Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

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Oculo-cerebral dysplasia Unilateral aplasia of the optic nerve Parkinson disease 2 JBTS5 OSCCA Osteochondrosis of phalangeal epiphyses with cryptophthalmus and early onset Parkinson disease Osteochondritis of phalangeal contralateral microphthalmus autosomal recessive Joubert syndrome 5 Oral squamous cell carcinoma epiphyses bejel Juvenile parkinsonism juvenile autosomal recessive Jejunal atresia with renal adysplasia OSF Thiemann epiphyseal disease Njovera Parkinson disease early onset with mental Jequier Kozlowski skeletal dysplasia Oral submucous fibrosis Osteoarthropathy of fingers familial Endemic syphilis retardation Parkinsonism Cloverleaf skull and bone dysplasias OSMF Thiemann's disease Laxova Brown Hogan Facies unusual arthrogryposis Frenga syndrome advanced skeletal maturation Osler-rendu-weber syndrome 2 Thies Reis syndrome Basal ganglia disorder with Telangiectasia hereditary Nonvenereal syphilis mental retardation Jerash type Spinal muscular atrophy hemorrhagic type 2 Thies-Reis syndrome Thin ribs thin tubular bones Hereditary motor neuropathy Jerash abnormal facies and intrauterine Dichuchwa Waisman syndrome type ORW2 growth retardation X-linked recessive basal thin tubular bones abnormal facies Belgian type Mental retardation ganglia disorder with mental Jerash type Hereditary motor hereditary hemorrhagic type 2 and intrauterine growth retardation syndrome retardation Early-onset regressive form of neuropathy Telangiectasia Thin ribs Bellini Chiumello Rinoldi syndrome Wedge-shaped epiphyses of the knees with mental retardation and metaphyseal dysplasia Spinal muscular atrophy Jerash type Osler-Vaquez disease Thin ribs tubular bones dysmorphism short stature Metaphyseal anadysplasia Motor neuropathy distal Jerash type Osseous heteroplasia Thiolase deficiency Ear-patella-short stature distal hereditary motor Jerash type Thiopurine s-methyltranferase Bellini-Chiumello-Rimoldi syndrome Mental retardation short stature syndrome Neuropathy Ossification anomalies deficiency wedge shaped epiphyses of knees east-African Trypanosomiasis HMNJ psychomotor development delay Thomas Jewett Raines syndrome Ben Ari Shuper Mimouni syndrome Sleeping sickness distal Jerash type Motor neuropathy osteitis Thomas syndrome Agenesis of corpus callosum with east-African type double urinary collecting system Spondylometaphyseal trigonocephaly and minor anomalies trigonocephaly and minor anomalies dysplasia MNDJ Osteomyelitis Thompson Baraitser syndrome Agenesis of corpus callosum with Eastern equine Jessner's benign lymphocytic double urinary collecting system Corpus callosum agenesis double encephalomyelitis infiltration of the skin osteomyelitis variolosa Thomsen and Becker disease urinary collecting system Eastern equine encephalitis Jeune syndrome Osteoblastoma Thomsen disease Benallegue Lacete syndrome EEE Asphyxiating thoracic dystrophy Osteochondritis deformans MyC Myotonia congenita autosomal Benedict Augustin Morel's ear Ear deformity characterized by an Eastman Bixler syndrome Infantile thoracic dystrophy Legg-Calve-Perthes disease dominant abnormal development of the helix Chondroectodermal dysplasia-like anthelix and scaphoid fossa Faciocardiorenal syndrome syndrome Legg-CalvT-Perthes syndrome Congenital myopathy Thoracic pelvic phalangeal Osteochondritis deformans autosomal dominant Myotonia Morel's ear anthelix and scaphoid fossa Ear deformity characterized by an Eaton Lambert syndrome dystrophy juvenile congenita abnormal development of the helix LEMS Jeune syndrome situs inversus Osteochondritis dissecans Becker disease Benign angiitis of the central nervous Osteochondrodysplasia system Lambert Eaton syndrome job syndrome thrombocytopenia hydrocephalus Myotonia congenita Myasthenic-Myopathic Hyperimmunoglobulin E recurrent BACNS syndrome of Lambert-Eaton infection syndrome Osteochondrodysplatic nanism Batten Turner congenital myopathy Benign astrocytoma EB acquisita Hyper-IgE syndrome Osteochondrodysplatic dwarfism Thong Douglas Ferrante syndrome Benign autosomal dominant Acquired form of epidermolysis recurrent infection syndrome Short stature deafness neutrophil myopathy bullosa Hyperimmunoglobulin E Osteochondroma dysfunction dysmorphism Hyperimmunoglobulinemia E Thoracic aortic aneurysm and/or Benign congenital hypotonia Benign epilepsy of childhood with Epidermolysis bullosa acquisita syndrome Osteochondromatosis dissection rolandic spikes Ebola virus disease Johnson Munson syndrome Osteochondrosis deformans tibiae Thoracic aortic aneurysm BECRS ebpa Aphalangy with Hemivertebrae hemivertebrae and visceral Osteochondrosis of the tarsal bone Thoracic celosomia Aplasia cutis congenita with malformations Aphalangy of the Thoracic dysplasia hydrocephalus Benign essential tremor syndrome gastrointestinal atresia hands and feet Aphalangy of the hands and feet Aseptic necrosis of the tarsal bone syndrome Epidermolysis bullosa with hemivertebrae and visceral Benign exophthalmos syndrome pyloric atresia malformations Osteochondritis of tarsal bone Osteochondrosis of the tibial Thoracic outlet syndrome Benign familial hematuria EB-PA Johnson neuroectodermal syndrome tubercle TOS Alopecia anosmia deafness Thoraco abdominal enteric Benign familial infantile epilepsy Carmi syndrome hypogonadism syndrome Osgood-Schlatter disease Osteochondritis of the tibial duplication Benign familial infantile seizures EBR2A AADH syndrome tubercle Thoraco-abdominal syndrome Epidermolysis bullosa inversa Aseptic necrosis of the tibial Benign idiopathic neonatal seizures dystrophica Johnson-Mcmillin syndrome tubercle Thoracolaryngopelvic dysplasia Benign lymphoma JEB-I Johnston Aarons Schelley syndrome osteoclastic hyperplasia Barnes syndrome Junctional epidermolysis Autosomal dominant Benign mesenchymal melanoma bullosa inversa Arthrogryposis with Hyperkeratosis hyperkeratosis and severe Epiphyseal stippling syndrome thoracolaryngopelvic dysplasia hypoplasia of the posterior columns Osteodysgenesis multisynostotic TiFche-Jadassohn nevus EBS 2 Joint contractures Joint contractures hyperkeratosis and severe hypoplasia of the with fractures Thoracomelic dysplasia Blue neuronevus Generalized EBS posterior columns Antley-Bixler syndrome Rivera-Perez-Salas syndrome Koebner type Epidermolysis Johnston-Aarons-Schelley Multisynostotic osteodysgenesis Jadassohn-TiFche nevus bullosa simplex syndrome with long bone fractures Thoracopelvic dysostosis Joint contractures with other multisynostotic with fractures Blue nevus ebsmp abnormalities Osteodysgenesis Trapezoidocephaly-synostosis Three day measles Jadassohn-TiFche syndrome EBS with mottled pigmentation palmo-plantar punctate keratoses and childhood Aase Smith syndrome syndrome Rubella blistering Speckled Hydrocephalus cleft palate joint Osteodysplasia familial anderson Benign mucosal pemphigoid hyperpigmentation Speckled hyperpigmentation palmo-plantar punctate contractures type RUB keratoses and childhood Osteodysplastic dwarfism Corsello Benign myoclonic epilepsy of infancy blistering Joint instability syndrome type Thrombasthenia Epidermolysis bullosa simplex type 11 (formerly) Ehlers-danlos thrombasthenia Glanzmann and Myoclonic epilepsy of infancy with mottled pigmentation syndrome Osteodysplasty deafness of internal ear Syndrome 219

enign neonatal with Myokymia with triphalangia of thumbs Triphalangeal thumbs Epilepsy EBS-MP familial Joint laxity Osteoectasia familial thrombocytopathy deafness Epilepsy benign neonatal with Ehlers-danlos syndrome type 11 familial idiopathic Myokymia Ebstein anomaly (formerly) Hyperphosphatasia Schlegelberger Grote syndrome Syndrome with triphalangia of Convulsions benign familial neonatal Hyperostosis corticalis deformans thumbs thrombasthenia Glanzmann with Myokymia Ebstein's malformation EDS 11 (formerly) juvenilis and deafness of internal ear benign familial neonatal with Hyperphosphatasia familial Myokymia Convulsions Eccentrochondrodysplasia Familial joint instability syndrome idiopathic Thromboangiitis obliterans Myokymia with neonatal epilepsy ecchondromata Articular hypermobility syndrome Juvenile Paget disease Disease Buerger's BFNC/Myokymia syndrome Hip dysplasia Jones Hersh Yusk syndrome Paget disease juvenile buerger disease Benign paroxysmal torticolis of Aplasia cutis cleft palate Hyperphosphatasemia chronic infancy enchondromata epidermolysis congenital idiopathic Thrombocytopathy Benign pseudohypertrophic muscular chronic congenital idiopathic dystrophy Muscular dystrophy Eccrine acrospiroma Jones syndrome Hyperphosphatasemia Thrombocytopathy asplenia miosis pseudohypertrophic progressive Fibromatosis gingival progressive Thrombocytopenia absent radius Becker type Eccrine spiradenoma deafness Gingival fibromatosis with familial Osteoectasia syndrome Becker's muscular dystrophy Echinococcus granulosus sensorineural hearing loss osteofibrous dysplasia Absent radii and thrombocytopenia Gingival fibromatosis with Osteogenesis imperfecta perinatal Thrombocytopenia cerebellar BEMD Echinococcosis progressive deafness lethal autosomal recessive hypoplasia short stature Thrombocytopenia chromosome BMD Alveolar echinococcosis Jorgenson Lenz syndrome OI type 2B breakage Familial thrombocytopenia associated with platelet Blepharophimosis radioulnar autoantibodies and chromosome Muscular dystrophy Becker type Eclampsia synostosis OI2B breakage Thrombocytopenia autosomal Becker muscular dystrophy Ecp syndrome Joubert syndrome 2 type 2B Osteogenesis imperfecta perinatal lethal autosomal dominant Becker type Muscular dystrophy recessive Osteogenesis pseudohypertrophic progressive ectodermal defects Cerebellooculorenal syndrome 2 imperfecta Thrombocytopenia 2 Osteogenesis imperfecta type 1 Helmerhorst Heaton Crossen Becker type Muscular dystrophy Hay wells syndrome CORS2 with dentinogenesis imperfecta syndrome benign recurrent intrahepatic 1 autosomal dominant Cholestasis 'Ectodermal dysplasia Ectodermal dysplasia absent dermatoglyphic pattern with JBTS2 type 1A OI Thrombocytopenia change in nails and simian Thrombocytopenia multiple BRIC1 crease Joubert syndrome 6 type 1A Osteogenesis imperfecta congenital anomaly Summerskill syndrome Basan syndrome JBTS6 OI type 1A type 1 with dentinogenesis Gardner Morrisson Abbot syndrome benign recurrent intrahepatic 2 Ectodermal dysplasia absent Joubert syndrome bilateral imperfecta Osteogenesis Thrombocytopenia Paris-Trousseau Cholestasis dermatoglyphics absent dermatoglyphic pattern chorioretinal coloboma imperfecta type with change in nails and simian Osteogenesis imperfecta with BRIC2 crease Ectodermal dysplasia Ectodermal dysplasia alopecia Dekaban-Arima syndrome opalescent teeth Paris-Trousseau thrombocytopenia Benson's syndrome preaxial polydactyly Ectodermal dysplasia and jpa Osteolysis hereditary multicentric Paris-Trousseau syndrome Posterior cortical atrophy cerebellar ataxia Pilocytic astrocytoma juvenile Hereditary multicentric osteolysis Thrombocytopenia X-linked Bentham Driessen Hanveld Cerebellar ataxia ectodermal syndrome dysplasia ectodermal dysplasia and Juvenile pilocytic astrocytoma Torg osteolysis syndrome Thrombocytopenic purpura lacrimal duct abnormality Tetra- Thromboembolic pulmonary Beradinelli-Seip syndrome amelia Tetra-amelia ectodermal dysplasia and lacrimal duct JPMR Osteolysis syndrome recessive hypertension Berk tabatznik syndrome abnormality Madokoro Ohdo Sonoda Juvenile polymyalgia rheumatica Osteomalacia TEPH Berlin Breakage syndrome syndrome Ectodermal dysplasia arthrogryposis diabetes Juvenile cranial arteritis Osteonecrosis Thrombomodulin anomalies Berman syndrome mellitus Juvenile temporal arteritis AVN Thrombophilia hereditary Ectodermal dysplasia Bartalos Thrombophilia hereditary due to pc Mucolipidosis type 4 type Ectodermal dysplasia Berlin Juvenile giant cell arteritis ON deficiency Ganglioside sialidase deficiency type JGCA Avascular necrosis PROC deficiency Ganglioside neuraminidase Ectodermal dysplasia deficiency blindness JPS Osteopaenia Osteopathia striata associated with hereditary Thrombophilia Ectodermal dysplasia familial dermopathy and white ML 4 ectrodactyly macular dystrophy juvenile intestinal Polyposis forelock PC deficiency Ectodermal dysplasia Osteopathia striata with hypohidrotic autosomal pigmentary dermopathy including hereditary due to pc deficiency ML has Disorder4 dominant Ectodermal dysplasia Polyposis juvenile intestinal white forelock Thrombophilia hypohidrotic hypothyroidism familial of entire gastrointestinal tract due to Protein C deficiency Bernard-Horner Syndrome ciliary diskinesia Polyposis Whyte Murphy syndrome Congenital thrombotic disease Ectodermal dysplasia Polyposis familial of entire Osteopathia striata cranial Oculosympathetic Palsy hypohidrotic X linked gastrointestinal tract sclerosis Thrombotic Storm Christ-Siemens-Touraine osteopenia and camptodactyly Catastrophic Antiphospholipid Horner's syndrome syndrome Ectodermal dysplasia Juvenile polyposis syndrome Prader-Willi habitus Syndrome Beryllium pneumonosis Margarita island type jSSc Urban Rogers Meyer syndrome Moschcowitz disease Bustos Simosa Pinto Cisternas Osteopetrosis autosomal dominant Chronic beryllium lung disease syndrome Juvenile linear scleroderma type 1 Thumb absence hypoplastic halluces Thumb absent short stature immune Beryllium granulomatosis Ectodermal dysplasia type 4 Juvenile Scleroderma OPTA1 deficiency Autosomal recessive Osteopetrosis with neuroaxonal Thumb ankylosis with mental Chronic beryllium disease ectodermal dysplasia Ectodermal dysplasia Juvenile systemic scleroderma dysplasia retardation Bessel-Hagen disease Margarita type Juvenile-onset scleroderma Osteoporosis juvenile Piussan Lenaerts Mathieu syndrome Ectodermal dysplasia mental Thumb deformity alopecia Osteochondromas retardation CNS malformation Ectodermal dysplasia mental Juberg hayward syndrome juvenile Osteoporosis pigmentation anomaly Beta-galactosidase-1 deficiency retardation syndactyly Juberg Marsidi syndrome Idiopathic juvenile osteoporosis Thumb hypoplastic betamannosidase deficiency Ectodermal dysplasia with Juberg-Marsidi Mental Retardation ijo Thumb deformity 220