Ptosis
Symptom Information:
Symptom ID: | HPO:0000508 | |||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye physiology(HPO:0012373) Ptosis(HPO:0000508) MedDRA: Nervous system disorders(MedDRA:10029205) Neurological disorders of the eye(MedDRA:10029301) Ocular signs and symptoms NEC(MedDRA:10030952) Ptosis(HPO:0000508) |
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Database Frequency: | 459 / 7739 | |||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
16p13.3 microduplication syndrome | (Orphanet:96078) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2p21 microdeletion syndrome | (Orphanet:163693) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
3MC SYNDROME 1 | (OMIM:257920) |
3MC SYNDROME 2 | (OMIM:265050) |
3MC SYNDROME 3 | (OMIM:248340) |
3q13 microdeletion syndrome | (Orphanet:1621) |
4q21 microdeletion syndrome | (Orphanet:238750) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT | (OMIM:100050) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM | (OMIM:104350) |
ARIMA SYNDROME | (OMIM:243910) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
Aarskog-Scott syndrome | (Orphanet:915) |
Aase-Smith syndrome | (Orphanet:916) |
Acro-fronto-facio-nasal dysostosis | (Orphanet:1784) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Acromelic frontonasal dysplasia | (Orphanet:1827) |
Adult intestinal botulism | (Orphanet:178487) |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | (Orphanet:329314) |
Aicardi-Goutières syndrome | (Orphanet:51) |
Alexander disease | (Orphanet:58) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Aniridia | (Orphanet:77) |
Aniridia - absent patella | (Orphanet:1069) |
Aniridia - ptosis - intellectual deficit - familial obesity | (Orphanet:1067) |
Aromatic L-amino acid decarboxylase deficiency | (Orphanet:35708) |
Arthrogryposis due to muscular dystrophy | (Orphanet:1155) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Ascher syndrome | (Orphanet:1253) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
Autosomal dominant Charcot-Marie-Tooth disease type 2E | (Orphanet:99939) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant centronuclear myopathy | (Orphanet:169189) |
Autosomal dominant multiple pterygium syndrome | (Orphanet:65743) |
Autosomal dominant optic atrophy and congenital deafness | (Orphanet:3212) |
Autosomal dominant progressive external ophthalmoplegia | (Orphanet:254892) |
Autosomal dominant spastic ataxia 1 | (Orphanet:251282) |
Autosomal recessive Emery-Dreifuss muscular dystrophy | (Orphanet:98855) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive centronuclear myopathy | (Orphanet:169186) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
Autosomal recessive cutis laxa type 1 | (Orphanet:90349) |
Autosomal recessive dopa-responsive dystonia | (Orphanet:101150) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive progressive external ophthalmoplegia | (Orphanet:254886) |
Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARAITSER-WINTER SYNDROME 2 | (OMIM:614583) |
BIFID NOSE, AUTOSOMAL DOMINANT | (OMIM:109740) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
BROWN-VIALETTO-VAN LAERE SYNDROME 1 | (OMIM:211530) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Beckwith-Wiedemann syndrome due to NSD1 mutation | (Orphanet:238613) |
Bifid nose | (Orphanet:2695) |
Biotin-responsive basal ganglia disease | (Orphanet:65284) |
Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
Blepharophimosis - epicanthus inversus - ptosis | (Orphanet:126) |
Blepharophimosis - ptosis - esotropia - syndactyly - short stature | (Orphanet:2057) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Blepharoptosis - cleft palate - ectrodactyly - dental anomalies | (Orphanet:1258) |
Blepharoptosis - myopia - ectopia lentis | (Orphanet:1259) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARDIOFACIOCUTANEOUS SYNDROME 2 | (OMIM:615278) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CHARCOT-MARIE-TOOTH DISEASE WITH PTOSIS AND PARKINSONISM | (OMIM:118301) |
CHARGE syndrome | (Orphanet:138) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CHROMOSOME 5q12 DELETION SYNDROME | (OMIM:615668) |
CLUSTER HEADACHE, FAMILIAL | (OMIM:119915) |
CODAS syndrome | (Orphanet:1458) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 | (OMIM:615917) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 5 | (OMIM:300882) |
CRANIOSYNOSTOSIS WITH OCULAR ABNORMALITIES AND HALLUCAL DEFECTS | (OMIM:608279) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
CREE MENTAL RETARDATION SYNDROME | (OMIM:606851) |
Camptodactyly - joint contractures - facial skeletal defects | (Orphanet:1323) |
Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cataract - aberrant oral frenula - growth delay | (Orphanet:1373) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Centronuclear myopathy | (Orphanet:595) |
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss | (Orphanet:1171) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-reno-digital syndrome | (Orphanet:1396) |
Char syndrome | (Orphanet:46627) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Coffin-Siris syndrome | (Orphanet:1465) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Conductive deafness - ptosis - skeletal anomalies | (Orphanet:3236) |
Congenital fiber-type disproportion myopathy | (Orphanet:2020) |
Congenital multicore myopathy with external ophthalmoplegia | (Orphanet:98905) |
Congenital muscular dystrophy - infantile cataract - hypogonadism | (Orphanet:1875) |
Congenital myasthenic syndromes with glycosylation defect | (Orphanet:353327) |
Corneal-cerebellar syndrome | (Orphanet:3177) |
Cornelia de Lange syndrome | (Orphanet:199) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Costello syndrome | (Orphanet:3071) |
Cranio-osteoarthropathy | (Orphanet:1525) |
Craniofacial-ulnar-renal syndrome | (Orphanet:293843) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
Craniosynostosis - fibular aplasia | (Orphanet:1533) |
Crouzon disease | (Orphanet:207) |
Crouzon syndrome - acanthosis nigricans | (Orphanet:93262) |
Cutis gyrata - acanthosis nigricans - craniosynostosis | (Orphanet:1555) |
Cutis laxa | (Orphanet:209) |
Cyprus facial-neuromusculoskeletal syndrome | (Orphanet:2674) |
DEND syndrome | (Orphanet:79134) |
Dahlberg-Borer-Newcomer syndrome | (Orphanet:1563) |
Deafness - small bowel diverticulosis - neuropathy | (Orphanet:3217) |
Deafness - onychodystrophy | (Orphanet:3231) |
Delayed speech - facial asymmetry - strabismus - ear lobe creases | (Orphanet:3038) |
Dermo-odonto dysplasia | (Orphanet:1660) |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | (Orphanet:2229) |
Distal monosomy 3p | (Orphanet:1620) |
Distal trisomy 15q | (Orphanet:1707) |
Distal trisomy 6p | (Orphanet:1745) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dopamine beta-hydroxylase deficiency | (Orphanet:230) |
Duane retraction syndrome | (Orphanet:233) |
Dubowitz syndrome | (Orphanet:235) |
Dyschromatosis symmetrica hereditaria | (Orphanet:41) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
Early infantile epileptic encephalopathy without suppression burst | (Orphanet:369894) |
Early-onset myopathy with fatal cardiomyopathy | (Orphanet:289377) |
Early-onset spastic ataxia-neuropathy syndrome | (Orphanet:313772) |
Ehlers-Danlos syndrome, hypermobility type | (Orphanet:285) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Emery-Dreifuss muscular dystrophy | (Orphanet:261) |
Epidermolysis bullosa simplex with muscular dystrophy | (Orphanet:257) |
Epiphyseal dysplasia - hearing loss - dysmorphism | (Orphanet:1825) |
Erdheim-Chester disease | (Orphanet:35687) |
Eyebrow duplication - syndactyly | (Orphanet:3172) |
FACES syndrome | (Orphanet:1969) |
FACIOCARDIOMELIC SYNDROME | (OMIM:612731) |
FAZIO-LONDE DISEASE | (OMIM:211500) |
FETAL AKINESIA DEFORMATION SEQUENCE | (OMIM:208150) |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT | (OMIM:600638) |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 | (OMIM:616219) |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, WITH SYNERGISTIC DIVERGENCE | (OMIM:609612) |
FRONTOFACIONASAL DYSPLASIA | (OMIM:229400) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 | (OMIM:615911) |
Facial dysmorphism - shawl scrotum - joint laxity | (Orphanet:1778) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Fanconi anemia | (Orphanet:84) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Fetal alcohol syndrome | (Orphanet:1915) |
Fetal hydantoin syndrome | (Orphanet:1912) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Foodborne botulism | (Orphanet:228371) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Friedreich ataxia 1 | (OMIM:229300) |
Fronto-facio-nasal dysostosis | (Orphanet:1791) |
Frontonasal dysplasia | (Orphanet:250) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type | (Orphanet:79399) |
Giant cell arteritis | (Orphanet:397) |
Glycogen storage disease due to aldolase A deficiency | (Orphanet:57) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Good syndrome | (Orphanet:169105) |
Gordon syndrome | (Orphanet:376) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
Growth deficiency - brachydactyly - dysmorphism | (Orphanet:2055) |
Growth delay due to insulin-like growth factor type 1 deficiency | (Orphanet:73272) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HOLOPROSENCEPHALY 4 | (OMIM:142946) |
HUNTER-MACDONALD SYNDROME | (OMIM:611962) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Hepatic fibrosis - renal cysts - intellectual deficit | (Orphanet:2031) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia | (Orphanet:79091) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holoprosencephaly | (Orphanet:2162) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypertrichosis cubiti - short stature | (Orphanet:2220) |
Hypoparathyroidism - deafness - renal disease | (Orphanet:2237) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Iatrogenic botulism | (Orphanet:254509) |
Infant botulism | (Orphanet:178478) |
Inhalational botulism | (Orphanet:254504) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit - myopathy - short stature - endocrine defect | (Orphanet:3068) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Intestinal botulism | (Orphanet:178481) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated plagiocephaly | (Orphanet:35098) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Jackson-Weiss syndrome | (Orphanet:1540) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 28 | (OMIM:617121) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome 7 | (OMIM:611560) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Joubert syndrome with renal defect | (Orphanet:220497) |
Juberg-Hayward syndrome | (Orphanet:2319) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS | (OMIM:245160) |
Kabuki syndrome | (Orphanet:2322) |
Kallmann syndrome | (Orphanet:478) |
Kawasaki disease | (Orphanet:2331) |
Kearns-Sayre syndrome | (Orphanet:480) |
Keipert syndrome | (Orphanet:2662) |
Kniest dysplasia | (Orphanet:485) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Kozlowski-Brown-Hardwick syndrome | (Orphanet:2352) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
Lacrimo-auriculo-dento-digital syndrome | (Orphanet:2363) |
Lateral meningocele syndrome | (Orphanet:2789) |
Lathosterolosis | (Orphanet:46059) |
Legius syndrome | (Orphanet:137605) |
Leigh syndrome | (Orphanet:506) |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | (Orphanet:314051) |
Lymphedema - distichiasis | (Orphanet:33001) |
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | (OMIM:606369) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE | (OMIM:609037) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 | (OMIM:615834) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 | (OMIM:616078) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM | (OMIM:606242) |
MENTAL RETARDATION, OBESITY, MANDIBULAR PROGNATHISM, AND EYE AND SKINANOMALIES | (OMIM:606772) |
MERRF | (Orphanet:551) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MICROPHTHALMIA, SYNDROMIC 13 | (OMIM:300915) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) | (OMIM:603041) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MYASTHENIA GRAVIS | (OMIM:254200) |
MYASTHENIC SYNDROME, CONGENITAL, 10 | (OMIM:254300) |
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616326) |
MYASTHENIC SYNDROME, CONGENITAL, 12 | (OMIM:610542) |
MYASTHENIC SYNDROME, CONGENITAL, 15 | (OMIM:616227) |
MYASTHENIC SYNDROME, CONGENITAL, 16 | (OMIM:614198) |
MYASTHENIC SYNDROME, CONGENITAL, 17 | (OMIM:616304) |
MYASTHENIC SYNDROME, CONGENITAL, 18 | (OMIM:616330) |
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL | (OMIM:601462) |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | (OMIM:608930) |
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL | (OMIM:616313) |
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL | (OMIM:616321) |
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL | (OMIM:616322) |
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616323) |
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL | (OMIM:605809) |
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL | (OMIM:616324) |
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:608931) |
MYASTHENIC SYNDROME, CONGENITAL, 8 | (OMIM:615120) |
MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:616325) |
MYOPATHY, CENTRONUCLEAR, 1 | (OMIM:160150) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | (OMIM:255310) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED | (OMIM:300580) |
Macrocephaly - short stature - paraplegia | (Orphanet:2427) |
Macrostomia - preauricular tags - external ophthalmoplegia | (Orphanet:83619) |
Malignant atrophic papulosis | (Orphanet:679) |
Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
Marden-Walker syndrome | (Orphanet:2461) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
McDonough syndrome | (Orphanet:2471) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Mesomelia-synostoses syndrome | (Orphanet:2496) |
Micro syndrome | (Orphanet:2510) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephaly - cervical spine fusion anomalies | (Orphanet:2522) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Mitochondrial DNA deletion syndrome with progressive myopathy | (Orphanet:352470) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial neurogastrointestinal encephalomyopathy | (Orphanet:298) |
Moebius syndrome | (Orphanet:570) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 22q13 | (Orphanet:48652) |
Mosaic trisomy 14 | (Orphanet:1703) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | (Orphanet:280679) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Muenke syndrome | (Orphanet:53271) |
Multiple system atrophy | (Orphanet:102) |
Myasthenia gravis | (Orphanet:589) |
Myhre syndrome | (Orphanet:2588) |
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 | (OMIM:613561) |
NOONAN SYNDROME 1 | (OMIM:163950) |
NOONAN SYNDROME 4 | (OMIM:610733) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Nager syndrome | (Orphanet:245) |
Nail-patella syndrome | (Orphanet:2614) |
Native American myopathy | (Orphanet:168572) |
Necrotizing encephalomyelopathy, subacute, of Leigh, adult | (OMIM:161700) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neuralgic amyotrophy | (Orphanet:2901) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Neurofibromatosis - Noonan syndrome | (Orphanet:638) |
Neutral lipid storage disease | (Orphanet:165) |
Night blindness - skeletal anomalies - dysmorphism | (Orphanet:1390) |
Non-distal monosomy 10q | (Orphanet:1581) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS | (OMIM:258400) |
OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA | (OMIM:311000) |
OPHTHALMOPLEGIA, FAMILIAL STATIC | (OMIM:165000) |
OPHTHALMOPLEGIA, FAMILIAL TOTAL, WITH IRIS TRANSILLUMINATION | (OMIM:165098) |
OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA | (OMIM:258470) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Oculogastrointestinal muscular dystrophy | (Orphanet:1876) |
Oculopharyngeal muscular dystrophy | (Orphanet:270) |
Oculopharyngodistal myopathy | (Orphanet:98897) |
Ophthalmoplegia - intellectual deficit - lingua scrotalis | (Orphanet:2743) |
Ophthalmoplegia - myalgia - tubular aggregates | (Orphanet:2742) |
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | (OMIM:615895) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 | (OMIM:157640) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 | (OMIM:609283) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 3 | (OMIM:609286) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 | (OMIM:610131) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 | (OMIM:613077) |
PTOSIS, HEREDITARY CONGENITAL 2 | (OMIM:300245) |
PURPURA SIMPLEX | (OMIM:179000) |
Pachydermoperiostosis | (Orphanet:2796) |
Pachygyria - epilepsy - intellectual deficit - dysmorphism | (Orphanet:94084) |
Paraplegia - intellectual deficit - hyperkeratosis | (Orphanet:2824) |
Paris-Trousseau thrombocytopenia | (Orphanet:851) |
Perlman syndrome | (Orphanet:2849) |
Permanent neonatal diabetes mellitus | (Orphanet:99885) |
Perrault Syndrome | (Orphanet:2855) |
Peters-plus syndrome | (Orphanet:709) |
Pfeiffer syndrome | (Orphanet:710) |
Polyglucosan body myopathy type 1 | (ORPHA:397937) |
Polysyndactyly - cardiac malformation | (Orphanet:2934) |
Polyvalvular heart disease syndrome | (Orphanet:228410) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Posterior fusion of lumbosacral vertebrae - blepharoptosis | (Orphanet:2064) |
Postsynaptic congenital myasthenic syndromes | (Orphanet:98913) |
Presynaptic congenital myasthenic syndromes | (Orphanet:98914) |
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | (Orphanet:306558) |
Progressive external ophthalmoplegia - myopathy - emaciation | (Orphanet:352447) |
Progressive hemifacial atrophy | (Orphanet:1214) |
Prolidase deficiency | (Orphanet:742) |
Proteus syndrome | (Orphanet:744) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Pseudoprogeria syndrome | (Orphanet:2985) |
Pterygium colli - intellectual deficit - digital anomalies | (Orphanet:2988) |
Ptosis - strabismus - ectopic pupils | (Orphanet:2999) |
Ptosis - upper ocular movement limitation - absence of lacrimal punctum | (Orphanet:228396) |
Ptosis - vocal cord paralysis | (Orphanet:2997) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
RAPP-HODGKIN SYNDROME | (OMIM:129400) |
RHYNS syndrome | (Orphanet:140976) |
RIENHOFF SYNDROME | (OMIM:615582) |
Refsum disease | (Orphanet:773) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Riboflavin transporter deficiency | (Orphanet:97229) |
Ring chromosome 1 | (Orphanet:1437) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Ruvalcaba syndrome | (Orphanet:3121) |
SCARF syndrome | (Orphanet:3134) |
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS | (OMIM:609654) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Sclerosteosis | (Orphanet:3152) |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis | (Orphanet:70595) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Short stature - valvular heart disease - characteristic facies | (Orphanet:2868) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 28 | (Orphanet:101109) |
Spinocerebellar ataxia type 3 | (Orphanet:98757) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |
Steinert myotonic dystrophy | (Orphanet:273) |
Synaptic congenital myasthenic syndromes | (Orphanet:98915) |
THAI SYMPHALANGISM SYNDROME | (OMIM:608028) |
TUKEL SYNDROME | (OMIM:609428) |
Teebi-Shaltout syndrome | (Orphanet:3291) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Terminal osseous dysplasia - pigmentary defects | (Orphanet:88630) |
Tetrasomy 12p | (Orphanet:884) |
Thiamine-responsive encephalopathy | (Orphanet:199348) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Thymic epithelial neoplasm | (Orphanet:3398) |
Thymic tumor | (Orphanet:100100) |
Thymoma | (Orphanet:99867) |
Toxin-mediated infectious botulism | (Orphanet:230800) |
Treacher-Collins syndrome | (Orphanet:861) |
Trichodermal syndrome - intellectual deficit | (Orphanet:3360) |
Trigonocephaly - broad thumbs | (Orphanet:3365) |
Trismus - pseudocamptodactyly | (Orphanet:3377) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 5p | (Orphanet:1742) |
Trisomy Xq28 | (Orphanet:1762) |
Turner syndrome | (Orphanet:881) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | (Orphanet:73246) |
WAGR syndrome | (Orphanet:893) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WARBURG MICRO SYNDROME 4 | (OMIM:615663) |
WERNICKE-KORSAKOFF SYNDROME | (OMIM:277730) |
WHISTLING FACE SYNDROME, RECESSIVE FORM | (OMIM:277720) |
WIDOW'S PEAK SYNDROME | (OMIM:314570) |
Waardenburg syndrome | (Orphanet:3440) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Waardenburg syndrome type 2 | (Orphanet:895) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome 1 | (OMIM:222300) |
Wound botulism | (Orphanet:178475) |
X-linked centronuclear myopathy | (Orphanet:596) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |