Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000508 | HP:0000508 | Ptosis | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 789 | 23336 | 610627 |
HP:0000508 | HP:0000508 | Ptosis | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 916 | 23336 | 610627 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1125 | 59 | 600509 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ABCC8 CL E G H | 6833 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 1253 | 59 | 600509 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 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 | | 325 | 129 | 102610 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 362 | 129 | 102610 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 322 | 132 | 102630 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 349 | 132 | 102630 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ADPRHL2 CL E G H | 54936 | 618170 | NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | 618170 | | OMIM | 1 | | | 21304 | 610624 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1309 | 329 | 103320 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1579 | 329 | 103320 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1309 | 329 | 103320 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1579 | 329 | 103320 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1309 | 329 | 103320 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1579 | 329 | 103320 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 44 | 33814 | 615358 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 45 | 33814 | 615358 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AKT1 CL E G H | 207 | 176920 | Proteus syndrome | 176920 | C0085261 | OMIM | 1 | | 380 | 391 | 164730 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AKT1 CL E G H | 207 | 176920 | Proteus syndrome | 176920 | C0085261 | OMIM | 1 | | 417 | 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 | | 353 | 414 | 103850 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ALDOA CL E G H | 226 | 611881 | HNSHA due to aldolase A deficiency | 611881 | C0272066 | OMIM | 1 | | 381 | 414 | 103850 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ALX1 CL E G H | 8092 | 306542 | | | | ORPHA | 1 | | 31 | 1494 | 601527 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ALX3 CL E G H | 257 | 391474 | | | | ORPHA | 1 | | 42 | 449 | 606014 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ALX3 CL E G H | 257 | 391474 | | | | ORPHA | 1 | | 43 | 449 | 606014 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ALX3 CL E G H | 257 | 136760 | Frontonasal dysplasia 1 | 136760 | C1876203 | OMIM | 1 | | 42 | 449 | 606014 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ALX3 CL E G H | 257 | 136760 | Frontonasal dysplasia 1 | 136760 | C1876203 | OMIM | 1 | | 43 | 449 | 606014 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 184 | 29101 | 616062 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ANKLE2 CL E G H | 23141 | 616681 | Microcephaly 16, primary, autosomal recessive | 616681 | C4225249 | OMIM | 1 | | 189 | 29101 | 616062 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 214 | 25519 | 613726 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ANO10 CL E G H | 55129 | 284289 | | | | ORPHA | 1 | | 222 | 25519 | 613726 |
HP:0000508 | HP:0000508 | Ptosis | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 125 | 20492 | 616003 |
HP:0000508 | HP:0000508 | Ptosis | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 129 | 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 | | 125 | 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 | | 129 | 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 | | 37 | 682 | 607560 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARHGEF2 CL E G H | 9181 | 617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | 617523 | C4479613 | OMIM | 1 | | 41 | 682 | 607560 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARL3 CL E G H | 403 | 618161 | JOUBERT SYNDROME 35 | 618161 | | OMIM | 1 | | 64 | 694 | 604695 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARL3 CL E G H | 403 | 618161 | JOUBERT SYNDROME 35 | 618161 | | OMIM | 1 | | 90 | 694 | 604695 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 544 | 728 | 602269 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 550 | 728 | 602269 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 111 | 23805 | 612991 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 170 | 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 | | 1103 | 886 | 300032 |
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 | | 1217 | 886 | 300032 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ATXN3 CL E G H | 4287 | 109150 | Azorean disease | 109150 | C0024408 | OMIM | 1 | | 44 | 7106 | 607047 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 439 | 14262 | 607270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 454 | 14262 | 607270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 226 | 20207 | 610308 |
HP:0000508 | HP:0000508 | Ptosis | 0 | B3GLCT CL E G H | 145173 | 261540 | Peters plus syndrome | 261540 | C0796012 | OMIM | 1 | | 248 | 20207 | 610308 |
HP:0000508 | HP:0000508 | Ptosis | 0 | B9D2 CL E G H | 80776 | 614175 | Meckel syndrome, type 10 | 614175 | C3280036 | OMIM | 1 | | 50 | 28636 | 611951 |
HP:0000508 | HP:0000508 | Ptosis | 0 | B9D2 CL E G H | 80776 | 614175 | Meckel syndrome, type 10 | 614175 | C3280036 | OMIM | 1 | | 58 | 28636 | 611951 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 431 | 1052 | 601248 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BIN1 CL E G H | 274 | 169189 | | | | ORPHA | 1 | | 487 | 1052 | 601248 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 431 | 1052 | 601248 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 487 | 1052 | 601248 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 129 | 3581 | 601819 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BPTF CL E G H | 2186 | 529962 | | | | ORPHA | 1 | | 139 | 3581 | 601819 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 500 | | | | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | BRAF CL E G H | 673 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 680 | 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 | | 160 | 14255 | 602410 |
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 | | 173 | 14255 | 602410 |
HP:0000508 | HP:0000508 | Ptosis | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0000508 | HP:0000508 | Ptosis | 0 | C1QBP CL E G H | 708 | 617713 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 | 617713 | C4540209 | OMIM | 1 | | 43 | 1243 | 601269 |
HP:0000508 | HP:0000508 | Ptosis | 0 | C1QBP CL E G H | 708 | 617713 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 | 617713 | C4540209 | OMIM | 1 | | 46 | 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 | | 706 | 1541 | 165360 |
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 | | 858 | 1541 | 165360 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CCDC47 CL E G H | 57003 | 618268 | 618268 | 618268 | | OMIM | 1 | | 23 | 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 | | 191 | 1733 | 603309 |
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 | | 210 | 1733 | 603309 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 511 | 1912 | 118490 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 652 | 1912 | 118490 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 511 | 1912 | 118490 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHAT CL E G H | 1103 | 254210 | Familial infantile myasthenia | 254210 | C0393929 | OMIM | 1 | | 652 | 1912 | 118490 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 190 | 1919 | 603277 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 217 | 1919 | 603277 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1752 | 20626 | 608892 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1980 | 20626 | 608892 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1752 | 20626 | 608892 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHD7 CL E G H | 55636 | 214800 | CHARGE association | 214800 | C0265354 | OMIM | 1 | | 1980 | 20626 | 608892 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 316 | 1955 | 100690 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 357 | 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 | | 316 | 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 | | 357 | 1955 | 100690 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 316 | 1955 | 100690 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNA1 CL E G H | 1134 | 601462 | Myasthenic syndrome, slow-channel congenital | 601462 | C0751885 | OMIM | 1 | | 357 | 1955 | 100690 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 284 | 1961 | 100710 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 330 | 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 | | 284 | 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 | | 330 | 1961 | 100710 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 331 | 1965 | 100720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 373 | 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 | | 331 | 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 | | 373 | 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 | | 331 | 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 | | 373 | 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 | | 331 | 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 | | 373 | 1965 | 100720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 599 | 1966 | 100725 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 673 | 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 | | 599 | 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 | | 673 | 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 | | 599 | 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 | | 673 | 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 | | 599 | 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 | | 673 | 1966 | 100725 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 206 | 1967 | 100730 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNG CL E G H | 1146 | 2990 | | | | ORPHA | 1 | | 212 | 1967 | 100730 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 206 | 1967 | 100730 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 212 | 1967 | 100730 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 158 | 8011 | 602346 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 216 | 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 | | 27 | 25716 | 615623 |
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 | | 31 | 25716 | 615623 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 179 | 2190 | 120350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 294 | 2190 | 120350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 179 | 2190 | 120350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 294 | 2190 | 120350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 179 | 2190 | 120350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COL13A1 CL E G H | 1305 | 616720 | Myasthenic syndrome, congenital, 19 | 616720 | C4225235 | OMIM | 1 | | 294 | 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 | | 43 | 18603 | 610004 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COL25A1 CL E G H | 84570 | 616219 | Fibrosis of extraocular muscles, congenital, 5 | 616219 | C4015552 | OMIM | 1 | | 46 | 18603 | 610004 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC10 CL E G H | 10584 | 293843 | | | | ORPHA | 1 | | 54 | 2220 | 607620 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC10 CL E G H | 10584 | 293843 | | | | ORPHA | 1 | | 55 | 2220 | 607620 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC11 CL E G H | 78989 | 293843 | | | | ORPHA | 1 | | 62 | 17213 | 612502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC11 CL E G H | 78989 | 293843 | | | | ORPHA | 1 | | 65 | 17213 | 612502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC11 CL E G H | 78989 | 265050 | Carnevale syndrome | 265050 | C0796279 | OMIM | 1 | | 62 | 17213 | 612502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLEC11 CL E G H | 78989 | 265050 | Carnevale syndrome | 265050 | C0796279 | OMIM | 1 | | 65 | 17213 | 612502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 364 | 2226 | 603033 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 418 | 2226 | 603033 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 579 | 2228 | 116790 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 587 | 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 | | 247 | 2260 | 602125 |
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 | | 263 | 2260 | 602125 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 263 | 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 | | 24 | 28216 | 614478 |
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 | | 28 | 28216 | 614478 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 216 | 2263 | 603646 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 233 | 2263 | 603646 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 216 | 2263 | 603646 |
HP:0000508 | HP:0000508 | Ptosis | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 233 | 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 | | 139 | 26970 | 614698 |
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 | | 155 | 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 | | 44 | 2280 | 124089 |
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 | | 52 | 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 | | 18 | 2294 | 123870 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 177 | 2457 | 115440 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 182 | 2457 | 115440 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 476 | 26193 | 611654 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 687 | 26193 | 611654 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0000508 | HP:0000508 | Ptosis | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DBH CL E G H | 1621 | 223360 | Dopamine beta hydroxylase deficiency | 223360 | C0342687 | OMIM | 1 | | 268 | 2689 | 609312 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DBH CL E G H | 1621 | 223360 | Dopamine beta hydroxylase deficiency | 223360 | C0342687 | OMIM | 1 | | 314 | 2689 | 609312 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 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 | | 220 | 2719 | 107930 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 300 | 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 | | 140 | 2858 | 601465 |
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 | | 156 | 2858 | 601465 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 511 | 2860 | 602858 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 546 | 2860 | 602858 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 511 | 2860 | 602858 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 546 | 2860 | 602858 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 168 | 2896 | 608770 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 199 | 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 | | 223 | 2939 | 601810 |
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 | | 290 | 2939 | 601810 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 675 | 2974 | 602378 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DNM2 CL E G H | 1785 | 169189 | | | | ORPHA | 1 | | 766 | 2974 | 602378 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 675 | 2974 | 602378 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 766 | 2974 | 602378 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 645 | 26594 | 610285 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 750 | 26594 | 610285 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 645 | 26594 | 610285 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 750 | 26594 | 610285 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 645 | 26594 | 610285 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DOK7 CL E G H | 285489 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 750 | 26594 | 610285 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DPAGT1 CL E G H | 1798 | 614750 | Congenital myasthenic syndrome 13 | 614750 | C3553645 | OMIM | 1 | | 199 | 2995 | 191350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | DPAGT1 CL E G H | 1798 | 614750 | Congenital myasthenic syndrome 13 | 614750 | C3553645 | OMIM | 1 | | 233 | 2995 | 191350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 207 | 29419 | 612799 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 235 | 29419 | 612799 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EBP CL E G H | 10682 | 35173 | | | | ORPHA | 1 | | 265 | 3133 | 300205 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EBP CL E G H | 10682 | 35173 | | | | ORPHA | 1 | | 286 | 3133 | 300205 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ECEL1 CL E G H | 9427 | 615065 | Distal arthrogryposis type 5D | 615065 | C3554415 | OMIM | 1 | | 150 | 3147 | 605896 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ECEL1 CL E G H | 9427 | 615065 | Distal arthrogryposis type 5D | 615065 | C3554415 | OMIM | 1 | | 153 | 3147 | 605896 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 241 | 3151 | 602292 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 301 | 3151 | 602292 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 80 | 3188 | 605984 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EED CL E G H | 8726 | 617561 | Cohen-Gibson syndrome | 617561 | C4479654 | OMIM | 1 | | 86 | 3188 | 605984 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EFEMP2 CL E G H | 30008 | 90349 | | | | ORPHA | 1 | | 253 | 3219 | 604633 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EFEMP2 CL E G H | 30008 | 90349 | | | | ORPHA | 1 | | 272 | 3219 | 604633 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000508 | HP:0000508 | Ptosis | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ERF CL E G H | 2077 | 207 | Echinococcosis | | | ORPHA | 1 | | 111 | 3444 | 611888 |
HP:0000508 | HP:0000508 | Ptosis | 0 | ERF CL E G H | 2077 | 207 | Echinococcosis | | | ORPHA | 1 | | 120 | 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 | | 270 | 29160 | 612322 |
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 | | 294 | 29160 | 612322 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 519 | 23109 | 612411 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 989 | 23109 | 612411 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FBLN5 CL E G H | 10516 | 90349 | | | | ORPHA | 1 | | 200 | 3602 | 604580 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FBLN5 CL E G H | 10516 | 90349 | | | | ORPHA | 1 | | 258 | 3602 | 604580 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FBN1 CL E G H | 2200 | 2462 | | | | ORPHA | 1 | | 4968 | 3603 | 134797 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FBN1 CL E G H | 2200 | 2462 | | | | ORPHA | 1 | | 5457 | 3603 | 134797 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 312 | 3663 | 300546 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGD1 CL E G H | 2245 | 915 | | | | ORPHA | 1 | | 319 | 3663 | 300546 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGD1 CL E G H | 2245 | 305400 | Aarskog syndrome | 305400 | C0175701 | OMIM | 1 | | 312 | 3663 | 300546 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGD1 CL E G H | 2245 | 305400 | Aarskog syndrome | 305400 | C0175701 | OMIM | 1 | | 319 | 3663 | 300546 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 530 | 3688 | 136350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR1 CL E G H | 2260 | 2117 | Encephalopathy recurrent of childhood | | | ORPHA | 1 | | 597 | 3688 | 136350 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 794 | | | | ORPHA | 1 | | 466 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 794 | | | | ORPHA | 1 | | 501 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 1555 | | | | ORPHA | 1 | | 466 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 1555 | | | | ORPHA | 1 | | 501 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 1540 | Corpus callosum agenesis polysyndactyly | | | ORPHA | 1 | | 466 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 1540 | Corpus callosum agenesis polysyndactyly | | | ORPHA | 1 | | 501 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 207 | Echinococcosis | | | ORPHA | 1 | | 466 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 207 | Echinococcosis | | | ORPHA | 1 | | 501 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 101400 | Saethre-Chotzen syndrome | 101400 | C0175699 | OMIM | 1 | | 466 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR2 CL E G H | 2263 | 101400 | Saethre-Chotzen syndrome | 101400 | C0175699 | OMIM | 1 | | 501 | 3689 | 176943 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 794 | | | | ORPHA | 1 | | 541 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 794 | | | | ORPHA | 1 | | 542 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 53271 | | | | ORPHA | 1 | | 541 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 53271 | | | | ORPHA | 1 | | 542 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 541 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 93262 | | | | ORPHA | 1 | | 542 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 602849 | Muenke syndrome | 602849 | C1864436 | OMIM | 1 | | 541 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFR3 CL E G H | 2261 | 602849 | Muenke syndrome | 602849 | C1864436 | OMIM | 1 | | 542 | 3690 | 134934 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 214 | 3693 | 605830 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 267 | 3693 | 605830 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 1 | | 172 | 3749 | 193067 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FLI1 CL E G H | 2313 | 2308 | Fetal minoxidil syndrome | | | ORPHA | 1 | | 174 | 3749 | 193067 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FLNA CL E G H | 2316 | 300244 | Terminal osseous dysplasia | 300244 | C1846129 | OMIM | 1 | | 1893 | 3754 | 300017 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FLNA CL E G H | 2316 | 300244 | Terminal osseous dysplasia | 300244 | C1846129 | OMIM | 1 | | 2130 | 3754 | 300017 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 1 | | 115 | 3801 | 602402 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXC2 CL E G H | 2303 | 33001 | | | | ORPHA | 1 | | 117 | 3801 | 602402 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXC2 CL E G H | 2303 | 153400 | Distichiasis-lymphedema syndrome | 153400 | C0265345 | OMIM | 1 | | 115 | 3801 | 602402 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXC2 CL E G H | 2303 | 153400 | Distichiasis-lymphedema syndrome | 153400 | C0265345 | OMIM | 1 | | 117 | 3801 | 602402 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXE3 CL E G H | 2301 | 88632 | | | | ORPHA | 1 | | 152 | 3808 | 601094 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXE3 CL E G H | 2301 | 88632 | | | | ORPHA | 1 | | 176 | 3808 | 601094 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXL2 CL E G H | 668 | 110100 | Blepharophimosis, ptosis, and epicanthus inversus | 110100 | C0220663 | OMIM | 1 | | 173 | 1092 | 605597 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXL2 CL E G H | 668 | 110100 | Blepharophimosis, ptosis, and epicanthus inversus | 110100 | C0220663 | OMIM | 1 | | 175 | 1092 | 605597 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 210 | 26927 | 613622 |
HP:0000508 | HP:0000508 | Ptosis | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 231 | 26927 | 613622 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 564 | 4195 | 138079 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GCK CL E G H | 2645 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 624 | 4195 | 138079 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 110 | 4236 | 600924 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GFER CL E G H | 2671 | 330054 | | | | ORPHA | 1 | | 122 | 4236 | 600924 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 374 | 4241 | 138292 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 406 | 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 | | 374 | 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 | | 406 | 4241 | 138292 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GLI3 CL E G H | 2737 | 672 | Angiofollicular ganglionic hyperplasia | | | ORPHA | 1 | | 666 | 4319 | 165240 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GLI3 CL E G H | 2737 | 672 | Angiofollicular ganglionic hyperplasia | | | ORPHA | 1 | | 681 | 4319 | 165240 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 1 | | 430 | 4440 | 138720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 1 | | 438 | 4440 | 138720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GPRASP2 CL E G H | 114928 | 301018 | DEAFNESS, X-LINKED 7 | 301018 | | OMIM | 1 | | 176 | 25169 | 300969 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GPRASP2 CL E G H | 114928 | 301018 | DEAFNESS, X-LINKED 7 | 301018 | | OMIM | 1 | | 179 | 25169 | 300969 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 186 | 4593 | 604473 |
HP:0000508 | HP:0000508 | Ptosis | 0 | GRM1 CL E G H | 2911 | 614831 | Spinocerebellar ataxia, autosomal recessive 13 | 614831 | C3553816 | OMIM | 1 | | 193 | 4593 | 604473 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 269 | 13315 | 300269 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 287 | 13315 | 300269 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 1 | | 437 | 4916 | 600237 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 1 | | 442 | 4916 | 600237 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HMGB3 CL E G H | 3149 | 300915 | Microphthalmia, syndromic 13 | 300915 | C3806742 | OMIM | 1 | | 189 | 5004 | 300193 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HMGB3 CL E G H | 3149 | 300915 | Microphthalmia, syndromic 13 | 300915 | C3806742 | OMIM | 1 | | 192 | 5004 | 300193 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HNRNPK CL E G H | 3190 | 616580 | AU-KLINE SYNDROME | 616580 | C4225274 | OMIM | 1 | | 108 | 5044 | 600712 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HNRNPK CL E G H | 3190 | 616580 | AU-KLINE SYNDROME | 616580 | C4225274 | OMIM | 1 | | 111 | 5044 | 600712 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 31 | 5111 | 142968 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 1 | | 165 | 5154 | 601688 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HPGD CL E G H | 3248 | 2796 | Familial hypocalciuric hypercalcemia | | C1809471 | ORPHA | 1 | | 183 | 5154 | 601688 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HPGD CL E G H | 3248 | 259100 | Pachydermoperiostosis syndrome | 259100 | C0029411 | OMIM | 1 | | 165 | 5154 | 601688 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HPGD CL E G H | 3248 | 259100 | Pachydermoperiostosis syndrome | 259100 | C0029411 | OMIM | 1 | | 183 | 5154 | 601688 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 411 | 5173 | 190020 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HRAS CL E G H | 3265 | 218040 | Costello syndrome | 218040 | C0587248 | OMIM | 1 | | 467 | 5173 | 190020 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1327 | 5273 | 142461 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1600 | 5273 | 142461 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1327 | 5273 | 142461 |
HP:0000508 | HP:0000508 | Ptosis | 0 | HSPG2 CL E G H | 3339 | 255800 | Schwartz Jampel syndrome type 1 | 255800 | C0036391 | OMIM | 1 | | 1600 | 5273 | 142461 |
HP:0000508 | HP:0000508 | Ptosis | 0 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 645 | 5389 | 300823 |
HP:0000508 | HP:0000508 | Ptosis | 0 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 682 | 5389 | 300823 |
HP:0000508 | HP:0000508 | Ptosis | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 109 | 18550 | 609382 |
HP:0000508 | HP:0000508 | Ptosis | 0 | IER3IP1 CL E G H | 51124 | 614231 | Microcephaly, epilepsy, and diabetes syndrome | 614231 | C3280240 | OMIM | 1 | | 118 | 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 | | 170 | 5464 | 147440 |
HP:0000508 | HP:0000508 | Ptosis | 0 | IGF1 CL E G H | 3479 | 608747 | Insulin-like growth factor I deficiency | 608747 | C1837475 | OMIM | 1 | | 178 | 5464 | 147440 |
HP:0000508 | HP:0000508 | Ptosis | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 466 | 21474 | 613037 |
HP:0000508 | HP:0000508 | Ptosis | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 559 | 21474 | 613037 |
HP:0000508 | HP:0000508 | Ptosis | 0 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 129 | 6081 | 176730 |
HP:0000508 | HP:0000508 | Ptosis | 0 | INS CL E G H | 3630 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 154 | 6081 | 176730 |
HP:0000508 | HP:0000508 | Ptosis | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 1 | | 810 | 12313 | 604503 |
HP:0000508 | HP:0000508 | Ptosis | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 1 | | 899 | 12313 | 604503 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1047 | 24565 | 612452 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1143 | 24565 | 612452 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 400 | 13013 | 601408 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KAT6A CL E G H | 7994 | 457193 | | | | ORPHA | 1 | | 427 | 13013 | 601408 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 400 | 13013 | 601408 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KAT6A CL E G H | 7994 | 616268 | Mental retardation, autosomal dominant 32 | 616268 | C4225396 | OMIM | 1 | | 427 | 13013 | 601408 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 396 | 17582 | 605880 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 487 | 17582 | 605880 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 301 | 6257 | 600937 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KCNJ11 CL E G H | 3767 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 322 | 6257 | 600937 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KDM5B CL E G H | 10765 | 618109 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 | 618109 | CN253823 | OMIM | 1 | | 100 | 18039 | 605393 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KDM5B CL E G H | 10765 | 618109 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 | 618109 | CN253823 | OMIM | 1 | | 107 | 18039 | 605393 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 502 | 12637 | 300128 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 562 | 12637 | 300128 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 502 | 12637 | 300128 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 562 | 12637 | 300128 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KIAA0556 CL E G H | 23247 | 616784 | Joubert syndrome 26 | 616784 | C4084843 | OMIM | 1 | | | 29068 | 616650 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KIF1BP CL E G H | 26128 | 66629 | | | | ORPHA | 1 | | | 23419 | 609367 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KIF1BP CL E G H | 26128 | 609460 | Goldberg-Shprintzen megacolon syndrome | 609460 | C1836123 | OMIM | 1 | | | 23419 | 609367 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 369 | 6323 | 602821 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KIF5A CL E G H | 3798 | 617235 | Myoclonus, intractable, neonatal | 617235 | C4310658 | OMIM | 1 | | 548 | 6323 | 602821 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 673 | 7132 | 159555 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 974 | 7132 | 159555 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 1828 | 7133 | 602113 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 2371 | 7133 | 602113 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 1828 | 7133 | 602113 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2371 | 7133 | 602113 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 331 | 6407 | 190070 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 341 | 6407 | 190070 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRAS CL E G H | 3845 | 615278 | Cardiofaciocutaneous syndrome 2 | 615278 | C3809005 | OMIM | 1 | | 331 | 6407 | 190070 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRAS CL E G H | 3845 | 615278 | Cardiofaciocutaneous syndrome 2 | 615278 | C3809005 | OMIM | 1 | | 341 | 6407 | 190070 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 331 | 6407 | 190070 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 341 | 6407 | 190070 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRT14 CL E G H | 3861 | 79399 | | | | ORPHA | 1 | | 148 | 6416 | 148066 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRT14 CL E G H | 3861 | 79399 | | | | ORPHA | 1 | | 155 | 6416 | 148066 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRT5 CL E G H | 3852 | 79399 | | | | ORPHA | 1 | | 241 | 6442 | 148040 |
HP:0000508 | HP:0000508 | Ptosis | 0 | KRT5 CL E G H | 3852 | 79399 | | | | ORPHA | 1 | | 252 | 6442 | 148040 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 188 | 6556 | 604407 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 228 | 6556 | 604407 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 188 | 6556 | 604407 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 228 | 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 | | 74 | 18712 | 608303 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LGI4 CL E G H | 163175 | 617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 | C4479539 | OMIM | 1 | | 79 | 18712 | 608303 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 1 | | 388 | 6601 | 601837 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LIG4 CL E G H | 3981 | 235 | | | | ORPHA | 1 | | 467 | 6601 | 601837 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 73 | 29569 | 610284 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 90 | 29569 | 610284 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LMNA CL E G H | 4000 | 2229 | | | | ORPHA | 1 | | 1347 | 6636 | 150330 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LMNA CL E G H | 4000 | 2229 | | | | ORPHA | 1 | | 1486 | 6636 | 150330 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LMX1B CL E G H | 4010 | 161200 | Nail-patella syndrome | 161200 | C0027341 | OMIM | 1 | | 374 | 6654 | 602575 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LMX1B CL E G H | 4010 | 161200 | Nail-patella syndrome | 161200 | C0027341 | OMIM | 1 | | 430 | 6654 | 602575 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LONP1 CL E G H | 9361 | 1458 | | | | ORPHA | 1 | | 221 | 9479 | 605490 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LONP1 CL E G H | 9361 | 1458 | | | | ORPHA | 1 | | 357 | 9479 | 605490 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 534 | 6696 | 604270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 676 | 6696 | 604270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 534 | 6696 | 604270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 676 | 6696 | 604270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LRP4 CL E G H | 4038 | 616304 | Myasthenic syndrome, congenital, 17 | 616304 | C4225377 | OMIM | 1 | | 534 | 6696 | 604270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LRP4 CL E G H | 4038 | 616304 | Myasthenic syndrome, congenital, 17 | 616304 | C4225377 | OMIM | 1 | | 676 | 6696 | 604270 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 956 | 6742 | 600574 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 1278 | 6742 | 600574 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LZTR1 CL E G H | 8216 | 616564 | Noonan syndrome 10 | 616564 | C4225280 | OMIM | 1 | | 956 | 6742 | 600574 |
HP:0000508 | HP:0000508 | Ptosis | 0 | LZTR1 CL E G H | 8216 | 616564 | Noonan syndrome 10 | 616564 | C4225280 | OMIM | 1 | | 1278 | 6742 | 600574 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAF CL E G H | 4094 | 601088 | Ayme-gripp syndrome | 601088 | C1832812 | OMIM | 1 | | 247 | 6776 | 177075 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAF CL E G H | 4094 | 601088 | Ayme-gripp syndrome | 601088 | C1832812 | OMIM | 1 | | 278 | 6776 | 177075 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 306 | 6840 | 176872 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 336 | 6840 | 176872 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 306 | 6840 | 176872 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K1 CL E G H | 5604 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 336 | 6840 | 176872 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K2 CL E G H | 5605 | 638 | | | | ORPHA | 1 | | 452 | 6842 | 601263 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K2 CL E G H | 5605 | 638 | | | | ORPHA | 1 | | 515 | 6842 | 601263 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 452 | 6842 | 601263 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 515 | 6842 | 601263 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MARK3 CL E G H | 4140 | 618283 | 618283 | 618283 | | OMIM | 1 | | 56 | 6897 | 602678 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MARK3 CL E G H | 4140 | 618283 | 618283 | 618283 | | OMIM | 1 | | 60 | 6897 | 602678 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MASP1 CL E G H | 5648 | 293843 | | | | ORPHA | 1 | | 214 | 6901 | 600521 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MASP1 CL E G H | 5648 | 293843 | | | | ORPHA | 1 | | 220 | 6901 | 600521 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MCM5 CL E G H | 4174 | 617564 | MEIER-GORLIN SYNDROME 8 | 617564 | C4479655 | OMIM | 1 | | 34 | 6948 | 602696 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MCM5 CL E G H | 4174 | 617564 | MEIER-GORLIN SYNDROME 8 | 617564 | C4479655 | OMIM | 1 | | 99 | 6948 | 602696 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MECP2 CL E G H | 4204 | 1762 | | | | ORPHA | 1 | | 1603 | 6990 | 300005 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MECP2 CL E G H | 4204 | 1762 | | | | ORPHA | 1 | | 1684 | 6990 | 300005 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MED12 CL E G H | 9968 | 300895 | Ohdo syndrome, X-linked | 300895 | C3698541 | OMIM | 1 | | 941 | 11957 | 300188 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MED12 CL E G H | 9968 | 300895 | Ohdo syndrome, X-linked | 300895 | C3698541 | OMIM | 1 | | 1034 | 11957 | 300188 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MED25 CL E G H | 81857 | 616449 | Basel-Vanagaite-Smirin-Yosef syndrome | 616449 | C4225323 | OMIM | 1 | | 397 | 28845 | 610197 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MED25 CL E G H | 81857 | 616449 | Basel-Vanagaite-Smirin-Yosef syndrome | 616449 | C4225323 | OMIM | 1 | | 464 | 28845 | 610197 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 69 | 16205 | 615076 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 75 | 16205 | 615076 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 69 | 16205 | 615076 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 75 | 16205 | 615076 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 63 | 16618 | 611994 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 69 | 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 | | 132 | 29666 | 611766 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 162 | 29666 | 611766 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 610 | 7448 | 300415 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 648 | 7448 | 300415 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 75 | 26190 | 611089 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MTMR14 CL E G H | 64419 | 169189 | | | | ORPHA | 1 | | 114 | 26190 | 611089 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 383 | 7525 | 601296 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 450 | 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 | | 383 | 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 | | 450 | 7525 | 601296 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 383 | 7525 | 601296 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MUSK CL E G H | 4593 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 450 | 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 | | 27 | 7565 | 159990 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 74 | 7566 | 159991 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYF6 CL E G H | 4618 | 169189 | | | | ORPHA | 1 | | 79 | 7566 | 159991 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH3 CL E G H | 4621 | 178110 | Distal arthrogryposis type 8 | 178110 | C1867440 | OMIM | 1 | | 444 | 7573 | 160720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH3 CL E G H | 4621 | 178110 | Distal arthrogryposis type 8 | 178110 | C1867440 | OMIM | 1 | | 533 | 7573 | 160720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH3 CL E G H | 4621 | 2053 | Ectodermal dysplasia neurosensory deafness | | | ORPHA | 1 | | 444 | 7573 | 160720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH3 CL E G H | 4621 | 2053 | Ectodermal dysplasia neurosensory deafness | | | ORPHA | 1 | | 533 | 7573 | 160720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH3 CL E G H | 4621 | 193700 | Freeman-Sheldon syndrome | 193700 | C0265224 | OMIM | 1 | | 444 | 7573 | 160720 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH3 CL E G H | 4621 | 193700 | Freeman-Sheldon syndrome | 193700 | C0265224 | OMIM | 1 | | 533 | 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 | | 2960 | 7577 | 160760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3292 | 7577 | 160760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH8 CL E G H | 4626 | 158300 | Hecht syndrome | 158300 | C0265226 | OMIM | 1 | | 280 | 7578 | 160741 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYH8 CL E G H | 4626 | 158300 | Hecht syndrome | 158300 | C0265226 | OMIM | 1 | | 281 | 7578 | 160741 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 77 | 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 | | 77 | 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 | | 331 | 18150 | 607295 |
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 | | 841 | 18150 | 607295 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 164 | 7608 | 604875 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 168 | 7608 | 604875 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYO9A CL E G H | 4649 | 618198 | MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | 618198 | | OMIM | 1 | | 164 | 7608 | 604875 |
HP:0000508 | HP:0000508 | Ptosis | 0 | MYO9A CL E G H | 4649 | 618198 | MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC | 618198 | | OMIM | 1 | | 168 | 7608 | 604875 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 333 | 18704 | 300013 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 348 | 18704 | 300013 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NALCN CL E G H | 259232 | 2053 | Ectodermal dysplasia neurosensory deafness | | | ORPHA | 1 | | 573 | 19082 | 611549 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NALCN CL E G H | 259232 | 2053 | Ectodermal dysplasia neurosensory deafness | | | ORPHA | 1 | | 590 | 19082 | 611549 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 163 | 26274 | 612803 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 181 | 26274 | 612803 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 336 | 7684 | 603835 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 359 | 7684 | 603835 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 53 | 23987 | 614530 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 64 | 23987 | 614530 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 18 | 17194 | 609435 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 19 | 17194 | 609435 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 71 | 7685 | 602137 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 74 | 7685 | 602137 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 70 | 7687 | 603833 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 73 | 7687 | 603833 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 149 | 7693 | 603834 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 172 | 7693 | 603834 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 102 | 28086 | 609653 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 109 | 28086 | 609653 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 221 | 15899 | 612360 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 228 | 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 | | 221 | 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 | | 228 | 15899 | 612360 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 166 | 28625 | 612392 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 185 | 28625 | 612392 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 263 | 7707 | 157655 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 301 | 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 | | 263 | 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 | | 301 | 7707 | 157655 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 139 | 7708 | 602985 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 160 | 7708 | 602985 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 77 | 7710 | 603846 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 91 | 7710 | 603846 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 97 | 7711 | 602694 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 101 | 7711 | 602694 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 97 | 7711 | 602694 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 101 | 7711 | 602694 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 130 | 7714 | 601825 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 142 | 7714 | 601825 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 82 | 7715 | 602141 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 88 | 7715 | 602141 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 174 | 7716 | 161015 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 200 | 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 | | 174 | 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 | | 200 | 7716 | 161015 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 163 | 7717 | 600532 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 180 | 7717 | 600532 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 171 | 12768 | 606026 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 175 | 12768 | 606026 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NF1 CL E G H | 4763 | 638 | | | | ORPHA | 1 | | 8060 | 7765 | 613113 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NF1 CL E G H | 4763 | 638 | | | | ORPHA | 1 | | 9151 | 7765 | 613113 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1003 | 28862 | 608667 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1069 | 28862 | 608667 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1003 | 28862 | 608667 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NIPBL CL E G H | 25836 | 122470 | Cornelia de Lange syndrome 1 | 122470 | CN029798 | OMIM | 1 | | 1069 | 28862 | 608667 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NOTCH3 CL E G H | 4854 | 2789 | | | | ORPHA | 1 | | 860 | 7883 | 600276 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NOTCH3 CL E G H | 4854 | 2789 | | | | ORPHA | 1 | | 946 | 7883 | 600276 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NOTCH3 CL E G H | 4854 | 130720 | Lehman syndrome | 130720 | C1851710 | OMIM | 1 | | 860 | 7883 | 600276 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NOTCH3 CL E G H | 4854 | 130720 | Lehman syndrome | 130720 | C1851710 | OMIM | 1 | | 946 | 7883 | 600276 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 212 | 7989 | 164790 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 226 | 7989 | 164790 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 249 | 12766 | 602952 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 262 | 12766 | 602952 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 249 | 12766 | 602952 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 262 | 12766 | 602952 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 1 | | 386 | 25994 | 610916 |
HP:0000508 | HP:0000508 | Ptosis | 0 | NSUN2 CL E G H | 54888 | 235 | | | | ORPHA | 1 | | 401 | 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 | | 598 | 8140 | 605290 |
HP:0000508 | HP:0000508 | Ptosis | 0 | OPA1 CL E G H | 4976 | 125250 | Autosomal dominant optic atrophy plus syndrome | 125250 | C1852267 | OMIM | 1 | | 739 | 8140 | 605290 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PABPN1 CL E G H | 8106 | 270 | | | | ORPHA | 1 | | 61 | 8565 | 602279 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PACS1 CL E G H | 55690 | 615009 | Schuurs-hoeijmakers syndrome | 615009 | C3554343 | OMIM | 1 | | 219 | 30032 | 607492 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PACS1 CL E G H | 55690 | 615009 | Schuurs-hoeijmakers syndrome | 615009 | C3554343 | OMIM | 1 | | 245 | 30032 | 607492 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PAX6 CL E G H | 5080 | 893 | | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PAX6 CL E G H | 5080 | 893 | | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDGFRB CL E G H | 5159 | 616592 | Kosaki overgrowth syndrome | 616592 | C4225270 | OMIM | 1 | | 283 | 8804 | 173410 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDGFRB CL E G H | 5159 | 616592 | Kosaki overgrowth syndrome | 616592 | C4225270 | OMIM | 1 | | 304 | 8804 | 173410 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 530 | 8806 | 300502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 538 | 8806 | 300502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 102 | 6107 | 600733 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PDX1 CL E G H | 3651 | 606176 | Permanent neonatal diabetes mellitus | 606176 | C1833104 | OMIM | 1 | | 118 | 6107 | 600733 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEPD CL E G H | 5184 | 170100 | Prolidase deficiency | 170100 | C0268532 | OMIM | 1 | | 188 | 8840 | 613230 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEPD CL E G H | 5184 | 170100 | Prolidase deficiency | 170100 | C0268532 | OMIM | 1 | | 291 | 8840 | 613230 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 43 | 40038 | 614770 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 51 | 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 | | 43 | 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 | | 51 | 40038 | 614770 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 793 | 8850 | 602136 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 951 | 8850 | 602136 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 480 | 8851 | 602859 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 578 | 8851 | 602859 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 284 | 8853 | 603867 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 332 | 8853 | 603867 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 245 | 8854 | 601758 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 320 | 8854 | 601758 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 234 | 8855 | 601789 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 342 | 8855 | 601789 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 234 | 8856 | 601791 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 311 | 8856 | 601791 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 203 | 8857 | 603360 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 282 | 8857 | 603360 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 181 | 9713 | 600279 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 249 | 9713 | 600279 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 254 | 9717 | 170993 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 319 | 9717 | 170993 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 315 | 22965 | 608666 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 392 | 22965 | 608666 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 158 | 8858 | 603164 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 219 | 8858 | 603164 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 406 | 9719 | 600414 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 563 | 9719 | 600414 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 645 | 8859 | 601498 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 855 | 8859 | 601498 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 310 | 8860 | 601757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 363 | 8860 | 601757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 310 | 8860 | 601757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 363 | 8860 | 601757 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 269 | 18145 | 300414 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 274 | 18145 | 300414 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 269 | 18145 | 300414 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 274 | 18145 | 300414 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 201 | 8940 | 602026 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 260 | 8940 | 602026 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 201 | 8940 | 602026 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 260 | 8940 | 602026 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 672 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 709 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 1154 | Cataract mental retardation hypogonadism | | | ORPHA | 1 | | 672 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 1154 | Cataract mental retardation hypogonadism | | | ORPHA | 1 | | 709 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 114300 | Gordon's syndrome | 114300 | C0220666 | OMIM | 1 | | 672 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 114300 | Gordon's syndrome | 114300 | C0220666 | OMIM | 1 | | 709 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 672 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 709 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 108145 | Oculomelic amyoplasia | 108145 | C1862472 | OMIM | 1 | | 672 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIEZO2 CL E G H | 63895 | 108145 | Oculomelic amyoplasia | 108145 | C1862472 | OMIM | 1 | | 709 | 26270 | 613629 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIGL CL E G H | 9487 | 3474 | Meningoencephalocele-arthrogryposis-hypoplastic thumb | | | ORPHA | 1 | | 110 | 8966 | 605947 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIGL CL E G H | 9487 | 3474 | Meningoencephalocele-arthrogryposis-hypoplastic thumb | | | ORPHA | 1 | | 119 | 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 | | 166 | 8980 | 603157 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 188 | 8980 | 603157 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PITX3 CL E G H | 5309 | 88632 | | | | ORPHA | 1 | | 39 | 9006 | 602669 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PITX3 CL E G H | 5309 | 88632 | | | | ORPHA | 1 | | 41 | 9006 | 602669 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PLEC CL E G H | 5339 | 257 | | | | ORPHA | 1 | | 3355 | 9069 | 601282 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PLEC CL E G H | 5339 | 257 | | | | ORPHA | 1 | | 3842 | 9069 | 601282 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 112 | 9107 | 604282 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 113 | 9107 | 604282 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1712 | 9179 | 174763 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG CL E G H | 5428 | 254892 | | | | ORPHA | 1 | | 1712 | 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 | | 1470 | 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 | | 1712 | 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 | | 1470 | 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 | | 1712 | 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 | | 1470 | 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 | | 1712 | 9179 | 174763 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG CL E G H | 5428 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 1712 | 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 | | 1470 | 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 | | 1712 | 9179 | 174763 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 133 | 9180 | 604983 |
HP:0000508 | HP:0000508 | Ptosis | 0 | POLG2 CL E G H | 11232 | 254892 | | | | ORPHA | 1 | | 204 | 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 | | 133 | 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 | | 204 | 9180 | 604983 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 395 | 30228 | 609557 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 495 | 30228 | 609557 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PREPL CL E G H | 9581 | 616224 | Myasthenic syndrome, congenital, 22 | 616224 | C4479088 | OMIM | 1 | | 395 | 30228 | 609557 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PREPL CL E G H | 9581 | 616224 | Myasthenic syndrome, congenital, 22 | 616224 | C4479088 | OMIM | 1 | | 495 | 30228 | 609557 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PSMD12 CL E G H | 5718 | 529962 | | | | ORPHA | 1 | | 46 | 9557 | 604450 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PSMD12 CL E G H | 5718 | 529962 | | | | ORPHA | 1 | | 47 | 9557 | 604450 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 1 | | 565 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 500 | | | | ORPHA | 1 | | 629 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 565 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 629 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 1 | | 565 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 151100 | LEOPARD syndrome 1 | 151100 | CN074218 | OMIM | 1 | | 629 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 565 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PTPN11 CL E G H | 5781 | 163950 | Noonan syndrome 1 | 163950 | C0041409 | OMIM | 1 | | 629 | 9644 | 176876 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PUM1 CL E G H | 9698 | 617931 | SPINOCEREBELLAR ATAXIA 47 | 617931 | CN244564 | OMIM | 1 | | 86 | 14957 | 607204 |
HP:0000508 | HP:0000508 | Ptosis | 0 | PUM1 CL E G H | 9698 | 617931 | SPINOCEREBELLAR ATAXIA 47 | 617931 | CN244564 | OMIM | 1 | | 88 | 14957 | 607204 |
HP:0000508 | HP:0000508 | Ptosis | 0 | QRICH1 CL E G H | 54870 | 617982 | VERVERI-BRADY SYNDROME | 617982 | CN244927 | OMIM | 1 | | 38 | 24713 | 617387 |
HP:0000508 | HP:0000508 | Ptosis | 0 | QRICH1 CL E G H | 54870 | 617982 | VERVERI-BRADY SYNDROME | 617982 | CN244927 | OMIM | 1 | | 62 | 24713 | 617387 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 270 | 17063 | 602536 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 290 | 17063 | 602536 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 239 | 9811 | 606462 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 254 | 9811 | 606462 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 1 | | 625 | 9829 | 164760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAF1 CL E G H | 5894 | 500 | | | | ORPHA | 1 | | 690 | 9829 | 164760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 625 | 9829 | 164760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 690 | 9829 | 164760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAF1 CL E G H | 5894 | 611553 | Noonan syndrome 5 | 611553 | C1969057 | OMIM | 1 | | 625 | 9829 | 164760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAF1 CL E G H | 5894 | 611553 | Noonan syndrome 5 | 611553 | C1969057 | OMIM | 1 | | 690 | 9829 | 164760 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 36 | 9855 | 179520 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 33 | 9857 | 179530 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 322 | 9863 | 601592 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 378 | 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 | | 322 | 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 | | 378 | 9863 | 601592 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 322 | 9863 | 601592 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RAPSN CL E G H | 5913 | 208150 | Pena-Shokeir syndrome type I | 208150 | C1276035 | OMIM | 1 | | 378 | 9863 | 601592 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 173 | 9872 | 601589 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 236 | 9872 | 601589 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RB1 CL E G H | 5925 | 1587 | Craniosynostosis arthrogryposis cleft palate | | | ORPHA | 1 | | 1643 | 9884 | 614041 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RB1 CL E G H | 5925 | 1587 | Craniosynostosis arthrogryposis cleft palate | | | ORPHA | 1 | | 1883 | 9884 | 614041 |
HP:0000508 | HP:0000508 | Ptosis | 0 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 129 | 9968 | 602776 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 137 | 10023 | 609591 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 160 | 10023 | 609591 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 137 | 10023 | 609591 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RIT1 CL E G H | 6016 | 615355 | Noonan syndrome 8 | 615355 | C3809233 | OMIM | 1 | | 160 | 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 | | 86 | 18466 | 604123 |
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 | | 95 | 18466 | 604123 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 794 | 29168 | 610937 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 964 | 29168 | 610937 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 794 | 29168 | 610937 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 964 | 29168 | 610937 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 116 | 10447 | 165090 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 157 | 10447 | 165090 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 1 | | 172 | 10449 | 602209 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 1 | | 174 | 10449 | 602209 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 261 | 17296 | 604712 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RRM2B CL E G H | 50484 | 254892 | | | | ORPHA | 1 | | 272 | 17296 | 604712 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RRM2B CL E G H | 50484 | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | | CN918676 | ORPHA | 1 | | 261 | 17296 | 604712 |
HP:0000508 | HP:0000508 | Ptosis | 0 | RRM2B CL |