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

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000508HP:0000508Ptosis0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0ABCC8 CL E G H683359ORPHA:79134DEND syndrome245
HP:0000508HP:0000508Ptosis0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitus245
HP:0000508HP:0000508Ptosis0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0000508HP:0000508Ptosis0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0000508HP:0000508Ptosis0ACKR3 CL E G H5700723692OMIM:619215OCULOMOTOR-ABDUCENS SYNKINESIS; OCABSN
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare96
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000508HP:0000508Ptosis0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0000508HP:0000508Ptosis0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000508HP:0000508Ptosis0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000508HP:0000508Ptosis0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000508HP:0000508Ptosis0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0000508HP:0000508Ptosis0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000508HP:0000508Ptosis0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0000508HP:0000508Ptosis0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000508HP:0000508Ptosis0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0000508HP:0000508Ptosis0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0000508HP:0000508Ptosis0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000508HP:0000508Ptosis0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0000508HP:0000508Ptosis0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0000508HP:0000508Ptosis0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040282 - Frequent86
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0000508HP:0000508Ptosis0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0000508HP:0000508Ptosis0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0000508HP:0000508Ptosis0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0000508HP:0000508Ptosis0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0000508HP:0000508Ptosis0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000508HP:0000508Ptosis0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040283 - Occasional95
HP:0000508HP:0000508Ptosis0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000508HP:0000508Ptosis0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0000508HP:0000508Ptosis0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000508HP:0000508Ptosis0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0000508HP:0000508Ptosis0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0000508HP:0000508Ptosis0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0000508HP:0000508Ptosis0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0000508HP:0000508Ptosis0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000508HP:0000508Ptosis0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000508HP:0000508Ptosis0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000508HP:0000508Ptosis0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000508HP:0000508Ptosis0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000508HP:0000508Ptosis0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0000508HP:0000508Ptosis0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0000508HP:0000508Ptosis0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000508HP:0000508Ptosis0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0APC CL E G H324583ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional3179
HP:0000508HP:0000508Ptosis0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000508HP:0000508Ptosis0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000508HP:0000508Ptosis0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000508HP:0000508Ptosis0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000508HP:0000508Ptosis0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000508HP:0000508Ptosis0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0000508HP:0000508Ptosis0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0000508HP:0000508Ptosis0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000508HP:0000508Ptosis0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0000508HP:0000508Ptosis0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome.7
HP:0000508HP:0000508Ptosis0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000508HP:0000508Ptosis0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000508HP:0000508Ptosis0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000508HP:0000508Ptosis0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0000508HP:0000508Ptosis0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000508HP:0000508Ptosis0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0000508HP:0000508Ptosis0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0000508HP:0000508Ptosis0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000508HP:0000508Ptosis0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000508HP:0000508Ptosis0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0000508HP:0000508Ptosis0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0B9D2 CL E G H8077628636OMIM:614175Meckel syndrome, type 10.34
HP:0000508HP:0000508Ptosis0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000508HP:0000508Ptosis0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0000508HP:0000508Ptosis0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000508HP:0000508Ptosis0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000508HP:0000508Ptosis0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000508HP:0000508Ptosis0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0000508HP:0000508Ptosis0BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040282 - Frequent5
HP:0000508HP:0000508Ptosis0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0000508HP:0000508Ptosis0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0000508HP:0000508Ptosis0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000508HP:0000508Ptosis0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000508HP:0000508Ptosis0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000508HP:0000508Ptosis0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000508HP:0000508Ptosis0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0000508HP:0000508Ptosis0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000508HP:0000508Ptosis0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0000508HP:0000508Ptosis0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0000508HP:0000508Ptosis0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare56
HP:0000508HP:0000508Ptosis0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000508HP:0000508Ptosis0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000508HP:0000508Ptosis0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000508HP:0000508Ptosis0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000508HP:0000508Ptosis0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000508HP:0000508Ptosis0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0000508HP:0000508Ptosis0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000508HP:0000508Ptosis0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIOHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000508HP:0000508Ptosis0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000508HP:0000508Ptosis0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000508HP:0000508Ptosis0CDC42BPB CL E G H95781738OMIM:619841
HP:0000508HP:0000508Ptosis0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000508HP:0000508Ptosis0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040283 - Occasional636
HP:0000508HP:0000508Ptosis0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0000508HP:0000508Ptosis0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0000508HP:0000508Ptosis0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000508HP:0000508Ptosis0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0000508HP:0000508Ptosis0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000508HP:0000508Ptosis0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0000508HP:0000508Ptosis0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000508HP:0000508Ptosis0CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34
HP:0000508HP:0000508Ptosis0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0000508HP:0000508Ptosis0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0000508HP:0000508Ptosis0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0000508HP:0000508Ptosis0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2HP:0040283 - Occasional11
HP:0000508HP:0000508Ptosis0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare11
HP:0000508HP:0000508Ptosis0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000508HP:0000508Ptosis0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000508HP:0000508Ptosis0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000508HP:0000508Ptosis0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0000508HP:0000508Ptosis0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000508HP:0000508Ptosis0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel.74
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0000508HP:0000508Ptosis0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0000508HP:0000508Ptosis0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency.88
HP:0000508HP:0000508Ptosis0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0000508HP:0000508Ptosis0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0000508HP:0000508Ptosis0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000508HP:0000508Ptosis0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000508HP:0000508Ptosis0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000508HP:0000508Ptosis0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000508HP:0000508Ptosis0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0000508HP:0000508Ptosis0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0000508HP:0000508Ptosis0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0000508HP:0000508Ptosis0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19.6
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0000508HP:0000508Ptosis0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0000508HP:0000508Ptosis0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000508HP:0000508Ptosis0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0000508Ptosis0COL25A1 CL E G H8457018603OMIM:616219Fibrosis of extraocular muscles, congenital, 5.3
HP:0000508HP:0000508Ptosis0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0000508HP:0000508Ptosis0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000508HP:0000508Ptosis0COL9A3 CL E G H12992219OMIM:620022137
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 3.3
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040281 - Very frequent9
HP:0000508HP:0000508Ptosis0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000508HP:0000508Ptosis0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0000508HP:0000508Ptosis0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0000508HP:0000508Ptosis0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000508HP:0000508Ptosis0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0000508HP:0000508Ptosis0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0000508HP:0000508Ptosis0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0000508HP:0000508Ptosis0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000508HP:0000508Ptosis0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000508HP:0000508Ptosis0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000508HP:0000508Ptosis0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000508HP:0000508Ptosis0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000508HP:0000508Ptosis0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040283 - Occasional57
HP:0000508HP:0000508Ptosis0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0000508HP:0000508Ptosis0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000508HP:0000508Ptosis0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0000508HP:0000508Ptosis0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0000508HP:0000508Ptosis0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0000508HP:0000508Ptosis0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0000508HP:0000508Ptosis0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0000508HP:0000508Ptosis0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0000508HP:0000508Ptosis0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0000508HP:0000508Ptosis0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000508HP:0000508Ptosis0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0000508HP:0000508Ptosis0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000508HP:0000508Ptosis0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000508HP:0000508Ptosis0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0000508HP:0000508Ptosis0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0000508HP:0000508Ptosis0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040283 - Occasional164
HP:0000508HP:0000508Ptosis0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0000508HP:0000508Ptosis0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0000508HP:0000508Ptosis0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0000508HP:0000508Ptosis0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0000508HP:0000508Ptosis0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional94
HP:0000508HP:0000508Ptosis0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0000508HP:0000508Ptosis0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0000508HP:0000508Ptosis0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0000508HP:0000508Ptosis0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0000508HP:0000508Ptosis0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0000508HP:0000508Ptosis0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0000508HP:0000508Ptosis0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0000508HP:0000508Ptosis0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0EARS2 CL E G H12445429419OMIM:614924Combined oxidative phosphorylation deficiency 12.80
HP:0000508HP:0000508Ptosis0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D.37
HP:0000508HP:0000508Ptosis0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0000508HP:0000508Ptosis0EDEM3 CL E G H8026716787OMIM:619493CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000508HP:0000508Ptosis0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional6
HP:0000508HP:0000508Ptosis0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional55
HP:0000508HP:0000508Ptosis0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome.4
HP:0000508HP:0000508Ptosis0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0000508HP:0000508Ptosis0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000508HP:0000508Ptosis0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional107
HP:0000508HP:0000508Ptosis0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000508HP:0000508Ptosis0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000508HP:0000508Ptosis0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000508HP:0000508Ptosis0ERBB2 CL E G H20643430OMIM:619465VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN277
HP:0000508HP:0000508Ptosis0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0000508HP:0000508Ptosis0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000508HP:0000508Ptosis0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0000508HP:0000508Ptosis0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly.92
HP:0000508HP:0000508Ptosis0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040283 - Occasional92
HP:0000508HP:0000508Ptosis0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0000508HP:0000508Ptosis0FAM149B1 CL E G H31766229162OMIM:618763JOUBERT SYNDROME 36; JBTS36
HP:0000508HP:0000508Ptosis0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000508HP:0000508Ptosis0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000508HP:0000508Ptosis0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000508HP:0000508Ptosis0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000508HP:0000508Ptosis0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000508HP:0000508Ptosis0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000508HP:0000508Ptosis0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000508HP:0000508Ptosis0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000508HP:0000508Ptosis0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000508HP:0000508Ptosis0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000508HP:0000508Ptosis0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0000508HP:0000508Ptosis0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0000508HP:0000508Ptosis0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000508HP:0000508Ptosis0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000508HP:0000508Ptosis0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent1361
HP:0000508HP:0000508Ptosis0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0000508HP:0000508Ptosis0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0000508HP:0000508Ptosis0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000508HP:0000508Ptosis0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0000508HP:0000508Ptosis0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0000508HP:0000508Ptosis0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0000508HP:0000508Ptosis0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0000508HP:0000508Ptosis0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:1540Jackson-Weiss syndromeHP:0040282 - Frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0000508HP:0000508Ptosis0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:53271Muenke syndromeHP:0040282 - Frequent145
HP:0000508HP:0000508Ptosis0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0000508HP:0000508Ptosis0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000508HP:0000508Ptosis0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional68
HP:0000508HP:0000508Ptosis0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000508HP:0000508Ptosis0FLNA CL E G H23163754OMIM:314400Cardiac valvular dysplasia, X-linkedHP:0040284 - Very rare493
HP:0000508HP:0000508Ptosis0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000508HP:0000508Ptosis0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia.493
HP:0000508HP:0000508Ptosis0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0000508HP:0000508Ptosis0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040282 - Frequent20
HP:0000508HP:0000508Ptosis0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000508HP:0000508Ptosis0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040281 - Very frequent92
HP:0000508HP:0000508Ptosis0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000508HP:0000508Ptosis0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0000508HP:0000508Ptosis0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0000508HP:0000508Ptosis0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare105
HP:0000508HP:0000508Ptosis0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0000508HP:0000508Ptosis0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0000508HP:0000508Ptosis0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0000508HP:0000508Ptosis0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0000508HP:0000508Ptosis0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0000508HP:0000508Ptosis0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitus237
HP:0000508HP:0000508Ptosis0GFER CL E G H26714236ORPHA:330054Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHP:0040282 - Frequent14
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0000508HP:0000508Ptosis0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0000508HP:0000508Ptosis0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0000508HP:0000508Ptosis0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000508HP:0000508Ptosis0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000508HP:0000508Ptosis0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000508HP:0000508Ptosis0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0000508HP:0000508Ptosis0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14HP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000508HP:0000508Ptosis0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000508HP:0000508Ptosis0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0GPRASP2 CL E G H11492825169OMIM:301018Deafness, X-linked 7.
HP:0000508HP:0000508Ptosis0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000508HP:0000508Ptosis0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000508HP:0000508Ptosis0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000508HP:0000508Ptosis0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000508HP:0000508Ptosis0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0000508HP:0000508Ptosis0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000508HP:0000508Ptosis0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0000508HP:0000508Ptosis0HEATR3 CL E G H5502726087OMIM:620072
HP:0000508HP:0000508Ptosis0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000508HP:0000508Ptosis0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0000508HP:0000508Ptosis0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000508HP:0000508Ptosis0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3.2
HP:0000508HP:0000508Ptosis0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000508HP:0000508Ptosis0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent55
HP:0000508HP:0000508Ptosis0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0000508HP:0000508Ptosis0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000508HP:0000508Ptosis0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000508HP:0000508Ptosis0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000508HP:0000508Ptosis0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040283 - Occasional31
HP:0000508HP:0000508Ptosis0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000508HP:0000508Ptosis0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0000508HP:0000508Ptosis0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000508HP:0000508Ptosis0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0000508HP:0000508Ptosis0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0000508HP:0000508Ptosis0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 128
HP:0000508HP:0000508Ptosis0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0000508HP:0000508Ptosis0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0000508HP:0000508Ptosis0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040283 - Occasional111
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0000508HP:0000508Ptosis0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional111
HP:0000508HP:0000508Ptosis0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitus62
HP:0000508HP:0000508Ptosis0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000508HP:0000508Ptosis0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0000508HP:0000508Ptosis0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0000508HP:0000508Ptosis0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000508HP:0000508Ptosis0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0000508HP:0000508Ptosis0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000508HP:0000508Ptosis0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000508HP:0000508Ptosis0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome.34
HP:0000508HP:0000508Ptosis0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040282 - Frequent34
HP:0000508HP:0000508Ptosis0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0000508HP:0000508Ptosis0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare80
HP:0000508HP:0000508Ptosis0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000508HP:0000508Ptosis0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0000508HP:0000508Ptosis0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndrome13
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H37676257ORPHA:79134DEND syndrome127
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0000508HP:0000508Ptosis0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitus127
HP:0000508HP:0000508Ptosis0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000508HP:0000508Ptosis0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000508HP:0000508Ptosis0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0000508HP:0000508Ptosis0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000508HP:0000508Ptosis0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0000508HP:0000508Ptosis0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000508HP:0000508Ptosis0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040283 - Occasional24
HP:0000508HP:0000508Ptosis0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000508HP:0000508Ptosis0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0000508HP:0000508Ptosis0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 193
HP:0000508HP:0000508Ptosis0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0000508HP:0000508Ptosis0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000508HP:0000508Ptosis0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare13
HP:0000508HP:0000508Ptosis0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0000508HP:0000508Ptosis0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0000508HP:0000508Ptosis0KMT2B CL E G H975715840OMIM:61993411
HP:0000508HP:0000508Ptosis0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0000508HP:0000508Ptosis0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2.196
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000508HP:0000508Ptosis0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000508HP:0000508Ptosis0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0000508HP:0000508Ptosis0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000508HP:0000508Ptosis0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000508HP:0000508Ptosis0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0000508HP:0000508Ptosis0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0000508HP:0000508Ptosis0LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHP:0040281 - Very frequent645
HP:0000508HP:0000508Ptosis0LMNA CL E G H40006636OMIM:212112Malouf syndromeHP:0040283 - Occasional645
HP:0000508HP:0000508Ptosis0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0000508HP:0000508Ptosis0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000508HP:0000508Ptosis0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040282 - Frequent8
HP:0000508HP:0000508Ptosis0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000508HP:0000508Ptosis0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696ORPHA:3258Cenani-Lenz syndromeHP:0040283 - Occasional124
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696OMIM:616304Myasthenic syndrome, congenital, 17.124
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0000508HP:0000508Ptosis0LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040282 - Frequent124
HP:0000508HP:0000508Ptosis0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000508HP:0000508Ptosis0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000508HP:0000508Ptosis0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0000508HP:0000508Ptosis0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome.21
HP:0000508HP:0000508Ptosis0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000508HP:0000508Ptosis0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000508HP:0000508Ptosis0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent178
HP:0000508HP:0000508Ptosis0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0000508HP:0000508Ptosis0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000508HP:0000508Ptosis0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0000508HP:0000508Ptosis0MARK3 CL E G H41406897OMIM:618283Visual impairment and progressive phthisis bulbi.
HP:0000508HP:0000508Ptosis0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040281 - Very frequent21
HP:0000508HP:0000508Ptosis0MASP1 CL E G H56486901OMIM:2579203mc syndrome 1.21
HP:0000508HP:0000508Ptosis0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0000508HP:0000508Ptosis0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000508HP:0000508Ptosis0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0000508HP:0000508Ptosis0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000508HP:0000508Ptosis0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000508HP:0000508Ptosis0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000508HP:0000508Ptosis0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000508HP:0000508Ptosis0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0000508HP:0000508Ptosis0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0000508HP:0000508Ptosis0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040283 - Occasional462
HP:0000508HP:0000508Ptosis0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000508HP:0000508Ptosis0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0000508HP:0000508Ptosis0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040282 - Frequent57
HP:0000508HP:0000508Ptosis0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0000508HP:0000508Ptosis0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0000508HP:0000508Ptosis0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional91
HP:0000508HP:0000508Ptosis0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040283 - Occasional127
HP:0000508HP:0000508Ptosis0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional127
HP:0000508HP:0000508Ptosis0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000508HP:0000508Ptosis0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0000508HP:0000508Ptosis0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000508HP:0000508Ptosis0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0000508HP:0000508Ptosis0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0000508HP:0000508Ptosis0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0000508HP:0000508Ptosis0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0000508HP:0000508Ptosis0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0000508HP:0000508Ptosis0MTSS2 CL E G H9215425094OMIM:620086
HP:0000508HP:0000508Ptosis0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0000508HP:0000508Ptosis0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000508HP:0000508Ptosis0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0000508HP:0000508Ptosis0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0000508HP:0000508Ptosis0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.HP:0003577 - Congenital onset
HP:0000508HP:0000508Ptosis0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0000508HP:0000508Ptosis0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegiaHP:0040283 - Occasional105
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573OMIM:618436Arthrogryposis, distal, type 2B3.166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166
HP:0000508HP:0000508Ptosis0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent166
HP:0000508HP:0000508Ptosis0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000508HP:0000508Ptosis0MYH8 CL E G H46267578OMIM:158300Arthrogryposis, distal, type 7.93
HP:0000508HP:0000508Ptosis0MYH8 CL E G H46267578ORPHA:3377Trismus-pseudocamptodactyly syndromeHP:0040283 - Occasional93
HP:0000508HP:0000508Ptosis0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0000508HP:0000508Ptosis0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent5
HP:0000508HP:0000508Ptosis0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000508HP:0000508Ptosis0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0000508HP:0000508Ptosis0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0000508HP:0000508Ptosis0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000508HP:0000508Ptosis0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare217
HP:0000508HP:0000508Ptosis0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000508HP:0000508Ptosis0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000508HP:0000508Ptosis0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent48
HP:0000508HP:0000508Ptosis0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0000508HP:0000508Ptosis0NARS2 CL E G H7973126274ORPHA:79134DEND syndrome34
HP:0000508HP:0000508Ptosis0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0000508HP:0000508Ptosis0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0000508HP:0000508Ptosis0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0000508HP:0000508Ptosis0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0000508HP:0000508Ptosis0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0000508HP:0000508Ptosis0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0000508HP:0000508Ptosis0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0000508HP:0000508Ptosis0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0000508HP:0000508Ptosis0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000508HP:0000508Ptosis0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0000508HP:0000508Ptosis0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0000508HP:0000508Ptosis0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0000508HP:0000508Ptosis0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0000508HP:0000508Ptosis0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathy31
HP:0000508HP:0000508Ptosis0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0000508HP:0000508Ptosis0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 16.34
HP:0000508HP:0000508Ptosis0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0000508HP:0000508Ptosis0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0000508HP:0000508Ptosis0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathy
HP:0000508HP:0000508Ptosis0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0000508HP:0000508Ptosis0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathy65
HP:0000508HP:0000508Ptosis0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0000508HP:0000508Ptosis0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0000508HP:0000508Ptosis0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000508HP:0000508Ptosis0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0000508HP:0000508Ptosis0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0000508HP:0000508Ptosis0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0000508HP:0000508Ptosis0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0000508HP:0000508Ptosis0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0000508HP:0000508Ptosis0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0000508HP:0000508Ptosis0NDUFV1 CL E G H47237716OMIM:618225Mitochondrial complex I deficiency, nuclear type 4.74
HP:0000508HP:0000508Ptosis0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0000508HP:0000508Ptosis0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000508HP:0000508Ptosis0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare745
HP:0000508HP:0000508Ptosis0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0000508HP:0000508Ptosis0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2EHP:0040283 - Occasional118
HP:0000508HP:0000508Ptosis0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040281 - Very frequent1952
HP:0000508HP:0000508Ptosis0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000508HP:0000508Ptosis0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0000508HP:0000508Ptosis0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000508HP:0000508Ptosis0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000508HP:0000508Ptosis0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000508HP:0000508Ptosis0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000508HP:0000508Ptosis0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000508HP:0000508Ptosis0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0000508HP:0000508Ptosis0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040281 - Very frequent144
HP:0000508HP:0000508Ptosis0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000508HP:0000508Ptosis0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000508HP:0000508Ptosis0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional85
HP:0000508HP:0000508Ptosis0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000508HP:0000508Ptosis0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000508HP:0000508Ptosis0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0000508HP:0000508Ptosis0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000508HP:0000508Ptosis0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000508HP:0000508Ptosis0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0000508HP:0000508Ptosis0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0000508HP:0000508Ptosis0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000508HP:0000508Ptosis0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000508HP:0000508Ptosis0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000508HP:0000508Ptosis0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0000508HP:0000508Ptosis0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000508HP:0000508Ptosis0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0000508HP:0000508Ptosis0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional214
HP:0000508HP:0000508Ptosis0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000508HP:0000508Ptosis0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy10
HP:0000508HP:0000508Ptosis0PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophyHP:0040281 - Very frequent10
HP:0000508HP:0000508Ptosis0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome24
HP:0000508HP:0000508Ptosis0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000508HP:0000508Ptosis0PAH CL E G H50538582ORPHA:2209Maternal phenylketonuria641
HP:0000508HP:0000508Ptosis0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000508HP:0000508Ptosis0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040283 - Occasional59
HP:0000508HP:0000508Ptosis0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000508HP:0000508Ptosis0PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040282 - Frequent194
HP:0000508HP:0000508Ptosis0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000508HP:0000508Ptosis0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000508HP:0000508Ptosis0PDGFRB CL E G H51598804OMIM:616592Kosaki overgrowth syndrome.28
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0000508HP:0000508Ptosis0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0000508HP:0000508Ptosis0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitus30
HP:0000508HP:0000508Ptosis0PDZD8 CL E G H11898726974OMIM:620021
HP:0000508HP:0000508Ptosis0PEPD CL E G H51848840OMIM:170100Prolidase deficiency.66
HP:0000508HP:0000508Ptosis0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0000508HP:0000508Ptosis0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent169
HP:0000508HP:0000508Ptosis0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent75
HP:0000508HP:0000508Ptosis0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent4
HP:0000508HP:0000508Ptosis0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent65
HP:0000508HP:0000508Ptosis0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent66
HP:0000508HP:0000508Ptosis0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent46
HP:0000508HP:0000508Ptosis0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent59
HP:0000508HP:0000508Ptosis0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent62
HP:0000508HP:0000508Ptosis0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent82
HP:0000508HP:0000508Ptosis0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent106
HP:0000508HP:0000508Ptosis0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent47
HP:0000508HP:0000508Ptosis0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent99
HP:0000508HP:0000508Ptosis0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040282 - Frequent98
HP:0000508HP:0000508Ptosis0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0000508HP:0000508Ptosis0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0000508HP:0000508Ptosis0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040282 - Frequent29
HP:0000508HP:0000508Ptosis0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0000508HP:0000508Ptosis0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000508HP:0000508Ptosis0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 26
HP:0000508HP:0000508Ptosis0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0000508HP:0000508Ptosis0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0000508HP:0000508Ptosis0PIBF1 CL E G H1046423352ORPHA:475Joubert syndromeHP:0040283 - Occasional4
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040281 - Very frequent77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000508HP:0000508Ptosis0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0000508HP:0000508Ptosis0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0000508HP:0000508Ptosis0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0000508HP:0000508Ptosis0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0000508HP:0000508Ptosis0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0000508HP:0000508Ptosis0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040283 - Occasional82
HP:0000508HP:0000508Ptosis0PLEC CL E G H53399069ORPHA:257Epidermolysis bullosa simplex with muscular dystrophyHP:0040282 - Frequent759
HP:0000508HP:0000508Ptosis0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0000508HP:0000508Ptosis0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000508HP:0000508Ptosis0PLXNA1 CL E G H53619099OMIM:619955
HP:0000508HP:0000508Ptosis0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0000508HP:0000508Ptosis0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0000508HP:0000508Ptosis0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent45
HP:0000508HP:0000508Ptosis0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0000508HP:0000508Ptosis0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000508HP:0000508Ptosis0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000508HP:0000508Ptosis0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000508HP:0000508Ptosis0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 3510
HP:0000508HP:0000508Ptosis0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0PRDX3 CL E G H109359354OMIM:619862
HP:0000508HP:0000508Ptosis0PREPL CL E G H958130228ORPHA:163690Hypotonia-cystinuria syndromeHP:0040281 - Very frequent7
HP:0000508HP:0000508Ptosis0PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 22.7
HP:0000508HP:0000508Ptosis0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000508HP:0000508Ptosis0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000508HP:0000508Ptosis0PSAP CL E G H56609498OMIM:610539Gaucher disease, atypical81
HP:0000508HP:0000508Ptosis0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000508HP:0000508Ptosis0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000508HP:0000508Ptosis0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000508HP:0000508Ptosis0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0000508HP:0000508Ptosis0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0000508HP:0000508Ptosis0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0000508HP:0000508Ptosis0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0000508HP:0000508Ptosis0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000508HP:0000508Ptosis0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000508HP:0000508Ptosis0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000508HP:0000508Ptosis0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000508HP:0000508Ptosis0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000508HP:0000508Ptosis0RAD21 CL E G H58859811OMIM:611376Mungan syndrome25
HP:0000508HP:0000508Ptosis0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000508HP:0000508Ptosis0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000508HP:0000508Ptosis0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000508HP:0000508Ptosis0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000508HP:0000508Ptosis0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000508HP:0000508Ptosis0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0000508HP:0000508Ptosis0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0000508HP:0000508Ptosis0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0000508HP:0000508Ptosis0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiencyHP:0040283 - Occasional10
HP:0000508HP:0000508Ptosis0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0000508HP:0000508Ptosis0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000508HP:0000508Ptosis0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040281 - Very frequent3
HP:0000508HP:0000508Ptosis0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000508HP:0000508Ptosis0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000508HP:0000508Ptosis0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000508HP:0000508Ptosis0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0000508HP:0000508Ptosis0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0000508HP:0000508Ptosis0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0000508HP:0000508Ptosis0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0000508HP:0000508Ptosis0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H2332229168OMIM:611560Joubert syndrome 7.167
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0000508HP:0000508Ptosis0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional167
HP:0000508HP:0000508Ptosis0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000508HP:0000508Ptosis0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000508HP:0000508Ptosis0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000508HP:0000508Ptosis0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000508HP:0000508Ptosis0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000508HP:0000508Ptosis0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000508HP:0000508Ptosis0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000508HP:0000508Ptosis0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0000508HP:0000508Ptosis0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0000508HP:0000508Ptosis0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0000508HP:0000508Ptosis0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0000508HP:0000508Ptosis0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0000508HP:0000508Ptosis0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0000508HP:0000508Ptosis0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000508HP:0000508Ptosis0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0000508HP:0000508Ptosis0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000508HP:0000508Ptosis0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000508HP:0000508Ptosis0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000508HP:0000508Ptosis0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0000508HP:0000508Ptosis0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0000508HP:0000508Ptosis0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000508HP:0000508Ptosis0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0000508HP:0000508Ptosis0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent125
HP:0000508HP:0000508Ptosis0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0000508HP:0000508Ptosis0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5HP:0040283 - Occasional125
HP:0000508HP:0000508Ptosis0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0000508HP:0000508Ptosis0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0000508HP:0000508Ptosis0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0000508HP:0000508Ptosis0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0000508HP:0000508Ptosis0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000508HP:0000508Ptosis0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0000508HP:0000508Ptosis0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0000508HP:0000508Ptosis0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0000508HP:0000508Ptosis0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000508HP:0000508Ptosis0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0000508HP:0000508Ptosis0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000508HP:0000508Ptosis0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000508HP:0000508Ptosis0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0000508HP:0000508Ptosis0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0000508HP:0000508Ptosis0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16.263
HP:0000508HP:0000508Ptosis0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0000508HP:0000508Ptosis0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0000508HP:0000508Ptosis0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0000508HP:0000508Ptosis0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathy40
HP:0000508HP:0000508Ptosis0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0000508HP:0000508Ptosis0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0000508HP:0000508Ptosis0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0000508HP:0000508Ptosis0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0000508HP:0000508Ptosis0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0000508HP:0000508Ptosis0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000508HP:0000508Ptosis0SEPTIN9 CL E G H108017323OMIM:162100Amyotrophy, hereditary neuralgic.
HP:0000508HP:0000508Ptosis0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000508HP:0000508Ptosis0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0000508HP:0000508Ptosis0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000508HP:0000508Ptosis0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0000508HP:0000508Ptosis0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0000508HP:0000508Ptosis0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000508HP:0000508Ptosis0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0000508HP:0000508Ptosis0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000508HP:0000508Ptosis0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000508HP:0000508Ptosis0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000508HP:0000508Ptosis0SIX2 CL E G H1073610888ORPHA:488437SIX2-related frontonasal dysplasiaHP:0040281 - Very frequent2
HP:0000508HP:0000508Ptosis0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000508HP:0000508Ptosis0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040282 - Frequent150
HP:0000508HP:0000508Ptosis0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000508HP:0000508Ptosis0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0000508HP:0000508Ptosis0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0000508HP:0000508Ptosis0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0000508HP:0000508Ptosis0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0000508HP:0000508Ptosis0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0000508HP:0000508Ptosis0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0000508HP:0000508Ptosis0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0000508HP:0000508Ptosis0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0000508HP:0000508Ptosis0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000508HP:0000508Ptosis0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0000508HP:0000508Ptosis0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0000508HP:0000508Ptosis0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent68
HP:0000508HP:0000508Ptosis0SLC25A4 CL E G H29110990OMIM:609283Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2.68
HP:0000508HP:0000508Ptosis0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0000508HP:0000508Ptosis0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0SLC3A1 CL E G H651911025ORPHA:163690Hypotonia-cystinuria syndromeHP:0040281 - Very frequent55
HP:0000508HP:0000508Ptosis0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0000508HP:0000508Ptosis0SLC52A3 CL E G H11327816187OMIM:211500Bulbar palsy, progressive, of childhood.51
HP:0000508HP:0000508Ptosis0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0000508HP:0000508Ptosis0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0000508HP:0000508Ptosis0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000508HP:0000508Ptosis0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040283 - Occasional122
HP:0000508HP:0000508Ptosis0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0000508HP:0000508Ptosis0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominantHP:0040283 - Occasional13
HP:0000508HP:0000508Ptosis0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040282 - Frequent13
HP:0000508HP:0000508Ptosis0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000508HP:0000508Ptosis0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0000508HP:0000508Ptosis0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000508HP:0000508Ptosis0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0000508HP:0000508Ptosis0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0000508HP:0000508Ptosis0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0000508HP:0000508Ptosis0SMARCB1 CL E G H659811103OMIM:614608Coffin-Siris syndrome 387
HP:0000508HP:0000508Ptosis0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0000508HP:0000508Ptosis0SMARCC2 CL E G H660111105OMIM:618362Coffin-Siris syndrome 8.1
HP:0000508HP:0000508Ptosis0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0000508HP:0000508Ptosis0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 547
HP:0000508HP:0000508Ptosis0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000508HP:0000508Ptosis0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0000508HP:0000508Ptosis0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000508HP:0000508Ptosis0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000508HP:0000508Ptosis0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000508HP:0000508Ptosis0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000508HP:0000508Ptosis0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000508HP:0000508Ptosis0SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional19
HP:0000508HP:0000508Ptosis0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0000508HP:0000508Ptosis0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0000508HP:0000508Ptosis0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000508HP:0000508Ptosis0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000508HP:0000508Ptosis0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000508HP:0000508Ptosis0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0000508HP:0000508Ptosis0SOST CL E G H5096413771ORPHA:3152SclerosteosisHP:0040282 - Frequent26
HP:0000508HP:0000508Ptosis0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0000508HP:0000508Ptosis0SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional61
HP:0000508HP:0000508Ptosis0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0000508HP:0000508Ptosis0SOX11 CL E G H666411191OMIM:615866Mental retardation, autosomal dominant 27.14
HP:0000508HP:0000508Ptosis0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000508HP:0000508Ptosis0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0000508HP:0000508Ptosis0SPR CL E G H669711257ORPHA:70594Dopa-responsive dystonia due to sepiapterin reductase deficiencyHP:0040282 - Frequent28
HP:0000508HP:0000508Ptosis0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000508HP:0000508Ptosis0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000508HP:0000508Ptosis0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare62
HP:0000508HP:0000508Ptosis0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0000508HP:0000508Ptosis0STAC3 CL E G H24632928423ORPHA:168572Native American myopathy14
HP:0000508HP:0000508Ptosis0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0000508HP:0000508Ptosis0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitus110
HP:0000508HP:0000508Ptosis0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0000508HP:0000508Ptosis0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0000508HP:0000508Ptosis0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0000508HP:0000508Ptosis0SUFU CL E G H5168416466ORPHA:475Joubert syndromeHP:0040283 - Occasional124
HP:0000508HP:0000508Ptosis0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathy73
HP:0000508HP:0000508Ptosis0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0000508HP:0000508Ptosis0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0000508HP:0000508Ptosis0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional1129
HP:0000508HP:0000508Ptosis0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0000508HP:0000508Ptosis0SYNE1 CL E G H2334517089OMIM:610743Spinocerebellar ataxia, autosomal recessive 8.1129
HP:0000508HP:0000508Ptosis0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional508
HP:0000508HP:0000508Ptosis0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0000508HP:0000508Ptosis0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0000508HP:0000508Ptosis0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0000508HP:0000508Ptosis0SZT2 CL E G H2333429040OMIM:615476Epileptic encephalopathy, early infantile, 18.123
HP:0000508HP:0000508Ptosis0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0000508HP:0000508Ptosis0TAB2 CL E G H2311817075ORPHA:228410Polyvalvular heart disease syndromeHP:0040282 - Frequent11
HP:0000508HP:0000508Ptosis0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0000508HP:0000508Ptosis0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0000508HP:0000508Ptosis0TAF8 CL E G H12968517300OMIM:619972
HP:0000508HP:0000508Ptosis0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare65
HP:0000508HP:0000508Ptosis0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000508HP:0000508Ptosis0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0000508HP:0000508Ptosis0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000508HP:0000508Ptosis0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare20
HP:0000508HP:0000508Ptosis0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000508HP:0000508Ptosis0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0000508HP:0000508Ptosis0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 3HP:0040283 - Occasional28
HP:0000508HP:0000508Ptosis0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0000508HP:0000508Ptosis0TCTN1 CL E G H7960026113ORPHA:475Joubert syndromeHP:0040283 - Occasional45
HP:0000508HP:0000508Ptosis0TCTN2 CL E G H7986725774ORPHA:475Joubert syndromeHP:0040283 - Occasional76
HP:0000508HP:0000508Ptosis0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000508HP:0000508Ptosis0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000508HP:0000508Ptosis0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndromeHP:0040283 - Occasional12
HP:0000508HP:0000508Ptosis0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000508HP:0000508Ptosis0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040281 - Very frequent104
HP:0000508HP:0000508Ptosis0TFAP2B CL E G H702111743OMIM:169100Char syndrome.104
HP:0000508HP:0000508Ptosis0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000508HP:0000508Ptosis0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0000508HP:0000508Ptosis0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000508HP:0000508Ptosis0TGIF1 CL E G H705011776OMIM:142946Holoprosencephaly 4.32
HP:0000508HP:0000508Ptosis0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0000508HP:0000508Ptosis0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0000508HP:0000508Ptosis0THUMPD1 CL E G H5562323807OMIM:619989
HP:0000508HP:0000508Ptosis0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0000508HP:0000508Ptosis0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0000508HP:0000508Ptosis0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0000508HP:0000508Ptosis0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0000508HP:0000508Ptosis0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000508HP:0000508Ptosis0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0000508HP:0000508Ptosis0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0000508HP:0000508Ptosis0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0000508HP:0000508Ptosis0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000508HP:0000508Ptosis0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000508HP:0000508Ptosis0TMEM218 CL E G H21985427344ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000508HP:0000508Ptosis0TMEM237 CL E G H6506214432ORPHA:475Joubert syndromeHP:0040283 - Occasional82
HP:0000508HP:0000508Ptosis0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0000508HP:0000508Ptosis0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000508HP:0000508Ptosis0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defectHP:0040283 - Occasional82
HP:0000508HP:0000508Ptosis0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional171
HP:0000508HP:0000508Ptosis0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0000508HP:0000508Ptosis0TMEM67 CL E G H9114728396ORPHA:475Joubert syndromeHP:0040283 - Occasional166
HP:0000508HP:0000508Ptosis0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0000508HP:0000508Ptosis0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0000508HP:0000508Ptosis0TMEM67 CL E G H9114728396ORPHA:140976RHYNS syndromeHP:0040281 - Very frequent166
HP:0000508HP:0000508Ptosis0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000508HP:0000508Ptosis0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0000508HP:0000508Ptosis0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0000508HP:0000508Ptosis0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0000508HP:0000508Ptosis0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0000508HP:0000508Ptosis0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare54
HP:0000508HP:0000508Ptosis0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0000508HP:0000508Ptosis0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0000508HP:0000508Ptosis0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040284 - Very rare108
HP:0000508HP:0000508Ptosis0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0000508HP:0000508Ptosis0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0000508HP:0000508Ptosis0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0000508HP:0000508Ptosis0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000508HP:0000508Ptosis0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0000508HP:0000508Ptosis0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0000508HP:0000508Ptosis0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0000508HP:0000508Ptosis0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0000508HP:0000508Ptosis0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0000508HP:0000508Ptosis0TTN CL E G H727312403OMIM:611705Salih myopathy.7128
HP:0000508HP:0000508Ptosis0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0000508HP:0000508Ptosis0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0000508HP:0000508Ptosis0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0000508HP:0000508Ptosis0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0000508HP:0000508Ptosis0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0000508HP:0000508Ptosis0TUBB6 CL E G H8461720776OMIM:617732Facial palsy, congenital, with ptosis and velopharyngeal dysfunction.
HP:0000508HP:0000508Ptosis0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0000508HP:0000508Ptosis0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0000508HP:0000508Ptosis0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040281 - Very frequent113
HP:0000508HP:0000508Ptosis0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0000508HP:0000508Ptosis0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0000508HP:0000508Ptosis0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0000508HP:0000508Ptosis0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0000508HP:0000508Ptosis0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0000508HP:0000508Ptosis0TYMS CL E G H729812441OMIM:6200401
HP:0000508HP:0000508Ptosis0TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2HP:0040283 - Occasional146
HP:0000508HP:0000508Ptosis0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0000508HP:0000508Ptosis0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000508HP:0000508Ptosis0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000508HP:0000508Ptosis0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000508HP:0000508Ptosis0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000508HP:0000508Ptosis0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000508HP:0000508Ptosis0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0000508HP:0000508Ptosis0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0000508HP:0000508Ptosis0VAMP1 CL E G H684312642OMIM:108600Spastic ataxia 1, autosomal dominant.2
HP:0000508HP:0000508Ptosis0VARS2 CL E G H5717621642OMIM:615917Combined oxidative phosphorylation deficiency 20HP:0040283 - Occasional56
HP:0000508HP:0000508Ptosis0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040284 - Very rare63
HP:0000508HP:0000508Ptosis0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040283 - Occasional10
HP:0000508HP:0000508Ptosis0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0000508HP:0000508Ptosis0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0000508HP:0000508Ptosis0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0000508HP:0000508Ptosis0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0000508HP:0000508Ptosis0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000508HP:0000508Ptosis0WT1 CL E G H749012796ORPHA:893WAGR syndromeHP:0040282 - Frequent177
HP:0000508HP:0000508Ptosis0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0000508HP:0000508Ptosis0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000508HP:0000508Ptosis0YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardationHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040283 - Occasional2
HP:0000508HP:0000508Ptosis0YARS2 CL E G H5106724249OMIM:613561Myopathy, lactic acidosis, and sideroblastic anemia 2.45
HP:0000508HP:0000508Ptosis0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000508HP:0000508Ptosis0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000508HP:0000508Ptosis0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000508HP:0000508Ptosis0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000508HP:0000508Ptosis0ZC4H2 CL E G H5590624931ORPHA:3454Intellectual disability-developmental delay-contractures syndromeHP:0040283 - Occasional19
HP:0000508HP:0000508Ptosis0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0000508HP:0000508Ptosis0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000508HP:0000508Ptosis0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000508HP:0000508Ptosis0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000508HP:0000508Ptosis0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000508HP:0000508Ptosis0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000508HP:0000508Ptosis0ZFHX4 CL E G H7977630939OMIM:178300Ptosis, hereditary congenital 1
HP:0000508HP:0000508Ptosis0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 6HP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0000508HP:0000508Ptosis0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000508HP:0000508Ptosis0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 30.24
HP:0000508HP:0000508Ptosis0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000508HP:0000508Ptosis0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49
HP:0000508HP:0000508Ptosis0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0000508HP:0000508Ptosis0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000508HP:0000508Ptosis0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosisHP:0040283 - Occasional5
HP:0000508HP:0000508Ptosis0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040283 - Occasional5
HP:0000508HP:0001488Bilateral ptosis1ABCC8 CL E G H683359ORPHA:79134DEND syndromeHP:0040283 - Occasional245
HP:0000508HP:0001488Bilateral ptosis1ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0000508HP:0001488Bilateral ptosis1ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0000508HP:0001488Bilateral ptosis1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000508HP:0001488Bilateral ptosis1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000508HP:0001488Bilateral ptosis1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000508HP:0007687Unilateral ptosis1ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000508HP:0001488Bilateral ptosis1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000508HP:0001488Bilateral ptosis1AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000508HP:0007970Congenital ptosis1BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0000508HP:0007687Unilateral ptosis1CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000508HP:0001488Bilateral ptosis1CDC42BPB CL E G H95781738OMIM:619841
HP:0000508HP:0001488Bilateral ptosis1CERT1 CL E G H100872205OMIM:616351Mental retardation, autosomal dominant 34.
HP:0000508HP:0001488Bilateral ptosis1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0000508HP:0001488Bilateral ptosis1CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000508HP:0007687Unilateral ptosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0007970Congenital ptosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0002277Horner syndrome1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0001488Bilateral ptosis1COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0001488Bilateral ptosis1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040283 - Occasional284
HP:0000508HP:0001488Bilateral ptosis1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0000508HP:0001488Bilateral ptosis1DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040281 - Very frequent80
HP:0000508HP:0007687Unilateral ptosis1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000508HP:0001488Bilateral ptosis1DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0000508HP:0007970Congenital ptosis1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0000508HP:0001488Bilateral ptosis1DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0000508HP:0001488Bilateral ptosis1FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000508HP:0001488Bilateral ptosis1GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent237
HP:0000508HP:0007838Progressive ptosis1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000508HP:0002277Horner syndrome1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000508HP:0001488Bilateral ptosis1GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040281 - Very frequent53
HP:0000508HP:0007687Unilateral ptosis1HEATR3 CL E G H5502726087OMIM:620072
HP:0000508HP:0007687Unilateral ptosis1HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0000508HP:0001488Bilateral ptosis1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0000508HP:0007970Congenital ptosis1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0000508HP:0001488Bilateral ptosis1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiency91
HP:0000508HP:0001488Bilateral ptosis1INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent62
HP:0000508HP:0001488Bilateral ptosis1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0000508HP:0001488Bilateral ptosis1KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040282 - Frequent13
HP:0000508HP:0001488Bilateral ptosis1KCNJ11 CL E G H37676257ORPHA:79134DEND syndromeHP:0040283 - Occasional127
HP:0000508HP:0001488Bilateral ptosis1KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0000508HP:0001488Bilateral ptosis1KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0000508HP:0001488Bilateral ptosis1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000508HP:0001488Bilateral ptosis1KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 153
HP:0000508HP:0002277Horner syndrome1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0000508HP:0001488Bilateral ptosis1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0000508HP:0001488Bilateral ptosis1KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1660
HP:0000508HP:0001488Bilateral ptosis1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0000508HP:0001488Bilateral ptosis1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0000508HP:0001488Bilateral ptosis1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000508HP:0007687Unilateral ptosis1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000508HP:0007687Unilateral ptosis1MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0000508HP:0001488Bilateral ptosis1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000508HP:0001488Bilateral ptosis1NARS2 CL E G H7973126274ORPHA:79134DEND syndromeHP:0040283 - Occasional34
HP:0000508HP:0001488Bilateral ptosis1NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0000508HP:0001488Bilateral ptosis1NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0000508HP:0001488Bilateral ptosis1NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0000508HP:0001488Bilateral ptosis1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0000508HP:0007838Progressive ptosis1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040281 - Very frequent
HP:0000508HP:0001488Bilateral ptosis1NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000508HP:0001488Bilateral ptosis1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000508HP:0001488Bilateral ptosis1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0000508HP:0001488Bilateral ptosis1OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000508HP:0001488Bilateral ptosis1OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0000508HP:0007838Progressive ptosis1PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0000508HP:0001488Bilateral ptosis1PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0000508HP:0001488Bilateral ptosis1PAH CL E G H50538582ORPHA:2209Maternal phenylketonuriaHP:0040284 - Very rare641
HP:0000508HP:0001488Bilateral ptosis1PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000508HP:0001488Bilateral ptosis1PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0000508HP:0001488Bilateral ptosis1PDZD8 CL E G H11898726974OMIM:620021
HP:0000508HP:0001488Bilateral ptosis1PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 2.6
HP:0000508HP:0001488Bilateral ptosis1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0000508HP:0001488Bilateral ptosis1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0000508HP:0001488Bilateral ptosis1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000508HP:0007687Unilateral ptosis1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000508HP:0001488Bilateral ptosis1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0000508HP:0001488Bilateral ptosis1RAD21 CL E G H58859811OMIM:611376Mungan syndrome.25
HP:0000508HP:0001488Bilateral ptosis1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0000508HP:0001488Bilateral ptosis1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0000508HP:0001488Bilateral ptosis1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000508HP:0001488Bilateral ptosis1SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0000508HP:0001488Bilateral ptosis1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040282 - Frequent43
HP:0000508HP:0007687Unilateral ptosis1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000508HP:0007687Unilateral ptosis1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000508HP:0001488Bilateral ptosis1SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000508HP:0001488Bilateral ptosis1SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type6
HP:0000508HP:0001488Bilateral ptosis1STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040282 - Frequent14
HP:0000508HP:0001488Bilateral ptosis1STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent110
HP:0000508HP:0001488Bilateral ptosis1SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0000508HP:0001488Bilateral ptosis1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0000508HP:0001488Bilateral ptosis1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040283 - Occasional103
HP:0000508HP:0007970Congenital ptosis1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000508HP:0001488Bilateral ptosis1TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0000508HP:0001488Bilateral ptosis1TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0000508HP:0001488Bilateral ptosis1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0000508HP:0001488Bilateral ptosis1TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0000508HP:0001488Bilateral ptosis1TYMS CL E G H729812441OMIM:6200401
HP:0000508HP:0007687Unilateral ptosis1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0000508HP:0001488Bilateral ptosis1WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000508HP:0007970Congenital ptosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000508HP:0007687Unilateral ptosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000508HP:0001488Bilateral ptosis1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000508HP:0002277Horner syndrome1ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000508HP:0007970Congenital ptosis1ZFHX4 CL E G H7977630939OMIM:178300Ptosis, hereditary congenital 1.
HP:0000508HP:0001488Bilateral ptosis1ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0000508HP:0006837Congenital Horner syndrome2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0007911Congenital bilateral ptosis2COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000508HP:0006837Congenital Horner syndrome2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000508HP:0007911Congenital bilateral ptosis2IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0000508HP:0006837Congenital Horner syndrome2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000508HP:0007911Congenital bilateral ptosis2ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis


Genes (716) :AARS1 ABCC8 ABHD5 ACBD5 ACKR3 ACTA1 ACTB ACTG1 ACTL6B ADA2 ADAR ADNP ADPRS AEBP1 AFF4 AFG3L2 AGRN AHDC1 AHI1 AIP AK9 AKT1 ALDH18A1 ALDOA ALG14 ALG2 ALX1 ALX3 ANAPC7 ANKLE2 ANKRD11 ANO10 ANOS1 ANXA11 AP3B2 APC ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARV1 ARVCF ASXL2 ATG7 ATP1A2 ATP1A3 ATP6V1A ATP6V1B2 ATRX ATXN3 AUTS2 B3GLCT B9D1 B9D2 BAP1 BCAS3 BCOR BCS1L BDNF BIN1 BPTF BRAF BRCA1 BRCA2 BRCC3 BRD4 BRIP1 BRPF1 C1QBP C9ORF72 CACNA1A CACNA1B CACNA2D1 CAPN15 CBL CBY1 CC2D2A CCDC115 CCDC141 CCDC47 CDC42 CDC42BPB CDH11 CDH23 CDK13 CDK19 CDK8 CELF2 CEP104 CEP120 CEP290 CEP41 CERT1 CFL2 CHAT CHCHD10 CHD4 CHD7 CHD8 CHN1 CHRNA1 CHRNB1 CHRND CHRNE CHRNG CLCN3 CLTC CNKSR2 CNP CNTNAP1 COA8 COL13A1 COL1A2 COL25A1 COL2A1 COL3A1 COL9A3 COLEC10 COLEC11 COLQ COMT COQ2 COX10 COX15 CPLANE1 CPLX1 CREBBP CSNK2A1 CSPP1 CTBP1 CYC1 CYFIP2 DALRD3 DARS2 DBH DCC DCHS1 DDC DDX59 DGUOK DHCR7 DHDDS DHX37 DIS3L2 DLAT DNA2 DNM1 DNM1L DNM2 DOK7 DPAGT1 DPF2 DUSP6 DVL1 DVL3 EARS2 ECEL1 ECHS1 EDEM3 EDN1 EDNRB EED EEF1A2 ELN EMD EP300 EPG5 ERBB2 ERBB3 ERCC4 ERF ESCO2 EXOC8 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAT4 FBLN5 FBN1 FBXL3 FDX2 FEZF1 FGD1 FGF10 FGF12 FGF13 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FLI1 FLNA FLRT3 FOXC2 FOXL2 FOXP1 FOXRED1 FUS FZD2 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GATA1 GATA3 GBA1 GCK GFER GFPT1 GIPC1 GLE1 GLI3 GMPPA GMPPB GNAI3 GNB2 GP1BB GPC4 GPRASP2 GRIA3 GRIN2D GRM1 GSN H4C3 HCN1 HDAC8 HEATR3 HECW2 HESX1 HIRA HLA-B HLA-DRB1 HMGB3 HNRNPK HOXB1 HPGD HRAS HS6ST1 HSPG2 HUWE1 HYLS1 IARS2 IDS IDUA IER3IP1 IFIH1 IGF1 IL17RD INPP5E INS IPO8 IREB2 ISCU ITCH JAG2 JMJD1C KANSL1 KAT6A KATNIP KBTBD13 KCNA2 KCNB1 KCNH1 KCNJ11 KCNN2 KDM1A KDM5B KDM6A KIAA0586 KIF11 KIF1B KIF21A KIF5A KIFBP KITLG KLHL41 KMT2A KMT2B KMT2D KRAS LAMB2 LETM1 LGI4 LIG3 LIG4 LIPT1 LMNA LMOD3 LMX1B LONP1 LRP12 LRP4 LSM11 LYRM7 LZTR1 MAD2L2 MAF MAFB MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MARK3 MASP1 MCM5 MECP2 MED12 MED12L MED13L MED25 MEN1 MGME1 MICU1 MID1 MID2 MINPP1 MITF MKS1 MRAS MRPS28 MRPS34 MTFMT MTMR14 MTRFR MTSS2 MTTP MUSK MYF5 MYF6 MYH2 MYH3 MYH7 MYH8 MYL2 MYMK MYMX MYO18B MYO9A MYOD1 MYPN NAA10 NALCN NARS2 ND1 ND2 ND3 NDNF NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECAP1 NEFL NELFA NF1 NGLY1 NIPBL NOG NOP56 NOTCH2NLC NOTCH3 NOVA2 NPHP1 NRAS NSD2 NSUN2 NTRK2 NUBPL NUS1 NUTM2B-AS1 NXN ODC1 OGDHL OPA1 P4HA2 PABPN1 PACS1 PAH PALB2 PARS2 PAX3 PAX6 PAX7 PDE4D PDGFRB PDHA1 PDX1 PDZD8 PEPD PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHF6 PHIP PHOX2A PHYH PIBF1 PIEZO2 PIGG PIGL PIGQ PIK3R2 PLCB4 PLEC PLOD1 PLXNA1 PLXND1 POLG POLG2 POLRMT PPP1CB PPP1R12A PPP2R5D PPP3CA PRDX3 PREPL PROK2 PROKR2 PRPS1 PRR12 PSAP PSMD12 PTEN PTPN11 PTPN22 PTS PUF60 PUM1 PURA PYROXD1 QRICH1 RAB3GAP1 RAD21 RAD51 RAD51C RAF1 RALA RAPSN RASA2 RB1 RBCK1 RBM8A RERE REV3L RFWD3 RILPL1 RIT1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROR2 RPGRIP1L RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RRAS RRAS2 RREB1 RRM2B RSPRY1 RYR1 SALL4 SAMHD1 SBF2 SC5D SCN3A SCN4A SCN8A SCO2 SDHA SEC24C SECISBP2 SELENON SEMA3A SEMA3E SEPTIN9 SETBP1 SETD5 SF3B2 SF3B4 SGPL1 SHANK3 SHOC2 SIAH1 SIX2 SKI SLC12A6 SLC13A5 SLC17A5 SLC18A2 SLC18A3 SLC19A3 SLC1A2 SLC25A1 SLC25A4 SLC30A9 SLC38A3 SLC3A1 SLC52A3 SLC5A7 SLC6A8 SLC6A9 SLCO2A1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMS SNAI2 SNAP25 SOS1 SOS2 SOST SOX10 SOX11 SOX4 SPECC1L SPR SPRED1 SPRED2 SPRY4 SQSTM1 STAC3 STAMBP STAT3 SUCLA2 SUCLG1 SUFU SURF1 SYNE1 SYNE2 SYNGAP1 SYNJ1 SYT2 SZT2 TAB2 TACO1 TACR3 TAF8 TARDBP TBC1D20 TBC1D24 TBC1D2B TBK1 TBX1 TCF12 TCOF1 TCTN1 TCTN2 TENM3 TET3 TFAP2A TFAP2B TFE3 TGFB2 TGFB3 TGIF1 TH THUMPD1 TIMMDC1 TK2 TLK2 TMCO1 TMEM107 TMEM126B TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM43 TMEM67 TOGARAM1 TOP3A TOR1A TP63 TPM2 TPM3 TRAF7 TRAK1 TREX1 TRIO TRNL1 TRNL2 TRNN TRNS1 TSPOAP1 TSR2 TTN TUBA1A TUBB2B TUBB3 TUBB6 TWIST1 TWNK TYMP TYMS TYR UBA1 UBA5 UBE2T UBE3B UBR7 UFD1 UGDH UNC80 VAMP1 VARS2 VCP WDR11 WDR35 WDR73 WFS1 WNT5A WT1 WWOX XRCC2 YAP1 YARS2 YWHAG YY1 ZBTB20 ZC4H2 ZEB2 ZFHX4 ZIC1 ZMIZ1 ZMYND11 ZNF407 ZNF423 ZNF462 ZNF699 ZSWIM6

Diseases (601) :ORPHA:442835 ORPHA:79134 ORPHA:99885 ORPHA:98907 OMIM:618863 OMIM:619215 ORPHA:171439 OMIM:255310 ORPHA:171436 ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:124 ORPHA:51 ORPHA:404448 OMIM:615873 OMIM:618170 ORPHA:536532 OMIM:618000 ORPHA:444077 ORPHA:313772 OMIM:614487 OMIM:610246 ORPHA:101109 OMIM:615120 ORPHA:98913 ORPHA:98914 OMIM:615829 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:2965 ORPHA:744 OMIM:176920 ORPHA:90348 OMIM:611881 ORPHA:353327 OMIM:616227 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:619699 OMIM:616681 OMIM:148050 ORPHA:284289 ORPHA:478 OMIM:619733 ORPHA:3258 OMIM:617523 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:612291 OMIM:618161 OMIM:617622 ORPHA:567 OMIM:617190 OMIM:619422 ORPHA:79500 OMIM:309580 OMIM:109150 ORPHA:352490 OMIM:615834 OMIM:261540 OMIM:614175 OMIM:619762 OMIM:619641 OMIM:309800 OMIM:300166 ORPHA:2712 OMIM:124000 ORPHA:893 ORPHA:169189 OMIM:255200 ORPHA:529962 ORPHA:1340 OMIM:115150 OMIM:163950 ORPHA:500 ORPHA:84 ORPHA:280679 ORPHA:199 OMIM:617333 OMIM:617713 ORPHA:275872 OMIM:619318 ORPHA:648 OMIM:613563 ORPHA:1454 ORPHA:2318 OMIM:616828 OMIM:618268 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:619736 ORPHA:91347 OMIM:617360 OMIM:618748 OMIM:610188 OMIM:616351 OMIM:254210 OMIM:615911 OMIM:617159 OMIM:214800 ORPHA:138 OMIM:615032 ORPHA:233 OMIM:601462 OMIM:608930 OMIM:616313 OMIM:616321 OMIM:616322 OMIM:616323 OMIM:605809 OMIM:616324 OMIM:608931 ORPHA:2990 OMIM:265000 OMIM:619512 OMIM:617854 OMIM:619071 OMIM:618186 ORPHA:436271 OMIM:616720 ORPHA:230851 ORPHA:91411 OMIM:616219 ORPHA:485 ORPHA:286 OMIM:620022 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:603034 ORPHA:98915 OMIM:146500 OMIM:619046 ORPHA:255241 ORPHA:280 OMIM:194190 OMIM:618332 OMIM:180849 ORPHA:353277 OMIM:617062 OMIM:615636 OMIM:615453 ORPHA:137898 ORPHA:230 OMIM:223360 OMIM:601390 OMIM:608643 OMIM:174300 ORPHA:329314 OMIM:617070 OMIM:270400 ORPHA:818 OMIM:618731 ORPHA:2849 OMIM:245348 ORPHA:352470 OMIM:615156 ORPHA:98673 ORPHA:330050 OMIM:160150 OMIM:254300 OMIM:614750 ORPHA:3107 OMIM:614924 OMIM:615065 OMIM:619493 ORPHA:137888 ORPHA:895 OMIM:617561 ORPHA:98863 ORPHA:353284 OMIM:242840 OMIM:619465 OMIM:243180 ORPHA:207 OMIM:216100 ORPHA:2319 OMIM:619076 OMIM:618763 ORPHA:438178 OMIM:616154 ORPHA:466722 OMIM:615546 ORPHA:2462 OMIM:606220 OMIM:251900 OMIM:305400 ORPHA:915 ORPHA:2363 ORPHA:2117 OMIM:123790 ORPHA:1555 ORPHA:1540 ORPHA:794 OMIM:101400 ORPHA:93262 OMIM:602849 ORPHA:53271 ORPHA:2308 OMIM:314400 ORPHA:555877 OMIM:300244 OMIM:153400 ORPHA:33001 OMIM:110100 ORPHA:572333 ORPHA:391372 ORPHA:2609 OMIM:146255 ORPHA:2072 ORPHA:330054 OMIM:610542 ORPHA:98897 OMIM:618940 OMIM:611890 ORPHA:672 OMIM:615510 OMIM:615351 OMIM:619503 ORPHA:2662 OMIM:301018 ORPHA:364028 ORPHA:324262 OMIM:614831 ORPHA:85448 OMIM:619758 OMIM:300882 OMIM:620072 OMIM:617268 ORPHA:397 OMIM:300915 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:614744 OMIM:259100 ORPHA:2796 OMIM:218040 ORPHA:800 OMIM:255800 OMIM:309590 OMIM:616007 OMIM:309900 OMIM:607014 OMIM:614231 OMIM:182250 ORPHA:73272 OMIM:608747 OMIM:213300 OMIM:619472 OMIM:618451 OMIM:255125 OMIM:613385 ORPHA:228426 OMIM:619566 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:616268 ORPHA:457193 OMIM:616784 ORPHA:420561 OMIM:618856 OMIM:619724 OMIM:616728 ORPHA:477993 OMIM:618109 ORPHA:2322 OMIM:147920 ORPHA:2526 OMIM:256700 OMIM:135700 OMIM:617235 ORPHA:66629 OMIM:609460 ORPHA:319182 OMIM:619934 OMIM:615278 OMIM:609942 OMIM:617468 ORPHA:298 ORPHA:235 ORPHA:98853 ORPHA:2229 OMIM:212112 OMIM:161200 ORPHA:1458 OMIM:600373 OMIM:164310 OMIM:616304 ORPHA:3152 OMIM:615838 OMIM:616564 OMIM:605275 ORPHA:1272 OMIM:601088 OMIM:615280 ORPHA:638 OMIM:157800 OMIM:619087 OMIM:616734 OMIM:618283 OMIM:257920 OMIM:617564 OMIM:300260 ORPHA:1762 OMIM:309520 OMIM:300895 OMIM:618872 ORPHA:369891 ORPHA:464738 OMIM:616449 OMIM:615084 ORPHA:352447 OMIM:615673 ORPHA:401768 ORPHA:2745 OMIM:300928 OMIM:619527 OMIM:249000 OMIM:618499 OMIM:618958 OMIM:617664 ORPHA:254930 OMIM:613559 OMIM:620086 ORPHA:14 OMIM:208150 OMIM:616325 OMIM:618155 OMIM:605637 OMIM:193700 OMIM:618436 OMIM:178110 ORPHA:2053 OMIM:158300 ORPHA:3377 OMIM:619424 ORPHA:1358 OMIM:254940 OMIM:616549 OMIM:618198 OMIM:618975 OMIM:300855 OMIM:616239 ORPHA:70474 OMIM:618238 OMIM:618226 OMIM:252010 OMIM:618225 OMIM:607684 OMIM:601321 ORPHA:404454 OMIM:615273 OMIM:122470 OMIM:186500 OMIM:614153 ORPHA:276198 OMIM:619473 ORPHA:2789 OMIM:130720 OMIM:618859 ORPHA:220497 OMIM:613224 OMIM:618637 ORPHA:1507 OMIM:619075 ORPHA:544488 OMIM:619701 ORPHA:1215 OMIM:125250 OMIM:164300 ORPHA:270 ORPHA:329224 OMIM:615009 ORPHA:2209 ORPHA:894 OMIM:106210 OMIM:618578 ORPHA:439822 OMIM:616592 OMIM:312170 OMIM:620021 OMIM:170100 ORPHA:44 OMIM:266500 ORPHA:773 ORPHA:127 OMIM:301900 ORPHA:589905 OMIM:602078 OMIM:114300 OMIM:108145 ORPHA:1154 OMIM:248700 ORPHA:2461 ORPHA:3474 OMIM:618548 OMIM:603387 ORPHA:257 ORPHA:254361 OMIM:225400 OMIM:619955 ORPHA:570 ORPHA:254892 ORPHA:254886 OMIM:603041 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:610131 OMIM:619743 OMIM:617506 OMIM:618820 OMIM:616355 OMIM:619862 ORPHA:163690 OMIM:616224 OMIM:300661 OMIM:619539 OMIM:610539 OMIM:151100 ORPHA:13 ORPHA:508498 OMIM:617931 ORPHA:314655 OMIM:617258 OMIM:617982 OMIM:600118 OMIM:614701 OMIM:611376 OMIM:611553 OMIM:619311 OMIM:616326 ORPHA:1587 OMIM:615895 OMIM:274000 ORPHA:494344 OMIM:619790 OMIM:615355 ORPHA:329336 OMIM:616479 OMIM:619113 OMIM:611560 OMIM:613077 OMIM:616723 ORPHA:98905 ORPHA:424107 OMIM:619542 OMIM:255320 ORPHA:959 ORPHA:99956 OMIM:607330 ORPHA:46059 OMIM:614198 ORPHA:521411 OMIM:252011 ORPHA:171706 OMIM:162100 OMIM:616078 ORPHA:404440 OMIM:615761 OMIM:164210 ORPHA:245 OMIM:617575 ORPHA:48652 OMIM:606232 OMIM:607721 OMIM:619314 ORPHA:488437 OMIM:182212 OMIM:218000 OMIM:269920 ORPHA:352649 OMIM:618049 OMIM:617239 OMIM:607483 OMIM:618197 OMIM:609283 OMIM:617595 OMIM:211530 OMIM:211500 OMIM:617143 OMIM:300352 ORPHA:52503 OMIM:617301 OMIM:167100 ORPHA:2588 OMIM:619293 ORPHA:2728 OMIM:614608 OMIM:618362 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:309583 ORPHA:3063 OMIM:616330 OMIM:610733 OMIM:616559 OMIM:615866 OMIM:145420 ORPHA:1519 ORPHA:70594 OMIM:611431 OMIM:255995 ORPHA:168572 OMIM:614261 OMIM:612073 ORPHA:1933 ORPHA:17 OMIM:220110 ORPHA:88644 OMIM:610743 OMIM:615476 ORPHA:228410 OMIM:619972 OMIM:615663 OMIM:220500 ORPHA:397973 ORPHA:1727 OMIM:615314 OMIM:154500 OMIM:615145 OMIM:618798 ORPHA:1297 OMIM:113620 ORPHA:46627 OMIM:169100 OMIM:301066 OMIM:614816 OMIM:615582 OMIM:142946 ORPHA:101150 OMIM:605407 OMIM:619989 ORPHA:254875 OMIM:617069 OMIM:618050 OMIM:213980 OMIM:617563 OMIM:614424 OMIM:216360 OMIM:602152 ORPHA:140976 OMIM:619185 OMIM:618098 OMIM:618947 OMIM:129400 OMIM:108120 OMIM:618164 OMIM:617061 ORPHA:476126 ORPHA:663 OMIM:611705 ORPHA:467166 ORPHA:300570 OMIM:600638 OMIM:617732 OMIM:609286 OMIM:620040 OMIM:301830 OMIM:244450 OMIM:619189 OMIM:618792 OMIM:616801 ORPHA:251282 OMIM:108600 OMIM:615917 OMIM:613610 OMIM:251300 OMIM:222300 OMIM:120433 ORPHA:1473 OMIM:613561 OMIM:617557 ORPHA:506358 OMIM:259050 ORPHA:3454 OMIM:314580 OMIM:301041 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:178300 OMIM:616602 OMIM:618736 OMIM:618659 OMIM:616083 OMIM:619557 OMIM:618619 OMIM:619488 OMIM:603671 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.