Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
expand
Abnormal eye physiology (HP:0012373)help
..Starting node
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Ptosis (HP:0000508)help
Term ID: 508
Name: Ptosis
Synonym: Blepharoptosis; Drooping upper eyelid; Eye drop; Eyelid ptosis
Definition: The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Comments:
Reference: HP:0000508
Genes and Diseases:
 
       Child Nodes:
........expandBilateral ptosis (HP:0001488) help
................... HP:0007911 Congenital bilateral ptosis
........expandHorner syndrome (HP:0002277) help
................... HP:0006837 Congenital Horner syndrome
........expandUnilateral ptosis (HP:0007687) help
........expandProgressive ptosis (HP:0007838) help
........expandCongenital ptosis (HP:0007970) help
................... HP:0007911 Congenital bilateral ptosis

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000508HP:0000508Ptosis0A2ML1 CL E G H144568648ORPHA178923336610627
HP:0000508HP:0000508Ptosis0A2ML1 CL E G H144568648ORPHA191623336610627
HP:0000508HP:0000508Ptosis0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000508HP:0000508Ptosis0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000508HP:0000508Ptosis0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0000508HP:0000508Ptosis0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0000508HP:0000508Ptosis0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1322132102630
HP:0000508HP:0000508Ptosis0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM1349132102630
HP:0000508HP:0000508Ptosis0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1322132102630
HP:0000508HP:0000508Ptosis0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA1349132102630
HP:0000508HP:0000508Ptosis0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1347144102560
HP:0000508HP:0000508Ptosis0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA1370144102560
HP:0000508HP:0000508Ptosis0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM125115766611386
HP:0000508HP:0000508Ptosis0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM126815766611386
HP:0000508HP:0000508Ptosis0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939101109ORPHA1349315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939101109ORPHA1357315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0000508HP:0000508Ptosis0AGRN CL E G H37579098913ORPHA11309329103320
HP:0000508HP:0000508Ptosis0AGRN CL E G H37579098913ORPHA11579329103320
HP:0000508HP:0000508Ptosis0AGRN CL E G H37579098914ORPHA11309329103320
HP:0000508HP:0000508Ptosis0AGRN CL E G H37579098914ORPHA11579329103320
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0000508HP:0000508Ptosis0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0000508HP:0000508Ptosis0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0000508HP:0000508Ptosis0AK9 CL E G H22126498913ORPHA14433814615358
HP:0000508HP:0000508Ptosis0AK9 CL E G H22126498913ORPHA14533814615358
HP:0000508HP:0000508Ptosis0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1380391164730
HP:0000508HP:0000508Ptosis0AKT1 CL E G H207176920Proteus syndrome176920C0085261OMIM1417391164730
HP:0000508HP:0000508Ptosis0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1353414103850
HP:0000508HP:0000508Ptosis0ALDOA CL E G H226611881HNSHA due to aldolase A deficiency611881C0272066OMIM1381414103850
HP:0000508HP:0000508Ptosis0ALX1 CL E G H8092306542ORPHA1311494601527
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257391474ORPHA142449606014
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257391474ORPHA143449606014
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM142449606014
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM143449606014
HP:0000508HP:0000508Ptosis0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118429101616062
HP:0000508HP:0000508Ptosis0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM118929101616062
HP:0000508HP:0000508Ptosis0ANO10 CL E G H55129284289ORPHA121425519613726
HP:0000508HP:0000508Ptosis0ANO10 CL E G H55129284289ORPHA122225519613726
HP:0000508HP:0000508Ptosis0APOPT1 CL E G H84334436271ORPHA112520492616003
HP:0000508HP:0000508Ptosis0APOPT1 CL E G H84334436271ORPHA112920492616003
HP:0000508HP:0000508Ptosis0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0000508HP:0000508Ptosis0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0000508HP:0000508Ptosis0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM137682607560
HP:0000508HP:0000508Ptosis0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM141682607560
HP:0000508HP:0000508Ptosis0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000508HP:0000508Ptosis0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000508HP:0000508Ptosis0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM164694604695
HP:0000508HP:0000508Ptosis0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM190694604695
HP:0000508HP:0000508Ptosis0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM125120730617612
HP:0000508HP:0000508Ptosis0ARMC9 CL E G H80210617622JOUBERT SYNDROME 30617622C4539937OMIM138020730617612
HP:0000508HP:0000508Ptosis0ARVCF CL E G H421567ORPHA1544728602269
HP:0000508HP:0000508Ptosis0ARVCF CL E G H421567ORPHA1550728602269
HP:0000508HP:0000508Ptosis0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM111123805612991
HP:0000508HP:0000508Ptosis0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM117023805612991
HP:0000508HP:0000508Ptosis0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0000508HP:0000508Ptosis0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0000508HP:0000508Ptosis0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0000508HP:0000508Ptosis0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM143914262607270
HP:0000508HP:0000508Ptosis0AUTS2 CL E G H26053615834Mental retardation, autosomal dominant 26615834C4014435OMIM145414262607270
HP:0000508HP:0000508Ptosis0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000508HP:0000508Ptosis0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000508HP:0000508Ptosis0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM15028636611951
HP:0000508HP:0000508Ptosis0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM15828636611951
HP:0000508HP:0000508Ptosis0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0000508HP:0000508Ptosis0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0000508HP:0000508Ptosis0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000508HP:0000508Ptosis0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000508HP:0000508Ptosis0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0000508HP:0000508Ptosis0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0000508HP:0000508Ptosis0BDNF CL E G H627893ORPHA1561033113505
HP:0000508HP:0000508Ptosis0BIN1 CL E G H274169189ORPHA14311052601248
HP:0000508HP:0000508Ptosis0BIN1 CL E G H274169189ORPHA14871052601248
HP:0000508HP:0000508Ptosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0000508HP:0000508Ptosis0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0000508HP:0000508Ptosis0BPTF CL E G H2186529962ORPHA11293581601819
HP:0000508HP:0000508Ptosis0BPTF CL E G H2186529962ORPHA11393581601819
HP:0000508HP:0000508Ptosis0BRAF CL E G H673500ORPHA16181097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673500ORPHA16801097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673648ORPHA16181097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673648ORPHA16801097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0000508HP:0000508Ptosis0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0000508HP:0000508Ptosis0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM116014255602410
HP:0000508HP:0000508Ptosis0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM117314255602410
HP:0000508HP:0000508Ptosis0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0000508HP:0000508Ptosis0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1431243601269
HP:0000508HP:0000508Ptosis0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1461243601269
HP:0000508HP:0000508Ptosis0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM17061541165360
HP:0000508HP:0000508Ptosis0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM18581541165360
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H575452318ORPHA188129253612013
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H575452318ORPHA1106429253612013
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0000508HP:0000508Ptosis0CCDC47 CL E G H57003618268618268618268OMIM123248560
HP:0000508HP:0000508Ptosis0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM11911733603309
HP:0000508HP:0000508Ptosis0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM12101733603309
HP:0000508HP:0000508Ptosis0CEP290 CL E G H801842318ORPHA1153529021610142
HP:0000508HP:0000508Ptosis0CEP290 CL E G H801842318ORPHA1190229021610142
HP:0000508HP:0000508Ptosis0CHAT CL E G H110398914ORPHA15111912118490
HP:0000508HP:0000508Ptosis0CHAT CL E G H110398914ORPHA16521912118490
HP:0000508HP:0000508Ptosis0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM15111912118490
HP:0000508HP:0000508Ptosis0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM16521912118490
HP:0000508HP:0000508Ptosis0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM11901919603277
HP:0000508HP:0000508Ptosis0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM12171919603277
HP:0000508HP:0000508Ptosis0CHD7 CL E G H55636138ORPHA1175220626608892
HP:0000508HP:0000508Ptosis0CHD7 CL E G H55636138ORPHA1198020626608892
HP:0000508HP:0000508Ptosis0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0000508HP:0000508Ptosis0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H113498913ORPHA13161955100690
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H113498913ORPHA13571955100690
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13161955100690
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM13571955100690
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13161955100690
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H1134601462Myasthenic syndrome, slow-channel congenital601462C0751885OMIM13571955100690
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H114098913ORPHA12841961100710
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H114098913ORPHA13301961100710
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM12841961100710
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H1140616313Myasthenic syndrome, congenital, 2a, slow-channel616313C4225374OMIM13301961100710
HP:0000508HP:0000508Ptosis0CHRND CL E G H114498913ORPHA13311965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H114498913ORPHA13731965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM13311965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616322Myasthenic syndrome, congenital, 3b, fast-channel616322C4225371OMIM13731965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM13311965100720
HP:0000508HP:0000508Ptosis0CHRND CL E G H1144616323Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency616323C4225370OMIM13731965100720
HP:0000508HP:0000508Ptosis0CHRNE CL E G H114598913ORPHA15991966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H114598913ORPHA16731966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM15991966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145605809Myasthenic syndrome, congenital, 4a, slow-channel605809C1853949OMIM16731966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM15991966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145616324Myasthenic syndrome, congenital, 4b, fast-channel616324C4225369OMIM16731966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM15991966100725
HP:0000508HP:0000508Ptosis0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM16731966100725
HP:0000508HP:0000508Ptosis0CHRNG CL E G H11462990ORPHA12061967100730
HP:0000508HP:0000508Ptosis0CHRNG CL E G H11462990ORPHA12121967100730
HP:0000508HP:0000508Ptosis0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12061967100730
HP:0000508HP:0000508Ptosis0CHRNG CL E G H1146265000Multiple pterygium syndrome Escobar type265000C0265261OMIM12121967100730
HP:0000508HP:0000508Ptosis0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0000508HP:0000508Ptosis0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0000508HP:0000508Ptosis0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0000508HP:0000508Ptosis0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H130598913ORPHA11792190120350
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H130598913ORPHA12942190120350
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H130598914ORPHA11792190120350
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H130598914ORPHA12942190120350
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM11792190120350
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H1305616720Myasthenic syndrome, congenital, 19616720C4225235OMIM12942190120350
HP:0000508HP:0000508Ptosis0COL25A1 CL E G H84570616219Fibrosis of extraocular muscles, congenital, 5616219C4015552OMIM14318603610004
HP:0000508HP:0000508Ptosis0COL25A1 CL E G H84570616219Fibrosis of extraocular muscles, congenital, 5616219C4015552OMIM14618603610004
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H10584293843ORPHA1542220607620
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H10584293843ORPHA1552220607620
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1542220607620
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM1552220607620
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H78989293843ORPHA16217213612502
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H78989293843ORPHA16517213612502
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM16217213612502
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H78989265050Carnevale syndrome265050C0796279OMIM16517213612502
HP:0000508HP:0000508Ptosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM13642226603033
HP:0000508HP:0000508Ptosis0COLQ CL E G H8292603034Endplate acetylcholinesterase deficiency603034C1864233OMIM14182226603033
HP:0000508HP:0000508Ptosis0COMT CL E G H1312567ORPHA15792228116790
HP:0000508HP:0000508Ptosis0COMT CL E G H1312567ORPHA15872228116790
HP:0000508HP:0000508Ptosis0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0000508HP:0000508Ptosis0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0000508HP:0000508Ptosis0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0000508HP:0000508Ptosis0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0000508HP:0000508Ptosis0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
HP:0000508HP:0000508Ptosis0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0000508HP:0000508Ptosis0COX15 CL E G H1355255241ORPHA12162263603646
HP:0000508HP:0000508Ptosis0COX15 CL E G H1355255241ORPHA12332263603646
HP:0000508HP:0000508Ptosis0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0000508HP:0000508Ptosis0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0000508HP:0000508Ptosis0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0000508HP:0000508Ptosis0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0000508HP:0000508Ptosis0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
HP:0000508HP:0000508Ptosis0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0000508HP:0000508Ptosis0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1182294123870
HP:0000508HP:0000508Ptosis0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11512309605032
HP:0000508HP:0000508Ptosis0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM11632309605032
HP:0000508HP:0000508Ptosis0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0000508HP:0000508Ptosis0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0000508HP:0000508Ptosis0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11772457115440
HP:0000508HP:0000508Ptosis0CSNK2A1 CL E G H1457617062Okur-chung neurodevelopmental syndrome617062C4310739OMIM11822457115440
HP:0000508HP:0000508Ptosis0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM147626193611654
HP:0000508HP:0000508Ptosis0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM168726193611654
HP:0000508HP:0000508Ptosis0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11742494602618
HP:0000508HP:0000508Ptosis0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM11872494602618
HP:0000508HP:0000508Ptosis0DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM12682689609312
HP:0000508HP:0000508Ptosis0DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM13142689609312
HP:0000508HP:0000508Ptosis0DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0000508HP:0000508Ptosis0DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0000508HP:0000508Ptosis0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0000508HP:0000508Ptosis0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0000508HP:0000508Ptosis0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0000508HP:0000508Ptosis0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H1717818ORPHA15112860602858
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H1717818ORPHA15462860602858
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15112860602858
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM15462860602858
HP:0000508HP:0000508Ptosis0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0000508HP:0000508Ptosis0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0000508HP:0000508Ptosis0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0000508HP:0000508Ptosis0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0000508HP:0000508Ptosis0DNM2 CL E G H1785169189ORPHA16752974602378
HP:0000508HP:0000508Ptosis0DNM2 CL E G H1785169189ORPHA17662974602378
HP:0000508HP:0000508Ptosis0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0000508HP:0000508Ptosis0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0000508HP:0000508Ptosis0DOK7 CL E G H28548998913ORPHA164526594610285
HP:0000508HP:0000508Ptosis0DOK7 CL E G H28548998913ORPHA175026594610285
HP:0000508HP:0000508Ptosis0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM164526594610285
HP:0000508HP:0000508Ptosis0DOK7 CL E G H285489254300Myasthenia, limb-girdle, familial254300C1850792OMIM175026594610285
HP:0000508HP:0000508Ptosis0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM164526594610285
HP:0000508HP:0000508Ptosis0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM175026594610285
HP:0000508HP:0000508Ptosis0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0000508HP:0000508Ptosis0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0000508HP:0000508Ptosis0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM120729419612799
HP:0000508HP:0000508Ptosis0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM123529419612799
HP:0000508HP:0000508Ptosis0EBP CL E G H1068235173ORPHA12653133300205
HP:0000508HP:0000508Ptosis0EBP CL E G H1068235173ORPHA12863133300205
HP:0000508HP:0000508Ptosis0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM11503147605896
HP:0000508HP:0000508Ptosis0ECEL1 CL E G H9427615065Distal arthrogryposis type 5D615065C3554415OMIM11533147605896
HP:0000508HP:0000508Ptosis0ECHS1 CL E G H1892255241ORPHA12413151602292
HP:0000508HP:0000508Ptosis0ECHS1 CL E G H1892255241ORPHA13013151602292
HP:0000508HP:0000508Ptosis0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0000508HP:0000508Ptosis0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0000508HP:0000508Ptosis0EFEMP2 CL E G H3000890349ORPHA12533219604633
HP:0000508HP:0000508Ptosis0EFEMP2 CL E G H3000890349ORPHA12723219604633
HP:0000508HP:0000508Ptosis0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0000508HP:0000508Ptosis0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0000508HP:0000508Ptosis0ERF CL E G H2077207EchinococcosisORPHA11113444611888
HP:0000508HP:0000508Ptosis0ERF CL E G H2077207EchinococcosisORPHA11203444611888
HP:0000508HP:0000508Ptosis0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM127029160612322
HP:0000508HP:0000508Ptosis0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM129429160612322
HP:0000508HP:0000508Ptosis0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM151923109612411
HP:0000508HP:0000508Ptosis0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM198923109612411
HP:0000508HP:0000508Ptosis0FBLN5 CL E G H1051690349ORPHA12003602604580
HP:0000508HP:0000508Ptosis0FBLN5 CL E G H1051690349ORPHA12583602604580
HP:0000508HP:0000508Ptosis0FBN1 CL E G H22002462ORPHA149683603134797
HP:0000508HP:0000508Ptosis0FBN1 CL E G H22002462ORPHA154573603134797
HP:0000508HP:0000508Ptosis0FGD1 CL E G H2245915ORPHA13123663300546
HP:0000508HP:0000508Ptosis0FGD1 CL E G H2245915ORPHA13193663300546
HP:0000508HP:0000508Ptosis0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM13123663300546
HP:0000508HP:0000508Ptosis0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM13193663300546
HP:0000508HP:0000508Ptosis0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA15303688136350
HP:0000508HP:0000508Ptosis0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA15973688136350
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263794ORPHA14663689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263794ORPHA15013689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22631555ORPHA14663689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22631555ORPHA15013689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22631540Corpus callosum agenesis polysyndactylyORPHA14663689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22631540Corpus callosum agenesis polysyndactylyORPHA15013689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263207EchinococcosisORPHA14663689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263207EchinococcosisORPHA15013689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM14663689176943
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM15013689176943
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H2261794ORPHA15413690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H2261794ORPHA15423690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H226153271ORPHA15413690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H226153271ORPHA15423690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H226193262ORPHA15413690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H226193262ORPHA15423690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM15413690134934
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H2261602849Muenke syndrome602849C1864436OMIM15423690134934
HP:0000508HP:0000508Ptosis0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12143693605830
HP:0000508HP:0000508Ptosis0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM12673693605830
HP:0000508HP:0000508Ptosis0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11723749193067
HP:0000508HP:0000508Ptosis0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11743749193067
HP:0000508HP:0000508Ptosis0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM118933754300017
HP:0000508HP:0000508Ptosis0FLNA CL E G H2316300244Terminal osseous dysplasia300244C1846129OMIM121303754300017
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H230333001ORPHA11153801602402
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H230333001ORPHA11173801602402
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11153801602402
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11173801602402
HP:0000508HP:0000508Ptosis0FOXE3 CL E G H230188632ORPHA11523808601094
HP:0000508HP:0000508Ptosis0FOXE3 CL E G H230188632ORPHA11763808601094
HP:0000508HP:0000508Ptosis0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11731092605597
HP:0000508HP:0000508Ptosis0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11751092605597
HP:0000508HP:0000508Ptosis0FOXRED1 CL E G H55572255241ORPHA121026927613622
HP:0000508HP:0000508Ptosis0FOXRED1 CL E G H55572255241ORPHA123126927613622
HP:0000508HP:0000508Ptosis0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000508HP:0000508Ptosis0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000508HP:0000508Ptosis0GFER CL E G H2671330054ORPHA11104236600924
HP:0000508HP:0000508Ptosis0GFER CL E G H2671330054ORPHA11224236600924
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM13744241138292
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H2673610542Congenital myasthenic syndrome 12610542C3552335OMIM14064241138292
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM13744241138292
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM14064241138292
HP:0000508HP:0000508Ptosis0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA16664319165240
HP:0000508HP:0000508Ptosis0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA16814319165240
HP:0000508HP:0000508Ptosis0GP1BB CL E G H2812567ORPHA14304440138720
HP:0000508HP:0000508Ptosis0GP1BB CL E G H2812567ORPHA14384440138720
HP:0000508HP:0000508Ptosis0GPRASP2 CL E G H114928301018DEAFNESS, X-LINKED 7301018OMIM117625169300969
HP:0000508HP:0000508Ptosis0GPRASP2 CL E G H114928301018DEAFNESS, X-LINKED 7301018OMIM117925169300969
HP:0000508HP:0000508Ptosis0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11864593604473
HP:0000508HP:0000508Ptosis0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11934593604473
HP:0000508HP:0000508Ptosis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000508HP:0000508Ptosis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000508HP:0000508Ptosis0HIRA CL E G H7290567ORPHA14374916600237
HP:0000508HP:0000508Ptosis0HIRA CL E G H7290567ORPHA14424916600237
HP:0000508HP:0000508Ptosis0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM11895004300193
HP:0000508HP:0000508Ptosis0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM11925004300193
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11085044600712
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM11115044600712
HP:0000508HP:0000508Ptosis0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM1315111142968
HP:0000508HP:0000508Ptosis0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA11655154601688
HP:0000508HP:0000508Ptosis0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA11835154601688
HP:0000508HP:0000508Ptosis0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11655154601688
HP:0000508HP:0000508Ptosis0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11835154601688
HP:0000508HP:0000508Ptosis0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14115173190020
HP:0000508HP:0000508Ptosis0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM14675173190020
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0000508HP:0000508Ptosis0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16455389300823
HP:0000508HP:0000508Ptosis0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16825389300823
HP:0000508HP:0000508Ptosis0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM110918550609382
HP:0000508HP:0000508Ptosis0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM111818550609382
HP:0000508HP:0000508Ptosis0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11705464147440
HP:0000508HP:0000508Ptosis0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11785464147440
HP:0000508HP:0000508Ptosis0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0000508HP:0000508Ptosis0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0000508HP:0000508Ptosis0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000508HP:0000508Ptosis0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000508HP:0000508Ptosis0JMJD1C CL E G H221037567ORPHA181012313604503
HP:0000508HP:0000508Ptosis0JMJD1C CL E G H221037567ORPHA189912313604503
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0000508HP:0000508Ptosis0KAT6A CL E G H7994457193ORPHA140013013601408
HP:0000508HP:0000508Ptosis0KAT6A CL E G H7994457193ORPHA142713013601408
HP:0000508HP:0000508Ptosis0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM140013013601408
HP:0000508HP:0000508Ptosis0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM142713013601408
HP:0000508HP:0000508Ptosis0KAT6B CL E G H23522648ORPHA139617582605880
HP:0000508HP:0000508Ptosis0KAT6B CL E G H23522648ORPHA148717582605880
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000508HP:0000508Ptosis0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110018039605393
HP:0000508HP:0000508Ptosis0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110718039605393
HP:0000508HP:0000508Ptosis0KDM6A CL E G H74032322ORPHA150212637300128
HP:0000508HP:0000508Ptosis0KDM6A CL E G H74032322ORPHA156212637300128
HP:0000508HP:0000508Ptosis0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM150212637300128
HP:0000508HP:0000508Ptosis0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM156212637300128
HP:0000508HP:0000508Ptosis0KIAA0556 CL E G H23247616784Joubert syndrome 26616784C4084843OMIM129068616650
HP:0000508HP:0000508Ptosis0KIF1BP CL E G H2612866629ORPHA123419609367
HP:0000508HP:0000508Ptosis0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM123419609367
HP:0000508HP:0000508Ptosis0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0000508HP:0000508Ptosis0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0000508HP:0000508Ptosis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000508HP:0000508Ptosis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000508HP:0000508Ptosis0KMT2D CL E G H80852322ORPHA118287133602113
HP:0000508HP:0000508Ptosis0KMT2D CL E G H80852322ORPHA123717133602113
HP:0000508HP:0000508Ptosis0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM118287133602113
HP:0000508HP:0000508Ptosis0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM123717133602113
HP:0000508HP:0000508Ptosis0KRAS CL E G H3845648ORPHA13316407190070
HP:0000508HP:0000508Ptosis0KRAS CL E G H3845648ORPHA13416407190070
HP:0000508HP:0000508Ptosis0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM13316407190070
HP:0000508HP:0000508Ptosis0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM13416407190070
HP:0000508HP:0000508Ptosis0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0000508HP:0000508Ptosis0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0000508HP:0000508Ptosis0KRT14 CL E G H386179399ORPHA11486416148066
HP:0000508HP:0000508Ptosis0KRT14 CL E G H386179399ORPHA11556416148066
HP:0000508HP:0000508Ptosis0KRT5 CL E G H385279399ORPHA12416442148040
HP:0000508HP:0000508Ptosis0KRT5 CL E G H385279399ORPHA12526442148040
HP:0000508HP:0000508Ptosis0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM11886556604407
HP:0000508HP:0000508Ptosis0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM12286556604407
HP:0000508HP:0000508Ptosis0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA11886556604407
HP:0000508HP:0000508Ptosis0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12286556604407
HP:0000508HP:0000508Ptosis0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17418712608303
HP:0000508HP:0000508Ptosis0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000508HP:0000508Ptosis0LIG4 CL E G H3981235ORPHA13886601601837
HP:0000508HP:0000508Ptosis0LIG4 CL E G H3981235ORPHA14676601601837
HP:0000508HP:0000508Ptosis0LIPT1 CL E G H51601255241ORPHA17329569610284
HP:0000508HP:0000508Ptosis0LIPT1 CL E G H51601255241ORPHA19029569610284
HP:0000508HP:0000508Ptosis0LMNA CL E G H40002229ORPHA113476636150330
HP:0000508HP:0000508Ptosis0LMNA CL E G H40002229ORPHA114866636150330
HP:0000508HP:0000508Ptosis0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM13746654602575
HP:0000508HP:0000508Ptosis0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM14306654602575
HP:0000508HP:0000508Ptosis0LONP1 CL E G H93611458ORPHA12219479605490
HP:0000508HP:0000508Ptosis0LONP1 CL E G H93611458ORPHA13579479605490
HP:0000508HP:0000508Ptosis0LRP4 CL E G H403898913ORPHA15346696604270
HP:0000508HP:0000508Ptosis0LRP4 CL E G H403898913ORPHA16766696604270
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40383152Kuster syndromeORPHA15346696604270
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40383152Kuster syndromeORPHA16766696604270
HP:0000508HP:0000508Ptosis0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM15346696604270
HP:0000508HP:0000508Ptosis0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM16766696604270
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H8216648ORPHA19566742600574
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H8216648ORPHA112786742600574
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM19566742600574
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H8216616564Noonan syndrome 10616564C4225280OMIM112786742600574
HP:0000508HP:0000508Ptosis0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM12476776177075
HP:0000508HP:0000508Ptosis0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM12786776177075
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13066840176872
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13366840176872
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H5605638ORPHA14526842601263
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H5605638ORPHA15156842601263
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA14526842601263
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15156842601263
HP:0000508HP:0000508Ptosis0MARK3 CL E G H4140618283618283618283OMIM1566897602678
HP:0000508HP:0000508Ptosis0MARK3 CL E G H4140618283618283618283OMIM1606897602678
HP:0000508HP:0000508Ptosis0MASP1 CL E G H5648293843ORPHA12146901600521
HP:0000508HP:0000508Ptosis0MASP1 CL E G H5648293843ORPHA12206901600521
HP:0000508HP:0000508Ptosis0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12146901600521
HP:0000508HP:0000508Ptosis0MASP1 CL E G H5648257920Michels syndrome257920C0796059OMIM12206901600521
HP:0000508HP:0000508Ptosis0MCM5 CL E G H4174617564MEIER-GORLIN SYNDROME 8617564C4479655OMIM1346948602696
HP:0000508HP:0000508Ptosis0MCM5 CL E G H4174617564MEIER-GORLIN SYNDROME 8617564C4479655OMIM1996948602696
HP:0000508HP:0000508Ptosis0MECP2 CL E G H42041762ORPHA116036990300005
HP:0000508HP:0000508Ptosis0MECP2 CL E G H42041762ORPHA116846990300005
HP:0000508HP:0000508Ptosis0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM194111957300188
HP:0000508HP:0000508Ptosis0MED12 CL E G H9968300895Ohdo syndrome, X-linked300895C3698541OMIM1103411957300188
HP:0000508HP:0000508Ptosis0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM139728845610197
HP:0000508HP:0000508Ptosis0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM146428845610197
HP:0000508HP:0000508Ptosis0MGME1 CL E G H92667352447ORPHA16916205615076
HP:0000508HP:0000508Ptosis0MGME1 CL E G H92667352447ORPHA17516205615076
HP:0000508HP:0000508Ptosis0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM16916205615076
HP:0000508HP:0000508Ptosis0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17516205615076
HP:0000508HP:0000508Ptosis0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16316618611994
HP:0000508HP:0000508Ptosis0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16916618611994
HP:0000508HP:0000508Ptosis0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0000508HP:0000508Ptosis0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0000508HP:0000508Ptosis0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0000508HP:0000508Ptosis0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0000508HP:0000508Ptosis0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0000508HP:0000508Ptosis0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0000508HP:0000508Ptosis0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0000508HP:0000508Ptosis0MT-TF CL E G H4558550ORPHA17481590070
HP:0000508HP:0000508Ptosis0MT-TH CL E G H4564550ORPHA17487590040
HP:0000508HP:0000508Ptosis0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0000508HP:0000508Ptosis0MT-TL1 CL E G H4567663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17490590050
HP:0000508HP:0000508Ptosis0MT-TL2 CL E G H4568663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17491590055
HP:0000508HP:0000508Ptosis0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0000508HP:0000508Ptosis0MT-TN CL E G H4570663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17493590010
HP:0000508HP:0000508Ptosis0MT-TQ CL E G H4572550ORPHA17495590030
HP:0000508HP:0000508Ptosis0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0000508HP:0000508Ptosis0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0000508HP:0000508Ptosis0MT-TS1 CL E G H4574663Maternally-inherited progressive external ophthalmoplegiaCN924917ORPHA17497590080
HP:0000508HP:0000508Ptosis0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0000508HP:0000508Ptosis0MT-TW CL E G H4578550ORPHA17501590095
HP:0000508HP:0000508Ptosis0MTFMT CL E G H123263255241ORPHA113229666611766
HP:0000508HP:0000508Ptosis0MTFMT CL E G H123263255241ORPHA116229666611766
HP:0000508HP:0000508Ptosis0MTM1 CL E G H4534596Albright like syndromeORPHA16107448300415
HP:0000508HP:0000508Ptosis0MTM1 CL E G H4534596Albright like syndromeORPHA16487448300415
HP:0000508HP:0000508Ptosis0MTMR14 CL E G H64419169189ORPHA17526190611089
HP:0000508HP:0000508Ptosis0MTMR14 CL E G H64419169189ORPHA111426190611089
HP:0000508HP:0000508Ptosis0MUSK CL E G H459398913ORPHA13837525601296
HP:0000508HP:0000508Ptosis0MUSK CL E G H459398913ORPHA14507525601296
HP:0000508HP:0000508Ptosis0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM13837525601296
HP:0000508HP:0000508Ptosis0MUSK CL E G H4593616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency616325C4225368OMIM14507525601296
HP:0000508HP:0000508Ptosis0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM13837525601296
HP:0000508HP:0000508Ptosis0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM14507525601296
HP:0000508HP:0000508Ptosis0MYF5 CL E G H4617618155OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES618155OMIM1277565159990
HP:0000508HP:0000508Ptosis0MYF6 CL E G H4618169189ORPHA1747566159991
HP:0000508HP:0000508Ptosis0MYF6 CL E G H4618169189ORPHA1797566159991
HP:0000508HP:0000508Ptosis0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM14447573160720
HP:0000508HP:0000508Ptosis0MYH3 CL E G H4621178110Distal arthrogryposis type 8178110C1867440OMIM15337573160720
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA14447573160720
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46212053Ectodermal dysplasia neurosensory deafnessORPHA15337573160720
HP:0000508HP:0000508Ptosis0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM14447573160720
HP:0000508HP:0000508Ptosis0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM15337573160720
HP:0000508HP:0000508Ptosis0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM129607577160760
HP:0000508HP:0000508Ptosis0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM132927577160760
HP:0000508HP:0000508Ptosis0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM12807578160741
HP:0000508HP:0000508Ptosis0MYH8 CL E G H4626158300Hecht syndrome158300C0265226OMIM12817578160741
HP:0000508HP:0000508Ptosis0MYMK CL E G H3898271358ORPHA17733778615345
HP:0000508HP:0000508Ptosis0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM17733778615345
HP:0000508HP:0000508Ptosis0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM133118150607295
HP:0000508HP:0000508Ptosis0MYO18B CL E G H84700616549Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism616549C4225285OMIM184118150607295
HP:0000508HP:0000508Ptosis0MYO9A CL E G H464998914ORPHA11647608604875
HP:0000508HP:0000508Ptosis0MYO9A CL E G H464998914ORPHA11687608604875
HP:0000508HP:0000508Ptosis0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM11647608604875
HP:0000508HP:0000508Ptosis0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM11687608604875
HP:0000508HP:0000508Ptosis0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0000508HP:0000508Ptosis0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0000508HP:0000508Ptosis0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA157319082611549
HP:0000508HP:0000508Ptosis0NALCN CL E G H2592322053Ectodermal dysplasia neurosensory deafnessORPHA159019082611549
HP:0000508HP:0000508Ptosis0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM116326274612803
HP:0000508HP:0000508Ptosis0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM118126274612803
HP:0000508HP:0000508Ptosis0NDUFA10 CL E G H4705255241ORPHA13367684603835
HP:0000508HP:0000508Ptosis0NDUFA10 CL E G H4705255241ORPHA13597684603835
HP:0000508HP:0000508Ptosis0NDUFA12 CL E G H55967255241ORPHA15323987614530
HP:0000508HP:0000508Ptosis0NDUFA12 CL E G H55967255241ORPHA16423987614530
HP:0000508HP:0000508Ptosis0NDUFA13 CL E G H51079255241ORPHA11817194609435
HP:0000508HP:0000508Ptosis0NDUFA13 CL E G H51079255241ORPHA11917194609435
HP:0000508HP:0000508Ptosis0NDUFA2 CL E G H4695255241ORPHA1717685602137
HP:0000508HP:0000508Ptosis0NDUFA2 CL E G H4695255241ORPHA1747685602137
HP:0000508HP:0000508Ptosis0NDUFA4 CL E G H4697255241ORPHA1707687603833
HP:0000508HP:0000508Ptosis0NDUFA4 CL E G H4697255241ORPHA1737687603833
HP:0000508HP:0000508Ptosis0NDUFA9 CL E G H4704255241ORPHA11497693603834
HP:0000508HP:0000508Ptosis0NDUFA9 CL E G H4704255241ORPHA11727693603834
HP:0000508HP:0000508Ptosis0NDUFAF2 CL E G H91942255241ORPHA110228086609653
HP:0000508HP:0000508Ptosis0NDUFAF2 CL E G H91942255241ORPHA110928086609653
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H79133255241ORPHA122115899612360
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H79133255241ORPHA122815899612360
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM122115899612360
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H79133618238MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16618238OMIM122815899612360
HP:0000508HP:0000508Ptosis0NDUFAF6 CL E G H137682255241ORPHA116628625612392
HP:0000508HP:0000508Ptosis0NDUFAF6 CL E G H137682255241ORPHA118528625612392
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H4719255241ORPHA12637707157655
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H4719255241ORPHA13017707157655
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H4720255241ORPHA11397708602985
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H4720255241ORPHA11607708602985
HP:0000508HP:0000508Ptosis0NDUFS3 CL E G H4722255241ORPHA1777710603846
HP:0000508HP:0000508Ptosis0NDUFS3 CL E G H4722255241ORPHA1917710603846
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H4724255241ORPHA1977711602694
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H4724255241ORPHA11017711602694
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0000508HP:0000508Ptosis0NDUFS7 CL E G H374291255241ORPHA11307714601825
HP:0000508HP:0000508Ptosis0NDUFS7 CL E G H374291255241ORPHA11427714601825
HP:0000508HP:0000508Ptosis0NDUFS8 CL E G H4728255241ORPHA1827715602141
HP:0000508HP:0000508Ptosis0NDUFS8 CL E G H4728255241ORPHA1887715602141
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H4723255241ORPHA11747716161015
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H4723255241ORPHA12007716161015
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM11747716161015
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM12007716161015
HP:0000508HP:0000508Ptosis0NDUFV2 CL E G H4729255241ORPHA11637717600532
HP:0000508HP:0000508Ptosis0NDUFV2 CL E G H4729255241ORPHA11807717600532
HP:0000508HP:0000508Ptosis0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117112768606026
HP:0000508HP:0000508Ptosis0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117512768606026
HP:0000508HP:0000508Ptosis0NF1 CL E G H4763638ORPHA180607765613113
HP:0000508HP:0000508Ptosis0NF1 CL E G H4763638ORPHA191517765613113
HP:0000508HP:0000508Ptosis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000508HP:0000508Ptosis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000508HP:0000508Ptosis0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0000508HP:0000508Ptosis0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H48542789ORPHA18607883600276
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H48542789ORPHA19467883600276
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM18607883600276
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM19467883600276
HP:0000508HP:0000508Ptosis0NRAS CL E G H4893648ORPHA12127989164790
HP:0000508HP:0000508Ptosis0NRAS CL E G H4893648ORPHA12267989164790
HP:0000508HP:0000508Ptosis0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM124912766602952
HP:0000508HP:0000508Ptosis0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM126212766602952
HP:0000508HP:0000508Ptosis0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA124912766602952
HP:0000508HP:0000508Ptosis0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA126212766602952
HP:0000508HP:0000508Ptosis0NSUN2 CL E G H54888235ORPHA138625994610916
HP:0000508HP:0000508Ptosis0NSUN2 CL E G H54888235ORPHA140125994610916
HP:0000508HP:0000508Ptosis0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM15988140605290
HP:0000508HP:0000508Ptosis0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM17398140605290
HP:0000508HP:0000508Ptosis0PABPN1 CL E G H8106270ORPHA1618565602279
HP:0000508HP:0000508Ptosis0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM121930032607492
HP:0000508HP:0000508Ptosis0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM124530032607492
HP:0000508HP:0000508Ptosis0PAX6 CL E G H5080893ORPHA15778620607108
HP:0000508HP:0000508Ptosis0PAX6 CL E G H5080893ORPHA16328620607108
HP:0000508HP:0000508Ptosis0PDGFRB CL E G H5159616592Kosaki overgrowth syndrome616592C4225270OMIM12838804173410
HP:0000508HP:0000508Ptosis0PDGFRB CL E G H5159616592Kosaki overgrowth syndrome616592C4225270OMIM13048804173410
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H5160255241ORPHA15308806300502
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H5160255241ORPHA15388806300502
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15308806300502
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM15388806300502
HP:0000508HP:0000508Ptosis0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000508HP:0000508Ptosis0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000508HP:0000508Ptosis0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM11888840613230
HP:0000508HP:0000508Ptosis0PEPD CL E G H5184170100Prolidase deficiency170100C0268532OMIM12918840613230
HP:0000508HP:0000508Ptosis0PET100 CL E G H100131801255241ORPHA14340038614770
HP:0000508HP:0000508Ptosis0PET100 CL E G H100131801255241ORPHA15140038614770
HP:0000508HP:0000508Ptosis0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM14340038614770
HP:0000508HP:0000508Ptosis0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15140038614770
HP:0000508HP:0000508Ptosis0PEX1 CL E G H518944MYBPC1-related conditionORPHA17938850602136
HP:0000508HP:0000508Ptosis0PEX1 CL E G H518944MYBPC1-related conditionORPHA19518850602136
HP:0000508HP:0000508Ptosis0PEX10 CL E G H519244MYBPC1-related conditionORPHA14808851602859
HP:0000508HP:0000508Ptosis0PEX10 CL E G H519244MYBPC1-related conditionORPHA15788851602859
HP:0000508HP:0000508Ptosis0PEX11B CL E G H879944MYBPC1-related conditionORPHA12848853603867
HP:0000508HP:0000508Ptosis0PEX11B CL E G H879944MYBPC1-related conditionORPHA13328853603867
HP:0000508HP:0000508Ptosis0PEX12 CL E G H519344MYBPC1-related conditionORPHA12458854601758
HP:0000508HP:0000508Ptosis0PEX12 CL E G H519344MYBPC1-related conditionORPHA13208854601758
HP:0000508HP:0000508Ptosis0PEX13 CL E G H519444MYBPC1-related conditionORPHA12348855601789
HP:0000508HP:0000508Ptosis0PEX13 CL E G H519444MYBPC1-related conditionORPHA13428855601789
HP:0000508HP:0000508Ptosis0PEX14 CL E G H519544MYBPC1-related conditionORPHA12348856601791
HP:0000508HP:0000508Ptosis0PEX14 CL E G H519544MYBPC1-related conditionORPHA13118856601791
HP:0000508HP:0000508Ptosis0PEX16 CL E G H940944MYBPC1-related conditionORPHA12038857603360
HP:0000508HP:0000508Ptosis0PEX16 CL E G H940944MYBPC1-related conditionORPHA12828857603360
HP:0000508HP:0000508Ptosis0PEX19 CL E G H582444MYBPC1-related conditionORPHA11819713600279
HP:0000508HP:0000508Ptosis0PEX19 CL E G H582444MYBPC1-related conditionORPHA12499713600279
HP:0000508HP:0000508Ptosis0PEX2 CL E G H582844MYBPC1-related conditionORPHA12549717170993
HP:0000508HP:0000508Ptosis0PEX2 CL E G H582844MYBPC1-related conditionORPHA13199717170993
HP:0000508HP:0000508Ptosis0PEX26 CL E G H5567044MYBPC1-related conditionORPHA131522965608666
HP:0000508HP:0000508Ptosis0PEX26 CL E G H5567044MYBPC1-related conditionORPHA139222965608666
HP:0000508HP:0000508Ptosis0PEX3 CL E G H850444MYBPC1-related conditionORPHA11588858603164
HP:0000508HP:0000508Ptosis0PEX3 CL E G H850444MYBPC1-related conditionORPHA12198858603164
HP:0000508HP:0000508Ptosis0PEX5 CL E G H583044MYBPC1-related conditionORPHA14069719600414
HP:0000508HP:0000508Ptosis0PEX5 CL E G H583044MYBPC1-related conditionORPHA15639719600414
HP:0000508HP:0000508Ptosis0PEX6 CL E G H519044MYBPC1-related conditionORPHA16458859601498
HP:0000508HP:0000508Ptosis0PEX6 CL E G H519044MYBPC1-related conditionORPHA18558859601498
HP:0000508HP:0000508Ptosis0PEX7 CL E G H5191773ORPHA13108860601757
HP:0000508HP:0000508Ptosis0PEX7 CL E G H5191773ORPHA13638860601757
HP:0000508HP:0000508Ptosis0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13108860601757
HP:0000508HP:0000508Ptosis0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13638860601757
HP:0000508HP:0000508Ptosis0PHF6 CL E G H84295127ORPHA126918145300414
HP:0000508HP:0000508Ptosis0PHF6 CL E G H84295127ORPHA127418145300414
HP:0000508HP:0000508Ptosis0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM126918145300414
HP:0000508HP:0000508Ptosis0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM127418145300414
HP:0000508HP:0000508Ptosis0PHYH CL E G H5264773ORPHA12018940602026
HP:0000508HP:0000508Ptosis0PHYH CL E G H5264773ORPHA12608940602026
HP:0000508HP:0000508Ptosis0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12018940602026
HP:0000508HP:0000508Ptosis0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12608940602026
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H638952461ORPHA167226270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H638952461ORPHA170926270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA167226270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H638951154Cataract mental retardation hypogonadismORPHA170926270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM167226270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895114300Gordon's syndrome114300C0220666OMIM170926270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM167226270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM170926270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM167226270613629
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM170926270613629
HP:0000508HP:0000508Ptosis0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA11108966605947
HP:0000508HP:0000508Ptosis0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA11198966605947
HP:0000508HP:0000508Ptosis0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM11668980603157
HP:0000508HP:0000508Ptosis0PIK3R2 CL E G H5296603387Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387C1863924OMIM11888980603157
HP:0000508HP:0000508Ptosis0PITX3 CL E G H530988632ORPHA1399006602669
HP:0000508HP:0000508Ptosis0PITX3 CL E G H530988632ORPHA1419006602669
HP:0000508HP:0000508Ptosis0PLEC CL E G H5339257ORPHA133559069601282
HP:0000508HP:0000508Ptosis0PLEC CL E G H5339257ORPHA138429069601282
HP:0000508HP:0000508Ptosis0PLXND1 CL E G H23129570ORPHA11129107604282
HP:0000508HP:0000508Ptosis0PLXND1 CL E G H23129570ORPHA11139107604282
HP:0000508HP:0000508Ptosis0POLG CL E G H542870595ORPHA114709179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H542870595ORPHA117129179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428254892ORPHA114709179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428254892ORPHA117129179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM114709179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM117129179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM114709179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM117129179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA114709179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA117129179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM114709179174763
HP:0000508HP:0000508Ptosis0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM117129179174763
HP:0000508HP:0000508Ptosis0POLG2 CL E G H11232254892ORPHA11339180604983
HP:0000508HP:0000508Ptosis0POLG2 CL E G H11232254892ORPHA12049180604983
HP:0000508HP:0000508Ptosis0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM11339180604983
HP:0000508HP:0000508Ptosis0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12049180604983
HP:0000508HP:0000508Ptosis0PREPL CL E G H9581163690ORPHA139530228609557
HP:0000508HP:0000508Ptosis0PREPL CL E G H9581163690ORPHA149530228609557
HP:0000508HP:0000508Ptosis0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM139530228609557
HP:0000508HP:0000508Ptosis0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM149530228609557
HP:0000508HP:0000508Ptosis0PSMD12 CL E G H5718529962ORPHA1469557604450
HP:0000508HP:0000508Ptosis0PSMD12 CL E G H5718529962ORPHA1479557604450
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781500ORPHA15659644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781500ORPHA16299644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781648ORPHA15659644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781648ORPHA16299644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM15659644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM16299644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0000508HP:0000508Ptosis0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0000508HP:0000508Ptosis0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0000508HP:0000508Ptosis0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM13824713617387
HP:0000508HP:0000508Ptosis0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM16224713617387
HP:0000508HP:0000508Ptosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0000508HP:0000508Ptosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0000508HP:0000508Ptosis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12399811606462
HP:0000508HP:0000508Ptosis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12549811606462
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894500ORPHA16259829164760
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894500ORPHA16909829164760
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894648ORPHA16259829164760
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894648ORPHA16909829164760
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM16259829164760
HP:0000508HP:0000508Ptosis0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM16909829164760
HP:0000508HP:0000508Ptosis0RAP1A CL E G H59062322ORPHA1369855179520
HP:0000508HP:0000508Ptosis0RAP1B CL E G H59082322ORPHA1339857179530
HP:0000508HP:0000508Ptosis0RAPSN CL E G H591398913ORPHA13229863601592
HP:0000508HP:0000508Ptosis0RAPSN CL E G H591398913ORPHA13789863601592
HP:0000508HP:0000508Ptosis0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM13229863601592
HP:0000508HP:0000508Ptosis0RAPSN CL E G H5913616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency616326C4225367OMIM13789863601592
HP:0000508HP:0000508Ptosis0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM13229863601592
HP:0000508HP:0000508Ptosis0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM13789863601592
HP:0000508HP:0000508Ptosis0RASA2 CL E G H5922648ORPHA11739872601589
HP:0000508HP:0000508Ptosis0RASA2 CL E G H5922648ORPHA12369872601589
HP:0000508HP:0000508Ptosis0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA116439884614041
HP:0000508HP:0000508Ptosis0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA118839884614041
HP:0000508HP:0000508Ptosis0REV3L CL E G H5980570ORPHA11299968602776
HP:0000508HP:0000508Ptosis0RIT1 CL E G H6016648ORPHA113710023609591
HP:0000508HP:0000508Ptosis0RIT1 CL E G H6016648ORPHA116010023609591
HP:0000508HP:0000508Ptosis0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM113710023609591
HP:0000508HP:0000508Ptosis0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM116010023609591
HP:0000508HP:0000508Ptosis0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM18618466604123
HP:0000508HP:0000508Ptosis0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM19518466604123
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM179429168610937
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM196429168610937
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM179429168610937
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM196429168610937
HP:0000508HP:0000508Ptosis0RRAS CL E G H6237648ORPHA111610447165090
HP:0000508HP:0000508Ptosis0RRAS CL E G H6237648ORPHA115710447165090
HP:0000508HP:0000508Ptosis0RREB1 CL E G H6239567ORPHA117210449602209
HP:0000508HP:0000508Ptosis0RREB1 CL E G H6239567ORPHA117410449602209
HP:0000508HP:0000508Ptosis0RRM2B CL E G H50484254892ORPHA126117296604712
HP:0000508HP:0000508Ptosis0RRM2B CL E G H50484254892ORPHA127217296604712
HP:0000508HP:0000508Ptosis0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA126117296604712
HP:0000508HP:0000508Ptosis0RRM2B CL