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0000508	Ptosis	0	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0000508	Ptosis	0	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0000508	Ptosis	0	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0000508	Ptosis	0	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0000508	Ptosis	0	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0000508	Ptosis	0	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0000508	Ptosis	0	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0000508	Ptosis	0	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0000508	Ptosis	0	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0000508	Ptosis	0	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0000508	Ptosis	0	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0000508	Ptosis	0	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0000508	Ptosis	0	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0000508	Ptosis	0	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0000508	Ptosis	0	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0000508	Ptosis	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0000508	Ptosis	0	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0000508	Ptosis	0	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0000508	Ptosis	0	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0000508	Ptosis	0	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0000508	Ptosis	0	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0000508	Ptosis	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0000508	Ptosis	0	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0000508	Ptosis	0	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0000508	Ptosis	0	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0000508	Ptosis	0	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0000508	Ptosis	0	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0000508	Ptosis	0	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0000508	Ptosis	0	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0000508	Ptosis	0	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0000508	Ptosis	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0000508	Ptosis	0	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0000508	Ptosis	0	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0000508	Ptosis	0	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0000508	Ptosis	0	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0000508	Ptosis	0	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0000508	Ptosis	0	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0000508	Ptosis	0	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0000508	Ptosis	0	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0000508	Ptosis	0	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0000508	Ptosis	0	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0000508	Ptosis	0	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0000508	Ptosis	0	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0000508	Ptosis	0	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0000508	Ptosis	0	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0000508	Ptosis	0	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0000508	Ptosis	0	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0000508	Ptosis	0	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0000508	Ptosis	0	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0000508	Ptosis	0	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0000508	Ptosis	0	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0000508	Ptosis	0	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0000508	Ptosis	0	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0000508	Ptosis	0	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0000508	Ptosis	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0000508	Ptosis	0	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0000508	Ptosis	0	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0000508	Ptosis	0	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0000508	Ptosis	0	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0000508	Ptosis	0	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0000508	Ptosis	0	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0000508	Ptosis	0	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0000508	Ptosis	0	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0000508	Ptosis	0	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0000508	Ptosis	0	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0000508	Ptosis	0	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0000508	Ptosis	0	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0000508	Ptosis	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0000508	Ptosis	0	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0000508	Ptosis	0	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0000508	Ptosis	0	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0000508	Ptosis	0	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0000508	Ptosis	0	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0000508	Ptosis	0	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0000508	Ptosis	0	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0000508	Ptosis	0	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0000508	Ptosis	0	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0000508	Ptosis	0	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0000508	Ptosis	0	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0000508	Ptosis	0	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0000508	Ptosis	0	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0000508	Ptosis	0	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0000508	Ptosis	0	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0000508	Ptosis	0	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0000508	Ptosis	0	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0000508	Ptosis	0	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0000508	Ptosis	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0000508	Ptosis	0	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0000508	Ptosis	0	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0000508	Ptosis	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0000508	Ptosis	0	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0000508	Ptosis	0	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0000508	Ptosis	0	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0000508	Ptosis	0	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0000508	Ptosis	0	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0000508	Ptosis	0	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0000508	Ptosis	0	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0000508	Ptosis	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0000508	Ptosis	0	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0000508	Ptosis	0	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0000508	Ptosis	0	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0000508	Ptosis	0	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0000508	Ptosis	0	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0000508	Ptosis	0	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0000508	Ptosis	0	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0000508	Ptosis	0	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0000508	Ptosis	0	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0000508	Ptosis	0	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0000508	Ptosis	0	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0000508	Ptosis	0	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0000508	Ptosis	0	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0000508	Ptosis	0	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0000508	Ptosis	0	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0000508	Ptosis	0	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0000508	Ptosis	0	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0000508	Ptosis	0	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0000508	Ptosis	0	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0000508	Ptosis	0	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0000508	Ptosis	0	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0000508	Ptosis	0	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0000508	Ptosis	0	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0000508	Ptosis	0	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0000508	Ptosis	0	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0000508	Ptosis	0	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0000508	Ptosis	0	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0000508	Ptosis	0	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0000508	Ptosis	0	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0000508	Ptosis	0	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0000508	Ptosis	0	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0000508	Ptosis	0	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0000508	Ptosis	0	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0000508	Ptosis	0	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0000508	Ptosis	0	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0000508	Ptosis	0	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0000508	Ptosis	0	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0000508	Ptosis	0	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0000508	Ptosis	0	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0000508	Ptosis	0	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0000508	Ptosis	0	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0000508	Ptosis	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0000508	Ptosis	0	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0000508	Ptosis	0	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0000508	Ptosis	0	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0000508	Ptosis	0	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0000508	Ptosis	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0000508	Ptosis	0	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0000508	Ptosis	0	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0000508	Ptosis	0	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0000508	Ptosis	0	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0000508	Ptosis	0	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0000508	Ptosis	0	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0000508	Ptosis	0	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0000508	Ptosis	0	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0000508	Ptosis	0	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0000508	Ptosis	0	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0000508	Ptosis	0	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0000508	Ptosis	0	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0000508	Ptosis	0	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0000508	Ptosis	0	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0000508	Ptosis	0	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0000508	Ptosis	0	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0000508	Ptosis	0	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0000508	Ptosis	0	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0000508	Ptosis	0	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0000508	Ptosis	0	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0000508	Ptosis	0	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0000508	Ptosis	0	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0000508	Ptosis	0	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0000508	Ptosis	0	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0000508	Ptosis	0	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0000508	Ptosis	0	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951
HP:0000508	HP:0002277	Horner syndrome	1	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0001488	Bilateral ptosis	1	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0007970	Congenital ptosis	1	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0007838	Progressive ptosis	1	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0007687	Unilateral ptosis	1	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0002277	Horner syndrome	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0007970	Congenital ptosis	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0007838	Progressive ptosis	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0002277	Horner syndrome	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0007970	Congenital ptosis	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0007838	Progressive ptosis	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0002277	Horner syndrome	1	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0007970	Congenital ptosis	1	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0007838	Progressive ptosis	1	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0002277	Horner syndrome	1	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0001488	Bilateral ptosis	1	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0007970	Congenital ptosis	1	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0007838	Progressive ptosis	1	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0007687	Unilateral ptosis	1	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0002277	Horner syndrome	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0001488	Bilateral ptosis	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0007970	Congenital ptosis	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0007838	Progressive ptosis	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0007687	Unilateral ptosis	1	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0002277	Horner syndrome	1	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0001488	Bilateral ptosis	1	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0007970	Congenital ptosis	1	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0007838	Progressive ptosis	1	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0007687	Unilateral ptosis	1	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0002277	Horner syndrome	1	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0001488	Bilateral ptosis	1	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0007970	Congenital ptosis	1	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0007838	Progressive ptosis	1	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0007687	Unilateral ptosis	1	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0002277	Horner syndrome	1	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0001488	Bilateral ptosis	1	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0007970	Congenital ptosis	1	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0007838	Progressive ptosis	1	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0007687	Unilateral ptosis	1	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0002277	Horner syndrome	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0001488	Bilateral ptosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0007970	Congenital ptosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0007838	Progressive ptosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0007687	Unilateral ptosis	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0002277	Horner syndrome	1	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0001488	Bilateral ptosis	1	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0007970	Congenital ptosis	1	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0007838	Progressive ptosis	1	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0007687	Unilateral ptosis	1	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0002277	Horner syndrome	1	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0001488	Bilateral ptosis	1	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0007970	Congenital ptosis	1	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0007838	Progressive ptosis	1	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0007687	Unilateral ptosis	1	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0002277	Horner syndrome	1	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0001488	Bilateral ptosis	1	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0007970	Congenital ptosis	1	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0007838	Progressive ptosis	1	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0007687	Unilateral ptosis	1	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0002277	Horner syndrome	1	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0001488	Bilateral ptosis	1	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0007970	Congenital ptosis	1	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0007838	Progressive ptosis	1	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0007687	Unilateral ptosis	1	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0002277	Horner syndrome	1	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0001488	Bilateral ptosis	1	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0007970	Congenital ptosis	1	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0007838	Progressive ptosis	1	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0007687	Unilateral ptosis	1	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0002277	Horner syndrome	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0001488	Bilateral ptosis	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0007970	Congenital ptosis	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0007838	Progressive ptosis	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0007687	Unilateral ptosis	1	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0002277	Horner syndrome	1	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0001488	Bilateral ptosis	1	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0007970	Congenital ptosis	1	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0007838	Progressive ptosis	1	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0007687	Unilateral ptosis	1	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0002277	Horner syndrome	1	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0001488	Bilateral ptosis	1	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0007970	Congenital ptosis	1	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0007838	Progressive ptosis	1	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0007687	Unilateral ptosis	1	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0002277	Horner syndrome	1	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0001488	Bilateral ptosis	1	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0007970	Congenital ptosis	1	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0007838	Progressive ptosis	1	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0007687	Unilateral ptosis	1	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0002277	Horner syndrome	1	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0001488	Bilateral ptosis	1	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0007970	Congenital ptosis	1	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0007838	Progressive ptosis	1	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0007687	Unilateral ptosis	1	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0002277	Horner syndrome	1	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0001488	Bilateral ptosis	1	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0007970	Congenital ptosis	1	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0007838	Progressive ptosis	1	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0007687	Unilateral ptosis	1	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0002277	Horner syndrome	1	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0001488	Bilateral ptosis	1	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0007970	Congenital ptosis	1	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0007838	Progressive ptosis	1	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0007687	Unilateral ptosis	1	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0002277	Horner syndrome	1	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0001488	Bilateral ptosis	1	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0007970	Congenital ptosis	1	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0007838	Progressive ptosis	1	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0007687	Unilateral ptosis	1	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0002277	Horner syndrome	1	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0001488	Bilateral ptosis	1	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0007970	Congenital ptosis	1	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0007838	Progressive ptosis	1	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0007687	Unilateral ptosis	1	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0002277	Horner syndrome	1	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0001488	Bilateral ptosis	1	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0007970	Congenital ptosis	1	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0007838	Progressive ptosis	1	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0007687	Unilateral ptosis	1	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0002277	Horner syndrome	1	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0001488	Bilateral ptosis	1	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0007970	Congenital ptosis	1	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0007838	Progressive ptosis	1	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0007687	Unilateral ptosis	1	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0002277	Horner syndrome	1	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0001488	Bilateral ptosis	1	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0007970	Congenital ptosis	1	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0007838	Progressive ptosis	1	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0007687	Unilateral ptosis	1	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0002277	Horner syndrome	1	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0001488	Bilateral ptosis	1	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0007970	Congenital ptosis	1	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0007838	Progressive ptosis	1	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0007687	Unilateral ptosis	1	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0002277	Horner syndrome	1	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0001488	Bilateral ptosis	1	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0007970	Congenital ptosis	1	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0007838	Progressive ptosis	1	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0007687	Unilateral ptosis	1	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0002277	Horner syndrome	1	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0001488	Bilateral ptosis	1	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0007970	Congenital ptosis	1	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0007838	Progressive ptosis	1	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0007687	Unilateral ptosis	1	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0002277	Horner syndrome	1	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0001488	Bilateral ptosis	1	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0007970	Congenital ptosis	1	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0007838	Progressive ptosis	1	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0007687	Unilateral ptosis	1	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0002277	Horner syndrome	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0001488	Bilateral ptosis	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0007970	Congenital ptosis	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0007838	Progressive ptosis	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0007687	Unilateral ptosis	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0002277	Horner syndrome	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0001488	Bilateral ptosis	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0007970	Congenital ptosis	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0007838	Progressive ptosis	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0007687	Unilateral ptosis	1	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0002277	Horner syndrome	1	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0001488	Bilateral ptosis	1	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0007970	Congenital ptosis	1	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0007838	Progressive ptosis	1	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0007687	Unilateral ptosis	1	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0002277	Horner syndrome	1	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0001488	Bilateral ptosis	1	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0007970	Congenital ptosis	1	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0007838	Progressive ptosis	1	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0007687	Unilateral ptosis	1	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0002277	Horner syndrome	1	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0001488	Bilateral ptosis	1	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007970	Congenital ptosis	1	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007838	Progressive ptosis	1	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007687	Unilateral ptosis	1	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0002277	Horner syndrome	1	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0001488	Bilateral ptosis	1	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007970	Congenital ptosis	1	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007838	Progressive ptosis	1	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007687	Unilateral ptosis	1	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0002277	Horner syndrome	1	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0001488	Bilateral ptosis	1	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0007970	Congenital ptosis	1	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0007838	Progressive ptosis	1	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0007687	Unilateral ptosis	1	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0002277	Horner syndrome	1	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0001488	Bilateral ptosis	1	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0007970	Congenital ptosis	1	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0007838	Progressive ptosis	1	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0007687	Unilateral ptosis	1	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0002277	Horner syndrome	1	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0001488	Bilateral ptosis	1	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0007970	Congenital ptosis	1	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0007838	Progressive ptosis	1	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0007687	Unilateral ptosis	1	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0002277	Horner syndrome	1	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0001488	Bilateral ptosis	1	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0007970	Congenital ptosis	1	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0007838	Progressive ptosis	1	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0007687	Unilateral ptosis	1	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0002277	Horner syndrome	1	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0001488	Bilateral ptosis	1	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0007970	Congenital ptosis	1	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0007838	Progressive ptosis	1	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0007687	Unilateral ptosis	1	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0002277	Horner syndrome	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0001488	Bilateral ptosis	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0007970	Congenital ptosis	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0007838	Progressive ptosis	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0007687	Unilateral ptosis	1	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0002277	Horner syndrome	1	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0001488	Bilateral ptosis	1	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0007970	Congenital ptosis	1	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0007838	Progressive ptosis	1	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0007687	Unilateral ptosis	1	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0002277	Horner syndrome	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0001488	Bilateral ptosis	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0007970	Congenital ptosis	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0007838	Progressive ptosis	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0007687	Unilateral ptosis	1	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0002277	Horner syndrome	1	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0001488	Bilateral ptosis	1	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0007970	Congenital ptosis	1	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0007838	Progressive ptosis	1	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0007687	Unilateral ptosis	1	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0002277	Horner syndrome	1	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0001488	Bilateral ptosis	1	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0007970	Congenital ptosis	1	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0007838	Progressive ptosis	1	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0007687	Unilateral ptosis	1	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0002277	Horner syndrome	1	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0001488	Bilateral ptosis	1	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0007970	Congenital ptosis	1	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0007838	Progressive ptosis	1	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0007687	Unilateral ptosis	1	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0002277	Horner syndrome	1	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0001488	Bilateral ptosis	1	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0007970	Congenital ptosis	1	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0007838	Progressive ptosis	1	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0007687	Unilateral ptosis	1	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0002277	Horner syndrome	1	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0001488	Bilateral ptosis	1	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0007970	Congenital ptosis	1	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0007838	Progressive ptosis	1	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0007687	Unilateral ptosis	1	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0002277	Horner syndrome	1	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0001488	Bilateral ptosis	1	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0007970	Congenital ptosis	1	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0007838	Progressive ptosis	1	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0007687	Unilateral ptosis	1	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0002277	Horner syndrome	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0001488	Bilateral ptosis	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0007970	Congenital ptosis	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0007838	Progressive ptosis	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0007687	Unilateral ptosis	1	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0002277	Horner syndrome	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0001488	Bilateral ptosis	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0007970	Congenital ptosis	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0007838	Progressive ptosis	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0007687	Unilateral ptosis	1	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0002277	Horner syndrome	1	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0001488	Bilateral ptosis	1	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0007970	Congenital ptosis	1	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0007838	Progressive ptosis	1	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0007687	Unilateral ptosis	1	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0002277	Horner syndrome	1	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0001488	Bilateral ptosis	1	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0007970	Congenital ptosis	1	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0007838	Progressive ptosis	1	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0007687	Unilateral ptosis	1	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0002277	Horner syndrome	1	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0001488	Bilateral ptosis	1	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0007970	Congenital ptosis	1	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0007838	Progressive ptosis	1	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0007687	Unilateral ptosis	1	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0002277	Horner syndrome	1	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0001488	Bilateral ptosis	1	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0007970	Congenital ptosis	1	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0007838	Progressive ptosis	1	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0007687	Unilateral ptosis	1	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0002277	Horner syndrome	1	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0001488	Bilateral ptosis	1	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0007970	Congenital ptosis	1	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0007838	Progressive ptosis	1	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0007687	Unilateral ptosis	1	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0002277	Horner syndrome	1	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0001488	Bilateral ptosis	1	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0007970	Congenital ptosis	1	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0007838	Progressive ptosis	1	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0007687	Unilateral ptosis	1	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0002277	Horner syndrome	1	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0001488	Bilateral ptosis	1	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0007970	Congenital ptosis	1	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0007838	Progressive ptosis	1	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0007687	Unilateral ptosis	1	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0002277	Horner syndrome	1	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0001488	Bilateral ptosis	1	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0007970	Congenital ptosis	1	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0007838	Progressive ptosis	1	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0007687	Unilateral ptosis	1	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0002277	Horner syndrome	1	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0001488	Bilateral ptosis	1	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0007970	Congenital ptosis	1	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0007838	Progressive ptosis	1	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0007687	Unilateral ptosis	1	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0002277	Horner syndrome	1	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0001488	Bilateral ptosis	1	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0007970	Congenital ptosis	1	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0007838	Progressive ptosis	1	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0007687	Unilateral ptosis	1	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0002277	Horner syndrome	1	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0001488	Bilateral ptosis	1	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0007970	Congenital ptosis	1	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0007838	Progressive ptosis	1	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0007687	Unilateral ptosis	1	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0002277	Horner syndrome	1	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0001488	Bilateral ptosis	1	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0007970	Congenital ptosis	1	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0007838	Progressive ptosis	1	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0007687	Unilateral ptosis	1	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0002277	Horner syndrome	1	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0001488	Bilateral ptosis	1	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0007970	Congenital ptosis	1	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0007838	Progressive ptosis	1	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0007687	Unilateral ptosis	1	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0002277	Horner syndrome	1	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0001488	Bilateral ptosis	1	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0007970	Congenital ptosis	1	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0007838	Progressive ptosis	1	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0007687	Unilateral ptosis	1	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0002277	Horner syndrome	1	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0001488	Bilateral ptosis	1	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0007970	Congenital ptosis	1	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0007838	Progressive ptosis	1	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0007687	Unilateral ptosis	1	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0002277	Horner syndrome	1	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0001488	Bilateral ptosis	1	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0007970	Congenital ptosis	1	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0007838	Progressive ptosis	1	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0007687	Unilateral ptosis	1	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0002277	Horner syndrome	1	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0001488	Bilateral ptosis	1	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0007970	Congenital ptosis	1	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0007838	Progressive ptosis	1	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0007687	Unilateral ptosis	1	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0002277	Horner syndrome	1	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0007970	Congenital ptosis	1	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0007838	Progressive ptosis	1	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0002277	Horner syndrome	1	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0007970	Congenital ptosis	1	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0007838	Progressive ptosis	1	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0002277	Horner syndrome	1	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0007970	Congenital ptosis	1	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0007838	Progressive ptosis	1	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0002277	Horner syndrome	1	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0007970	Congenital ptosis	1	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0007838	Progressive ptosis	1	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0002277	Horner syndrome	1	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0007970	Congenital ptosis	1	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0007838	Progressive ptosis	1	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0002277	Horner syndrome	1	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0007970	Congenital ptosis	1	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0007838	Progressive ptosis	1	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0002277	Horner syndrome	1	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0007970	Congenital ptosis	1	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0007838	Progressive ptosis	1	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0002277	Horner syndrome	1	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0007970	Congenital ptosis	1	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0007838	Progressive ptosis	1	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0002277	Horner syndrome	1	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0007970	Congenital ptosis	1	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0007838	Progressive ptosis	1	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0002277	Horner syndrome	1	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0001488	Bilateral ptosis	1	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0007970	Congenital ptosis	1	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0007838	Progressive ptosis	1	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0007687	Unilateral ptosis	1	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0002277	Horner syndrome	1	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0001488	Bilateral ptosis	1	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0007970	Congenital ptosis	1	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0007838	Progressive ptosis	1	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0007687	Unilateral ptosis	1	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0002277	Horner syndrome	1	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0001488	Bilateral ptosis	1	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0007970	Congenital ptosis	1	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0007838	Progressive ptosis	1	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0007687	Unilateral ptosis	1	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0002277	Horner syndrome	1	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0001488	Bilateral ptosis	1	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0007970	Congenital ptosis	1	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0007838	Progressive ptosis	1	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0007687	Unilateral ptosis	1	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0002277	Horner syndrome	1	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0001488	Bilateral ptosis	1	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0007970	Congenital ptosis	1	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0007838	Progressive ptosis	1	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0007687	Unilateral ptosis	1	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0002277	Horner syndrome	1	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0001488	Bilateral ptosis	1	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0007970	Congenital ptosis	1	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0007838	Progressive ptosis	1	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0007687	Unilateral ptosis	1	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0002277	Horner syndrome	1	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0001488	Bilateral ptosis	1	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0007970	Congenital ptosis	1	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0007838	Progressive ptosis	1	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0007687	Unilateral ptosis	1	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0002277	Horner syndrome	1	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0001488	Bilateral ptosis	1	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0007970	Congenital ptosis	1	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0007838	Progressive ptosis	1	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0007687	Unilateral ptosis	1	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0002277	Horner syndrome	1	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0001488	Bilateral ptosis	1	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0007970	Congenital ptosis	1	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0007838	Progressive ptosis	1	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0007687	Unilateral ptosis	1	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0002277	Horner syndrome	1	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0001488	Bilateral ptosis	1	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0007970	Congenital ptosis	1	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0007838	Progressive ptosis	1	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0007687	Unilateral ptosis	1	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0002277	Horner syndrome	1	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0001488	Bilateral ptosis	1	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0007970	Congenital ptosis	1	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0007838	Progressive ptosis	1	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0007687	Unilateral ptosis	1	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0002277	Horner syndrome	1	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0001488	Bilateral ptosis	1	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0007970	Congenital ptosis	1	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0007838	Progressive ptosis	1	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0007687	Unilateral ptosis	1	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0002277	Horner syndrome	1	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0001488	Bilateral ptosis	1	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0007970	Congenital ptosis	1	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0007838	Progressive ptosis	1	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0007687	Unilateral ptosis	1	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0002277	Horner syndrome	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0001488	Bilateral ptosis	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0007970	Congenital ptosis	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0007838	Progressive ptosis	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0007687	Unilateral ptosis	1	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0002277	Horner syndrome	1	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0001488	Bilateral ptosis	1	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0007970	Congenital ptosis	1	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0007838	Progressive ptosis	1	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0007687	Unilateral ptosis	1	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0002277	Horner syndrome	1	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0001488	Bilateral ptosis	1	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0007970	Congenital ptosis	1	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0007838	Progressive ptosis	1	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0007687	Unilateral ptosis	1	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0002277	Horner syndrome	1	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0001488	Bilateral ptosis	1	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0007970	Congenital ptosis	1	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0007838	Progressive ptosis	1	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0007687	Unilateral ptosis	1	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0002277	Horner syndrome	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0001488	Bilateral ptosis	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0007970	Congenital ptosis	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0007838	Progressive ptosis	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0007687	Unilateral ptosis	1	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0002277	Horner syndrome	1	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0001488	Bilateral ptosis	1	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0007970	Congenital ptosis	1	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0007838	Progressive ptosis	1	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0007687	Unilateral ptosis	1	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0002277	Horner syndrome	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0001488	Bilateral ptosis	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0007970	Congenital ptosis	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0007838	Progressive ptosis	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0007687	Unilateral ptosis	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0002277	Horner syndrome	1	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0001488	Bilateral ptosis	1	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0007970	Congenital ptosis	1	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0007838	Progressive ptosis	1	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0007687	Unilateral ptosis	1	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0002277	Horner syndrome	1	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0001488	Bilateral ptosis	1	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0007970	Congenital ptosis	1	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0007838	Progressive ptosis	1	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0007687	Unilateral ptosis	1	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0002277	Horner syndrome	1	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0001488	Bilateral ptosis	1	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0007970	Congenital ptosis	1	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0007838	Progressive ptosis	1	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0007687	Unilateral ptosis	1	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0002277	Horner syndrome	1	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0001488	Bilateral ptosis	1	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0007970	Congenital ptosis	1	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0007838	Progressive ptosis	1	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0007687	Unilateral ptosis	1	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0002277	Horner syndrome	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0001488	Bilateral ptosis	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0007970	Congenital ptosis	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0007838	Progressive ptosis	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0007687	Unilateral ptosis	1	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0002277	Horner syndrome	1	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0001488	Bilateral ptosis	1	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0007970	Congenital ptosis	1	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0007838	Progressive ptosis	1	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0007687	Unilateral ptosis	1	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0002277	Horner syndrome	1	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0001488	Bilateral ptosis	1	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0007970	Congenital ptosis	1	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0007838	Progressive ptosis	1	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0007687	Unilateral ptosis	1	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0002277	Horner syndrome	1	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0001488	Bilateral ptosis	1	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0007970	Congenital ptosis	1	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0007838	Progressive ptosis	1	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0007687	Unilateral ptosis	1	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0002277	Horner syndrome	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0001488	Bilateral ptosis	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0007970	Congenital ptosis	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0007838	Progressive ptosis	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0007687	Unilateral ptosis	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0002277	Horner syndrome	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0001488	Bilateral ptosis	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0007970	Congenital ptosis	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0007838	Progressive ptosis	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0007687	Unilateral ptosis	1	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0002277	Horner syndrome	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0001488	Bilateral ptosis	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0007970	Congenital ptosis	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0007838	Progressive ptosis	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0007687	Unilateral ptosis	1	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0002277	Horner syndrome	1	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0001488	Bilateral ptosis	1	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0007970	Congenital ptosis	1	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0007838	Progressive ptosis	1	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0007687	Unilateral ptosis	1	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0002277	Horner syndrome	1	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0001488	Bilateral ptosis	1	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0007970	Congenital ptosis	1	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0007838	Progressive ptosis	1	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0007687	Unilateral ptosis	1	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0002277	Horner syndrome	1	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0001488	Bilateral ptosis	1	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0007970	Congenital ptosis	1	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0007838	Progressive ptosis	1	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0007687	Unilateral ptosis	1	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0002277	Horner syndrome	1	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0001488	Bilateral ptosis	1	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0007970	Congenital ptosis	1	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0007838	Progressive ptosis	1	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0007687	Unilateral ptosis	1	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0002277	Horner syndrome	1	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0001488	Bilateral ptosis	1	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0007970	Congenital ptosis	1	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0007838	Progressive ptosis	1	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0007687	Unilateral ptosis	1	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0002277	Horner syndrome	1	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0001488	Bilateral ptosis	1	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0007970	Congenital ptosis	1	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0007838	Progressive ptosis	1	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0007687	Unilateral ptosis	1	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0002277	Horner syndrome	1	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0001488	Bilateral ptosis	1	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0007970	Congenital ptosis	1	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0007838	Progressive ptosis	1	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0007687	Unilateral ptosis	1	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0002277	Horner syndrome	1	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0001488	Bilateral ptosis	1	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0007970	Congenital ptosis	1	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0007838	Progressive ptosis	1	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0007687	Unilateral ptosis	1	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0002277	Horner syndrome	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0001488	Bilateral ptosis	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0007970	Congenital ptosis	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0007838	Progressive ptosis	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0007687	Unilateral ptosis	1	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0002277	Horner syndrome	1	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0001488	Bilateral ptosis	1	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0007970	Congenital ptosis	1	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0007838	Progressive ptosis	1	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0007687	Unilateral ptosis	1	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0002277	Horner syndrome	1	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0001488	Bilateral ptosis	1	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0007970	Congenital ptosis	1	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0007838	Progressive ptosis	1	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0007687	Unilateral ptosis	1	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0002277	Horner syndrome	1	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0001488	Bilateral ptosis	1	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0007970	Congenital ptosis	1	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0007838	Progressive ptosis	1	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0007687	Unilateral ptosis	1	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0002277	Horner syndrome	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0001488	Bilateral ptosis	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0007970	Congenital ptosis	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0007838	Progressive ptosis	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0007687	Unilateral ptosis	1	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0002277	Horner syndrome	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0001488	Bilateral ptosis	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0007970	Congenital ptosis	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0007838	Progressive ptosis	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0007687	Unilateral ptosis	1	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0002277	Horner syndrome	1	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0001488	Bilateral ptosis	1	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0007970	Congenital ptosis	1	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0007838	Progressive ptosis	1	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0007687	Unilateral ptosis	1	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0002277	Horner syndrome	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0001488	Bilateral ptosis	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0007970	Congenital ptosis	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0007838	Progressive ptosis	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0007687	Unilateral ptosis	1	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0002277	Horner syndrome	1	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0001488	Bilateral ptosis	1	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0007970	Congenital ptosis	1	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0007838	Progressive ptosis	1	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0007687	Unilateral ptosis	1	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0002277	Horner syndrome	1	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0001488	Bilateral ptosis	1	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0007970	Congenital ptosis	1	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0007838	Progressive ptosis	1	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0007687	Unilateral ptosis	1	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0002277	Horner syndrome	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0001488	Bilateral ptosis	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0007970	Congenital ptosis	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0007838	Progressive ptosis	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0007687	Unilateral ptosis	1	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0002277	Horner syndrome	1	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0001488	Bilateral ptosis	1	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0007970	Congenital ptosis	1	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0007838	Progressive ptosis	1	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0007687	Unilateral ptosis	1	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0002277	Horner syndrome	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0001488	Bilateral ptosis	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0007970	Congenital ptosis	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0007838	Progressive ptosis	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0007687	Unilateral ptosis	1	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0002277	Horner syndrome	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0001488	Bilateral ptosis	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0007970	Congenital ptosis	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0007838	Progressive ptosis	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0007687	Unilateral ptosis	1	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0002277	Horner syndrome	1	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0001488	Bilateral ptosis	1	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0007970	Congenital ptosis	1	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0007838	Progressive ptosis	1	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0007687	Unilateral ptosis	1	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0002277	Horner syndrome	1	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0001488	Bilateral ptosis	1	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0007970	Congenital ptosis	1	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0007838	Progressive ptosis	1	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0007687	Unilateral ptosis	1	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0002277	Horner syndrome	1	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0001488	Bilateral ptosis	1	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0007970	Congenital ptosis	1	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0007838	Progressive ptosis	1	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0007687	Unilateral ptosis	1	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0002277	Horner syndrome	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0001488	Bilateral ptosis	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0007970	Congenital ptosis	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0007838	Progressive ptosis	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0007687	Unilateral ptosis	1	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0002277	Horner syndrome	1	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0001488	Bilateral ptosis	1	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0007970	Congenital ptosis	1	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0007838	Progressive ptosis	1	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0007687	Unilateral ptosis	1	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0002277	Horner syndrome	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0001488	Bilateral ptosis	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0007970	Congenital ptosis	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0007838	Progressive ptosis	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0007687	Unilateral ptosis	1	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0002277	Horner syndrome	1	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0001488	Bilateral ptosis	1	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0007970	Congenital ptosis	1	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0007838	Progressive ptosis	1	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0007687	Unilateral ptosis	1	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0002277	Horner syndrome	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0001488	Bilateral ptosis	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007970	Congenital ptosis	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007838	Progressive ptosis	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007687	Unilateral ptosis	1	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0002277	Horner syndrome	1	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0001488	Bilateral ptosis	1	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007970	Congenital ptosis	1	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007838	Progressive ptosis	1	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007687	Unilateral ptosis	1	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0002277	Horner syndrome	1	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0001488	Bilateral ptosis	1	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0007970	Congenital ptosis	1	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0007838	Progressive ptosis	1	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0007687	Unilateral ptosis	1	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0002277	Horner syndrome	1	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0001488	Bilateral ptosis	1	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0007970	Congenital ptosis	1	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0007838	Progressive ptosis	1	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0007687	Unilateral ptosis	1	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0002277	Horner syndrome	1	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0001488	Bilateral ptosis	1	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0007970	Congenital ptosis	1	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0007838	Progressive ptosis	1	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0007687	Unilateral ptosis	1	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0002277	Horner syndrome	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0001488	Bilateral ptosis	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0007970	Congenital ptosis	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0007838	Progressive ptosis	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0007687	Unilateral ptosis	1	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0002277	Horner syndrome	1	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0001488	Bilateral ptosis	1	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0007970	Congenital ptosis	1	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0007838	Progressive ptosis	1	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0007687	Unilateral ptosis	1	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0002277	Horner syndrome	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0001488	Bilateral ptosis	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0007970	Congenital ptosis	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0007838	Progressive ptosis	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0007687	Unilateral ptosis	1	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0002277	Horner syndrome	1	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0001488	Bilateral ptosis	1	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0007970	Congenital ptosis	1	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0007838	Progressive ptosis	1	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0007687	Unilateral ptosis	1	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0002277	Horner syndrome	1	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0001488	Bilateral ptosis	1	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0007970	Congenital ptosis	1	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0007838	Progressive ptosis	1	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0007687	Unilateral ptosis	1	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0002277	Horner syndrome	1	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0001488	Bilateral ptosis	1	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0007970	Congenital ptosis	1	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0007838	Progressive ptosis	1	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0007687	Unilateral ptosis	1	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0002277	Horner syndrome	1	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0001488	Bilateral ptosis	1	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0007970	Congenital ptosis	1	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0007838	Progressive ptosis	1	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0007687	Unilateral ptosis	1	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0002277	Horner syndrome	1	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0001488	Bilateral ptosis	1	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0007970	Congenital ptosis	1	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0007838	Progressive ptosis	1	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0007687	Unilateral ptosis	1	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0002277	Horner syndrome	1	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0001488	Bilateral ptosis	1	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0007970	Congenital ptosis	1	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0007838	Progressive ptosis	1	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0007687	Unilateral ptosis	1	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0002277	Horner syndrome	1	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0001488	Bilateral ptosis	1	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0007970	Congenital ptosis	1	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0007838	Progressive ptosis	1	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0007687	Unilateral ptosis	1	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0002277	Horner syndrome	1	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0001488	Bilateral ptosis	1	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0007970	Congenital ptosis	1	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0007838	Progressive ptosis	1	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0007687	Unilateral ptosis	1	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0002277	Horner syndrome	1	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0001488	Bilateral ptosis	1	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0007970	Congenital ptosis	1	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0007838	Progressive ptosis	1	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0007687	Unilateral ptosis	1	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0002277	Horner syndrome	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0001488	Bilateral ptosis	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0007970	Congenital ptosis	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0007838	Progressive ptosis	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0007687	Unilateral ptosis	1	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0002277	Horner syndrome	1	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0001488	Bilateral ptosis	1	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0007970	Congenital ptosis	1	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0007838	Progressive ptosis	1	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0007687	Unilateral ptosis	1	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0002277	Horner syndrome	1	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0001488	Bilateral ptosis	1	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0007970	Congenital ptosis	1	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0007838	Progressive ptosis	1	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0007687	Unilateral ptosis	1	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0002277	Horner syndrome	1	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0001488	Bilateral ptosis	1	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0007970	Congenital ptosis	1	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0007838	Progressive ptosis	1	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0007687	Unilateral ptosis	1	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0002277	Horner syndrome	1	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0001488	Bilateral ptosis	1	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0007970	Congenital ptosis	1	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0007838	Progressive ptosis	1	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0007687	Unilateral ptosis	1	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0002277	Horner syndrome	1	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0001488	Bilateral ptosis	1	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0007970	Congenital ptosis	1	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0007838	Progressive ptosis	1	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0007687	Unilateral ptosis	1	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0002277	Horner syndrome	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0001488	Bilateral ptosis	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0007970	Congenital ptosis	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0007838	Progressive ptosis	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0007687	Unilateral ptosis	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0002277	Horner syndrome	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0001488	Bilateral ptosis	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0007970	Congenital ptosis	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0007838	Progressive ptosis	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0007687	Unilateral ptosis	1	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0002277	Horner syndrome	1	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0001488	Bilateral ptosis	1	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0007970	Congenital ptosis	1	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0007838	Progressive ptosis	1	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0007687	Unilateral ptosis	1	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0002277	Horner syndrome	1	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0001488	Bilateral ptosis	1	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0007970	Congenital ptosis	1	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0007838	Progressive ptosis	1	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0007687	Unilateral ptosis	1	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0002277	Horner syndrome	1	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0001488	Bilateral ptosis	1	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0007970	Congenital ptosis	1	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0007838	Progressive ptosis	1	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0007687	Unilateral ptosis	1	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0002277	Horner syndrome	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0001488	Bilateral ptosis	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0007970	Congenital ptosis	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0007838	Progressive ptosis	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0007687	Unilateral ptosis	1	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0002277	Horner syndrome	1	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0001488	Bilateral ptosis	1	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0007970	Congenital ptosis	1	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0007838	Progressive ptosis	1	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0007687	Unilateral ptosis	1	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0002277	Horner syndrome	1	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0001488	Bilateral ptosis	1	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0007970	Congenital ptosis	1	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0007838	Progressive ptosis	1	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0007687	Unilateral ptosis	1	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0002277	Horner syndrome	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0001488	Bilateral ptosis	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0007970	Congenital ptosis	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0007838	Progressive ptosis	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0007687	Unilateral ptosis	1	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0002277	Horner syndrome	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0001488	Bilateral ptosis	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0007970	Congenital ptosis	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0007838	Progressive ptosis	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0007687	Unilateral ptosis	1	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0002277	Horner syndrome	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0001488	Bilateral ptosis	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0007970	Congenital ptosis	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0007838	Progressive ptosis	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0007687	Unilateral ptosis	1	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0002277	Horner syndrome	1	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0001488	Bilateral ptosis	1	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0007970	Congenital ptosis	1	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0007838	Progressive ptosis	1	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0007687	Unilateral ptosis	1	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0002277	Horner syndrome	1	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0001488	Bilateral ptosis	1	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0007970	Congenital ptosis	1	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0007838	Progressive ptosis	1	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0007687	Unilateral ptosis	1	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0002277	Horner syndrome	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0001488	Bilateral ptosis	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0007970	Congenital ptosis	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0007838	Progressive ptosis	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0007687	Unilateral ptosis	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0002277	Horner syndrome	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0001488	Bilateral ptosis	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0007970	Congenital ptosis	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0007838	Progressive ptosis	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0007687	Unilateral ptosis	1	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0002277	Horner syndrome	1	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0001488	Bilateral ptosis	1	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0007970	Congenital ptosis	1	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0007838	Progressive ptosis	1	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0007687	Unilateral ptosis	1	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0002277	Horner syndrome	1	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0001488	Bilateral ptosis	1	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0007970	Congenital ptosis	1	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0007838	Progressive ptosis	1	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0007687	Unilateral ptosis	1	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0002277	Horner syndrome	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0001488	Bilateral ptosis	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0007970	Congenital ptosis	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0007838	Progressive ptosis	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0007687	Unilateral ptosis	1	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0002277	Horner syndrome	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0001488	Bilateral ptosis	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0007970	Congenital ptosis	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0007838	Progressive ptosis	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0007687	Unilateral ptosis	1	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0002277	Horner syndrome	1	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0001488	Bilateral ptosis	1	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0007970	Congenital ptosis	1	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0007838	Progressive ptosis	1	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0007687	Unilateral ptosis	1	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0002277	Horner syndrome	1	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0001488	Bilateral ptosis	1	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0007970	Congenital ptosis	1	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0007838	Progressive ptosis	1	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0007687	Unilateral ptosis	1	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0002277	Horner syndrome	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0001488	Bilateral ptosis	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0007970	Congenital ptosis	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0007838	Progressive ptosis	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0007687	Unilateral ptosis	1	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0002277	Horner syndrome	1	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0001488	Bilateral ptosis	1	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0007970	Congenital ptosis	1	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0007838	Progressive ptosis	1	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0007687	Unilateral ptosis	1	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0002277	Horner syndrome	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0001488	Bilateral ptosis	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0007970	Congenital ptosis	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0007838	Progressive ptosis	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0007687	Unilateral ptosis	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0002277	Horner syndrome	1	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0007970	Congenital ptosis	1	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0007838	Progressive ptosis	1	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0002277	Horner syndrome	1	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0007970	Congenital ptosis	1	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0007838	Progressive ptosis	1	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0002277	Horner syndrome	1	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0007970	Congenital ptosis	1	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0007838	Progressive ptosis	1	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0002277	Horner syndrome	1	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0001488	Bilateral ptosis	1	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0007970	Congenital ptosis	1	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0007838	Progressive ptosis	1	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0007687	Unilateral ptosis	1	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0002277	Horner syndrome	1	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0001488	Bilateral ptosis	1	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0007970	Congenital ptosis	1	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0007838	Progressive ptosis	1	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0007687	Unilateral ptosis	1	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0002277	Horner syndrome	1	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0001488	Bilateral ptosis	1	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0007970	Congenital ptosis	1	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0007838	Progressive ptosis	1	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0007687	Unilateral ptosis	1	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0002277	Horner syndrome	1	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0001488	Bilateral ptosis	1	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0007970	Congenital ptosis	1	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0007838	Progressive ptosis	1	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0007687	Unilateral ptosis	1	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0002277	Horner syndrome	1	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0001488	Bilateral ptosis	1	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0007970	Congenital ptosis	1	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0007838	Progressive ptosis	1	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0007687	Unilateral ptosis	1	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0002277	Horner syndrome	1	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0001488	Bilateral ptosis	1	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0007970	Congenital ptosis	1	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0007838	Progressive ptosis	1	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0007687	Unilateral ptosis	1	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0002277	Horner syndrome	1	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0001488	Bilateral ptosis	1	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0007970	Congenital ptosis	1	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0007838	Progressive ptosis	1	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0007687	Unilateral ptosis	1	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0002277	Horner syndrome	1	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0001488	Bilateral ptosis	1	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0007970	Congenital ptosis	1	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0007838	Progressive ptosis	1	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0007687	Unilateral ptosis	1	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0002277	Horner syndrome	1	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0001488	Bilateral ptosis	1	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0007970	Congenital ptosis	1	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0007838	Progressive ptosis	1	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0007687	Unilateral ptosis	1	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0002277	Horner syndrome	1	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0001488	Bilateral ptosis	1	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0007970	Congenital ptosis	1	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0007838	Progressive ptosis	1	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0007687	Unilateral ptosis	1	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0002277	Horner syndrome	1	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0001488	Bilateral ptosis	1	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0007970	Congenital ptosis	1	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0007838	Progressive ptosis	1	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0007687	Unilateral ptosis	1	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0002277	Horner syndrome	1	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0001488	Bilateral ptosis	1	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0007970	Congenital ptosis	1	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0007838	Progressive ptosis	1	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0007687	Unilateral ptosis	1	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0002277	Horner syndrome	1	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0001488	Bilateral ptosis	1	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0007970	Congenital ptosis	1	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0007838	Progressive ptosis	1	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0007687	Unilateral ptosis	1	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0002277	Horner syndrome	1	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0001488	Bilateral ptosis	1	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0007970	Congenital ptosis	1	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0007838	Progressive ptosis	1	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0007687	Unilateral ptosis	1	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0002277	Horner syndrome	1	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0001488	Bilateral ptosis	1	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0007970	Congenital ptosis	1	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0007838	Progressive ptosis	1	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0007687	Unilateral ptosis	1	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0002277	Horner syndrome	1	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0001488	Bilateral ptosis	1	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0007970	Congenital ptosis	1	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0007838	Progressive ptosis	1	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0007687	Unilateral ptosis	1	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0002277	Horner syndrome	1	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0001488	Bilateral ptosis	1	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0007970	Congenital ptosis	1	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0007838	Progressive ptosis	1	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0007687	Unilateral ptosis	1	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0002277	Horner syndrome	1	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0001488	Bilateral ptosis	1	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0007970	Congenital ptosis	1	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0007838	Progressive ptosis	1	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0007687	Unilateral ptosis	1	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0002277	Horner syndrome	1	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0001488	Bilateral ptosis	1	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0007970	Congenital ptosis	1	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0007838	Progressive ptosis	1	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0007687	Unilateral ptosis	1	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0002277	Horner syndrome	1	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0001488	Bilateral ptosis	1	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0007970	Congenital ptosis	1	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0007838	Progressive ptosis	1	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0007687	Unilateral ptosis	1	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0002277	Horner syndrome	1	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0001488	Bilateral ptosis	1	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0007970	Congenital ptosis	1	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0007838	Progressive ptosis	1	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0007687	Unilateral ptosis	1	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0002277	Horner syndrome	1	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0001488	Bilateral ptosis	1	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0007970	Congenital ptosis	1	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0007838	Progressive ptosis	1	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0007687	Unilateral ptosis	1	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0002277	Horner syndrome	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0001488	Bilateral ptosis	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0007970	Congenital ptosis	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0007838	Progressive ptosis	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0007687	Unilateral ptosis	1	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0002277	Horner syndrome	1	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0001488	Bilateral ptosis	1	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0007970	Congenital ptosis	1	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0007838	Progressive ptosis	1	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0007687	Unilateral ptosis	1	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0002277	Horner syndrome	1	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0001488	Bilateral ptosis	1	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0007970	Congenital ptosis	1	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0007838	Progressive ptosis	1	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0007687	Unilateral ptosis	1	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0002277	Horner syndrome	1	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0001488	Bilateral ptosis	1	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0007970	Congenital ptosis	1	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0007838	Progressive ptosis	1	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0007687	Unilateral ptosis	1	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0002277	Horner syndrome	1	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0001488	Bilateral ptosis	1	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0007970	Congenital ptosis	1	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0007838	Progressive ptosis	1	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0007687	Unilateral ptosis	1	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0002277	Horner syndrome	1	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0001488	Bilateral ptosis	1	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0007970	Congenital ptosis	1	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0007838	Progressive ptosis	1	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0007687	Unilateral ptosis	1	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0002277	Horner syndrome	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0001488	Bilateral ptosis	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0007970	Congenital ptosis	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0007838	Progressive ptosis	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0007687	Unilateral ptosis	1	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0002277	Horner syndrome	1	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0001488	Bilateral ptosis	1	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0007970	Congenital ptosis	1	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0007838	Progressive ptosis	1	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0007687	Unilateral ptosis	1	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0002277	Horner syndrome	1	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0002277	Horner syndrome	1	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0002277	Horner syndrome	1	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0002277	Horner syndrome	1	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0002277	Horner syndrome	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0001488	Bilateral ptosis	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0007970	Congenital ptosis	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0007838	Progressive ptosis	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0007687	Unilateral ptosis	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0002277	Horner syndrome	1	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0001488	Bilateral ptosis	1	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0007970	Congenital ptosis	1	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0007838	Progressive ptosis	1	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0007687	Unilateral ptosis	1	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0002277	Horner syndrome	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0001488	Bilateral ptosis	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0007970	Congenital ptosis	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0007838	Progressive ptosis	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0007687	Unilateral ptosis	1	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0002277	Horner syndrome	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0001488	Bilateral ptosis	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0007970	Congenital ptosis	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0007838	Progressive ptosis	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0007687	Unilateral ptosis	1	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0002277	Horner syndrome	1	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0001488	Bilateral ptosis	1	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0007970	Congenital ptosis	1	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0007838	Progressive ptosis	1	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0007687	Unilateral ptosis	1	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0002277	Horner syndrome	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0001488	Bilateral ptosis	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0007970	Congenital ptosis	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0007838	Progressive ptosis	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0007687	Unilateral ptosis	1	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0002277	Horner syndrome	1	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0001488	Bilateral ptosis	1	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0007970	Congenital ptosis	1	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0007838	Progressive ptosis	1	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0007687	Unilateral ptosis	1	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0002277	Horner syndrome	1	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0001488	Bilateral ptosis	1	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0007970	Congenital ptosis	1	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0007838	Progressive ptosis	1	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0007687	Unilateral ptosis	1	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0002277	Horner syndrome	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0001488	Bilateral ptosis	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0007970	Congenital ptosis	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0007838	Progressive ptosis	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0007687	Unilateral ptosis	1	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0002277	Horner syndrome	1	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0001488	Bilateral ptosis	1	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0007970	Congenital ptosis	1	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0007838	Progressive ptosis	1	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0007687	Unilateral ptosis	1	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0002277	Horner syndrome	1	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0001488	Bilateral ptosis	1	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0007970	Congenital ptosis	1	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0007838	Progressive ptosis	1	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0007687	Unilateral ptosis	1	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0002277	Horner syndrome	1	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0001488	Bilateral ptosis	1	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0007970	Congenital ptosis	1	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0007838	Progressive ptosis	1	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0007687	Unilateral ptosis	1	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0002277	Horner syndrome	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0001488	Bilateral ptosis	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0007970	Congenital ptosis	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0007838	Progressive ptosis	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0007687	Unilateral ptosis	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0002277	Horner syndrome	1	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0001488	Bilateral ptosis	1	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0007970	Congenital ptosis	1	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0007838	Progressive ptosis	1	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0007687	Unilateral ptosis	1	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0002277	Horner syndrome	1	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0001488	Bilateral ptosis	1	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0007970	Congenital ptosis	1	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0007838	Progressive ptosis	1	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0007687	Unilateral ptosis	1	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0002277	Horner syndrome	1	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0001488	Bilateral ptosis	1	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0007970	Congenital ptosis	1	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0007838	Progressive ptosis	1	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0007687	Unilateral ptosis	1	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0002277	Horner syndrome	1	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0001488	Bilateral ptosis	1	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0007970	Congenital ptosis	1	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0007838	Progressive ptosis	1	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0007687	Unilateral ptosis	1	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0002277	Horner syndrome	1	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0001488	Bilateral ptosis	1	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0007970	Congenital ptosis	1	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0007838	Progressive ptosis	1	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0007687	Unilateral ptosis	1	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0002277	Horner syndrome	1	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0001488	Bilateral ptosis	1	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0007970	Congenital ptosis	1	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0007838	Progressive ptosis	1	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0007687	Unilateral ptosis	1	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0002277	Horner syndrome	1	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0001488	Bilateral ptosis	1	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0007970	Congenital ptosis	1	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0007838	Progressive ptosis	1	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0007687	Unilateral ptosis	1	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0002277	Horner syndrome	1	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0001488	Bilateral ptosis	1	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0007970	Congenital ptosis	1	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0007838	Progressive ptosis	1	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0007687	Unilateral ptosis	1	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0002277	Horner syndrome	1	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0001488	Bilateral ptosis	1	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0007970	Congenital ptosis	1	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0007838	Progressive ptosis	1	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0007687	Unilateral ptosis	1	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0002277	Horner syndrome	1	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0001488	Bilateral ptosis	1	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0007970	Congenital ptosis	1	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0007838	Progressive ptosis	1	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0007687	Unilateral ptosis	1	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0002277	Horner syndrome	1	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0001488	Bilateral ptosis	1	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0007970	Congenital ptosis	1	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0007838	Progressive ptosis	1	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0007687	Unilateral ptosis	1	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0002277	Horner syndrome	1	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0001488	Bilateral ptosis	1	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0007970	Congenital ptosis	1	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0007838	Progressive ptosis	1	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0007687	Unilateral ptosis	1	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0002277	Horner syndrome	1	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0001488	Bilateral ptosis	1	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0007970	Congenital ptosis	1	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0007838	Progressive ptosis	1	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0007687	Unilateral ptosis	1	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0002277	Horner syndrome	1	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951
HP:0000508	HP:0001488	Bilateral ptosis	1	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951
HP:0000508	HP:0007970	Congenital ptosis	1	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951
HP:0000508	HP:0007838	Progressive ptosis	1	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951
HP:0000508	HP:0007687	Unilateral ptosis	1	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AARS CL E G H	16	442835				ORPHA	0		20	601065
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTA1 CL E G H	58	2020				ORPHA	0	506	129	102610
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTA1 CL E G H	58	171436				ORPHA	0	506	129	102610
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTA1 CL E G H	58	171439				ORPHA	0	506	129	102610
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ACTG1 CL E G H	71	614583	Baraitser-Winter Syndrome 2	614583	C3281235	OMIM	0	499	144	102560
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ADAR CL E G H	103	51				ORPHA	0	1122	225	146920
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AHI1 CL E G H	54806	220493				ORPHA	0	1194	21575	608894
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AHI1 CL E G H	54806	475	Acquired hypoprothrombinemia			ORPHA	0	1194	21575	608894
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AIP CL E G H	9049	2965				ORPHA	0	867	358	605555
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	758	391	164730
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ALG14 CL E G H	199857	353327				ORPHA	0	144	28287	612866
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ALG14 CL E G H	199857	616227	Myasthenic syndrome, congenital, 15	616227	C4015596	OMIM	0	144	28287	612866
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ALG2 CL E G H	85365	353327				ORPHA	0	335	23159	607905
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ANOS1 CL E G H	3730	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	470	6211	300836
HP:0000508	HP:0006837	Congenital Horner syndrome	2	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	AP3B2 CL E G H	8120	442835				ORPHA	0	690	567	602166
HP:0000508	HP:0006837	Congenital Horner syndrome	2	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	APC CL E G H	324	3258	Lindstrom syndrome			ORPHA	0	13157	583	611731
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARID1A CL E G H	8289	1465				ORPHA	0	930	11110	603024
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARID1B CL E G H	57492	1465				ORPHA	0	1759	18040	614556
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARID2 CL E G H	196528	1465				ORPHA	0	313	18037	609539
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARL13B CL E G H	200894	475	Acquired hypoprothrombinemia			ORPHA	0	340	25419	608922
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARL3 CL E G H	403	475	Acquired hypoprothrombinemia			ORPHA	0	137	694	604695
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARMC9 CL E G H	80210	475	Acquired hypoprothrombinemia			ORPHA	0	631	20730	617612
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ARV1 CL E G H	64801	442835				ORPHA	0	89	29561	611647
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ATP6V1A CL E G H	523	442835				ORPHA	0	229	851	607027
HP:0000508	HP:0006837	Congenital Horner syndrome	2	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	B9D1 CL E G H	27077	475	Acquired hypoprothrombinemia			ORPHA	0	310	24123	614144
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BCOR CL E G H	54880	2712	HMG CoA synthetase deficiency		CN072869	ORPHA	0	688	20893	300485
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRCA1 CL E G H	672	84				ORPHA	0	13955	1100	113705
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRCA2 CL E G H	675	84				ORPHA	0	17543	1101	600185
HP:0000508	HP:0006837	Congenital Horner syndrome	2	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	BRIP1 CL E G H	83990	84				ORPHA	0	5110	20473	605882
HP:0000508	HP:0006837	Congenital Horner syndrome	2	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	C9orf72 CL E G H	203228	275872				ORPHA	0	177	28337	614260
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CACNA1A CL E G H	773	442835				ORPHA	0	3248	1388	601011
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	0	1525	29253	612013
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CCDC115 CL E G H	84317	616828	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo	616828	C4225191	OMIM	0	87	28178	613734
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CCDC141 CL E G H	285025	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	281	26821	616031
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CDC42 CL E G H	998	616737	Takenouchi-Kosaki syndrome	616737	C4225222	OMIM	0	88	1736	116952
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CDH23 CL E G H	64072	2965				ORPHA	0	4522	13733	605516
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CDH23 CL E G H	64072	91347				ORPHA	0	4522	13733	605516
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CEP104 CL E G H	9731	475	Acquired hypoprothrombinemia			ORPHA	0	506	24866	616690
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CEP120 CL E G H	153241	220493				ORPHA	0	433	26690	613446
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CEP120 CL E G H	153241	475	Acquired hypoprothrombinemia			ORPHA	0	433	26690	613446
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CEP41 CL E G H	95681	220493				ORPHA	0	435	12370	610523
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CEP41 CL E G H	95681	475	Acquired hypoprothrombinemia			ORPHA	0	435	12370	610523
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CFL2 CL E G H	1073	171436				ORPHA	0	167	1875	601443
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHCHD10 CL E G H	400916	275872				ORPHA	0	297	15559	615903
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHCHD10 CL E G H	400916	615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	615911	C4014648	OMIM	0	297	15559	615903
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHD7 CL E G H	55636	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	2930	20626	608892
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CHN1 CL E G H	1123	233	D ercole syndrome			ORPHA	0	135	1943	118423
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CLTC CL E G H	1213	442835				ORPHA	0	645	2092	118955
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CNKSR2 CL E G H	22866	442835				ORPHA	0	306	19701	300724
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL25A1 CL E G H	84570	233	D ercole syndrome			ORPHA	0	78	18603	610004
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL2A1 CL E G H	1280	485				ORPHA	0	2380	2200	120140
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	0	2528	2201	120180
HP:0000508	HP:0006837	Congenital Horner syndrome	2	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	0	2909	2209	120215
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CPLANE1 CL E G H	65250	475	Acquired hypoprothrombinemia			ORPHA	0	1989	25801	614571
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CSPP1 CL E G H	79848	475	Acquired hypoprothrombinemia			ORPHA	0	1074	26193	611654
HP:0000508	HP:0006837	Congenital Horner syndrome	2	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	CYFIP2 CL E G H	26999	442835				ORPHA	0	668	13760	606323
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DCC CL E G H	1630	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	259	2701	120470
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DHDDS CL E G H	79947	442835				ORPHA	0	434	20603	608172
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DIS3L2 CL E G H	129563	2849				ORPHA	0	2008	28648	614184
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DNM1 CL E G H	1759	442835				ORPHA	0	765	2972	602377
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DPAGT1 CL E G H	1798	353327				ORPHA	0	312	2995	191350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DPF2 CL E G H	5977	1465				ORPHA	0	118	9964	601671
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DUSP6 CL E G H	1848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	66	3072	602748
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DVL1 CL E G H	1855	3107				ORPHA	0	666	3084	601365
HP:0000508	HP:0006837	Congenital Horner syndrome	2	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	DVL3 CL E G H	1857	3107				ORPHA	0	279	3087	601368
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EDN1 CL E G H	1906	137888				ORPHA	0	68	3176	131240
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EDNRB CL E G H	1910	895				ORPHA	0	316	3180	131244
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EEF1A2 CL E G H	1917	442835				ORPHA	0	575	3192	602959
HP:0000508	HP:0006837	Congenital Horner syndrome	2	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	EMD CL E G H	2010	98863				ORPHA	0	695	3331	300384
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ERCC4 CL E G H	2072	84				ORPHA	0	726	3436	133520
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCA CL E G H	2175	84				ORPHA	0	4396	3582	607139
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCB CL E G H	2187	84				ORPHA	0	633	3583	300515
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCC CL E G H	2176	84				ORPHA	0	1743	3584	613899
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCD2 CL E G H	2177	84				ORPHA	0	1262	3585	613984
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCE CL E G H	2178	84				ORPHA	0	527	3586	613976
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCF CL E G H	2188	84				ORPHA	0	434	3587	613897
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCG CL E G H	2189	84				ORPHA	0	790	3588	602956
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCI CL E G H	55215	84				ORPHA	0	1506	25568	611360
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCL CL E G H	55120	84				ORPHA	0	542	20748	608111
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FANCM CL E G H	57697	84				ORPHA	0	2045	23168	609644
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FEZF1 CL E G H	389549	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	109	22788	613301
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGF12 CL E G H	2257	442835				ORPHA	0	259	3668	601513
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGF17 CL E G H	8822	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	119	3673	603725
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGF8 CL E G H	2253	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	98	3686	600483
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FGFR1 CL E G H	2260	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	936	3688	136350
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FHL1 CL E G H	2273	98863				ORPHA	0	586	3702	300163
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FLRT3 CL E G H	23767	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	77	3762	604808
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FUS CL E G H	2521	275872				ORPHA	0	474	4010	137070
HP:0000508	HP:0006837	Congenital Horner syndrome	2	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	FZD2 CL E G H	2535	3107				ORPHA	0	135	4040	600667
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GABRB2 CL E G H	2561	442835				ORPHA	0	494	4082	600232
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GFPT1 CL E G H	2673	353327				ORPHA	0	524	4241	138292
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GMPPB CL E G H	29925	353327				ORPHA	0	364	22932	615320
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	0	364	22932	615320
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GNAI3 CL E G H	2773	137888				ORPHA	0	56	4387	139370
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GRIN2D CL E G H	2906	442835				ORPHA	0	823	4588	602717
HP:0000508	HP:0006837	Congenital Horner syndrome	2	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	GRM1 CL E G H	2911	324262				ORPHA	0	298	4593	604473
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HACD1 CL E G H	9200	2020				ORPHA	0	159	9639	610467
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HCN1 CL E G H	348980	442835				ORPHA	0	796	4845	602780
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	0	381	13315	300269
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HECW2 CL E G H	57520	617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	617268	C4310643	OMIM	0	352	29853	617245
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HESX1 CL E G H	8820	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	4877	601802
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HS6ST1 CL E G H	9394	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	112	5201	604846
HP:0000508	HP:0006837	Congenital Horner syndrome	2	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	HYLS1 CL E G H	219844	475	Acquired hypoprothrombinemia			ORPHA	0	314	26558	610693
HP:0000508	HP:0006837	Congenital Horner syndrome	2	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	IFIH1 CL E G H	64135	51				ORPHA	0	1170	18873	606951
HP:0000508	HP:0006837	Congenital Horner syndrome	2	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	IL17RD CL E G H	54756	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	163	17616	606807
HP:0000508	HP:0006837	Congenital Horner syndrome	2	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	INPP5E CL E G H	56623	220493				ORPHA	0	782	21474	613037
HP:0000508	HP:0006837	Congenital Horner syndrome	2	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	INPP5E CL E G H	56623	475	Acquired hypoprothrombinemia			ORPHA	0	782	21474	613037
HP:0000508	HP:0006837	Congenital Horner syndrome	2	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	0	782	21474	613037
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ITGA7 CL E G H	3679	2020				ORPHA	0	898	6143	600536
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KBTBD13 CL E G H	390594	171439				ORPHA	0	530	37227	613727
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KCNA2 CL E G H	3737	442835				ORPHA	0	401	6220	176262
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KCNB1 CL E G H	3745	442835				ORPHA	0	635	6231	600397
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KDM1A CL E G H	23028	616728	Cleft palate, psychomotor retardation, and distinctive facial features	616728	C4225229	OMIM	0	230	29079	609132
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KIAA0556 CL E G H	23247	475	Acquired hypoprothrombinemia			ORPHA	0		29068	616650
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KIAA0586 CL E G H	9786	475	Acquired hypoprothrombinemia			ORPHA	0	1253	19960	610178
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KIF11 CL E G H	3832	2526				ORPHA	0	769	6388	148760
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KISS1R CL E G H	84634	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	154	4510	604161
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KITLG CL E G H	4254	895				ORPHA	0	100	6343	184745
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KLHL41 CL E G H	10324	171436				ORPHA	0	294	16905	607701
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KLHL41 CL E G H	10324	171439				ORPHA	0	294	16905	607701
HP:0000508	HP:0006837	Congenital Horner syndrome	2	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	KMT2A CL E G H	4297	319182				ORPHA	0	2073	7132	159555
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LMNA CL E G H	4000	98853				ORPHA	0	1814	6636	150330
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LMNA CL E G H	4000	212112	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	212112	C0796031	OMIM	0	1814	6636	150330
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LMOD3 CL E G H	56203	171436				ORPHA	0	392	6649	616112
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	0	749	9479	605490
HP:0000508	HP:0006837	Congenital Horner syndrome	2	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	LRP4 CL E G H	4038	3258	Lindstrom syndrome			ORPHA	0	1051	6696	604270
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAD2L2 CL E G H	10459	84				ORPHA	0	121	6764	604094
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAFB CL E G H	9935	233	D ercole syndrome			ORPHA	0	153	6408	608968
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MAP3K20 CL E G H	51776	2020				ORPHA	0	368	17797	609479
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MEN1 CL E G H	4221	2965				ORPHA	0	2173	7010	613733
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MICU1 CL E G H	10367	401768				ORPHA	0	265	1530	605084
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	0	265	1530	605084
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MITF CL E G H	4286	895				ORPHA	0	539	7105	156845
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MKS1 CL E G H	54903	220493				ORPHA	0	839	7121	609883
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MKS1 CL E G H	54903	475	Acquired hypoprothrombinemia			ORPHA	0	839	7121	609883
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYH2 CL E G H	4620	605637	Inclusion body myopathy 3	605637	C1854106	OMIM	0	1161	7572	160740
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	0	359	7578	160741
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYL2 CL E G H	4633	2020				ORPHA	0	496	7583	160781
HP:0000508	HP:0006837	Congenital Horner syndrome	2	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	MYPN CL E G H	84665	171439				ORPHA	0	1485	23246	608517
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NEB CL E G H	4703	171436				ORPHA	0	8530	7720	161650
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NEB CL E G H	4703	171439				ORPHA	0	8530	7720	161650
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NECAP1 CL E G H	25977	442835				ORPHA	0	221	24539	611623
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NEFL CL E G H	4747	607684	Charcot-Marie-Tooth disease type 2E	607684	C1843225	OMIM	0	614	7739	162280
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NF1 CL E G H	4763	601321	Neurofibromatosis-Noonan syndrome	601321	C2931482	OMIM	0	12392	7765	613113
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NOP56 CL E G H	10528	276198				ORPHA	0	67	15911	614154
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NOP56 CL E G H	10528	614153	Spinocerebellar ataxia 36	614153	C3472711	OMIM	0	67	15911	614154
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NPHP1 CL E G H	4867	220497				ORPHA	0	815	7905	607100
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NSMF CL E G H	26012	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	197	29843	608137
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NTRK2 CL E G H	4915	442835				ORPHA	0	509	8032	600456
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NUS1 CL E G H	116150	442835				ORPHA	0	326	21042	610463
HP:0000508	HP:0006837	Congenital Horner syndrome	2	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	NXN CL E G H	64359	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	297	18008	612895
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PALB2 CL E G H	79728	84				ORPHA	0	5225	26144	610355
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PAX3 CL E G H	5077	894				ORPHA	0	338	8617	606597
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PIBF1 CL E G H	10464	475	Acquired hypoprothrombinemia			ORPHA	0	180	23352	607532
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PLCB4 CL E G H	5332	137888				ORPHA	0	269	9059	600810
HP:0000508	HP:0006837	Congenital Horner syndrome	2	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	POLG CL E G H	5428	254886				ORPHA	0	2324	9179	174763
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PPP1CB CL E G H	5500	617506	Noonan syndrome-like disorder with loose anagen hair 2	617506	C4479577	OMIM	0	215	9282	600590
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PPP3CA CL E G H	5530	442835				ORPHA	0	351	9314	114105
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PROK2 CL E G H	60675	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	65	18455	607002
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PROKR2 CL E G H	128674	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	160	15836	607123
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	3012	9588	601728
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	63	9652	600716
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PTS CL E G H	5805	13	Brain malformation		C0266449	ORPHA	0	263	9689	612719
HP:0000508	HP:0006837	Congenital Horner syndrome	2	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	0	582	26162	617220
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAD51 CL E G H	5888	84				ORPHA	0	358	9817	179617
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RAD51C CL E G H	5889	84				ORPHA	0	1827	9820	602774
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	0	482	15864	610924
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RBM8A CL E G H	9939	274000	Radial aplasia-thrombocytopenia syndrome	274000	C0175703	OMIM	0	252	9905	605313
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RFWD3 CL E G H	55159	84				ORPHA	0	326	25539	614151
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RNASEH2A CL E G H	10535	51				ORPHA	0	404	18518	606034
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RNASEH2B CL E G H	79621	51				ORPHA	0	426	25671	610326
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RNASEH2C CL E G H	84153	51				ORPHA	0	307	24116	610330
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ROR2 CL E G H	4920	1507	Congenital unilateral pulmonary hypoplasia			ORPHA	0	605	10257	602337
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RPGRIP1L CL E G H	23322	220497				ORPHA	0	1494	29168	610937
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	0	1494	29168	610937
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RRM2B CL E G H	50484	613077	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	613077	C2751319	OMIM	0	354	17296	604712
HP:0000508	HP:0006837	Congenital Horner syndrome	2	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	RYR1 CL E G H	6261	98905				ORPHA	0	6164	10483	180901
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SALL4 CL E G H	57167	959				ORPHA	0	301	15924	607343
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SAMHD1 CL E G H	25939	51				ORPHA	0	746	15925	606754
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SC5D CL E G H	6309	607330	Lathosterolosis	607330	C1846421	OMIM	0	242	10547	602286
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SCN3A CL E G H	6328	442835				ORPHA	0	1420	10590	182391
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SCN8A CL E G H	6334	442835				ORPHA	0	1799	10596	600702
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SELENON CL E G H	57190	2020				ORPHA	0	651	15999	606210
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SEMA3A CL E G H	10371	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	214	10723	603961
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	1062	10896	164780
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC13A5 CL E G H	284111	442835				ORPHA	0	685	23089	608305
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC16A2 CL E G H	6567	59				ORPHA	0	427	10923	300095
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC1A2 CL E G H	6506	442835				ORPHA	0	359	10940	600300
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLC6A8 CL E G H	6535	52503				ORPHA	0	1062	11055	300036
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SLX4 CL E G H	84464	84				ORPHA	0	1968	23845	613278
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMARCA4 CL E G H	6597	1465				ORPHA	0	4979	11100	603254
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMARCB1 CL E G H	6598	1465				ORPHA	0	1043	11103	601607
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMARCE1 CL E G H	6605	1465				ORPHA	0	780	11109	603111
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMC1A CL E G H	8243	319182				ORPHA	0	939	11111	300040
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	472	2468	606062
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SNAI2 CL E G H	6591	895				ORPHA	0	101	11094	602150
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOX10 CL E G H	6663	895				ORPHA	0	378	11190	602229
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOX10 CL E G H	6663	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	378	11190	602229
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SOX11 CL E G H	6664	1465				ORPHA	0	246	11191	600898
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SPRY4 CL E G H	81848	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	78	15533	607984
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SQSTM1 CL E G H	8878	275872				ORPHA	0	677	11280	601530
HP:0000508	HP:0006837	Congenital Horner syndrome	2	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	STXBP1 CL E G H	6812	442835				ORPHA	0	1017	11444	602926
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SYNE1 CL E G H	23345	98853				ORPHA	0	5789	17089	608441
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SYNE2 CL E G H	23224	98853				ORPHA	0	3314	17084	608442
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SYNGAP1 CL E G H	8831	442835				ORPHA	0	1335	11497	603384
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SYNJ1 CL E G H	8867	442835				ORPHA	0	1315	11503	604297
HP:0000508	HP:0006837	Congenital Horner syndrome	2	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	SZT2 CL E G H	23334	442835				ORPHA	0	2862	29040	615463
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TACR3 CL E G H	6870	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	132	11528	162332
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TARDBP CL E G H	23435	275872				ORPHA	0	309	11571	605078
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TBK1 CL E G H	29110	275872				ORPHA	0	382	11584	604834
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TBX1 CL E G H	6899	1727				ORPHA	0	1169	11592	602054
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TCF12 CL E G H	6938	615314	Craniosynostosis 3	615314	C3715051	OMIM	0	300	11623	600480
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TCTN1 CL E G H	79600	475	Acquired hypoprothrombinemia			ORPHA	0	393	26113	609863
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TCTN2 CL E G H	79867	475	Acquired hypoprothrombinemia			ORPHA	0	622	25774	613846
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TFAP2A CL E G H	7020	1297				ORPHA	0	211	11742	107580
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TGFB3 CL E G H	7043	615582	Loeys-Dietz syndrome 5	615582	C3810012	OMIM	0	551	11769	190230
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TK2 CL E G H	7084	254886				ORPHA	0	442	11831	188250
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	0	75	18188	614123
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM237 CL E G H	65062	220497				ORPHA	0	466	14432	614423
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM237 CL E G H	65062	475	Acquired hypoprothrombinemia			ORPHA	0	466	14432	614423
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM43 CL E G H	79188	98853				ORPHA	0	825	28472	612048
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM67 CL E G H	91147	475	Acquired hypoprothrombinemia			ORPHA	0	928	28396	609884
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	0	928	28396	609884
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TNXB CL E G H	7148	285	Impossible syndrome			ORPHA	0	2159	11976	600985
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TPM2 CL E G H	7169	2020				ORPHA	0	341	12011	190990
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TPM2 CL E G H	7169	171436				ORPHA	0	341	12011	190990
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TPM2 CL E G H	7169	171439				ORPHA	0	341	12011	190990
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TPM3 CL E G H	7170	2020				ORPHA	0	343	12012	191030
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TPM3 CL E G H	7170	171439				ORPHA	0	343	12012	191030
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TRAK1 CL E G H	22906	442835				ORPHA	0	208	29947	608112
HP:0000508	HP:0006837	Congenital Horner syndrome	2	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	TREX1 CL E G H	11277	51				ORPHA	0	418	12269	606609
HP:0000508	HP:0006837	Congenital Horner syndrome	2	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	UBA1 CL E G H	7317	1145				ORPHA	0	631	12469	314370
HP:0000508	HP:0006837	Congenital Horner syndrome	2	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	UBA5 CL E G H	79876	442835				ORPHA	0	223	23230	610552
HP:0000508	HP:0006837	Congenital Horner syndrome	2	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	UBE2T CL E G H	29089	84				ORPHA	0	45	25009	610538
HP:0000508	HP:0006837	Congenital Horner syndrome	2	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	0	316	13478	608047
HP:0000508	HP:0006837	Congenital Horner syndrome	2	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	VAMP1 CL E G H	6843	251282				ORPHA	0	141	12642	185880
HP:0000508	HP:0006837	Congenital Horner syndrome	2	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	VARS2 CL E G H	57176	615917	Combined oxidative phosphorylation deficiency 20	615917	C4014660	OMIM	0	438	21642	612802
HP:0000508	HP:0006837	Congenital Horner syndrome	2	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	VCP CL E G H	7415	275872				ORPHA	0	607	12666	601023
HP:0000508	HP:0006837	Congenital Horner syndrome	2	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	WDR11 CL E G H	55717	478	Acral dysostosis dyserythropoiesis syndrome			ORPHA	0	369	13831	606417
HP:0000508	HP:0006837	Congenital Horner syndrome	2	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	WNT5A CL E G H	7474	3107				ORPHA	0	188	12784	164975
HP:0000508	HP:0006837	Congenital Horner syndrome	2	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	WWOX CL E G H	51741	442835				ORPHA	0	1102	12799	605131
HP:0000508	HP:0006837	Congenital Horner syndrome	2	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	XRCC2 CL E G H	7516	84				ORPHA	0	697	12829	600375
HP:0000508	HP:0006837	Congenital Horner syndrome	2	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	YAP1 CL E G H	10413	120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	120433	C1852750	OMIM	0	82	16262	606608
HP:0000508	HP:0006837	Congenital Horner syndrome	2	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	YAP1 CL E G H	10413	1473	Congenital articular rigidity			ORPHA	0	82	16262	606608
HP:0000508	HP:0006837	Congenital Horner syndrome	2	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	YWHAG CL E G H	7532	442835				ORPHA	0	189	12852	605356
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZC4H2 CL E G H	55906	3454				ORPHA	0	279	24931	300897
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZIC1 CL E G H	7545	616602	Craniosynostosis 6	616602	C4225269	OMIM	0	129	12872	600470
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	659	29316	615951
HP:0000508	HP:0006837	Congenital Horner syndrome	2	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951
HP:0000508	HP:0007911	Congenital bilateral ptosis	2	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	659	29316	615951