Scoliosis
Symptom Information:
Symptom ID: | HPO:0002650 | ||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||||||||||||
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 skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Abnormal axial skeleton morphology(HPO:0009121) Abnormality of the vertebral column(HPO:0000925) Abnormality of the curvature of the vertebral column(HPO:0010674) Scoliosis(HPO:0002650) MedDRA: Respiratory, thoracic and mediastinal disorders(MedDRA:10038738) Thoracic disorders (excl lung and pleura)(MedDRA:10013369) Thoracic musculoskeletal disorders(MedDRA:10043475) Scoliosis(HPO:0002650) |
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Database Frequency: | 705 / 7739 | ||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
12q14 microdeletion syndrome | (Orphanet:94063) |
14q12 microdeletion syndrome | (Orphanet:261144) |
15q14 microdeletion syndrome | (Orphanet:261190) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16q24.3 microdeletion syndrome | (Orphanet:261250) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q11 microdeletion syndrome | (Orphanet:97685) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q44 microdeletion syndrome | (Orphanet:238769) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
3C syndrome | (Orphanet:7) |
3M syndrome | (Orphanet:2616) |
48,XXXY syndrome | (Orphanet:96263) |
48,XXYY syndrome | (Orphanet:10) |
49,XXXXY syndrome | (Orphanet:96264) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5p13 microduplication syndrome | (Orphanet:329802) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM | (OMIM:104350) |
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | (OMIM:201750) |
AREDYLD syndrome | (Orphanet:1133) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
Aase-Smith syndrome | (Orphanet:916) |
Absence deformity of leg - cataract | (Orphanet:2310) |
Acro-osteolysis-keloid-like lesions-premature aging syndrome | (Orphanet:363665) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-mandibular syndrome | (Orphanet:958) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acrocapitofemoral dysplasia | (Orphanet:63446) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Acrofacial dysostosis, Palagonia type | (Orphanet:1787) |
Acrogeria | (Orphanet:2500) |
Acromesomelic dysplasia, Hunter-Thomson type | (Orphanet:968) |
Acromesomelic dysplasia, Maroteaux type | (Orphanet:40) |
Acroosteolysis, dominant type | (Orphanet:955) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Aicardi syndrome | (Orphanet:50) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alexander disease | (Orphanet:58) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alopecia - contractures - dwarfism - intellectual deficit | (Orphanet:1005) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-mannosidosis | (Orphanet:61) |
Alström syndrome | (Orphanet:64) |
Amniotic bands | (Orphanet:1034) |
Aneurysm - osteoarthritis syndrome | (Orphanet:284984) |
Angelman syndrome | (Orphanet:72) |
Angio-osteohypertrophic syndrome | (Orphanet:2346) |
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies | (Orphanet:1101) |
Arnold-Chiari malformation type I | (Orphanet:268882) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Arthrogryposis due to muscular dystrophy | (Orphanet:1155) |
Arthrogryposis multiplex congenita | (Orphanet:1037) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Arthrogryposis-like syndrome | (Orphanet:1149) |
Aspartylglucosaminuria | (Orphanet:93) |
Ataxia - oculomotor apraxia type 1 | (Orphanet:1168) |
Ataxia with vitamin E deficiency | (Orphanet:96) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Atelosteogenesis type II | (Orphanet:56304) |
Atelosteogenesis type III | (Orphanet:56305) |
Atkin-Flaitz syndrome | (Orphanet:1193) |
Atypical Rett syndrome | (Orphanet:3095) |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | (Orphanet:99947) |
Autosomal dominant Charcot-Marie-Tooth disease type 2C | (Orphanet:99937) |
Autosomal dominant Charcot-Marie-Tooth disease type 2D | (Orphanet:99938) |
Autosomal dominant Charcot-Marie-Tooth disease type 2E | (Orphanet:99939) |
Autosomal dominant Charcot-Marie-Tooth disease type 2L | (Orphanet:99945) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant brachyolmia | (Orphanet:93304) |
Autosomal dominant chondrodysplasia punctata | (Orphanet:79344) |
Autosomal dominant congenital benign spinal muscular atrophy | (Orphanet:1216) |
Autosomal dominant dopa-responsive dystonia | (Orphanet:98808) |
Autosomal dominant hyper-IgE syndrome | (Orphanet:2314) |
Autosomal dominant limb-girdle muscular dystrophy type 1B | (Orphanet:264) |
Autosomal dominant multiple pterygium syndrome | (Orphanet:65743) |
Autosomal dominant popliteal pterygium syndrome | (Orphanet:1300) |
Autosomal dominant spastic paraplegia type 10 | (Orphanet:100991) |
Autosomal dominant spastic paraplegia type 3 | (Orphanet:100984) |
Autosomal dominant spondylocostal dysostosis | (Orphanet:1797) |
Autosomal recessive Emery-Dreifuss muscular dystrophy | (Orphanet:98855) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive centronuclear myopathy | (Orphanet:169186) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive cutis laxa type 2B | (Orphanet:357064) |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | (Orphanet:217055) |
Autosomal recessive limb-girdle muscular dystrophy type 2C | (Orphanet:353) |
Autosomal recessive limb-girdle muscular dystrophy type 2D | (Orphanet:62) |
Autosomal recessive limb-girdle muscular dystrophy type 2E | (Orphanet:119) |
Autosomal recessive limb-girdle muscular dystrophy type 2I | (Orphanet:34515) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive lower motor neuron disease with childhood onset | (Orphanet:206580) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive spastic ataxia with leukoencephalopathy | (Orphanet:314603) |
Autosomal recessive spastic paraplegia type 18 | (Orphanet:209951) |
Autosomal recessive spastic paraplegia type 26 | (Orphanet:101006) |
Autosomal recessive spastic paraplegia type 28 | (Orphanet:101008) |
Autosomal recessive spastic paraplegia type 44 | (Orphanet:320401) |
Autosomal recessive spastic paraplegia type 46 | (Orphanet:320391) |
Autosomal recessive spastic paraplegia type 7 | (Orphanet:99013) |
Autosomal recessive spondylocostal dysostosis | (Orphanet:2311) |
Axial mesodermal dysplasia spectrum | (Orphanet:1834) |
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY | (OMIM:601357) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
BRESEK syndrome | (Orphanet:85284) |
BRITTLE CORNEA SYNDROME 1 | (OMIM:229200) |
BROWN-VIALETTO-VAN LAERE SYNDROME 1 | (OMIM:211530) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
BRUCK SYNDROME 1 | (OMIM:259450) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Becker nevus syndrome | (Orphanet:64755) |
Beckwith-Wiedemann syndrome due to NSD1 mutation | (Orphanet:238613) |
Beta-ureidopropionase deficiency | (Orphanet:65287) |
Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Brachydactyly type A1 | (Orphanet:93388) |
Brachyolmia | (Orphanet:1293) |
Brachyolmia type 1, Hobaek type | (Orphanet:93301) |
Brachyolmia type 1, Toledo type | (Orphanet:93303) |
Braddock syndrome | (Orphanet:52047) |
Brittle cornea syndrome | (Orphanet:90354) |
Bruck syndrome | (Orphanet:2771) |
C syndrome | (Orphanet:1308) |
CAMPTODACTYLY WITH FIBROUS TISSUE HYPERPLASIA AND SKELETAL DYSPLASIA | (OMIM:211930) |
CARDIOFACIOCUTANEOUS SYNDROME 3 | (OMIM:615279) |
CARDIOFACIOCUTANEOUS SYNDROME 4 | (OMIM:615280) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA | (OMIM:616007) |
CEREBELLOFACIODENTAL SYNDROME | (OMIM:616202) |
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1 | (OMIM:603513) |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S | (OMIM:616155) |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED | (OMIM:302900) |
CHARGE syndrome | (Orphanet:138) |
CHILD syndrome | (Orphanet:139) |
CHST3-related skeletal dysplasia | (Orphanet:263463) |
CK syndrome | (Orphanet:251383) |
CLARK-BARAITSER SYNDROME | (OMIM:300602) |
CLEIDOCRANIAL DYSPLASIA | (OMIM:119600) |
CLOVE syndrome | (Orphanet:140944) |
CODAS syndrome | (Orphanet:1458) |
COENZYME Q10 DEFICIENCY, PRIMARY, 7 | (OMIM:616276) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COLD-INDUCED SWEATING SYNDROME 1 | (OMIM:272430) |
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY | (OMIM:616266) |
COWDEN SYNDROME 5 | (OMIM:615108) |
COWDEN SYNDROME 6 | (OMIM:615109) |
CRANIOMETADIAPHYSEAL DYSPLASIA | (OMIM:269300) |
CUTIS LAXA, AUTOSOMAL DOMINANT 2 | (OMIM:614434) |
Caffey disease | (Orphanet:1310) |
Campomelic dysplasia | (Orphanet:140) |
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia | (Orphanet:1321) |
Camptodactyly - joint contractures - facial skeletal defects | (Orphanet:1323) |
Camptodactyly - tall stature - scoliosis - hearing loss | (Orphanet:85164) |
Camurati-Engelmann disease | (Orphanet:1328) |
Cantrell pentalogy | (Orphanet:1335) |
Cap myopathy | (Orphanet:171881) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carpenter syndrome | (Orphanet:65759) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Cataract-congenital heart disease-neural tube defect syndrome | (Orphanet:314993) |
Catel-Manzke syndrome | (Orphanet:1388) |
Caudal regression sequence | (Orphanet:3027) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Centronuclear myopathy | (Orphanet:595) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Charcot-Marie-Tooth disease | (Orphanet:166) |
Charcot-Marie-Tooth disease type 4B1 | (Orphanet:99955) |
Charcot-Marie-Tooth disease type 4B3 | (Orphanet:363981) |
Charcot-Marie-Tooth disease type 4C | (Orphanet:99949) |
Charcot-Marie-Tooth disease type 4F | (Orphanet:99952) |
Charcot-Marie-Tooth disease type 4G | (Orphanet:99953) |
Charcot-Marie-Tooth disease type 4H | (Orphanet:99954) |
Chronic recurrent multifocal osteomyelitis | (Orphanet:324964) |
Classic multiminicore myopathy | (Orphanet:324604) |
Classical homocystinuria | (Orphanet:394) |
Cleft palate - short stature - vertebral anomalies | (Orphanet:2015) |
Cleidocranial dysplasia | (Orphanet:1452) |
Coats plus syndrome | (Orphanet:313838) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cohen syndrome | (Orphanet:193) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Congenital amegakaryocytic thrombocytopenia | (Orphanet:3319) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital contractural arachnodactyly | (Orphanet:115) |
Congenital fiber-type disproportion myopathy | (Orphanet:2020) |
Congenital multicore myopathy with external ophthalmoplegia | (Orphanet:98905) |
Congenital muscular dystrophy with cerebellar involvement | (Orphanet:370959) |
Congenital muscular dystrophy with integrin alpha-7 deficiency | (Orphanet:34520) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | (Orphanet:329178) |
Congenital muscular dystrophy, Ullrich type | (Orphanet:75840) |
Congenital myopathy with excess of thin filaments | (Orphanet:98904) |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | (Orphanet:300284) |
Constriction rings syndrome | (Orphanet:295000) |
Cooper-Jabs syndrome | (Orphanet:1488) |
Corneal-cerebellar syndrome | (Orphanet:3177) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniometadiaphyseal dysplasia, wormian bone type | (Orphanet:85184) |
Cryptorchidism - arachnodactyly - intellectual deficit | (Orphanet:1548) |
Cutis laxa | (Orphanet:209) |
Cutis marmorata telangiectatica congenita | (Orphanet:1556) |
Cyprus facial-neuromusculoskeletal syndrome | (Orphanet:2674) |
Czech dysplasia, metatarsal type | (Orphanet:137678) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
DIGEORGE SYNDROME | (OMIM:188400) |
DYGGVE-MELCHIOR-CLAUSEN DISEASE | (OMIM:223800) |
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED | (OMIM:304950) |
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | (OMIM:128100) |
De Barsy syndrome | (Orphanet:2962) |
Dermato-cardio-skeletal syndrome, Borrone type | (Orphanet:1266) |
Dermatoosteolysis, Kirghizian type | (Orphanet:1657) |
Desbuquois syndrome | (Orphanet:1425) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Developmental malformations - deafness - dystonia | (Orphanet:79107) |
Diabetic embryopathy | (Orphanet:1926) |
Diastematomyelia | (Orphanet:1671) |
Diastrophic dwarfism | (Orphanet:628) |
Digitotalar dysmorphism | (Orphanet:1146) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal monosomy 6p | (Orphanet:96125) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Duane anomaly - myopathy - scoliosis | (Orphanet:50817) |
Dubowitz syndrome | (Orphanet:235) |
Duchenne and Becker muscular dystrophy | (Orphanet:262) |
Duchenne muscular dystrophy | (Orphanet:98896) |
Dyggve-Melchior-Clausen disease | (Orphanet:239) |
Dyskeratosis congenita | (Orphanet:1775) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Dysspondyloenchondromatosis | (Orphanet:85198) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | (OMIM:300672) |
EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE | (OMIM:615923) |
Early-onset generalized limb-onset dystonia | (Orphanet:256) |
Early-onset myopathy with fatal cardiomyopathy | (Orphanet:289377) |
Ectodermal dysplasia - sensorineural deafness | (Orphanet:1883) |
Ehlers-Danlos syndrome type 1 | (Orphanet:90309) |
Ehlers-Danlos syndrome type 7A | (Orphanet:99875) |
Ehlers-Danlos syndrome type 7B | (Orphanet:99876) |
Ehlers-Danlos syndrome with periventricular heterotopia | (Orphanet:82004) |
Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
Ehlers-Danlos syndrome, classic type | (Orphanet:287) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, hypermobility type | (Orphanet:285) |
Ehlers-Danlos syndrome, kyphoscoliotic type | (Orphanet:1900) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Emanuel syndrome | (Orphanet:96170) |
Emery-Dreifuss muscular dystrophy | (Orphanet:261) |
Eng-Strom syndrome | (Orphanet:1937) |
Epilepsy - microcephaly - skeletal dysplasia | (Orphanet:1948) |
Epiphyseal dysplasia - hearing loss - dysmorphism | (Orphanet:1825) |
FACES syndrome | (Orphanet:1969) |
FG SYNDROME 4 | (OMIM:300422) |
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA | (OMIM:229310) |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | (Orphanet:1970) |
Faciocardiorenal syndrome | (Orphanet:1973) |
Familial dysautonomia | (Orphanet:1764) |
Familial multiple nevi flammei | (Orphanet:624) |
Familial osteodysplasia, Anderson type | (Orphanet:2769) |
Fanconi anemia | (Orphanet:84) |
Femoral-facial syndrome | (Orphanet:1988) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fibrodysplasia ossificans progressiva | (Orphanet:337) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Flat face - microstomia - ear anomaly | (Orphanet:1968) |
Flynn-Aird syndrome | (Orphanet:2047) |
Focal dermal hypoplasia | (Orphanet:2092) |
Fountain syndrome | (Orphanet:3219) |
Fragile X syndrome | (Orphanet:908) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Fried syndrome | (Orphanet:85335) |
Friedreich ataxia 1 | (OMIM:229300) |
Friedreich ataxia 2 | (OMIM:601992) |
Frontometaphyseal dysplasia | (Orphanet:1826) |
Fryns-Smeets-Thiry syndrome | (Orphanet:2058) |
Fucosidosis | (Orphanet:349) |
GLUTEAL MUSCLES, ABSENCE OF | (OMIM:231970) |
GM1 gangliosidosis | (Orphanet:354) |
GM1 gangliosidosis type 1 | (Orphanet:79255) |
GM1 gangliosidosis type 3 | (Orphanet:79257) |
Gaucher disease type 1 | (Orphanet:77259) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
Generalized congenital lipodystrophy with myopathy | (Orphanet:228429) |
Genito-palato-cardiac syndrome | (Orphanet:2075) |
Geroderma osteodysplastica | (Orphanet:2078) |
Giant axonal neuropathy | (Orphanet:643) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Glycogen storage disease due to acid maltase deficiency, late-onset | (Orphanet:420429) |
Gnathodiaphyseal dysplasia | (Orphanet:53697) |
Goldblatt syndrome | (Orphanet:166272) |
Goldenhar syndrome | (Orphanet:374) |
Gordon syndrome | (Orphanet:376) |
Gorlin syndrome | (Orphanet:377) |
HOLOPROSENCEPHALY 2 | (OMIM:157170) |
HUNTER-MACDONALD SYNDROME | (OMIM:611962) |
Hall-Riggs syndrome | (Orphanet:2107) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Harrod syndrome | (Orphanet:2115) |
Hemihypertrophy | (Orphanet:2128) |
Hennekam syndrome | (Orphanet:2136) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia | (Orphanet:79091) |
Hereditary motor and sensory neuropathy type 6 | (Orphanet:90120) |
Hereditary myoclonus - progressive distal muscular atrophy | (Orphanet:2590) |
Hereditary neuropathy with liability to pressure palsies | (Orphanet:640) |
Hip dysplasia, Beukes type | (Orphanet:2114) |
Holoprosencephaly | (Orphanet:2162) |
Holt-Oram syndrome | (Orphanet:392) |
Horizontal gaze palsy with progressive scoliosis | (Orphanet:2744) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hyaline body myopathy | (Orphanet:53698) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hydrocephaly - tall stature - joint laxity | (Orphanet:2181) |
Hypocalcemic vitamin D-resistant rickets | (Orphanet:93160) |
Hypochondroplasia | (Orphanet:429) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hypophosphatemic rickets | (Orphanet:437) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
IMMUNODEFICIENCY 23 | (OMIM:615816) |
IVIC syndrome | (Orphanet:2307) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Ichthyosis-cheek-eyebrow syndrome | (Orphanet:2267) |
Incontinentia pigmenti | (Orphanet:464) |
Infantile-onset ascending hereditary spastic paralysis | (Orphanet:293168) |
Inherited congenital spastic tetraplegia | (Orphanet:210141) |
Intellectual deficit - athetosis - microphthalmia | (Orphanet:1236) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, Wolff type | (Orphanet:3080) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration | (Orphanet:85317) |
Intellectual deficit, X-linked - psychosis - macroorchidism | (Orphanet:3077) |
Intellectual deficit, X-linked - seizures - psoriasis | (Orphanet:3052) |
Intellectual deficit, X-linked, Abidi type | (Orphanet:85273) |
Intellectual deficit, X-linked, Siderius type | (Orphanet:85287) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Isolated Klippel-Feil syndrome | (Orphanet:2345) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Isolated spina bifida | (Orphanet:823) |
Ito hypomelanosis | (Orphanet:435) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Joubert syndrome with renal defect | (Orphanet:220497) |
Juberg-Hayward syndrome | (Orphanet:2319) |
KABUKI SYNDROME 1 | (OMIM:147920) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | (OMIM:118100) |
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE | (OMIM:214300) |
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT | (OMIM:613702) |
Kabuki syndrome | (Orphanet:2322) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Kleefstra syndrome | (Orphanet:261494) |
Kniest dysplasia | (Orphanet:485) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LEBER OPTIC ATROPHY AND DYSTONIA | (OMIM:500001) |
LOEYS-DIETZ SYNDROME 1 | (OMIM:609192) |
LOEYS-DIETZ SYNDROME 2 | (OMIM:610168) |
LOEYS-DIETZ SYNDROME 4 | (OMIM:614816) |
Laing distal myopathy | (Orphanet:59135) |
Langer-Giedion syndrome | (Orphanet:502) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Lateral meningocele syndrome | (Orphanet:2789) |
Leigh syndrome | (Orphanet:506) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Leri pleonosteosis | (Orphanet:2900) |
Lethal chondrodysplasia, Moerman type | (Orphanet:1420) |
Lethal restrictive dermopathy | (Orphanet:1662) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Limb body wall complex | (Orphanet:2369) |
Linear verrucous nevus syndrome | (Orphanet:2611) |
Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
Léri-Weill dyschondrosteosis | (Orphanet:240) |
MACS syndrome | (Orphanet:217335) |
MARFANOID HABITUS WITH SITUS INVERSUS | (OMIM:609008) |
MARFANOID HYPERMOBILITY SYNDROME | (OMIM:154750) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 | (OMIM:615761) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 | (OMIM:615834) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 | (OMIM:616311) |
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 | (OMIM:300676) |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE | (OMIM:300861) |
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM | (OMIM:616033) |
MUCOLIPIDOSIS III ALPHA/BETA | (OMIM:252600) |
MUCOLIPIDOSIS III GAMMA | (OMIM:252605) |
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE | (OMIM:609456) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | (OMIM:606612) |
MYASTHENIC SYNDROME, CONGENITAL, 13 | (OMIM:614750) |
MYASTHENIC SYNDROME, CONGENITAL, 14 | (OMIM:616228) |
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL | (OMIM:608930) |
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET | (OMIM:614399) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | (OMIM:255310) |
MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET | (OMIM:300718) |
Macrocephaly - spastic paraplegia - dysmorphism | (Orphanet:2429) |
Madelung deformity | (Orphanet:35688) |
Maffucci syndrome | (Orphanet:163634) |
Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
Mandibular hypoplasia-deafness-progeroid syndrome | (Orphanet:363649) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfan syndrome | (Orphanet:558) |
Marfan syndrome type 1 | (Orphanet:284963) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall-Smith syndrome | (Orphanet:561) |
Maxillo-nasal dysplasia | (Orphanet:1248) |
McDonough syndrome | (Orphanet:2471) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Mesomelic dwarfism, Nievergelt type | (Orphanet:2633) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Metaphyseal chondrodysplasia, Spahr type | (Orphanet:2501) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Metatropic dysplasia | (Orphanet:2635) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Micro syndrome | (Orphanet:2510) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
Microcephalic primordial dwarfism, Alazami type | (Orphanet:319671) |
Microcephaly - brachydactyly - kyphoscoliosis | (Orphanet:3433) |
Microphthalmia, Lenz type | (Orphanet:568) |
Mikati-Najjar-Sahli syndrome | (Orphanet:2558) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Mohr-Tranebjaerg syndrome | (Orphanet:52368) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Mosaic trisomy 8 | (Orphanet:96061) |
Mosaic trisomy 9 | (Orphanet:99776) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucolipidosis type 3 | (Orphanet:577) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 3 | (Orphanet:581) |
Mucopolysaccharidosis type 4 | (Orphanet:582) |
Mucopolysaccharidosis type 4A | (Orphanet:309297) |
Mucopolysaccharidosis type 4B | (Orphanet:309310) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Mulibrey nanism | (Orphanet:2576) |
Multiminicore myopathy | (Orphanet:598) |
Multiple endocrine neoplasia type 2 | (Orphanet:653) |
Multiple endocrine neoplasia type 2B | (Orphanet:247709) |
Multiple epiphyseal dysplasia type 4 | (Orphanet:93307) |
Multiple epiphyseal dysplasia, Lowry type | (Orphanet:166016) |
Multiple non-ossifying fibromatosis | (Orphanet:2029) |
Multiple osteochondromas | (Orphanet:321) |
Muscular dystrophy, Selcen type | (Orphanet:199340) |
NEMALINE MYOPATHY 1 | (OMIM:609284) |
NEMALINE MYOPATHY 2 | (OMIM:256030) |
NEMALINE MYOPATHY 9 | (OMIM:615731) |
NEU-LAXOVA SYNDROME 2 | (OMIM:616038) |
NOONAN SYNDROME 4 | (OMIM:610733) |
Nager syndrome | (Orphanet:245) |
Nail-patella syndrome | (Orphanet:2614) |
Nemaline myopathy | (Orphanet:607) |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | (Orphanet:457185) |
Nestor-Guillermo progeria syndrome | (Orphanet:280576) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neurofibromatosis type 1 | (Orphanet:636) |
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion | (Orphanet:363700) |
Neuronal intranuclear inclusion disease | (Orphanet:2289) |
Nevus comedonicus syndrome | (Orphanet:64754) |
Night blindness - skeletal anomalies - dysmorphism | (Orphanet:1390) |
Non-distal trisomy 10q | (Orphanet:1695) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
Norrie disease | (Orphanet:649) |
OSTEOGENESIS IMPERFECTA, TYPE III | (OMIM:259420) |
OSTEOGENESIS IMPERFECTA, TYPE IV | (OMIM:166220) |
OSTEOGENESIS IMPERFECTA, TYPE IX | (OMIM:259440) |
OSTEOGENESIS IMPERFECTA, TYPE VII | (OMIM:610682) |
OSTEOGENESIS IMPERFECTA, TYPE VIII | (OMIM:610915) |
OSTEOGENESIS IMPERFECTA, TYPE X | (OMIM:613848) |
OSTEOGENESIS IMPERFECTA, TYPE XI | (OMIM:610968) |
OSTEOGENESIS IMPERFECTA, TYPE XII | (OMIM:613849) |
OSTEOGENESIS IMPERFECTA, TYPE XV | (OMIM:615220) |
Occipital horn syndrome | (Orphanet:198) |
Oculo-palato-cerebral syndrome | (Orphanet:2714) |
Oculo-reno-cerebellar syndrome | (Orphanet:2715) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Okihiro syndrome | (Orphanet:93293) |
Oliver syndrome | (Orphanet:2920) |
Omphalocele syndrome, Shprintzen-Goldberg type | (Orphanet:3164) |
Orofaciodigital syndrome type 2 | (Orphanet:2751) |
Orofaciodigital syndrome type 5 | (Orphanet:2919) |
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa | (Orphanet:2653) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteogenesis imperfecta | (Orphanet:666) |
Osteogenesis imperfecta type 3 | (Orphanet:216812) |
Osteogenesis imperfecta type 4 | (Orphanet:216820) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteomesopyknosis | (Orphanet:2777) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 1 | (Orphanet:90650) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS | (OMIM:615704) |
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | (OMIM:615895) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | (OMIM:615851) |
POSTERIOR COLUMN ATAXIA | (OMIM:176250) |
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED | (OMIM:177850) |
Pachydermoperiostosis | (Orphanet:2796) |
Parastremmatic dwarfism | (Orphanet:2646) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pericardial and diaphragmatic defect | (Orphanet:2847) |
Perrault Syndrome | (Orphanet:2855) |
Perrault Syndrome 1 | (OMIM:233400) |
Peters-plus syndrome | (Orphanet:709) |
Pilotto syndrome | (Orphanet:2894) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Poland syndrome | (Orphanet:2911) |
Polyglucosan body myopathy type 1 | (ORPHA:397937) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Postaxial polydactyly - dental and vertebral anomalies | (Orphanet:2916) |
Posterior column ataxia - retinitis pigmentosa | (Orphanet:88628) |
Prader-Willi syndrome | (Orphanet:739) |
Prata-Liberal-Goncalves syndrome | (Orphanet:2956) |
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome | (Orphanet:276432) |
Primary hypergonadotropic hypogonadism - partial alopecia | (Orphanet:2232) |
Progressive myoclonic epilepsy type 6 | (Orphanet:280620) |
Progressive pseudorheumatoid arthropathy of childhood | (Orphanet:1159) |
Proteus syndrome | (Orphanet:744) |
Proteus-like syndrome | (Orphanet:2969) |
Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
Prune belly syndrome | (Orphanet:2970) |
Pseudoachondroplasia | (Orphanet:750) |
Pseudodiastrophic dysplasia | (Orphanet:85174) |
Pseudoprogeria syndrome | (Orphanet:2985) |
Pseudoxanthoma elasticum | (Orphanet:758) |
Pycnodysostosis | (Orphanet:763) |
Pyle disease | (Orphanet:3005) |
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION | (OMIM:268050) |
RETT SYNDROME, CONGENITAL VARIANT | (OMIM:613454) |
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA | (OMIM:610319) |
Ramon syndrome | (Orphanet:3019) |
Recombinant 8 syndrome | (Orphanet:96167) |
Renpenning syndrome | (Orphanet:3242) |
Rett syndrome | (Orphanet:778) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Riboflavin transporter deficiency | (Orphanet:97229) |
Richieri Costa-da Silva syndrome | (Orphanet:3101) |
Rigid spine syndrome | (Orphanet:97244) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Ruvalcaba syndrome | (Orphanet:3121) |
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY | (OMIM:181405) |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 1 | (OMIM:181800) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SMITH-MCCORT DYSPLASIA 1 | (OMIM:607326) |
SOTOS SYNDROME 2 | (OMIM:614753) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 | (OMIM:606002) |
SPONASTRIME dysplasia | (Orphanet:93357) |
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE | (OMIM:609813) |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE | (OMIM:609223) |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED | (OMIM:313400) |
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS | (OMIM:609616) |
STEEL SYNDROME | (OMIM:615155) |
STEVENSON-CAREY SYNDROME | (OMIM:611961) |
STICKLER SYNDROME, TYPE I | (OMIM:108300) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Say-Barber-Miller syndrome | (Orphanet:3132) |
Scheie syndrome | (Orphanet:93474) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Seckel syndrome | (Orphanet:808) |
Senior-Loken syndrome 8 | (OMIM:616307) |
Sheldon-Hall syndrome | (Orphanet:1147) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Short-rib thoracic dysplasia 3 with or without polydactyly | (OMIM:613091) |
Shoulder and thorax deformity - congenital heart disease | (Orphanet:1940) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Shwachman-Diamond syndrome | (Orphanet:811) |
Sialidosis type 1 | (Orphanet:812) |
Sialuria | (Orphanet:3166) |
Sillence syndrome | (Orphanet:3168) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Sjögren-Larsson syndrome | (Orphanet:816) |
Skeletal dysplasia - epilepsy - short stature | (Orphanet:1858) |
Skeletal dysplasia - intellectual deficit | (Orphanet:1436) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Smith-McCort dysplasia | (Orphanet:178355) |
Solitary median maxillary central incisor syndrome | (Orphanet:2286) |
Sotos syndrome | (Orphanet:821) |
Spastic paraplegia-optic atrophy-neuropathy syndrome | (Orphanet:320406) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 25 | (Orphanet:101111) |
Spinocerebellar ataxia with axonal neuropathy type 2 | (Orphanet:64753) |
Split hand - split foot - deafness | (Orphanet:71271) |
Spondylocamptodactyly syndrome | (Orphanet:3180) |
Spondylocarpotarsal synostosis | (Orphanet:3275) |
Spondylocostal dysostosis - anal and genitourinary malformations | (Orphanet:94095) |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type | (Orphanet:93346) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Spondyloepiphyseal dysplasia tarda | (Orphanet:93284) |
Spondylometaphyseal dysplasia - cone-rod dystrophy | (Orphanet:85167) |
Spondylometaphyseal dysplasia, 'corner fracture' type | (Orphanet:93315) |
Spondylometaphyseal dysplasia, Kozlowski type | (Orphanet:93314) |
Spondylometaphyseal dysplasia, Schmidt type | (Orphanet:93316) |
Sprengel deformity | (Orphanet:3181) |
Steinert myotonic dystrophy | (Orphanet:273) |
Stickler syndrome | (Orphanet:828) |
Stoll-Alembik-Finck syndrome | (Orphanet:3200) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Symbrachydactyly of hands and feet | (Orphanet:1570) |
Symptomatic form of Coffin-Lowry syndrome in female carriers | (Orphanet:276630) |
Synaptic congenital myasthenic syndromes | (Orphanet:98915) |
Synostosis - microcephaly - scoliosis | (Orphanet:3268) |
Syringomyelia | (Orphanet:3280) |
TATTON-BROWN-RAHMAN SYNDROME | (OMIM:615879) |
TEMPLE SYNDROME | (OMIM:616222) |
TENORIO SYNDROME | (OMIM:616260) |
THORACOLARYNGOPELVIC DYSPLASIA | (OMIM:187760) |
TMCO1 defect syndrome | (Orphanet:228407) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I | (OMIM:190350) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE III | (OMIM:190351) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Terminal transverse defects of arm | (Orphanet:93937) |
Tetrasomy 18p | (Orphanet:3307) |
Thoracolaryngopelvic dysplasia | (Orphanet:3317) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Torticollis - keloids - cryptorchidism - renal dysplasia | (Orphanet:3341) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Trichodermodysplasia - dental alterations | (Orphanet:3353) |
Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
Trisomy 13 | (Orphanet:3378) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 4p | (Orphanet:1738) |
Trisomy 5p | (Orphanet:1742) |
Trisomy 9p | (Orphanet:236) |
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME | (OMIM:300280) |
VACTERL/VATER association | (Orphanet:887) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
VERHEIJ SYNDROME | (OMIM:615583) |
WAGR syndrome | (Orphanet:893) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Weaver syndrome | (Orphanet:3447) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Weismann-Netter syndrome | (Orphanet:3344) |
Williams syndrome | (Orphanet:904) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Charcot-Marie-Tooth disease type 1 | (Orphanet:101075) |
X-linked Charcot-Marie-Tooth disease type 2 | (Orphanet:101076) |
X-linked Charcot-Marie-Tooth disease type 3 | (Orphanet:101077) |
X-linked Charcot-Marie-Tooth disease type 4 | (Orphanet:101078) |
X-linked Charcot-Marie-Tooth disease type 5 | (Orphanet:99014) |
X-linked centronuclear myopathy | (Orphanet:596) |
X-linked congenital generalized hypertrichosis | (Orphanet:79495) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked sideroblastic anemia - ataxia | (Orphanet:2802) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Zimmermann-Laband syndrome | (Orphanet:3473) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | (OMIM:607259) |