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15q11q13 microduplication syndrome 1q21.1 microduplication syndrome,Autosomal dominant non-syndromic intellectual disability 22q11.2 deletion syndrome 22q11.2 deletion syndrome,Rare chromosomal anomaly 22q11.2 duplication syndrome,Partial deletion of the long arm of chromosome 22,Partial duplication of the long arm of chromosome 22,Rare chromosomal anomaly 22q11.2 duplication syndrome,Rare chromosomal anomaly 47,XYY syndrome 48,XXXY syndrome 49,XXXXY syndrome,NON RARE IN EUROPE: Klinefelter syndrome 8p inverted duplication/deletion syndrome ADNP syndrome AL amyloidosis,Multiple myeloma,Tumor of hematopoietic and lymphoid tissues APC-related attenuated familial adenomatous polyposis,Cowden syndrome,Familial adenomatous polyposis,Generalized juvenile polyposis/juvenile polyposis coli,Juvenile polyposis of infancy,MUTYH-related attenuated familial adenomatous polyposis,Peutz-Jeghers syndrome ATTRV30M amyloidosis Aarskog-Scott syndrome Abetalipoproteinemia,Choreoacanthocytosis,McLeod neuroacanthocytosis syndrome Achondroplasia Achondroplasia,Beckwith-Wiedemann syndrome,Osteopetrosis and related disorders,Phocomelia Achondroplasia,Fibrous dysplasia of bone Achondroplasia,Primary bone dysplasia Achondroplasia,Silver-Russell syndrome,Spondyloepiphyseal dysplasia congenita Acid sphingomyelinase deficiency,Chronic neurovisceral acid sphingomyelinase deficiency,Chronic visceral acid sphingomyelinase deficiency,Infantile neurovisceral acid sphingomyelinase deficiency,Niemann-Pick disease type C Acid sphingomyelinase deficiency,Niemann-Pick disease type C Acquired cutis laxa,Autosomal dominant cutis laxa,Autosomal recessive cutis laxa type 1,Autosomal recessive cutis laxa type 2,Autosomal recessive cutis laxa type 2 Acquired generalized lipodystrophy,Primary lipodystrophy Acrodysostosis Acromegaly,Addison disease,Cushing disease,Disease associated with non-acquired combined pituitary hormone deficiency,NON RARE IN EUROPE: Aldosterone-producing adenoma,Rare endocrine disease Acromegaly,Cushing disease,Pituitary adenoma,Pituitary deficiency,Pituitary gigantism,Primary adrenal insufficiency Acromegaly,Cushing disease,Pituitary deficiency Acromegaly,Cushing disease,Rare hypothalamic or pituitary disease Acromegaly,Hereditary arginine vasopressin deficiency,Non-acquired panhypopituitarism,Non-functioning pituitary adenoma,OBSOLETE: Cushing syndrome,Pituitary deficiency,Sheehan syndrome,TSH-secreting pituitary adenoma Acute leukemia of ambiguous lineage,Acute lymphoblastic leukemia,Acute undifferentiated leukemia,Precursor B-cell acute lymphoblastic leukemia Acute lung injury,Rare pulmonary disease Acute lymphoblastic leukemia,Lymphoma,Tumor of hematopoietic and lymphoid tissues Acute myeloid leukemia,Tumor of hematopoietic and lymphoid tissues Acute transverse myelitis,Radiation myelitis Addison disease,Congenital adrenal hyperplasia,OBSOLETE: Cushing syndrome Addison disease,Congenital adrenal hyperplasia,OBSOLETE: Cushing syndrome,Rare surgically correctable form of primary aldosteronism Adenosarcoma of the cervix uteri,Adenosarcoma of the corpus uteri,Alveolar rhabdomyosarcoma,Alveolar soft tissue sarcoma,Angiosarcoma,Bone sarcoma,Carcinosarcoma of the cervix uteri,Carcinosarcoma of the corpus uteri,Carney-Stratakis syndrome,Rare tumor,Soft tissue sarcoma Adenylosuccinate lyase deficiency Adiposis dolorosa,Primary lymphedema Adrenocortical carcinoma Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Alagille syndrome Alagille syndrome,Isolated biliary atresia,Progressive familial intrahepatic cholestasis,Syndromic biliary atresia Alkaptonuria Allan-Herndon-Dudley syndrome Allan-Herndon-Dudley syndrome,Chromosome X structural anomaly,Partington syndrome,Proximal Xq28 duplication syndrome Alpha-1-antitrypsin deficiency Alpha-1-antitrypsin deficiency,Budd-Chiari syndrome,Rare hepatic disease,Wilson disease Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Alpha-thalassemia Alpha-thalassemia,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,Beta-thalassemia,Sickle cell anemia Alpha-thalassemia,Beta-thalassemia Alpha-thalassemia,Beta-thalassemia,Sickle cell anemia Alpha-thalassemia,Sickle cell anemia Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Alport syndrome Alport syndrome,Autosomal dominant polycystic kidney disease,Autosomal recessive polycystic kidney disease,Cystinosis,Rare genetic renal disease Alström syndrome Alström syndrome,Autosomal dominant polycystic kidney disease,Bardet-Biedl syndrome,Jeune syndrome,Joubert syndrome,Senior-Boichis syndrome Alternating hemiplegia of childhood Amoebic keratitis Amyloidosis Amyloidosis,Mast cell leukemia,Myelodysplastic syndrome,Plasmacytoma,Tumor of hematopoietic and lymphoid tissues Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis,Congenital muscular dystrophy,Duchenne and Becker muscular dystrophy,Facioscapulohumeral dystrophy,Proximal spinal muscular atrophy Amyotrophic lateral sclerosis,Congenital muscular dystrophy,Neuromuscular disease,Proximal spinal muscular atrophy Amyotrophic lateral sclerosis,Huntington disease,Myasthenia gravis,Narcolepsy type 1,Rare ataxia Anaplastic large cell lymphoma,Mantle cell lymphoma,Primary effusion lymphoma,Primary pulmonary lymphoma,Thyroid lymphoma,Tumor of hematopoietic and lymphoid tissues,Waldenström macroglobulinemia Angelman syndrome Angelman syndrome,Isovaleric acidemia Angelman syndrome,Isovaleric acidemia,Rare inborn errors of metabolism Aniridia-cerebellar ataxia-intellectual disability syndrome,Anterior segment developmental anomaly,Autosomal recessive anterior segment dysgenesis,Developmental defect of the eye,Genetic developmental defect of the eye,Syndromic aniridia,WAGR syndrome Anorectal malformation Anorectal malformation,Cloacal exstrophy,Hirschsprung disease,Non-syndromic anorectal malformation,VACTERL/VATER association Antiphospholipid syndrome,Catastrophic antiphospholipid syndrome,Neonatal antiphospholipid syndrome Antiphospholipid syndrome,Mixed connective tissue disease,Scleroderma,Systemic lupus erythematosus Antiphospholipid syndrome,Neonatal antiphospholipid syndrome Apert syndrome Apert syndrome,Crouzon syndrome,Isolated Pierre Robin syndrome,Moebius syndrome,Treacher-Collins syndrome Arginine vasopressin deficiency Arnold-Chiari malformation type I,Syringomyelia Aromatic L-amino acid decarboxylase deficiency Aromatic L-amino acid decarboxylase deficiency,Autosomal recessive dopa-responsive dystonia,Phenylketonuria,Rare inborn errors of metabolism,Succinic semialdehyde dehydrogenase deficiency Arthrogryposis multiplex congenita Astrocytoma,Glioblastoma,High-grade astrocytoma Astrocytoma,Glioblastoma,Rare nervous system tumor Ataxia-oculomotor apraxia type 1,Ocular motor apraxia Atypical hemolytic uremic syndrome with anti-factor H antibodies,Primary membranoproliferative glomerulonephritis Autoimmune hepatitis,Autoimmune pancreatitis type 1,Autoimmune pancreatitis type 2,Primary biliary cholangitis,Primary sclerosing cholangitis Autoimmune hepatitis,Low phospholipid-associated cholelithiasis,Primary biliary cholangitis,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,Primary sclerosing cholangitis Autoimmune hepatitis,Primary sclerosing cholangitis Autoimmune thrombocytopenia Autosomal dominant cerebellar ataxia Autosomal dominant complex spastic paraplegia,Hereditary spastic paraplegia Autosomal dominant hypophosphatemic rickets,Hypophosphatasia,Hypophosphatemic rickets Autosomal dominant non-syndromic intellectual disability Autosomal dominant optic atrophy Autosomal dominant optic atrophy,Leber hereditary optic neuropathy Autosomal dominant polycystic kidney disease,Autosomal recessive polycystic kidney disease Autosomal dominant polycystic kidney disease,Autosomal recessive polycystic kidney disease,Isolated polycystic liver disease Autosomal dominant polycystic kidney disease,Autosomal recessive polycystic kidney disease,Rare renal disease Autosomal dominant pure spastic paraplegia Autosomal erythropoietic protoporphyria,Porphyria Autosomal recessive centronuclear myopathy,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Classic multiminicore myopathy,Early-onset myopathy with fatal cardiomyopathy,Familial atrial fibrillation,Hereditary myopathy with early respiratory failure,Qualitative or quantitative defects of titin,Tibial muscular dystrophy,Titin-related limb-girdle muscular dystrophy R10 Autosomal recessive hypophosphatemic rickets,Generalized arterial calcification of infancy Autosomal recessive intermediate Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Bartter syndrome,Gitelman syndrome Beckwith-Wiedemann syndrome Behçet disease Behçet disease,Diffuse cutaneous systemic sclerosis,Kawasaki disease,Limited cutaneous systemic sclerosis,Limited systemic sclerosis,Localized scleroderma,NON RARE IN EUROPE: Polymyalgia rheumatica,NON RARE IN EUROPE: Sjögren syndrome,Neonatal scleroderma,Reactive arthritis,Rheumatic fever,Sarcoidosis,Scleroderma,Systemic lupus erythematosus,Unspecified juvenile idiopathic arthritis,Vasculitis Behçet disease,Moyamoya disease,Open spinal dysraphism,Pulmonary arterial hypertension,Tuberous sclerosis complex,Williams syndrome,Wilson disease Benign familial infantile epilepsy,Early infantile epileptic encephalopathy,Rare epilepsy Beta-propeller protein-associated neurodegeneration Beta-thalassemia,Sickle cell anemia Bethlem muscular dystrophy,Ullrich congenital muscular dystrophy Birt-Hogg-Dubé syndrome,Hereditary leiomyomatosis and renal cell cancer,Von Hippel-Lindau disease Bladder exstrophy Bladder exstrophy,Exstrophy-epispadias complex Blue cone monochromatism Bone sarcoma,Rare neoplastic disease,Soft tissue sarcoma Bradyopsia,Sarcoidosis Bullous pemphigoid,Hailey-Hailey disease,Pemphigus vulgaris CDKL5-deficiency disorder CDKL5-deficiency disorder,Dravet syndrome,Epilepsy syndrome,Lennox-Gastaut syndrome,Rett syndrome CHARGE syndrome CINCA syndrome,Familial Mediterranean fever CLCN4-related X-linked intellectual disability syndrome CLN2 disease,Neuronal ceroid lipofuscinosis,OBSOLETE: Juvenile neuronal ceroid lipofuscinosis CLN2 disease,OBSOLETE: Juvenile neuronal ceroid lipofuscinosis CLOVES syndrome CLOVES syndrome,Congenital hemangioma,Klippel-Trénaunay syndrome,Parkes Weber syndrome,Rare arteriovenous malformation,Rare capillary malformation,Rare infantile hemangioma,Rare lymphatic malformation,Rare vascular disease,Rare venous malformation,Sturge-Weber syndrome CLOVES syndrome,Congenital hemangioma,Klippel-Trénaunay syndrome,Parkes Weber syndrome,Rare capillary malformation,Rare vascular disease,Rare venous malformation COL4A1/2-related familial vascular leukoencephalopathy,Familial isolated retinal arteriolar tortuosity,Familial porencephaly,Familial schizencephaly,HANAC syndrome,Pontine autosomal dominant microangiopathy with leukoencephalopathy Caudal regression syndrome,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome Celiac artery compression syndrome,Renal nutcracker syndrome,Superior mesenteric artery syndrome Central core disease,Centronuclear myopathy,Congenital myopathy with internal nuclei and atypical cores,Distal myopathy,X-linked centronuclear myopathy Cerebral arteriovenous malformation Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Congenital muscular dystrophy,Duchenne and Becker muscular dystrophy,Genetic neuromuscular disease,Myasthenia gravis,Neuromuscular disease Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Congenital muscular dystrophy,Duchenne and Becker muscular dystrophy,Genetic neuromuscular disease,Neuromuscular disease Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Congenital muscular dystrophy,Genetic neuromuscular disease,Neuromuscular disease Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Genetic neuromuscular disease,Muscular dystrophy,Neuromuscular disease Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Genetic peripheral neuropathy Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Neuromuscular disease Chilblain lupus,Discoid lupus erythematosus,Familial Chilblain lupus,Hypertrophic or verrucous lupus erythematosus,Lupus erythematosus panniculitis,Lupus erythematosus tumidus,Pediatric systemic lupus erythematosus,Rare cutaneous lupus erythematosus,Subacute cutaneous lupus erythematosus,Systemic lupus erythematosus Cholesteryl ester storage disease,Lysosomal acid lipase deficiency,Lysosomal disease,Wolman disease Chordoma Chronic inflammatory demyelinating polyneuropathy Chronic inflammatory demyelinating polyneuropathy,Guillain-Barré syndrome,Multifocal motor neuropathy Chronic inflammatory demyelinating polyneuropathy,Guillain-Barré syndrome,Rare peripheral neuropathy Chronic intestinal failure Chronic intestinal pseudoobstruction Chronic myeloid leukemia Chronic myeloid leukemia,Tumor of hematopoietic and lymphoid tissues Chronic thromboembolic pulmonary hypertension,Idiopathic pulmonary arterial hypertension,Idiopathic/heritable pulmonary arterial hypertension,Pulmonary arterial hypertension,Pulmonary arterial hypertension associated with another disease,Rare pulmonary hypertension Chronic visceral acid sphingomyelinase deficiency,Infantile neurovisceral acid sphingomyelinase deficiency,Niemann-Pick disease type C Chédiak-Higashi syndrome,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Hermansky-Pudlak syndrome,Ocular albinism,Oculocutaneous albinism Classic Hodgkin lymphoma,Lymphoma,Non-Hodgkin lymphoma,Tumor of hematopoietic and lymphoid tissues Classic glucose transporter type 1 deficiency syndrome Classical Ehlers-Danlos syndrome Classical Ehlers-Danlos syndrome,Ehlers-Danlos syndrome Classical Ehlers-Danlos syndrome,Ehlers-Danlos syndrome,Loeys-Dietz syndrome Cleft lip with or without cleft palate,Cleft palate Coffin-Lowry syndrome Cogan type Combined pituitary hormone deficiencies Common variable immunodeficiency,Primary immunodeficiency,Severe combined immunodeficiency Complex vascular malformation with associated anomalies,Cutis marmorata telangiectatica congenita,Genetic complex vascular malformation with associated anomalies,Klippel-Trénaunay syndrome,Rare combined vascular malformation,Rare genetic capillary malformation,Rare vascular malformation of major vessels,Rare venous malformation Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital disorder of glycosylation,Rare inborn errors of metabolism Congenital dyserythropoietic anemia Congenital erythropoietic porphyria,Porphyria Congenital glaucoma,Juvenile glaucoma,Neovascular glaucoma,Neurofibromatosis type 1,Optic pathway glioma,Primary early-onset glaucoma Congenital hydrocephalus,Open spinal dysraphism Congenital hydrocephalus,Open spinal dysraphism,Spina bifida and other spinal dysraphisms Congenital hyperinsulinism due to HNF4A deficiency,Congenital isolated hyperinsulinism,Hyperinsulinism due to INSR deficiency,Hyperinsulinism due to UCP2 deficiency,Hyperinsulinism-hyperammonemia syndrome Congenital hypothyroidism Congenital limb malformation,Phocomelia Congenital muscular dystrophy with intellectual disability,Rare intellectual disability Congenital muscular dystrophy,Duchenne and Becker muscular dystrophy Congenital muscular dystrophy,Duchenne and Becker muscular dystrophy,Duchenne muscular dystrophy,Genetic neuromuscular disease,Neuromuscular disease Congenital muscular dystrophy,Duchenne and Becker muscular dystrophy,Genetic neuromuscular disease,Neuromuscular disease Congenital muscular dystrophy,Duchenne muscular dystrophy Congenital muscular dystrophy,Genetic neuromuscular disease,Neuromuscular disease Congenital muscular dystrophy,Muscular dystrophy,Neuromuscular disease Cornelia de Lange syndrome Corpus callosum agenesis-neuronopathy syndrome,Isolated corpus callosum agenesis Costello syndrome Cowden syndrome Cowden syndrome,Proteus syndrome Craniopharyngioma Creatine deficiency syndrome Cutis laxa,Cutis marmorata telangiectatica congenita,Ectodermal dysplasia syndrome,Rare genetic skin disease,Rare vascular disease Cystic fibrosis Cystinosis Desmoid tumor Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Diamond-Blackfan anemia Diffuse lymphatic malformation,Gorham-Stout disease,Kaposiform lymphangiomatosis,Rare lymphatic system anomaly Discoid lupus erythematosus,Lupus erythematosus tumidus,Systemic lupus erythematosus Disorder of amino acid and other organic acid metabolism,Severe primary trimethylaminuria Distal deletion 14q,Distal duplication 14q,Mosaic trisomy 14,Ring chromosome 14 syndrome Dopa-responsive dystonia,Monoamine oxidase A deficiency,Neurometabolic disorder due to serine deficiency Down syndrome,Myoclonic-astatic epilepsy,Proximal spinal muscular atrophy,Williams syndrome Dravet syndrome Dravet syndrome,Early infantile epileptic encephalopathy Dravet syndrome,Early infantile epileptic encephalopathy,Generalized epilepsy with febrile seizures-plus,Malignant migrating focal seizures of infancy Dravet syndrome,Rett syndrome Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy,Duchenne muscular dystrophy Duchenne and Becker muscular dystrophy,Friedreich ataxia,Genetic neuromuscular disease,Myasthenia gravis,Neuromuscular disease Duchenne and Becker muscular dystrophy,Genetic neuromuscular disease,Neuromuscular disease Dunnigan type Dysostosis,Femur-fibula-ulna complex,Isolated fibular hemimelia,Isolated tibial hemimelia Dystrophic epidermolysis bullosa,Epidermolysis bullosa simplex,Inherited epidermolysis bullosa Dystrophic epidermolysis bullosa,Inherited epidermolysis bullosa EEC syndrome Early infantile epileptic encephalopathy,X-linked intellectual disability Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Ectodermal dysplasia syndrome Ehlers-Danlos syndrome Ehlers-Danlos syndrome,Marfan syndrome Ehlers-Danlos syndrome,Vascular Ehlers-Danlos syndrome Eosinophilic gastroenteritis,Eosinophilic granulomatosis with polyangiitis,Hypereosinophilic syndrome Epidermolysis bullosa simplex,Hereditary angioedema,Isolated Dandy-Walker malformation,Menkes disease,Mucopolysaccharidosis type 4A Epidermolysis bullosa simplex,Inherited epidermolysis bullosa Epilepsy syndrome,Infantile spasms syndrome Epithelioid hemangioendothelioma Esophageal atresia Exstrophy-epispadias complex FOXG1 syndrome Fabry disease Fabry disease,Gaucher disease,Glycogen storage disease due to acid maltase deficiency,Mucopolysaccharidosis Fabry disease,Gaucher disease,Mucopolysaccharidosis type 2,Wilson disease Facioscapulohumeral dystrophy Familial Mediterranean fever Familial adenomatous polyposis,Lynch syndrome Familial aortic dissection Familial cerebral cavernous malformation Familial cerebral cavernous malformation,Klippel-Trénaunay syndrome,Rare vascular disease,Von Hippel-Lindau disease Familial cerebral cavernous malformation,NON RARE IN EUROPE: Cerebral cavernous malformations Familial cerebral saccular aneurysm Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,Rare cardiac disease Familial hemophagocytic lymphohistiocytosis Familial isolated hypoparathyroidism Familial long QT syndrome Familial long QT syndrome,Timothy syndrome Familial paroxysmal ataxia Familial partial lipodystrophy Fanconi anemia Fatal familial insomnia,Sporadic human prion disease Fetal valproate spectrum disorder Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone Fragile X syndrome Fragile X syndrome,Fragile X-associated tremor/ataxia syndrome Friedreich ataxia Friedreich ataxia,Rare ataxia Full NF2-related schwannomatosis,Full schwannomatosis,Neurofibromatosis type 1 Full NF2-related schwannomatosis,Malformation syndrome with hamartosis,Neurofibromatosis type 1 Full NF2-related schwannomatosis,Neurofibromatosis type 1 Full NF2-related schwannomatosis,Vestibular schwannoma GM1 gangliosidosis,GM2 gangliosidosis,Sandhoff disease,Tay-Sachs disease GM2 gangliosidosis,Sandhoff disease,Tay-Sachs disease GNE myopathy GNE myopathy,Genetic neuromuscular disease,Neuromuscular disease Galactosemia Galactosemia,Homocystinuria due to cystathionine beta-synthase deficiency,Phenylketonuria,Tyrosinemia type 1,Tyrosinemia type 2,Tyrosinemia type 3 Gaucher disease Gaucher disease,Hereditary angioedema,Phenylketonuria Gaucher disease,Lysosomal disease Genetic nephrotic syndrome Genetic nephrotic syndrome,Genetic steroid-resistant nephrotic syndrome Genetic neurovascular malformation Glioblastoma Glomerular disease Glycine encephalopathy Glycogen storage disease Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease,Glycogen storage disease due to acid maltase deficiency Glycogen storage disease,Glycogen storage disease due to acid maltase deficiency,Glycogen storage disease due to glucose-6-phosphatase deficiency Guillain-Barré syndrome Haddad syndrome Hemophilia Hemophilia,Hemophilia A Hemophilia,Rare hemorrhagic disorder Hereditary ATTR amyloidosis Hereditary amyloidosis Hereditary angioedema Hereditary angioedema,Hereditary angioedema with C1Inh deficiency Hereditary breast cancer Hereditary chronic pancreatitis Hereditary fructose intolerance Hereditary hemorrhagic telangiectasia Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary spastic paraplegia Heritable pulmonary arterial hypertension,Idiopathic/heritable pulmonary arterial hypertension,Pulmonary arterial hypertension Hirschsprung disease Homozygous familial hypercholesterolemia,NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia Huntington disease Hydrocephaly-cerebellar agenesis syndrome,Isolated Dandy-Walker malformation,OBSOLETE: Arnold-Chiari malformation type II,Spina bifida and other spinal dysraphisms,Syringomyelia Hypophosphatasia Hypophosphatemic rickets Hypothalamic hamartomas with gelastic seizures,Pallister-Hall syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Ichthyosis Ichthyosis,Lamellar ichthyosis Idiopathic aplastic anemia,Paroxysmal nocturnal hemoglobinuria Idiopathic pulmonary fibrosis Idiopathic/heritable pulmonary arterial hypertension,Pulmonary arterial hypertension IgG4-related retroperitoneal fibrosis Immune thrombocytopenia Incontinentia pigmenti Infantile convulsions and choreoathetosis Infantile neuroaxonal dystrophy,Neurodegeneration with brain iron accumulation Inherited arrhythmogenic cardiomyopathy,Muscular channelopathy,Rare cardiac disease,Rare cardiomyopathy Inherited epidermolysis bullosa Inherited isolated arrhythmogenic cardiomyopathy Inherited retinal disorder,Leber congenital amaurosis Inherited retinal disorder,Retinitis pigmentosa Inherited retinal disorder,Retinitis pigmentosa,Usher syndrome Interstitial cystitis Isolated Klippel-Feil syndrome,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Isolated Pierre Robin syndrome,Rare disease with Pierre Robin syndrome Isolated aniridia,Syndromic aniridia Isolated microphthalmia-anophthalmia-coloboma,Microphthalmia Jacobsen syndrome,Rare chromosomal anomaly Juvenile dermatomyositis Juvenile idiopathic arthritis Juvenile idiopathic arthritis,Lupus erythematosus tumidus,NON RARE IN EUROPE: Sjögren syndrome,Scleroderma KCNQ2-related epileptic encephalopathy Kawasaki disease Kleefstra syndrome Kleine-Levin syndrome Krabbe disease Lamb-Shaffer syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Laminin subunit alpha 2-related muscular dystrophy Langerhans cell histiocytosis Large congenital melanocytic nevus Laron syndrome,Non-acquired isolated growth hormone deficiency,Turner syndrome Leber hereditary optic neuropathy Lenz type Lesch-Nyhan syndrome Leukodystrophy Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Limb-girdle muscular dystrophy Localized scleroderma,Scleroderma,Systemic sclerosis Locked-in syndrome Lymphangioleiomyomatosis Lymphoma,Tumor of hematopoietic and lymphoid tissues Lysosomal disease MAGEL2-related Prader-Willi-like syndrome Maffucci syndrome,Multiple osteochondromas,Ollier disease Malan overgrowth syndrome Malan overgrowth syndrome,Sotos syndrome Malformation syndrome with hamartosis Malformation syndrome with hamartosis,Neurofibromatosis type 1 Marfan syndrome Marshall-Smith syndrome Mastocytosis,Systemic mastocytosis Mastocytosis,Systemic mastocytosis,Tumor of hematopoietic and lymphoid tissues McCune-Albright syndrome Medium chain acyl-CoA dehydrogenase deficiency Menkes disease Metachromatic leukodystrophy Mitochondrial disease Mitochondrial myopathy Mixed connective tissue disease Moebius syndrome Monosomy 22 Monosomy 5p Mosaic variegated aneuploidy syndrome Moyamoya disease Muckle-Wells syndrome Mucolipidosis type II,Mucolipidosis type III,Sialidosis Mucopolysaccharidosis Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 3,Sanfilippo syndrome type A Mucopolysaccharidosis type 3,Sanfilippo syndrome type A,Sanfilippo syndrome type B,Sanfilippo syndrome type C,Sanfilippo syndrome type D Mucopolysaccharidosis,Tay-Sachs disease,Williams syndrome Multiple endocrine neoplasia,Multiple endocrine neoplasia type 1,Multiple endocrine neoplasia type 2,Multiple endocrine neoplasia type 2A,Multiple endocrine neoplasia type 4 Multiple myeloma,Waldenström macroglobulinemia Multiple polyglandular tumor Multiple system atrophy Multiple system atrophy,Progressive supranuclear palsy Muscular dystrophy Muscular dystrophy,Neuromuscular disease,Proximal spinal muscular atrophy Myasthenia gravis Myeloproliferative neoplasm Myhre syndrome Myotonic dystrophy NON RARE IN EUROPE: Autism NON RARE IN EUROPE: Crohn disease NON RARE IN EUROPE: Fibromuscular dysplasia of arteries NON RARE IN EUROPE: Hereditary essential tremor NON RARE IN EUROPE: Perineural cyst NON RARE IN EUROPE: Sjögren syndrome NON RARE IN EUROPE: Tourette syndrome NON RARE IN EUROPE: Trimethylaminuria,Severe primary trimethylaminuria Najm type Narcolepsy type 1 Neonatal adrenoleukodystrophy,X-linked adrenoleukodystrophy Neurodegeneration with brain iron accumulation Neurofibromatosis type 1 Nodular neuronal heterotopia,Periventricular nodular heterotopia,Sub-cortical nodular heterotopia,Subependymal nodular heterotopia Non-acquired combined pituitary hormone deficiency,Non-acquired isolated growth hormone deficiency,Silver-Russell syndrome,Sotos syndrome,Weaver syndrome Non-acquired isolated growth hormone deficiency Non-specific early-onset epileptic encephalopathy Non-specific early-onset epileptic encephalopathy,Rare epilepsy Non-specific syndromic intellectual disability Non-syndromic limb reduction defect,Thalidomide embryopathy Non-syndromic pontocerebellar hypoplasia Noonan syndrome OBSOLETE: Arnold-Chiari malformation type II,Syringomyelia OBSOLETE: Cushing syndrome Oculocerebrorenal syndrome of Lowe Oculocutaneous albinism Oculopharyngeal muscular dystrophy Ollier disease Open spinal dysraphism,Spina bifida and other spinal dysraphisms Opsoclonus-myoclonus syndrome Osteogenesis imperfecta Other metabolic disease Other metabolic disease,Rare inborn errors of metabolism Ovarian cancer PANDAS PTEN hamartoma tumor syndrome PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Pantothenate kinase-associated neurodegeneration Paroxysmal nocturnal hemoglobinuria Partial duplication of the long arm of chromosome 15 Pediatric cancer Pediatric cancer,Rare tumor Pemphigus erythematosus,Pemphigus vulgaris Pemphigus vulgaris Peutz-Jeghers syndrome Phelan-McDermid syndrome Phenylketonuria Pitt-Hopkins syndrome Pleural mesothelioma,Thymic tumor Poland syndrome Poliomyelitis,Postpoliomyelitis syndrome Porphyria Postpoliomyelitis syndrome Prader-Willi syndrome Primary biliary cholangitis Primary ciliary dyskinesia Primary hyperoxaluria Primary immunodeficiency Primary lymphedema Primary lymphedema,Rare vascular anomaly,Rare vascular disease,Vascular Ehlers-Danlos syndrome Primary sclerosing cholangitis Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Progressive supranuclear palsy Proximal Xq28 duplication syndrome Proximal spinal muscular atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 4 Proximal spinal muscular atrophy,Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy,Proximal spinal muscular atrophy type 3 Pseudomyxoma peritonei,Rare tumor Pseudoxanthoma elasticum Pulmonary arterial hypertension Pulmonary arterial hypertension,Rare pulmonary hypertension Pulmonary arterial hypertension,Scleroderma Pulmonary non-tuberculous mycobacterial infection Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome Rare ataxia Rare cardiac disease Rare cardiac disease,Rare congenital non-syndromic heart malformation Rare cardiomyopathy Rare chromosomal anomaly Rare congenital non-syndromic heart malformation Rare disorder potentially indicated for lung transplant Rare genetic eye disease Rare genetic renal disease,Rare renal disease Rare genetic skin disease,Rare skin disease Rare gynecologic or obstetric disease,Rare gynecological tumor Rare gynecological tumor Rare head and neck tumor Rare head and neck tumor,Rare tumor of salivary glands Rare hemorrhagic disorder due to a constitutional coagulation factors defect Rare hepatic disease Rare hereditary hemochromatosis,Symptomatic form of HFE-related hemochromatosis Rare hypoparathyroidism,Rare thyroid carcinoma Rare hypothyroidism,Rare thyroid disease Rare inborn errors of metabolism Rare lymphatic malformation Rare metabolic liver disease Rare metabolic liver disease,Rare tumor of liver and intrahepatic biliary tract,Rare vascular liver disease Rare neoplastic disease,Rare tumor Rare neoplastic disease,Soft tissue sarcoma Rare neoplastic disease,Tumor of hematopoietic and lymphoid tissues,Waldenström macroglobulinemia Rare pulmonary disease Rare renal disease Rare rheumatologic disease Rare syndromic intellectual disability Rare thyroid carcinoma,Rare thyroid tumor Rare thyroid disease Rare tumor Rare vascular disease Recurrent respiratory papillomatosis Relapsing polychondritis Retinitis pigmentosa Retinitis pigmentosa,Stargardt disease,Usher syndrome Retinoblastoma Rett syndrome Ring chromosome 20 syndrome SATB2-associated syndrome,SATB2-associated syndrome due to a chromosomal rearrangement,SATB2-associated syndrome due to a pathogenic variant STXBP1-related encephalopathy SYNGAP1-related developmental and epileptic encephalopathy Sandhoff disease,Tay-Sachs disease Sarcoidosis Schinzel type Schinzel-Giedion syndrome Schuurs-Hoeijmakers syndrome Scleroderma Septo-optic dysplasia spectrum Shwachman-Diamond syndrome Sickle cell anemia Sickle cell anemia,Sickle cell disease and related diseases Smith-Magenis syndrome Snyder type Spina bifida and other spinal dysraphisms Stargardt disease Stiff person spectrum disorder Sturge-Weber syndrome Succinic semialdehyde dehydrogenase deficiency Superficial siderosis Syndromic aniridia Syndromic aniridia,WAGR syndrome Syringomyelia Systemic lupus erythematosus Systemic mastocytosis Tatton-Brown-Rahman syndrome Tay-Sachs disease Tetrasomy 12p Thoracic outlet syndrome Thrombotic thrombocytopenic purpura Trisomy 18 Tuberous sclerosis complex Tubulinopathy-associated dysgyria Turner syndrome Twin to twin transfusion syndrome Type 11 collagen-related bone disorder Unclassified autoinflammatory syndrome Usher syndrome Usher syndrome type 1 Uveitis Vasculitis Von Hippel-Lindau disease WAGR syndrome White-Sutton syndrome Williams syndrome Wilson disease Wolf-Hirschhorn syndrome Wolfram syndrome X-linked centronuclear myopathy X-linked intellectual disability X-linked reticulate pigmentary disorder Xeroderma pigmentosum classic type,Autosomal recessive cutis laxa type 2A,Autosomal recessive cutis laxa type 2B,Cutis laxa,Cutis laxa with severe pulmonary gastrointestinal and urinary anomalies,Cutis laxa-Marfanoid syndrome,De Barsy syndrome,Dermatoleukodystrophy,Occipital horn syndrome,RIN2 syndrome genetic forms,Laron syndrome,Rare endocrine growth disease
