Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD 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	21	23336	610627
HP:0000508	HP:0000508	Ptosis	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	661	59	600509
HP:0000508	HP:0000508	Ptosis	0	ABHD5 CL E G H	51099	98907				ORPHA	1	39	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	217	129	102610
HP:0000508	HP:0000508	Ptosis	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	65	132	102630
HP:0000508	HP:0000508	Ptosis	0	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	132	102630
HP:0000508	HP:0000508	Ptosis	0	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	144	102560
HP:0000508	HP:0000508	Ptosis	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	68	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	6	21304	610624
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	101109				ORPHA	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	313772				ORPHA	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	0	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	0	AGRN CL E G H	375790	98913				ORPHA	1	18	329	103320
HP:0000508	HP:0000508	Ptosis	0	AGRN CL E G H	375790	98914				ORPHA	1	18	329	103320
HP:0000508	HP:0000508	Ptosis	0	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	18	329	103320
HP:0000508	HP:0000508	Ptosis	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	21575	608894
HP:0000508	HP:0000508	Ptosis	0	AK9 CL E G H	221264	98913				ORPHA	1	3	33814	615358
HP:0000508	HP:0000508	Ptosis	0	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	12	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	8	414	103850
HP:0000508	HP:0000508	Ptosis	0	ALX1 CL E G H	8092	306542				ORPHA	1	5	1494	601527
HP:0000508	HP:0000508	Ptosis	0	ALX3 CL E G H	257	391474				ORPHA	1	8	449	606014
HP:0000508	HP:0000508	Ptosis	0	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	8	449	606014
HP:0000508	HP:0000508	Ptosis	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	2	29101	616062
HP:0000508	HP:0000508	Ptosis	0	ANO10 CL E G H	55129	284289				ORPHA	1	19	25519	613726
HP:0000508	HP:0000508	Ptosis	0	APOPT1 CL E G H	84334	436271				ORPHA	1		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		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	2	682	607560
HP:0000508	HP:0000508	Ptosis	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	18040	614556
HP:0000508	HP:0000508	Ptosis	0	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	3	694	604695
HP:0000508	HP:0000508	Ptosis	0	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	20730	617612
HP:0000508	HP:0000508	Ptosis	0	ARVCF CL E G H	421	567				ORPHA	1	2	728	602269
HP:0000508	HP:0000508	Ptosis	0	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	6	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	170	886	300032
HP:0000508	HP:0000508	Ptosis	0	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	3	7106	607047
HP:0000508	HP:0000508	Ptosis	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	62	14262	607270
HP:0000508	HP:0000508	Ptosis	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	20207	610308
HP:0000508	HP:0000508	Ptosis	0	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	4	28636	611951
HP:0000508	HP:0000508	Ptosis	0	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	20893	300485
HP:0000508	HP:0000508	Ptosis	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	55	20893	300485
HP:0000508	HP:0000508	Ptosis	0	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	1020	603647
HP:0000508	HP:0000508	Ptosis	0	BDNF CL E G H	627	893				ORPHA	1	35	1033	113505
HP:0000508	HP:0000508	Ptosis	0	BIN1 CL E G H	274	169189				ORPHA	1	17	1052	601248
HP:0000508	HP:0000508	Ptosis	0	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	17	1052	601248
HP:0000508	HP:0000508	Ptosis	0	BPTF CL E G H	2186	529962				ORPHA	1	14	3581	601819
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	500				ORPHA	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	648				ORPHA	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	68	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	18	14255	602410
HP:0000508	HP:0000508	Ptosis	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11	26784	613541
HP:0000508	HP:0000508	Ptosis	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	7	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	43	1541	165360
HP:0000508	HP:0000508	Ptosis	0	CC2D2A CL E G H	57545	2318				ORPHA	1	96	29253	612013
HP:0000508	HP:0000508	Ptosis	0	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	29253	612013
HP:0000508	HP:0000508	Ptosis	0	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	5	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	22	1733	603309
HP:0000508	HP:0000508	Ptosis	0	CEP290 CL E G H	80184	2318				ORPHA	1	310	29021	610142
HP:0000508	HP:0000508	Ptosis	0	CHAT CL E G H	1103	98914				ORPHA	1	77	1912	118490
HP:0000508	HP:0000508	Ptosis	0	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	77	1912	118490
HP:0000508	HP:0000508	Ptosis	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	23	1919	603277
HP:0000508	HP:0000508	Ptosis	0	CHD7 CL E G H	55636	138				ORPHA	1	884	20626	608892
HP:0000508	HP:0000508	Ptosis	0	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	884	20626	608892
HP:0000508	HP:0000508	Ptosis	0	CHRNA1 CL E G H	1134	98913				ORPHA	1	36	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	36	1955	100690
HP:0000508	HP:0000508	Ptosis	0	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	36	1955	100690
HP:0000508	HP:0000508	Ptosis	0	CHRNB1 CL E G H	1140	98913				ORPHA	1	11	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	11	1961	100710
HP:0000508	HP:0000508	Ptosis	0	CHRND CL E G H	1144	98913				ORPHA	1	26	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	26	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	26	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	26	1965	100720
HP:0000508	HP:0000508	Ptosis	0	CHRNE CL E G H	1145	98913				ORPHA	1	138	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	138	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	138	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	138	1966	100725
HP:0000508	HP:0000508	Ptosis	0	CHRNG CL E G H	1146	2990				ORPHA	1	35	1967	100730
HP:0000508	HP:0000508	Ptosis	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	35	1967	100730
HP:0000508	HP:0000508	Ptosis	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	21	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	7	25716	615623
HP:0000508	HP:0000508	Ptosis	0	COL13A1 CL E G H	1305	98914				ORPHA	1	3	2190	120350
HP:0000508	HP:0000508	Ptosis	0	COL13A1 CL E G H	1305	98913				ORPHA	1	3	2190	120350
HP:0000508	HP:0000508	Ptosis	0	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	3	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	4	18603	610004
HP:0000508	HP:0000508	Ptosis	0	COLEC10 CL E G H	10584	293843				ORPHA	1	4	2220	607620
HP:0000508	HP:0000508	Ptosis	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	2220	607620
HP:0000508	HP:0000508	Ptosis	0	COLEC11 CL E G H	78989	293843				ORPHA	1	13	17213	612502
HP:0000508	HP:0000508	Ptosis	0	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	13	17213	612502
HP:0000508	HP:0000508	Ptosis	0	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	70	2226	603033
HP:0000508	HP:0000508	Ptosis	0	COMT CL E G H	1312	567				ORPHA	1	15	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	13	2260	602125
HP:0000508	HP:0000508	Ptosis	0	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	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	1	28216	614478
HP:0000508	HP:0000508	Ptosis	0	COX15 CL E G H	1355	255241				ORPHA	1	5	2263	603646
HP:0000508	HP:0000508	Ptosis	0	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	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	1	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	3	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	1	2294	123870
HP:0000508	HP:0000508	Ptosis	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	3	2309	605032
HP:0000508	HP:0000508	Ptosis	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	2348	600140
HP:0000508	HP:0000508	Ptosis	0	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	20	2457	115440
HP:0000508	HP:0000508	Ptosis	0	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	27	26193	611654
HP:0000508	HP:0000508	Ptosis	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	1	2494	602618
HP:0000508	HP:0000508	Ptosis	0	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	26	2689	609312
HP:0000508	HP:0000508	Ptosis	0	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	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	59	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	64	2858	601465
HP:0000508	HP:0000508	Ptosis	0	DHCR7 CL E G H	1717	818				ORPHA	1	218	2860	602858
HP:0000508	HP:0000508	Ptosis	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	218	2860	602858
HP:0000508	HP:0000508	Ptosis	0	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	5	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	8	2939	601810
HP:0000508	HP:0000508	Ptosis	0	DNM2 CL E G H	1785	169189				ORPHA	1	52	2974	602378
HP:0000508	HP:0000508	Ptosis	0	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	52	2974	602378
HP:0000508	HP:0000508	Ptosis	0	DOK7 CL E G H	285489	98913				ORPHA	1	75	26594	610285
HP:0000508	HP:0000508	Ptosis	0	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	75	26594	610285
HP:0000508	HP:0000508	Ptosis	0	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	75	26594	610285
HP:0000508	HP:0000508	Ptosis	0	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	42	2995	191350
HP:0000508	HP:0000508	Ptosis	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	30	29419	612799
HP:0000508	HP:0000508	Ptosis	0	EBP CL E G H	10682	35173				ORPHA	1	91	3133	300205
HP:0000508	HP:0000508	Ptosis	0	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	33	3147	605896
HP:0000508	HP:0000508	Ptosis	0	ECHS1 CL E G H	1892	255241				ORPHA	1	33	3151	602292
HP:0000508	HP:0000508	Ptosis	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	9	3188	605984
HP:0000508	HP:0000508	Ptosis	0	EFEMP2 CL E G H	30008	90349				ORPHA	1	17	3219	604633
HP:0000508	HP:0000508	Ptosis	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	3373	602700
HP:0000508	HP:0000508	Ptosis	0	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	19	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	3	29160	612322
HP:0000508	HP:0000508	Ptosis	0	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	37	23109	612411
HP:0000508	HP:0000508	Ptosis	0	FBLN5 CL E G H	10516	90349				ORPHA	1	23	3602	604580
HP:0000508	HP:0000508	Ptosis	0	FBN1 CL E G H	2200	2462				ORPHA	1	2721	3603	134797
HP:0000508	HP:0000508	Ptosis	0	FGD1 CL E G H	2245	915				ORPHA	1	51	3663	300546
HP:0000508	HP:0000508	Ptosis	0	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	51	3663	300546
HP:0000508	HP:0000508	Ptosis	0	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	265	3688	136350
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	794				ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	1555				ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	53271				ORPHA	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	93262				ORPHA	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	794				ORPHA	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	7	3693	605830
HP:0000508	HP:0000508	Ptosis	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	7	3749	193067
HP:0000508	HP:0000508	Ptosis	0	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	271	3754	300017
HP:0000508	HP:0000508	Ptosis	0	FOXC2 CL E G H	2303	33001				ORPHA	1	97	3801	602402
HP:0000508	HP:0000508	Ptosis	0	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	97	3801	602402
HP:0000508	HP:0000508	Ptosis	0	FOXE3 CL E G H	2301	88632				ORPHA	1	31	3808	601094
HP:0000508	HP:0000508	Ptosis	0	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	224	1092	605597
HP:0000508	HP:0000508	Ptosis	0	FOXRED1 CL E G H	55572	255241				ORPHA	1	8	26927	613622
HP:0000508	HP:0000508	Ptosis	0	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	848	4195	138079
HP:0000508	HP:0000508	Ptosis	0	GFER CL E G H	2671	330054				ORPHA	1	6	4236	600924
HP:0000508	HP:0000508	Ptosis	0	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	50	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	50	4241	138292
HP:0000508	HP:0000508	Ptosis	0	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	244	4319	165240
HP:0000508	HP:0000508	Ptosis	0	GP1BB CL E G H	2812	567				ORPHA	1	53	4440	138720
HP:0000508	HP:0000508	Ptosis	0	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	2	25169	300969
HP:0000508	HP:0000508	Ptosis	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	20	4593	604473
HP:0000508	HP:0000508	Ptosis	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	13315	300269
HP:0000508	HP:0000508	Ptosis	0	HIRA CL E G H	7290	567				ORPHA	1	5	4916	600237
HP:0000508	HP:0000508	Ptosis	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	1	5004	300193
HP:0000508	HP:0000508	Ptosis	0	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	15	5044	600712
HP:0000508	HP:0000508	Ptosis	0	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	6	5111	142968
HP:0000508	HP:0000508	Ptosis	0	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	18	5154	601688
HP:0000508	HP:0000508	Ptosis	0	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	18	5154	601688
HP:0000508	HP:0000508	Ptosis	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	34	5173	190020
HP:0000508	HP:0000508	Ptosis	0	HSPG2 CL E G H	3339	800				ORPHA	1	67	5273	142461
HP:0000508	HP:0000508	Ptosis	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	67	5273	142461
HP:0000508	HP:0000508	Ptosis	0	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	640	5389	300823
HP:0000508	HP:0000508	Ptosis	0	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	4	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	13	5464	147440
HP:0000508	HP:0000508	Ptosis	0	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	54	21474	613037
HP:0000508	HP:0000508	Ptosis	0	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	83	6081	176730
HP:0000508	HP:0000508	Ptosis	0	JMJD1C CL E G H	221037	567				ORPHA	1	29	12313	604503
HP:0000508	HP:0000508	Ptosis	0	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	72	24565	612452
HP:0000508	HP:0000508	Ptosis	0	KAT6A CL E G H	7994	457193				ORPHA	1	29	13013	601408
HP:0000508	HP:0000508	Ptosis	0	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	29	13013	601408
HP:0000508	HP:0000508	Ptosis	0	KAT6B CL E G H	23522	648				ORPHA	1	76	17582	605880
HP:0000508	HP:0000508	Ptosis	0	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	187	6257	600937
HP:0000508	HP:0000508	Ptosis	0	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	33	18039	605393
HP:0000508	HP:0000508	Ptosis	0	KDM6A CL E G H	7403	2322				ORPHA	1	81	12637	300128
HP:0000508	HP:0000508	Ptosis	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	12637	300128
HP:0000508	HP:0000508	Ptosis	0	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1	2	29068	616650
HP:0000508	HP:0000508	Ptosis	0	KIF1BP CL E G H	26128	66629				ORPHA	1	10	23419	609367
HP:0000508	HP:0000508	Ptosis	0	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1	10	23419	609367
HP:0000508	HP:0000508	Ptosis	0	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	69	6323	602821
HP:0000508	HP:0000508	Ptosis	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	7132	159555
HP:0000508	HP:0000508	Ptosis	0	KMT2D CL E G H	8085	2322				ORPHA	1	712	7133	602113
HP:0000508	HP:0000508	Ptosis	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	7133	602113
HP:0000508	HP:0000508	Ptosis	0	KRAS CL E G H	3845	648				ORPHA	1	45	6407	190070
HP:0000508	HP:0000508	Ptosis	0	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	45	6407	190070
HP:0000508	HP:0000508	Ptosis	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	45	6407	190070
HP:0000508	HP:0000508	Ptosis	0	KRT14 CL E G H	3861	79399				ORPHA	1	118	6416	148066
HP:0000508	HP:0000508	Ptosis	0	KRT5 CL E G H	3852	79399				ORPHA	1	155	6442	148040
HP:0000508	HP:0000508	Ptosis	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	4	6556	604407
HP:0000508	HP:0000508	Ptosis	0	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	4	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	9	18712	608303
HP:0000508	HP:0000508	Ptosis	0	LIG4 CL E G H	3981	235				ORPHA	1	40	6601	601837
HP:0000508	HP:0000508	Ptosis	0	LIPT1 CL E G H	51601	255241				ORPHA	1	9	29569	610284
HP:0000508	HP:0000508	Ptosis	0	LMNA CL E G H	4000	2229				ORPHA	1	574	6636	150330
HP:0000508	HP:0000508	Ptosis	0	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	195	6654	602575
HP:0000508	HP:0000508	Ptosis	0	LONP1 CL E G H	9361	1458				ORPHA	1	19	9479	605490
HP:0000508	HP:0000508	Ptosis	0	LRP4 CL E G H	4038	98913				ORPHA	1	34	6696	604270
HP:0000508	HP:0000508	Ptosis	0	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	34	6696	604270
HP:0000508	HP:0000508	Ptosis	0	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	34	6696	604270
HP:0000508	HP:0000508	Ptosis	0	LZTR1 CL E G H	8216	648				ORPHA	1	86	6742	600574
HP:0000508	HP:0000508	Ptosis	0	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	86	6742	600574
HP:0000508	HP:0000508	Ptosis	0	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	22	6776	177075
HP:0000508	HP:0000508	Ptosis	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	23	6840	176872
HP:0000508	HP:0000508	Ptosis	0	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	23	6840	176872
HP:0000508	HP:0000508	Ptosis	0	MAP2K2 CL E G H	5605	638				ORPHA	1	35	6842	601263
HP:0000508	HP:0000508	Ptosis	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	35	6842	601263
HP:0000508	HP:0000508	Ptosis	0	MARK3 CL E G H	4140	618283	618283	618283		OMIM	1	2	6897	602678
HP:0000508	HP:0000508	Ptosis	0	MASP1 CL E G H	5648	293843				ORPHA	1	22	6901	600521
HP:0000508	HP:0000508	Ptosis	0	MASP1 CL E G H	5648	257920	Michels syndrome	257920	C0796059	OMIM	1	22	6901	600521
HP:0000508	HP:0000508	Ptosis	0	MCM5 CL E G H	4174	617564	MEIER-GORLIN SYNDROME 8	617564	C4479655	OMIM	1	3	6948	602696
HP:0000508	HP:0000508	Ptosis	0	MECP2 CL E G H	4204	1762				ORPHA	1	1050	6990	300005
HP:0000508	HP:0000508	Ptosis	0	MED12 CL E G H	9968	300895	Ohdo syndrome, X-linked	300895	C3698541	OMIM	1	34	11957	300188
HP:0000508	HP:0000508	Ptosis	0	MED25 CL E G H	81857	616449	Basel-Vanagaite-Smirin-Yosef syndrome	616449	C4225323	OMIM	1	5	28845	610197
HP:0000508	HP:0000508	Ptosis	0	MGME1 CL E G H	92667	352447				ORPHA	1	7	16205	615076
HP:0000508	HP:0000508	Ptosis	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	7	16205	615076
HP:0000508	HP:0000508	Ptosis	0	MRPS34 CL E G H	65993	617664	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32	617664	C4540029	OMIM	1	4	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	17	29666	611766
HP:0000508	HP:0000508	Ptosis	0	MTM1 CL E G H	4534	596	Albright like syndrome			ORPHA	1	327	7448	300415
HP:0000508	HP:0000508	Ptosis	0	MTMR14 CL E G H	64419	169189				ORPHA	1	3	26190	611089
HP:0000508	HP:0000508	Ptosis	0	MUSK CL E G H	4593	98913				ORPHA	1	22	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	22	7525	601296
HP:0000508	HP:0000508	Ptosis	0	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	22	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	2	7565	159990
HP:0000508	HP:0000508	Ptosis	0	MYF6 CL E G H	4618	169189				ORPHA	1	2	7566	159991
HP:0000508	HP:0000508	Ptosis	0	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	45	7573	160720
HP:0000508	HP:0000508	Ptosis	0	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	45	7573	160720
HP:0000508	HP:0000508	Ptosis	0	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	1	45	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	1002	7577	160760
HP:0000508	HP:0000508	Ptosis	0	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	3	7578	160741
HP:0000508	HP:0000508	Ptosis	0	MYMK CL E G H	389827	1358				ORPHA	1	7	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	7	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	6	18150	607295
HP:0000508	HP:0000508	Ptosis	0	MYO9A CL E G H	4649	98914				ORPHA	1	6	7608	604875
HP:0000508	HP:0000508	Ptosis	0	MYO9A CL E G H	4649	618198	MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC	618198		OMIM	1	6	7608	604875
HP:0000508	HP:0000508	Ptosis	0	NAA10 CL E G H	8260	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	10	18704	300013
HP:0000508	HP:0000508	Ptosis	0	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	65	19082	611549
HP:0000508	HP:0000508	Ptosis	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	14	26274	612803
HP:0000508	HP:0000508	Ptosis	0	NDUFA10 CL E G H	4705	255241				ORPHA	1	6	7684	603835
HP:0000508	HP:0000508	Ptosis	0	NDUFA12 CL E G H	55967	255241				ORPHA	1	4	23987	614530
HP:0000508	HP:0000508	Ptosis	0	NDUFA13 CL E G H	51079	255241				ORPHA	1	3	17194	609435
HP:0000508	HP:0000508	Ptosis	0	NDUFA2 CL E G H	4695	255241				ORPHA	1	4	7685	602137
HP:0000508	HP:0000508	Ptosis	0	NDUFA4 CL E G H	4697	255241				ORPHA	1	2	7687	603833
HP:0000508	HP:0000508	Ptosis	0	NDUFA9 CL E G H	4704	255241				ORPHA	1	3	7693	603834
HP:0000508	HP:0000508	Ptosis	0	NDUFAF2 CL E G H	91942	255241				ORPHA	1	8	28086	609653
HP:0000508	HP:0000508	Ptosis	0	NDUFAF5 CL E G H	79133	255241				ORPHA	1	12	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	12	15899	612360
HP:0000508	HP:0000508	Ptosis	0	NDUFAF6 CL E G H	137682	255241				ORPHA	1	10	28625	612392
HP:0000508	HP:0000508	Ptosis	0	NDUFS1 CL E G H	4719	255241				ORPHA	1	28	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	28	7707	157655
HP:0000508	HP:0000508	Ptosis	0	NDUFS2 CL E G H	4720	255241				ORPHA	1	24	7708	602985
HP:0000508	HP:0000508	Ptosis	0	NDUFS3 CL E G H	4722	255241				ORPHA	1	3	7710	603846
HP:0000508	HP:0000508	Ptosis	0	NDUFS4 CL E G H	4724	255241				ORPHA	1	17	7711	602694
HP:0000508	HP:0000508	Ptosis	0	NDUFS4 CL E G H	4724	252010	Mitochondrial complex I deficiency	252010	C1838979	OMIM	1	17	7711	602694
HP:0000508	HP:0000508	Ptosis	0	NDUFS7 CL E G H	374291	255241				ORPHA	1	8	7714	601825
HP:0000508	HP:0000508	Ptosis	0	NDUFS8 CL E G H	4728	255241				ORPHA	1	13	7715	602141
HP:0000508	HP:0000508	Ptosis	0	NDUFV1 CL E G H	4723	255241				ORPHA	1	36	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	36	7716	161015
HP:0000508	HP:0000508	Ptosis	0	NDUFV2 CL E G H	4729	255241				ORPHA	1	8	7717	600532
HP:0000508	HP:0000508	Ptosis	0	NELFA CL E G H	7469	280	Halal Setton Wang syndrome			ORPHA	1	4	12768	606026
HP:0000508	HP:0000508	Ptosis	0	NF1 CL E G H	4763	638				ORPHA	1	3011	7765	613113
HP:0000508	HP:0000508	Ptosis	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	28862	608667
HP:0000508	HP:0000508	Ptosis	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	28862	608667
HP:0000508	HP:0000508	Ptosis	0	NOTCH3 CL E G H	4854	2789				ORPHA	1	379	7883	600276
HP:0000508	HP:0000508	Ptosis	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	379	7883	600276
HP:0000508	HP:0000508	Ptosis	0	NRAS CL E G H	4893	648				ORPHA	1	14	7989	164790
HP:0000508	HP:0000508	Ptosis	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	14	12766	602952
HP:0000508	HP:0000508	Ptosis	0	NSD2 CL E G H	7468	280	Halal Setton Wang syndrome			ORPHA	1	14	12766	602952
HP:0000508	HP:0000508	Ptosis	0	NSUN2 CL E G H	54888	235				ORPHA	1	7	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	394	8140	605290
HP:0000508	HP:0000508	Ptosis	0	PABPN1 CL E G H	8106	270				ORPHA	1	23	8565	602279
HP:0000508	HP:0000508	Ptosis	0	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	2	30032	607492
HP:0000508	HP:0000508	Ptosis	0	PAX6 CL E G H	5080	893				ORPHA	1	571	8620	607108
HP:0000508	HP:0000508	Ptosis	0	PDGFRB CL E G H	5159	616592	Kosaki overgrowth syndrome	616592	C4225270	OMIM	1	24	8804	173410
HP:0000508	HP:0000508	Ptosis	0	PDHA1 CL E G H	5160	255241				ORPHA	1	193	8806	300502
HP:0000508	HP:0000508	Ptosis	0	PDHA1 CL E G H	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	312170	C1839413	OMIM	1	193	8806	300502
HP:0000508	HP:0000508	Ptosis	0	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	33	6107	600733
HP:0000508	HP:0000508	Ptosis	0	PEPD CL E G H	5184	170100	Prolidase deficiency	170100	C0268532	OMIM	1	31	8840	613230
HP:0000508	HP:0000508	Ptosis	0	PET100 CL E G H	100131801	255241				ORPHA	1	2	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	2	40038	614770
HP:0000508	HP:0000508	Ptosis	0	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	140	8850	602136
HP:0000508	HP:0000508	Ptosis	0	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	32	8851	602859
HP:0000508	HP:0000508	Ptosis	0	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	8	8853	603867
HP:0000508	HP:0000508	Ptosis	0	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	37	8854	601758
HP:0000508	HP:0000508	Ptosis	0	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	10	8855	601789
HP:0000508	HP:0000508	Ptosis	0	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	5	8856	601791
HP:0000508	HP:0000508	Ptosis	0	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	15	8857	603360
HP:0000508	HP:0000508	Ptosis	0	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	4	9713	600279
HP:0000508	HP:0000508	Ptosis	0	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	18	9717	170993
HP:0000508	HP:0000508	Ptosis	0	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	27	22965	608666
HP:0000508	HP:0000508	Ptosis	0	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	10	8858	603164
HP:0000508	HP:0000508	Ptosis	0	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	14	9719	600414
HP:0000508	HP:0000508	Ptosis	0	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	109	8859	601498
HP:0000508	HP:0000508	Ptosis	0	PEX7 CL E G H	5191	773				ORPHA	1	53	8860	601757
HP:0000508	HP:0000508	Ptosis	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	53	8860	601757
HP:0000508	HP:0000508	Ptosis	0	PHF6 CL E G H	84295	127				ORPHA	1	29	18145	300414
HP:0000508	HP:0000508	Ptosis	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	29	18145	300414
HP:0000508	HP:0000508	Ptosis	0	PHYH CL E G H	5264	773				ORPHA	1	37	8940	602026
HP:0000508	HP:0000508	Ptosis	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	37	8940	602026
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	2461				ORPHA	1	32	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	32	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	114300	Gordon's syndrome	114300	C0220666	OMIM	1	32	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	248700	Marden-Walker syndrome	248700	C0796033	OMIM	1	32	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIEZO2 CL E G H	63895	108145	Oculomelic amyoplasia	108145	C1862472	OMIM	1	32	26270	613629
HP:0000508	HP:0000508	Ptosis	0	PIGL CL E G H	9487	3474	Meningoencephalocele-arthrogryposis-hypoplastic thumb			ORPHA	1	11	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	9	8980	603157
HP:0000508	HP:0000508	Ptosis	0	PITX3 CL E G H	5309	88632				ORPHA	1	15	9006	602669
HP:0000508	HP:0000508	Ptosis	0	PLEC CL E G H	5339	257				ORPHA	1	104	9069	601282
HP:0000508	HP:0000508	Ptosis	0	PLXND1 CL E G H	23129	570				ORPHA	1	8	9107	604282
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	70595				ORPHA	1	300	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	254892				ORPHA	1	300	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	300	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	300	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	300	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	300	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	300	9179	174763
HP:0000508	HP:0000508	Ptosis	0	POLG2 CL E G H	11232	254892				ORPHA	1	14	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	14	9180	604983
HP:0000508	HP:0000508	Ptosis	0	PREPL CL E G H	9581	163690				ORPHA	1	18	30228	609557
HP:0000508	HP:0000508	Ptosis	0	PREPL CL E G H	9581	616224	Myasthenic syndrome, congenital, 22	616224	C4479088	OMIM	1	18	30228	609557
HP:0000508	HP:0000508	Ptosis	0	PSMD12 CL E G H	5718	529962				ORPHA	1	10	9557	604450
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	648				ORPHA	1	143	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	500				ORPHA	1	143	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	151100	LEOPARD syndrome 1	151100	CN074218	OMIM	1	143	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	143	9644	176876
HP:0000508	HP:0000508	Ptosis	0	PUM1 CL E G H	9698	617931	SPINOCEREBELLAR ATAXIA 47	617931	CN244564	OMIM	1	12	14957	607204
HP:0000508	HP:0000508	Ptosis	0	QRICH1 CL E G H	54870	617982	VERVERI-BRADY SYNDROME	617982	CN244927	OMIM	1	9	24713	617387
HP:0000508	HP:0000508	Ptosis	0	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	67	17063	602536
HP:0000508	HP:0000508	Ptosis	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	13	9811	606462
HP:0000508	HP:0000508	Ptosis	0	RAF1 CL E G H	5894	648				ORPHA	1	54	9829	164760
HP:0000508	HP:0000508	Ptosis	0	RAF1 CL E G H	5894	500				ORPHA	1	54	9829	164760
HP:0000508	HP:0000508	Ptosis	0	RAF1 CL E G H	5894	611553	Noonan syndrome 5	611553	C1969057	OMIM	1	54	9829	164760
HP:0000508	HP:0000508	Ptosis	0	RAP1A CL E G H	5906	2322				ORPHA	1	2	9855	179520
HP:0000508	HP:0000508	Ptosis	0	RAP1B CL E G H	5908	2322				ORPHA	1	1	9857	179530
HP:0000508	HP:0000508	Ptosis	0	RAPSN CL E G H	5913	98913				ORPHA	1	60	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	60	9863	601592
HP:0000508	HP:0000508	Ptosis	0	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	60	9863	601592
HP:0000508	HP:0000508	Ptosis	0	RASA2 CL E G H	5922	648				ORPHA	1	3	9872	601589
HP:0000508	HP:0000508	Ptosis	0	RB1 CL E G H	5925	1587	Craniosynostosis arthrogryposis cleft palate			ORPHA	1	1113	9884	614041
HP:0000508	HP:0000508	Ptosis	0	REV3L CL E G H	5980	570				ORPHA	1	9	9968	602776
HP:0000508	HP:0000508	Ptosis	0	RIT1 CL E G H	6016	648				ORPHA	1	26	10023	609591
HP:0000508	HP:0000508	Ptosis	0	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	26	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	4	18466	604123
HP:0000508	HP:0000508	Ptosis	0	RPGRIP1L CL E G H	23322	216360	COACH syndrome	216360	C1857662	OMIM	1	51	29168	610937
HP:0000508	HP:0000508	Ptosis	0	RPGRIP1L CL E G H	23322	611560	Joubert syndrome 7	611560	C1969053	OMIM	1	51	29168	610937
HP:0000508	HP:0000508	Ptosis	0	RRAS CL E G H	6237	648				ORPHA	1	2	10447	165090
HP:0000508	HP:0000508	Ptosis	0	RREB1 CL E G H	6239	567				ORPHA	1	12	10449	602209
HP:0000508	HP:0000508	Ptosis	0	RRM2B CL E G H	50484	254892				ORPHA	1	43	17296	604712
HP:0000508	HP:0000508	Ptosis	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	43	17296	604712
HP:0000508	HP:0000508	Ptosis	0	RSPRY1 CL E G H	89970	616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	616723	C4225232	OMIM	1	4	29420	616585
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	169189				ORPHA	1	688	10483	180901
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	424107				ORPHA	1	688	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	688	10483	180901
HP:0000508	HP:0000508	Ptosis	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	688	10483	180901
HP:0000508	HP:0000508	Ptosis	0	SC5D CL E G H	6309	46059				ORPHA	1	6	10547	602286
HP:0000508	HP:0000508	Ptosis	0	SCN4A CL E G H	6329	98913				ORPHA	1	129	10591	603967
HP:0000508	HP:0000508	Ptosis	0	SCN4A CL E G H	6329	614198	Congenital myasthenic syndrome, acetazolamide-responsive	614198	C3502630	OMIM	1	129	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	5	10603	603644
HP:0000508	HP:0000508	Ptosis	0	SCO2 CL E G H	9997	521411				ORPHA	1	37	10604	604272
HP:0000508	HP:0000508	Ptosis	0	SDHA CL E G H	6389	255241				ORPHA	1	91	10680	600857
HP:0000508	HP:0000508	Ptosis	0	SDHA CL E G H	6389	256000	Leigh syndrome	256000	C0023264	OMIM	1	91	10680	600857
HP:0000508	HP:0000508	Ptosis	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	91	10680	600857
HP:0000508	HP:0000508	Ptosis	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	6	33867	612848
HP:0000508	HP:0000508	Ptosis	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	174	10683	602690
HP:0000508	HP:0000508	Ptosis	0	SEC24C CL E G H	9632	567				ORPHA	1		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	63	15999	606210
HP:0000508	HP:0000508	Ptosis	0	SEMA3E CL E G H	9723	138				ORPHA	1	4	10727	608166
HP:0000508	HP:0000508	Ptosis	0	SEMA3E CL E G H	9723	214800	CHARGE association	214800	C0265354	OMIM	1	4	10727	608166
HP:0000508	HP:0000508	Ptosis	0	SEPT9 CL E G H	10801	162100	Amyotrophy, hereditary neuralgic	162100	C1834304	OMIM	1		7323	604061
HP:0000508	HP:0000508	Ptosis	0	SETBP1 CL E G H	26040	616078	Mental retardation, autosomal dominant 29	616078	C4015141	OMIM	1	47	15573	611060
HP:0000508	HP:0000508	Ptosis	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	38	25566	615743
HP:0000508	HP:0000508	Ptosis	0	SF3B4 CL E G H	10262	245				ORPHA	1	38	10771	605593
HP:0000508	HP:0000508	Ptosis	0	SGPL1 CL E G H	8879	617575	Nephrotic syndrome type 14	617575	C4539778	OMIM	1	18	10817	603729
HP:0000508	HP:0000508	Ptosis	0	SHANK3 CL E G H	85358	48652				ORPHA	1	194	14294	606230
HP:0000508	HP:0000508	Ptosis	0	SHANK3 CL E G H	85358	606232	22q13.3 deletion syndrome	606232	C1853490	OMIM	1	194	14294	606230
HP:0000508	HP:0000508	Ptosis	0	SIX2 CL E G H	10736	488437				ORPHA	1	9	10888	604994
HP:0000508	HP:0000508	Ptosis	0	SKI CL E G H	6497	2462				ORPHA	1	24	10896	164780
HP:0000508	HP:0000508	Ptosis	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	20	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	55	10933	604322
HP:0000508	HP:0000508	Ptosis	0	SLC18A2 CL E G H	6571	352649				ORPHA	1	8	10935	193001
HP:0000508	HP:0000508	Ptosis	0	SLC18A2 CL E G H	6571	618049	PARKINSONISM-DYSTONIA, INFANTILE, 2	618049	CN248785	OMIM	1	8	10935	193001
HP:0000508	HP:0000508	Ptosis	0	SLC18A3 CL E G H	6572	98914				ORPHA	1	6	10936	600336
HP:0000508	HP:0000508	Ptosis	0	SLC18A3 CL E G H	6572	617239	Myasthenic syndrome, congenital, 21, presynaptic	617239	C4310654	OMIM	1	6	10936	600336
HP:0000508	HP:0000508	Ptosis	0	SLC19A3 CL E G H	80704	255241				ORPHA	1	38	16266	606152
HP:0000508	HP:0000508	Ptosis	0	SLC19A3 CL E G H	80704	607483	Basal ganglia disease, biotin-responsive	607483	C1843807	OMIM	1	38	16266	606152
HP:0000508	HP:0000508	Ptosis	0	SLC25A1 CL E G H	6576	98914				ORPHA	1	24	10979	190315
HP:0000508	HP:0000508	Ptosis	0	SLC25A4 CL E G H	291	254892				ORPHA	1	17	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	17	10990	103220
HP:0000508	HP:0000508	Ptosis	0	SLC30A9 CL E G H	10463	617595	Birk-Landau-Perez syndrome	617595	C4539828	OMIM	1	2	1329	604604
HP:0000508	HP:0000508	Ptosis	0	SLC3A1 CL E G H	6519	163690				ORPHA	1	241	11025	104614
HP:0000508	HP:0000508	Ptosis	0	SLC52A2 CL E G H	79581	97229				ORPHA	1	27	30224	607882
HP:0000508	HP:0000508	Ptosis	0	SLC52A3 CL E G H	113278	97229				ORPHA	1	44	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	44	16187	613350
HP:0000508	HP:0000508	Ptosis	0	SLC52A3 CL E G H	113278	211500	Progressive bulbar palsy of childhood	211500	C0393540	OMIM	1	44	16187	613350
HP:0000508	HP:0000508	Ptosis	0	SLC5A7 CL E G H	60482	98914				ORPHA	1	20	14025	608761
HP:0000508	HP:0000508	Ptosis	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	1	20	14025	608761
HP:0000508	HP:0000508	Ptosis	0	SLC6A8 CL E G H	6535	300352	Creatine deficiency, X-linked	300352	C1845862	OMIM	1	139	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	3	11056	601019
HP:0000508	HP:0000508	Ptosis	0	SLCO2A1 CL E G H	6578	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	76	10955	601460
HP:0000508	HP:0000508	Ptosis	0	SMAD4 CL E G H	4089	2588				ORPHA	1	147	6770	600993
HP:0000508	HP:0000508	Ptosis	0	SMARCE1 CL E G H	6605	616938	Coffin-Siris syndrome 5	616938	C4310788	OMIM	1	13	11109	603111
HP:0000508	HP:0000508	Ptosis	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	100	11111	300040
HP:0000508	HP:0000508	Ptosis	0	SMC1A CL E G H	8243	300590	Congenital muscular hypertrophy-cerebral syndrome	300590	C1802395	OMIM	1	100	11111	300040
HP:0000508	HP:0000508	Ptosis	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	28	2468	606062
HP:0000508	HP:0000508	Ptosis	0	SNAP25 CL E G H	6616	98914				ORPHA	1	7	11132	600322
HP:0000508	HP:0000508	Ptosis	0	SNAP25 CL E G H	6616	616330	Myasthenic syndrome, congenital, 18	616330	C4225364	OMIM	1	7	11132	600322
HP:0000508	HP:0000508	Ptosis	0	SOS1 CL E G H	6654	648				ORPHA	1	75	11187	182530
HP:0000508	HP:0000508	Ptosis	0	SOS1 CL E G H	6654	610733	Noonan syndrome 4	610733	C1853120	OMIM	1	75	11187	182530
HP:0000508	HP:0000508	Ptosis	0	SOS2 CL E G H	6655	648				ORPHA	1	6	11188	601247
HP:0000508	HP:0000508	Ptosis	0	SOS2 CL E G H	6655	616559	Noonan syndrome 9	616559	C4225282	OMIM	1	6	11188	601247
HP:0000508	HP:0000508	Ptosis	0	SOST CL E G H	50964	3152	Kuster syndrome			ORPHA	1	17	13771	605740
HP:0000508	HP:0000508	Ptosis	0	SPECC1L CL E G H	23384	1519				ORPHA	1	8	29022	614140
HP:0000508	HP:0000508	Ptosis	0	SPECC1L CL E G H	23384	145420	Brachycephalofrontonasal dysplasia	145420	C0796179	OMIM	1	8	29022	614140
HP:0000508	HP:0000508	Ptosis	0	SPR CL E G H	6697	70594				ORPHA	1	25	11257	182125
HP:0000508	HP:0000508	Ptosis	0	SPRED1 CL E G H	161742	611431	Legius syndrome	611431	C1969623	OMIM	1	72	20249	609291
HP:0000508	HP:0000508	Ptosis	0	STAC3 CL E G H	246329	255995	Native American myopathy	255995	C1850625	OMIM	1	4	28423	615521
HP:0000508	HP:0000508	Ptosis	0	STAMBP CL E G H	10617	614261	Microcephaly-capillary malformation syndrome	614261	C3280296	OMIM	1	20	16950	606247
HP:0000508	HP:0000508	Ptosis	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	29	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	29	11448	603921
HP:0000508	HP:0000508	Ptosis	0	SURF1 CL E G H	6834	255241				ORPHA	1	128	11474	185620
HP:0000508	HP:0000508	Ptosis	0	SURF1 CL E G H	6834	256000	Leigh syndrome	256000	C0023264	OMIM	1	128	11474	185620
HP:0000508	HP:0000508	Ptosis	0	SYT2 CL E G H	127833	98914				ORPHA	1	3	11510	600104
HP:0000508	HP:0000508	Ptosis	0	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	25	29040	615463
HP:0000508	HP:0000508	Ptosis	0	TAB2 CL E G H	23118	228410				ORPHA	1	33	17075	605101
HP:0000508	HP:0000508	Ptosis	0	TACO1 CL E G H	51204	255241				ORPHA	1	3	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	3	24316	612958
HP:0000508	HP:0000508	Ptosis	0	TBC1D20 CL E G H	128637	615663	Warburg micro syndrome 4	615663	C3810265	OMIM	1	7	16133	611663
HP:0000508	HP:0000508	Ptosis	0	TBX1 CL E G H	6899	567				ORPHA	1	82	11592	602054
HP:0000508	HP:0000508	Ptosis	0	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	333	11654	606847
HP:0000508	HP:0000508	Ptosis	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	44	11742	107580
HP:0000508	HP:0000508	Ptosis	0	TFAP2B CL E G H	7021	46627				ORPHA	1	15	11743	601601
HP:0000508	HP:0000508	Ptosis	0	TFAP2B CL E G H	7021	169100	Char syndrome	169100	C1868570	OMIM	1	15	11743	601601
HP:0000508	HP:0000508	Ptosis	0	TGIF1 CL E G H	7050	142946	Holoprosencephaly 4	142946	C1840528	OMIM	1	28	11776	602630
HP:0000508	HP:0000508	Ptosis	0	TH CL E G H	7054	101150				ORPHA	1	77	11782	191290
HP:0000508	HP:0000508	Ptosis	0	TH CL E G H	7054	605407	Segawa syndrome, autosomal recessive	605407	C1854299	OMIM	1	77	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	60	11831	188250
HP:0000508	HP:0000508	Ptosis	0	TLK2 CL E G H	11011	618050	MENTAL RETARDATION, AUTOSOMAL DOMINANT 57	618050	CN252334	OMIM	1	39	11842	608439
HP:0000508	HP:0000508	Ptosis	0	TMEM107 CL E G H	84314	617563	OROFACIODIGITAL SYNDROME XVI	617563	C4539729	OMIM	1	3	28128	616183
HP:0000508	HP:0000508	Ptosis	0	TMEM138 CL E G H	51524	2318				ORPHA	1	9	26944	614459
HP:0000508	HP:0000508	Ptosis	0	TMEM216 CL E G H	51259	2318				ORPHA	1	8	25018	613277
HP:0000508	HP:0000508	Ptosis	0	TMEM231 CL E G H	79583	2318				ORPHA	1	19	37234	614949
HP:0000508	HP:0000508	Ptosis	0	TMEM237 CL E G H	65062	2318				ORPHA	1	11	14432	614423
HP:0000508	HP:0000508	Ptosis	0	TMEM237 CL E G H	65062	614424	Joubert syndrome 14	614424	C3280766	OMIM	1	11	14432	614423
HP:0000508	HP:0000508	Ptosis	0	TMEM67 CL E G H	91147	216360	COACH syndrome	216360	C1857662	OMIM	1	174	28396	609884
HP:0000508	HP:0000508	Ptosis	0	TMEM67 CL E G H	91147	602152	RHYNS syndrome	602152	C1865794	OMIM	1	174	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	7	11992	601243
HP:0000508	HP:0000508	Ptosis	0	TP63 CL E G H	8626	129400	Rapp-Hodgkin ectodermal dysplasia syndrome	129400	C1785148	OMIM	1	128	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	40	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	28	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	5	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	346	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	26	20772	602661
HP:0000508	HP:0000508	Ptosis	0	TWIST1 CL E G H	7291	794				ORPHA	1	209	12428	601622
HP:0000508	HP:0000508	Ptosis	0	TWIST1 CL E G H	7291	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	209	12428	601622
HP:0000508	HP:0000508	Ptosis	0	TWNK CL E G H	56652	254892				ORPHA	1	83	1160	606075
HP:0000508	HP:0000508	Ptosis	0	TWNK CL E G H	56652	70595				ORPHA	1	83	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	83	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	83	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	95	3148	131222
HP:0000508	HP:0000508	Ptosis	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	95	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	5	12469	314370
HP:0000508	HP:0000508	Ptosis	0	UFD1 CL E G H	7353	567				ORPHA	1	4	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	26	26582	612636
HP:0000508	HP:0000508	Ptosis	0	VAMP1 CL E G H	6843	98914				ORPHA	1	6	12642	185880
HP:0000508	HP:0000508	Ptosis	0	VAMP1 CL E G H	6843	108600	Ataxia, spastic, 1, autosomal dominant	108600	C1970107	OMIM	1	6	12642	185880
HP:0000508	HP:0000508	Ptosis	0	WDR73 CL E G H	84942	251300	Galloway-Mowat syndrome 1	251300	CN031715	OMIM	1	12	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	393	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	184	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	13	24249	610957
HP:0000508	HP:0000508	Ptosis	0	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	25	13503	606025
HP:0000508	HP:0000508	Ptosis	0	ZC4H2 CL E G H	55906	314580	Wieacker Wolff syndrome	314580	C0796200	OMIM	1	17	24931	300897
HP:0000508	HP:0000508	Ptosis	0	ZEB2 CL E G H	9839	235730	Mowat-Wilson syndrome	235730	C1856113	OMIM	1	298	14881	605802
HP:0000508	HP:0000508	Ptosis	0	ZMYND11 CL E G H	10771	616083	Mental retardation, autosomal dominant 30	616083	C4015167	OMIM	1	15	16966	608668
HP:0000508	HP:0000508	Ptosis	0	ZNF423 CL E G H	23090	2318				ORPHA	1	9	16762	604557
HP:0000508	HP:0000508	Ptosis	1	A2ML1 CL E G H	144568	648				ORPHA	1	21	23336	610627
HP:0000508	HP:0000508	Ptosis	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	661	59	600509
HP:0000508	HP:0000508	Ptosis	1	ABHD5 CL E G H	51099	98907				ORPHA	1	39	21396	604780
HP:0000508	HP:0000508	Ptosis	1	ACTA1 CL E G H	58	255310	Congenital myopathy with fiber type disproportion	255310	C0546264	OMIM	1	217	129	102610
HP:0000508	HP:0000508	Ptosis	1	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	65	132	102630
HP:0000508	HP:0000508	Ptosis	1	ACTB CL E G H	60	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	65	132	102630
HP:0000508	HP:0000508	Ptosis	1	ACTG1 CL E G H	71	2995	Infant epilepsy with migrant focal crisis			ORPHA	1	48	144	102560
HP:0000508	HP:0000508	Ptosis	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	68	15766	611386
HP:0000508	HP:0000508	Ptosis	1	ADPRHL2 CL E G H	54936	618170	NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES	618170		OMIM	1	6	21304	610624
HP:0000508	HP:0000508	Ptosis	1	AFG3L2 CL E G H	10939	101109				ORPHA	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	1	AFG3L2 CL E G H	10939	313772				ORPHA	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	1	AFG3L2 CL E G H	10939	614487	Spastic ataxia 5, autosomal recessive	614487	C3280977	OMIM	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	1	AFG3L2 CL E G H	10939	610246	Spinocerebellar ataxia 28	610246	C1853249	OMIM	1	40	315	604581
HP:0000508	HP:0000508	Ptosis	1	AGRN CL E G H	375790	98914				ORPHA	1	18	329	103320
HP:0000508	HP:0000508	Ptosis	1	AGRN CL E G H	375790	98913				ORPHA	1	18	329	103320
HP:0000508	HP:0000508	Ptosis	1	AGRN CL E G H	375790	615120	Myasthenic syndrome, congenital, 8	615120	C3808739	OMIM	1	18	329	103320
HP:0000508	HP:0000508	Ptosis	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	21575	608894
HP:0000508	HP:0000508	Ptosis	1	AK9 CL E G H	221264	98913				ORPHA	1	3	33814	615358
HP:0000508	HP:0000508	Ptosis	1	AKT1 CL E G H	207	176920	Proteus syndrome	176920	C0085261	OMIM	1	12	391	164730
HP:0000508	HP:0000508	Ptosis	1	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	8	414	103850
HP:0000508	HP:0000508	Ptosis	1	ALX1 CL E G H	8092	306542				ORPHA	1	5	1494	601527
HP:0000508	HP:0000508	Ptosis	1	ALX3 CL E G H	257	391474				ORPHA	1	8	449	606014
HP:0000508	HP:0000508	Ptosis	1	ALX3 CL E G H	257	136760	Frontonasal dysplasia 1	136760	C1876203	OMIM	1	8	449	606014
HP:0000508	HP:0000508	Ptosis	1	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	2	29101	616062
HP:0000508	HP:0000508	Ptosis	1	ANO10 CL E G H	55129	284289				ORPHA	1	19	25519	613726
HP:0000508	HP:0000508	Ptosis	1	APOPT1 CL E G H	84334	436271				ORPHA	1		20492	616003
HP:0000508	HP:0000508	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		20492	616003
HP:0000508	HP:0000508	Ptosis	1	ARHGEF2 CL E G H	9181	617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	617523	C4479613	OMIM	1	2	682	607560
HP:0000508	HP:0000508	Ptosis	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	18040	614556
HP:0000508	HP:0000508	Ptosis	1	ARL3 CL E G H	403	618161	JOUBERT SYNDROME 35	618161		OMIM	1	3	694	604695
HP:0000508	HP:0000508	Ptosis	1	ARMC9 CL E G H	80210	617622	JOUBERT SYNDROME 30	617622	C4539937	OMIM	1	11	20730	617612
HP:0000508	HP:0000508	Ptosis	1	ARVCF CL E G H	421	567				ORPHA	1	2	728	602269
HP:0000508	HP:0000508	Ptosis	1	ASXL2 CL E G H	55252	617190	Shashi-Pena syndrome	617190	C4310672	OMIM	1	6	23805	612991
HP:0000508	HP:0000508	Ptosis	1	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	170	886	300032
HP:0000508	HP:0000508	Ptosis	1	ATXN3 CL E G H	4287	109150	Azorean disease	109150	C0024408	OMIM	1	3	7106	607047
HP:0000508	HP:0000508	Ptosis	1	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	62	14262	607270
HP:0000508	HP:0000508	Ptosis	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	20207	610308
HP:0000508	HP:0000508	Ptosis	1	B9D2 CL E G H	80776	614175	Meckel syndrome, type 10	614175	C3280036	OMIM	1	4	28636	611951
HP:0000508	HP:0000508	Ptosis	1	BCOR CL E G H	54880	309800	Lenz microphthalmia syndrome	309800	C0796016	OMIM	1	55	20893	300485
HP:0000508	HP:0000508	Ptosis	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	55	20893	300485
HP:0000508	HP:0000508	Ptosis	1	BCS1L CL E G H	617	256000	Leigh syndrome	256000	C0023264	OMIM	1	37	1020	603647
HP:0000508	HP:0000508	Ptosis	1	BDNF CL E G H	627	893				ORPHA	1	35	1033	113505
HP:0000508	HP:0000508	Ptosis	1	BIN1 CL E G H	274	169189				ORPHA	1	17	1052	601248
HP:0000508	HP:0000508	Ptosis	1	BIN1 CL E G H	274	255200	Autosomal recessive centronuclear myopathy	255200	C0410204	OMIM	1	17	1052	601248
HP:0000508	HP:0000508	Ptosis	1	BPTF CL E G H	2186	529962				ORPHA	1	14	3581	601819
HP:0000508	HP:0000508	Ptosis	1	BRAF CL E G H	673	500				ORPHA	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	1	BRAF CL E G H	673	648				ORPHA	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	68	1097	164757
HP:0000508	HP:0000508	Ptosis	1	BRPF1 CL E G H	7862	617333	Intellectual developmental disorder with dysmorphic facies and ptosis	617333	C4310617	OMIM	1	18	14255	602410
HP:0000508	HP:0000508	Ptosis	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11	26784	613541
HP:0000508	HP:0000508	Ptosis	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	7	1243	601269
HP:0000508	HP:0000508	Ptosis	1	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	1	43	1541	165360
HP:0000508	HP:0000508	Ptosis	1	CC2D2A CL E G H	57545	2318				ORPHA	1	96	29253	612013
HP:0000508	HP:0000508	Ptosis	1	CC2D2A CL E G H	57545	216360	COACH syndrome	216360	C1857662	OMIM	1	96	29253	612013
HP:0000508	HP:0000508	Ptosis	1	CCDC47 CL E G H	57003	618268	618268	618268		OMIM	1	5	24856	0
HP:0000508	HP:0000508	Ptosis	1	CDK13 CL E G H	8621	617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	617360	C4479246	OMIM	1	22	1733	603309
HP:0000508	HP:0000508	Ptosis	1	CEP290 CL E G H	80184	2318				ORPHA	1	310	29021	610142
HP:0000508	HP:0000508	Ptosis	1	CHAT CL E G H	1103	98914				ORPHA	1	77	1912	118490
HP:0000508	HP:0000508	Ptosis	1	CHAT CL E G H	1103	254210	Familial infantile myasthenia	254210	C0393929	OMIM	1	77	1912	118490
HP:0000508	HP:0000508	Ptosis	1	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	23	1919	603277
HP:0000508	HP:0000508	Ptosis	1	CHD7 CL E G H	55636	138				ORPHA	1	884	20626	608892
HP:0000508	HP:0000508	Ptosis	1	CHD7 CL E G H	55636	214800	CHARGE association	214800	C0265354	OMIM	1	884	20626	608892
HP:0000508	HP:0000508	Ptosis	1	CHRNA1 CL E G H	1134	98913				ORPHA	1	36	1955	100690
HP:0000508	HP:0000508	Ptosis	1	CHRNA1 CL E G H	1134	608930	Congenital myasthenic syndrome 1B, fast-channel	608930	C1837122	OMIM	1	36	1955	100690
HP:0000508	HP:0000508	Ptosis	1	CHRNA1 CL E G H	1134	601462	Myasthenic syndrome, slow-channel congenital	601462	C0751885	OMIM	1	36	1955	100690
HP:0000508	HP:0000508	Ptosis	1	CHRNB1 CL E G H	1140	98913				ORPHA	1	11	1961	100710
HP:0000508	HP:0000508	Ptosis	1	CHRNB1 CL E G H	1140	616313	Myasthenic syndrome, congenital, 2a, slow-channel	616313	C4225374	OMIM	1	11	1961	100710
HP:0000508	HP:0000508	Ptosis	1	CHRND CL E G H	1144	98913				ORPHA	1	26	1965	100720
HP:0000508	HP:0000508	Ptosis	1	CHRND CL E G H	1144	616321	Myasthenic syndrome, congenital, 3a, slow-channel	616321	C4225372	OMIM	1	26	1965	100720
HP:0000508	HP:0000508	Ptosis	1	CHRND CL E G H	1144	616322	Myasthenic syndrome, congenital, 3b, fast-channel	616322	C4225371	OMIM	1	26	1965	100720
HP:0000508	HP:0000508	Ptosis	1	CHRND CL E G H	1144	616323	Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency	616323	C4225370	OMIM	1	26	1965	100720
HP:0000508	HP:0000508	Ptosis	1	CHRNE CL E G H	1145	98913				ORPHA	1	138	1966	100725
HP:0000508	HP:0000508	Ptosis	1	CHRNE CL E G H	1145	605809	Myasthenic syndrome, congenital, 4a, slow-channel	605809	C1853949	OMIM	1	138	1966	100725
HP:0000508	HP:0000508	Ptosis	1	CHRNE CL E G H	1145	616324	Myasthenic syndrome, congenital, 4b, fast-channel	616324	C4225369	OMIM	1	138	1966	100725
HP:0000508	HP:0000508	Ptosis	1	CHRNE CL E G H	1145	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	138	1966	100725
HP:0000508	HP:0000508	Ptosis	1	CHRNG CL E G H	1146	2990				ORPHA	1	35	1967	100730
HP:0000508	HP:0000508	Ptosis	1	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	35	1967	100730
HP:0000508	HP:0000508	Ptosis	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	21	8011	602346
HP:0000508	HP:0000508	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	7	25716	615623
HP:0000508	HP:0000508	Ptosis	1	COL13A1 CL E G H	1305	98913				ORPHA	1	3	2190	120350
HP:0000508	HP:0000508	Ptosis	1	COL13A1 CL E G H	1305	98914				ORPHA	1	3	2190	120350
HP:0000508	HP:0000508	Ptosis	1	COL13A1 CL E G H	1305	616720	Myasthenic syndrome, congenital, 19	616720	C4225235	OMIM	1	3	2190	120350
HP:0000508	HP:0000508	Ptosis	1	COL25A1 CL E G H	84570	616219	Fibrosis of extraocular muscles, congenital, 5	616219	C4015552	OMIM	1	4	18603	610004
HP:0000508	HP:0000508	Ptosis	1	COLEC10 CL E G H	10584	293843				ORPHA	1	4	2220	607620
HP:0000508	HP:0000508	Ptosis	1	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	2220	607620
HP:0000508	HP:0000508	Ptosis	1	COLEC11 CL E G H	78989	293843				ORPHA	1	13	17213	612502
HP:0000508	HP:0000508	Ptosis	1	COLEC11 CL E G H	78989	265050	Carnevale syndrome	265050	C0796279	OMIM	1	13	17213	612502
HP:0000508	HP:0000508	Ptosis	1	COLQ CL E G H	8292	603034	Endplate acetylcholinesterase deficiency	603034	C1864233	OMIM	1	70	2226	603033
HP:0000508	HP:0000508	Ptosis	1	COMT CL E G H	1312	567				ORPHA	1	15	2228	116790
HP:0000508	HP:0000508	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	13	2260	602125
HP:0000508	HP:0000508	Ptosis	1	COX10 CL E G H	1352	256000	Leigh syndrome	256000	C0023264	OMIM	1	13	2260	602125
HP:0000508	HP:0000508	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	1	28216	614478
HP:0000508	HP:0000508	Ptosis	1	COX15 CL E G H	1355	255241				ORPHA	1	5	2263	603646
HP:0000508	HP:0000508	Ptosis	1	COX15 CL E G H	1355	256000	Leigh syndrome	256000	C0023264	OMIM	1	5	2263	603646
HP:0000508	HP:0000508	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	1	26970	614698
HP:0000508	HP:0000508	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	3	2280	124089
HP:0000508	HP:0000508	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	1	2294	123870
HP:0000508	HP:0000508	Ptosis	1	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	3	2309	605032
HP:0000508	HP:0000508	Ptosis	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	2348	600140
HP:0000508	HP:0000508	Ptosis	1	CSNK2A1 CL E G H	1457	617062	Okur-chung neurodevelopmental syndrome	617062	C4310739	OMIM	1	20	2457	115440
HP:0000508	HP:0000508	Ptosis	1	CSPP1 CL E G H	79848	615636	Joubert syndrome 21	615636	C3810212	OMIM	1	27	26193	611654
HP:0000508	HP:0000508	Ptosis	1	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	1	2494	602618
HP:0000508	HP:0000508	Ptosis	1	DBH CL E G H	1621	223360	Dopamine beta hydroxylase deficiency	223360	C0342687	OMIM	1	26	2689	609312
HP:0000508	HP:0000508	Ptosis	1	DCHS1 CL E G H	8642	601390	601390	601390		OMIM	1	24	13681	603057
HP:0000508	HP:0000508	Ptosis	1	DDC CL E G H	1644	608643	Deficiency of aromatic-L-amino-acid decarboxylase	608643	C1291564	OMIM	1	59	2719	107930
HP:0000508	HP:0000508	Ptosis	1	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	64	2858	601465
HP:0000508	HP:0000508	Ptosis	1	DHCR7 CL E G H	1717	818				ORPHA	1	218	2860	602858
HP:0000508	HP:0000508	Ptosis	1	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	218	2860	602858
HP:0000508	HP:0000508	Ptosis	1	DLAT CL E G H	1737	245348	Pyruvate dehydrogenase E2 deficiency	245348	C1855565	OMIM	1	5	2896	608770
HP:0000508	HP:0000508	Ptosis	1	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	8	2939	601810
HP:0000508	HP:0000508	Ptosis	1	DNM2 CL E G H	1785	169189				ORPHA	1	52	2974	602378
HP:0000508	HP:0000508	Ptosis	1	DNM2 CL E G H	1785	160150	Myopathy, centronuclear, 1	160150	C1834558	OMIM	1	52	2974	602378
HP:0000508	HP:0000508	Ptosis	1	DOK7 CL E G H	285489	98913				ORPHA	1	75	26594	610285
HP:0000508	HP:0000508	Ptosis	1	DOK7 CL E G H	285489	254300	Myasthenia, limb-girdle, familial	254300	C1850792	OMIM	1	75	26594	610285
HP:0000508	HP:0000508	Ptosis	1	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	75	26594	610285
HP:0000508	HP:0000508	Ptosis	1	DPAGT1 CL E G H	1798	614750	Congenital myasthenic syndrome 13	614750	C3553645	OMIM	1	42	2995	191350
HP:0000508	HP:0000508	Ptosis	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	30	29419	612799
HP:0000508	HP:0000508	Ptosis	1	EBP CL E G H	10682	35173				ORPHA	1	91	3133	300205
HP:0000508	HP:0000508	Ptosis	1	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	33	3147	605896
HP:0000508	HP:0000508	Ptosis	1	ECHS1 CL E G H	1892	255241				ORPHA	1	33	3151	602292
HP:0000508	HP:0000508	Ptosis	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	9	3188	605984
HP:0000508	HP:0000508	Ptosis	1	EFEMP2 CL E G H	30008	90349				ORPHA	1	17	3219	604633
HP:0000508	HP:0000508	Ptosis	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	3373	602700
HP:0000508	HP:0000508	Ptosis	1	ERF CL E G H	2077	207	Echinococcosis			ORPHA	1	19	3444	611888
HP:0000508	HP:0000508	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	3	29160	612322
HP:0000508	HP:0000508	Ptosis	1	FAT4 CL E G H	79633	615546	Van Maldergem syndrome 2	615546	C3809875	OMIM	1	37	23109	612411
HP:0000508	HP:0000508	Ptosis	1	FBLN5 CL E G H	10516	90349				ORPHA	1	23	3602	604580
HP:0000508	HP:0000508	Ptosis	1	FBN1 CL E G H	2200	2462				ORPHA	1	2721	3603	134797
HP:0000508	HP:0000508	Ptosis	1	FGD1 CL E G H	2245	915				ORPHA	1	51	3663	300546
HP:0000508	HP:0000508	Ptosis	1	FGD1 CL E G H	2245	305400	Aarskog syndrome	305400	C0175701	OMIM	1	51	3663	300546
HP:0000508	HP:0000508	Ptosis	1	FGFR1 CL E G H	2260	2117	Encephalopathy recurrent of childhood			ORPHA	1	265	3688	136350
HP:0000508	HP:0000508	Ptosis	1	FGFR2 CL E G H	2263	794				ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	1	FGFR2 CL E G H	2263	1555				ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	1	FGFR2 CL E G H	2263	1540	Corpus callosum agenesis polysyndactyly			ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	1	FGFR2 CL E G H	2263	207	Echinococcosis			ORPHA	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	1	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	159	3689	176943
HP:0000508	HP:0000508	Ptosis	1	FGFR3 CL E G H	2261	53271				ORPHA	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	1	FGFR3 CL E G H	2261	93262				ORPHA	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	1	FGFR3 CL E G H	2261	794				ORPHA	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	1	FGFR3 CL E G H	2261	602849	Muenke syndrome	602849	C1864436	OMIM	1	77	3690	134934
HP:0000508	HP:0000508	Ptosis	1	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	7	3693	605830
HP:0000508	HP:0000508	Ptosis	1	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	7	3749	193067
HP:0000508	HP:0000508	Ptosis	1	FLNA CL E G H	2316	300244	Terminal osseous dysplasia	300244	C1846129	OMIM	1	271	3754	300017
HP:0000508	HP:0000508	Ptosis	1	FOXC2 CL E G H	2303	33001				ORPHA	1	97	3801	602402
HP:0000508	HP:0000508	Ptosis	1	FOXC2 CL E G H	2303	153400	Distichiasis-lymphedema syndrome	153400	C0265345	OMIM	1	97	3801	602402
HP:0000508	HP:0000508	Ptosis	1	FOXE3 CL E G H	2301	88632				ORPHA	1	31	3808	601094
HP:0000508	HP:0000508	Ptosis	1	FOXL2 CL E G H	668	110100	Blepharophimosis, ptosis, and epicanthus inversus	110100	C0220663	OMIM	1	224	1092	605597
HP:0000508	HP:0000508	Ptosis	1	FOXRED1 CL E G H	55572	255241				ORPHA	1	8	26927	613622
HP:0000508	HP:0000508	Ptosis	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	848	4195	138079
HP:0000508	HP:0000508	Ptosis	1	GFER CL E G H	2671	330054				ORPHA	1	6	4236	600924
HP:0000508	HP:0000508	Ptosis	1	GFPT1 CL E G H	2673	610542	Congenital myasthenic syndrome 12	610542	C3552335	OMIM	1	50	4241	138292
HP:0000508	HP:0000508	Ptosis	1	GFPT1 CL E G H	2673	608931	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	608931	C1837091	OMIM	1	50	4241	138292
HP:0000508	HP:0000508	Ptosis	1	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	244	4319	165240
HP:0000508	HP:0000508	Ptosis	1	GP1BB CL E G H	2812	567				ORPHA	1	53	4440	138720
HP:0000508	HP:0000508	Ptosis	1	GPRASP2 CL E G H	114928	301018	DEAFNESS, X-LINKED 7	301018		OMIM	1	2	25169	300969
HP:0000508	HP:0000508	Ptosis	1	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	20	4593	604473
HP:0000508	HP:0000508	Ptosis	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	13315	300269
HP:0000508	HP:0000508	Ptosis	1	HIRA CL E G H	7290	567				ORPHA	1	5	4916	600237
HP:0000508	HP:0000508	Ptosis	1	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	1	5004	300193
HP:0000508	HP:0000508	Ptosis	1	HNRNPK CL E G H	3190	616580	AU-KLINE SYNDROME	616580	C4225274	OMIM	1	15	5044	600712
HP:0000508	HP:0000508	Ptosis	1	HOXB1 CL E G H	3211	614744	Hereditary congenital facial paresis 3	614744	C3553625	OMIM	1	6	5111	142968
HP:0000508	HP:0000508	Ptosis	1	HPGD CL E G H	3248	2796	Familial hypocalciuric hypercalcemia		C1809471	ORPHA	1	18	5154	601688
HP:0000508	HP:0000508	Ptosis	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	18	5154	601688
HP:0000508	HP:0000508	Ptosis	1	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	34	5173	190020
HP:0000508	HP:0000508	Ptosis	1	HSPG2 CL E G H	3339	800				ORPHA	1	67	5273	142461
HP:0000508	HP:0000508	Ptosis	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	67	5273	142461
HP:0000508	HP:0000508	Ptosis	1	IDS CL E G H	3423	309900	Mucopolysaccharidosis, MPS-II	309900	C0026705	OMIM	1	640	5389	300823
HP:0000508	HP:0000508	Ptosis	1	IER3IP1 CL E G H	51124	614231	Microcephaly, epilepsy, and diabetes syndrome	614231	C3280240	OMIM	1	4	18550	609382
HP:0000508	HP:0000508	Ptosis	1	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	13	5464	147440
HP:0000508	HP:0000508	Ptosis	1	INPP5E CL E G H	56623	213300	Joubert syndrome 1	213300	CN119531	OMIM	1	54	21474	613037
HP:0000508	HP:0000508	Ptosis	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	83	6081	176730
HP:0000508	HP:0000508	Ptosis	1	JMJD1C CL E G H	221037	567				ORPHA	1	29	12313	604503
HP:0000508	HP:0000508	Ptosis	1	KANSL1 CL E G H	284058	610443	Koolen-de Vries syndrome	610443	C1864871	OMIM	1	72	24565	612452
HP:0000508	HP:0000508	Ptosis	1	KAT6A CL E G H	7994	457193				ORPHA	1	29	13013	601408
HP:0000508	HP:0000508	Ptosis	1	KAT6A CL E G H	7994	616268	Mental retardation, autosomal dominant 32	616268	C4225396	OMIM	1	29	13013	601408
HP:0000508	HP:0000508	Ptosis	1	KAT6B CL E G H	23522	648				ORPHA	1	76	17582	605880
HP:0000508	HP:0000508	Ptosis	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	187	6257	600937
HP:0000508	HP:0000508	Ptosis	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	33	18039	605393
HP:0000508	HP:0000508	Ptosis	1	KDM6A CL E G H	7403	2322				ORPHA	1	81	12637	300128
HP:0000508	HP:0000508	Ptosis	1	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	12637	300128
HP:0000508	HP:0000508	Ptosis	1	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1	2	29068	616650
HP:0000508	HP:0000508	Ptosis	1	KIF1BP CL E G H	26128	66629				ORPHA	1	10	23419	609367
HP:0000508	HP:0000508	Ptosis	1	KIF1BP CL E G H	26128	609460	Goldberg-Shprintzen megacolon syndrome	609460	C1836123	OMIM	1	10	23419	609367
HP:0000508	HP:0000508	Ptosis	1	KIF5A CL E G H	3798	617235	Myoclonus, intractable, neonatal	617235	C4310658	OMIM	1	69	6323	602821
HP:0000508	HP:0000508	Ptosis	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	7132	159555
HP:0000508	HP:0000508	Ptosis	1	KMT2D CL E G H	8085	2322				ORPHA	1	712	7133	602113
HP:0000508	HP:0000508	Ptosis	1	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	7133	602113
HP:0000508	HP:0000508	Ptosis	1	KRAS CL E G H	3845	648				ORPHA	1	45	6407	190070
HP:0000508	HP:0000508	Ptosis	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	45	6407	190070
HP:0000508	HP:0000508	Ptosis	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	45	6407	190070
HP:0000508	HP:0000508	Ptosis	1	KRT14 CL E G H	3861	79399				ORPHA	1	118	6416	148066
HP:0000508	HP:0000508	Ptosis	1	KRT5 CL E G H	3852	79399				ORPHA	1	155	6442	148040
HP:0000508	HP:0000508	Ptosis	1	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	4	6556	604407
HP:0000508	HP:0000508	Ptosis	1	LETM1 CL E G H	3954	280	Halal Setton Wang syndrome			ORPHA	1	4	6556	604407
HP:0000508	HP:0000508	Ptosis	1	LGI4 CL E G H	163175	617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	617468	C4479539	OMIM	1	9	18712	608303
HP:0000508	HP:0000508	Ptosis	1	LIG4 CL E G H	3981	235				ORPHA	1	40	6601	601837
HP:0000508	HP:0000508	Ptosis	1	LIPT1 CL E G H	51601	255241				ORPHA	1	9	29569	610284
HP:0000508	HP:0000508	Ptosis	1	LMNA CL E G H	4000	2229				ORPHA	1	574	6636	150330
HP:0000508	HP:0000508	Ptosis	1	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	195	6654	602575
HP:0000508	HP:0000508	Ptosis	1	LONP1 CL E G H	9361	1458				ORPHA	1	19	9479	605490
HP:0000508	HP:0000508	Ptosis	1	LRP4 CL E G H	4038	98913				ORPHA	1	34	6696	604270
HP:0000508	HP:0000508	Ptosis	1	LRP4 CL E G H	4038	3152	Kuster syndrome			ORPHA	1	34	6696	604270
HP:0000508	HP:0000508	Ptosis	1	LRP4 CL E G H	4038	616304	Myasthenic syndrome, congenital, 17	616304	C4225377	OMIM	1	34	6696	604270
HP:0000508	HP:0000508	Ptosis	1	LZTR1 CL E G H	8216	648				ORPHA	1	86	6742	600574
HP:0000508	HP:0000508	Ptosis	1	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	86	6742	600574
HP:0000508	HP:0000508	Ptosis	1	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	22	6776	177075
HP:0000508	HP:0000508	Ptosis	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	23	6840	176872
HP:0000508	HP:0000508	Ptosis	1	MAP2K1