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  • Cancer Genetics
    • Adenomas multiple colorectal
    • Bannayan-Riley-Ruvalcaba Syndrome
    • Basal Cell Nevus Syndrome - BCNS - Gorlin syndrome
    • Birt-Hogg-Dubé syndrome
    • Breast-ovarian cancer, familial
    • Chronic Lymphocytic Leukaemia (CLL)
    • Cowden Syndrome
    • Familial Adenomatous Polyposis - FAP
    • Familial Adenomatous Polyposis - FAP1
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 1
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 2
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 4
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 5
    • Hereditary Prostate Cancer - HPC9
    • Juvenile polyposis syndrome - JPS
    • Ovarian cancer, familial
    • Pancreatic Cancer
    • Peutz-Jeghers syndrome
    • Prostate cancer
    • PTEN hemartoma tumor syndrome
    • Wilms tumor
  • Cardiac Disorders
    • Amyloidosis hereditary transthyretin-related
    • Arrhythmogenic right ventricular dysplasia 10
    • Arrhythmogenic right ventricular dysplasia 11
    • Arrhythmogenic right ventricular dysplasia 12
    • Arrhythmogenic right ventricular dysplasia 5
    • Arrhythmogenic right ventricular dysplasia 8
    • Arrhythmogenic right ventricular dysplasia 9
    • Arrhythmogenic right ventricular dysplasia/cardiomyopathy - ARVD - ARVC
    • Atrial Fibrillation
    • Atrial septal defect 2
    • Atrial septal defect 7 with or without AV conduction defects
    • Atrial Standstill
    • Atrioventricular septal defect 4
    • Barth Syndrome
    • Bradychardia
    • Brugada Syndrome
    • Brugada syndrome 8
    • Cardiac Arrhythmia
    • Cardiomyopathy
    • Cardiomyopathy Infantile type I muscle fibre disease recessive
    • Carney complex type 1
    • Catecholaminergic Polymorphic Ventricular Tachycardia - CPVT
    • Catecholaminergic Polymorphic Ventricular Tachycardia 1 - CPVT1
    • Catecholaminergic Polymorphic Ventricular Tachycardia 2 - CPVT2
    • Catecholaminergic Polymorphic Ventricular Tachycardia 4 - CPVT4
    • Centronuclear myopathies recessive - CNM
    • Conduction Defects
    • Congenital heart defects
    • Core myopathy recessive - CM
    • Danon disease
    • Dilated cardiomyopathy
    • Dilated cardiomyopathy with woolly hair and keratoderma - Carvajal syndrome
    • Emery Dreifuss muscular dystrophy
    • Fabry Disease
    • Familial Amyloid Polyneuropathy
    • Hereditary myopathy with early respiratory failure - HMERF
    • Holt-Oram syndrome
    • Hypertrophic cardiomyopathy
    • Idiopathic Ventricular Fibrillation
    • Jervell-Lange Nielsen syndrome - JLNS
    • Jervell-Lange Nielsen syndrome 2 - JLNS2
    • Limb-Girdle muscular dystrophy
    • Lipodystrophy
    • Long QT Syndrome - LQT
    • Long QT syndrome 1 - LQT1
    • Long QT syndrome 13 - LQT13
    • Long QT syndrome 15 - LQT15
    • Long QT syndrome 2 - LQT2
    • Long QT syndrome 3 - LQT3
    • Long QT syndrome 5 - LQT5
    • Long QT syndrome 6 - LQT6
    • Long QT syndrome 7 - LQT7 - Andersen Syndrome
    • Long QT syndrome 8 - LQT8 - Timothy syndrome
    • Long QT syndrome 9 - LQT9
    • Muscular dystrophy
    • Non Compaction Cardiomyopathy
    • Paroxysmal Ventricular Fibrillation
    • Progressive familial heart block type IB
    • Restrictive Cardiomyopathy
    • Short QT Syndrome
    • Short QT syndrome 1 - SQT1
    • Short QT syndrome 2 - SQT2
    • Short QT syndrome 3
    • Sick Sinus Syndrome
    • Sick sinus syndrome 1
    • Sick sinus syndrome 2
    • Skin fragility woolly hair syndrome
    • Tetralogy of Fallot
    • Tetrology of Fallot
    • Ventricular septal defect 1
    • Ventricular septal defect 3
    • Wolff-Parkinson-White Syndrome
  • Connective Tissue Disorders
    • Angiopathy hereditary with nephropathy aneurysm and muscle cramps - HANAC syndrome
    • Aortic valve disease 1
    • Arterial tortuosity syndrome
    • Brain small vessel disease with hemorrhage
    • Brittle cornea syndrome
    • Bruck syndrome
    • Congenital contractural arachnodactyly
    • Cutis laxa
    • Cutis laxa autosomal dominant 2
    • Cutis laxa autosomal recessive - Cutis laxa type IA
    • Cutis laxa autosomal recessive - Cutis laxa type IB
    • Cutis laxa autosomal recessive - Cutis laxa type IC
    • Cutis laxa, autosomal dominant
    • Cutis laxa, autosomal recessive, type IIB
    • Ehlers-Danlos syndrome - EDS
    • Ehlers-Danlos syndrome dermatosparaxis type
    • Ehlers-Danlos syndrome due to tenascin X deficiency
    • Ehlers-Danlos syndrome hypermobility type
    • Ehlers-Danlos syndrome kyphoscoliotic type
    • Ehlers-Danlos syndrome musculocontractural type
    • Ehlers-Danlos syndrome type I - classic type
    • Ehlers-Danlos syndrome type II - classic type
    • Ehlers-Danlos syndrome type III
    • Ehlers-Danlos syndrome type IV
    • Ehlers-Danlos syndrome type VIA
    • Ehlers-Danlos syndrome type VIB
    • Ehlers-Danlos syndrome type VIIA/B - arthrochalasia type
    • Ehlers-Danlos syndrome type VIIC
    • Ehlers-Danlos syndrome vascular type
    • Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss
    • Ehlers-Danlos syndrome-like
    • Geleophysic dysplasia
    • Homocystinuria
    • Hypophosphatasia
    • Kniest dysplasia
    • Larsen syndrome
    • Loeys-Dietz syndrome
    • Loeys-Dietz syndrome type 1A
    • Loeys-Dietz syndrome type 1B
    • Loeys-Dietz syndrome type 2A
    • Loeys-Dietz syndrome type 2B
    • Loeys-Dietz syndrome type 3 - aneurysms-osteoarthritis syndrome
    • Loeys-Dietz syndrome type 4
    • Lysyl hydroxylase 3 deficiency
    • Marfan Syndrome
    • Marshall syndrome
    • Metaphyseal chondrodysplasia Schmid type
    • Moyamoya disease
    • Multiple epiphyseal dysplasia
    • Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects
    • Multiple self-healing squamous epithelioma
    • Osteogenesis imperfecta
    • Osteogenesis imperfecta type 1
    • Osteogenesis imperfecta type IX
    • Osteogenesis imperfecta type V
    • Osteogenesis imperfecta type VII
    • Osteogenesis imperfecta type VIII
    • Osteogenesis imperfecta type X
    • Osteogenesis imperfecta type XII
    • Osteogenesis imperfecta X linked
    • Osteoporosis with fractures
    • osteoporosis, early onset
    • Osteoporosis-pseudoglioma syndrome
    • Otospondylomegaepiphyseal dysplasia
    • Porencephaly
    • Shprintzen-Goldberg syndrome
    • Spondylocheirodysplasia
    • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
    • Spondyloepiphyseal dysplasia congenita
    • spondyloepiphyseal dysplasia with congenital joint dislocations
    • Stickler syndrome
    • Stickler syndrome and related disorders
    • Supravalvular aortic stenosis
    • Thoracic Aortic Aneurysm with Dissection - TAAD
    • van den Ende-Gupta syndrome
    • Wagner syndrome
    • Weill-Marchesani syndrome
    • Weissenbacher-Zweymuller syndrome
    • Williams-Beuren syndrome
  • Degenerative myopathies
    • Emery Dreifuss muscular dystrophy
    • Limb-Girdle muscular dystrophy
  • Developmental Disorders
    • Achondroplasia
    • Apert syndrome
    • Autism
    • Autism Spectrum Disorders
    • Blepharophimosi ptosis and epicanthus inversus syndrome - BPES
    • Carpenter syndrome 1 - CRPT1
    • Cornelia de Lange syndrome 1 - CDLS1
    • Cornelia de Lange syndrome 2 - CDLS2
    • Cornelia de Lange syndrome 5 - CDLS5
    • Craniosynostosis
    • Crouzon syndrome
    • Developmental Delay
    • DiGeorge syndrome
    • Epileptic encephalopathy early infantile 2 - Rett syndrome atypical
    • Galloway-Mowat syndrome
    • Hypochondrioplasia
    • Jackson-Weiss syndrome
    • Langer Mesomelic dysplasia
    • Microcephaly
    • Microcephaly 1 primary autosomal recessive
    • Microcephaly 2 primary autosomal recessive
    • Microcephaly 5 primary autosomal recessive
    • Microcephaly 6 primary autosomal recessive
    • Microcephaly 7 primary autosomal recessive
    • Muenke syndrome
    • Pfeiffer syndrome
    • Rett syndrome
    • Rett syndrome congenital variant
    • Saethre-Chotzen syndrome - SCS
    • Supravalvular aortic stenosis
    • Tay Sachs disease
    • Thanatophoric Dysplasia
    • UPD14 Syndrome
    • van der Woude Syndrome1-VWS1
    • Williams-Beuren syndrome
  • Dysmorphology Disorders
    • Angelman syndrome - AS
    • Cherubism
    • Dysmorphic Features
    • Fragile X syndrome
    • Nicolaides Baraitser syndrome
    • Prader Willi syndrome - PWS
    • Stuve-Wiedemann syndrome
  • Endocrine Disorders
    • Albright hereditary osteodystrophy - AHO
    • Aldosteronism glucocorticoid remediable - GRA - familial hyperaldosteronism type I
    • Angelman syndrome - AS
    • Bamforth Lazarus syndrome
    • Central hypothyroidism
    • Chondrodysplasia
    • Diabetes mellitus permanent neonatal
    • Fragile X syndrome
    • Hyperaldosteronism familial type III
    • Hyperinsulinemic hypoglycemia familial 1
    • Hyperinsulinemic hypoglycemia familial 2
    • Hyperinsulinemic hypoglycemia familial 3
    • Hyperinsulinism
    • Hyperinsulinism hyperammonemia syndrome
    • Hyperthyroidism
    • Hypothryoidism congenital nongoitrous 4
    • Hypothyroidism central and testicular enlargement
    • Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia
    • Hypothyroidism congenital nongoitrous 1
    • Hypothyroidism congenital nongoitrous 4
    • McCune Albright syndrome
    • Microphthalmia syndromic 5
    • Neonatal diabetes mellitus
    • Obesity autosomal dominant
    • Pendred syndrome with organification defect
    • Pituitary hormone deficiency combined 1
    • Pituitary hormone deficiency combined 2
    • Pituitary hormone deficiency combined 3
    • Pituitary hormone deficiency combined 4
    • Pituitary hormone deficiency combined 6
    • Prader Willi syndrome - PWS
    • Pseudohypoparathyreoïdie type II
    • Pseudohypoparathyroidism Ia
    • Pseudohypoparathyroidism Ib
    • Pseudopseudohypoparathyroidism
    • Retinal dystrophy early onset and pituitary dysfunction
    • Septooptic dysplasia
    • Shwachman-Diamond syndrome - SBDS
    • Thryoid dyshormonogenesis 5
    • Thryoid dyshormonogenesis 6
    • Thyroid adenoma hyperfunctioning somatic
    • Thyroid dyshormonogenesis 1
    • Thyroid dyshormonogenesis 2A
    • Thyroid dyshormonogenesis 3
    • Thyroid dyshormonogenesis 4
    • Thyroid Hormone Resistance
    • Thyroidal hypothyroidism
    • Thyrotropin releasing hormone deficiency
    • Thyrotropin releasing hormone resistance generalized
  • Eye Disorders
    • Arterial Calcification Generalized of Infancy - GACI1
    • Achromatopsia 2 - colorblindness
    • Achromatopsia 3
    • Albinism oculocutaneous type IA - OCA1A
    • Albinism oculocutaneous type II - OCA2
    • Albinism oculocutaneous type III - OCA3
    • Albinism oculocutaneous type IV - OCA4
    • Aniridia
    • Axenfeld Rieger syndrome type 1 - RIEG1
    • Axenfeld Rieger syndrome type 3 - RIEG3
    • Basal laminar drusen
    • Best macular dystrophy
    • Cataract with late-onset corneal dystrophy
    • Coloboma ocular
    • Coloboma of optic nerve
    • Cone-rod dystrophy 3
    • Doyne Honeycomb degeneration of retina
    • Ectopia lentis
    • Ectopia lentis et pupillae
    • Enhanced S cone syndrome
    • Foveal hyperplasia
    • Gillespie syndrome
    • Glaucoma 1 open angle E adult onset
    • Glaucoma 1A primary open angle juvenile onset 1
    • Glaucoma 3A primary open angle congenital juvenile or adult onset
    • Hyperferritinemia-cataract syndrome
    • Keratitis
    • Leber congenital amaurosis 10 - LCA 10
    • Leber congenital amaurosis 2
    • Leber congenital amaurosis 8
    • Leber hereditary optic neuropathy - LHON
    • Macular degeneration juvenile
    • Macular dystrophy patterned - Butterfly dystrophy of retinal pigment epithelium
    • Microphthalmia syndromic 3
    • Morning glory disc anomaly
    • Night Blindness Congenital Statiionery Type 1E - CSNB1E
    • Night blindness congenital stationary 1A X linked
    • Night blindness congenital stationary 1B autosomal recessive
    • Night blindness congenital stationary 1C autosomal recessive
    • Night blindness congenital stationary 2A X linked
    • Night blindness congenital stationary 2B autosomal recessive
    • Ocular albinism type I - OA1
    • Optic atrophy 1
    • Optic atrophy 3 with cataract
    • Optic nerve hypoplasia
    • Optic nerve hypoplasia and abnormalities of the central nervous system
    • Peters anomaly
    • Pseudoxanthoma elasticum - PXE
    • PXE-like disorder
    • Retinitis pigmentosa
    • Retinitis pigmentosa 12 autosomal recessive
    • Retinitis pigmentosa 19
    • Retinitis pigmentosa 2
    • Retinitis pigmentosa 20
    • Retinitis pigmentosa 25 - RP25
    • Retinitis pigmentosa 3 - Retinitis pigmentosa 15 - Retinitis pigmentosa X linked
    • Retinitis pigmentosa 37
    • Retinitis pigmentosa 38 - RP38
    • Retinitis pigmentosa 39 - RP39
    • Retinitis pigmentosa 4 autosomal dominant or recessive
    • Retinitis pigmentosa 40 - RP40
    • Retinitis pigmentosa 43 - RP43
    • Retinitis pigmentosa 7
    • Retinoschisis - Retinoschisis X linked
    • Stargardt disease 1
    • Stargardt disease 3 - Stargardt like macular dystrophy
    • Trichorhinophalangeal syndrome type I
    • Trichorhinophalangeal syndrome type III
    • TRP syndrome
    • Vitreoretinochoroidopathy
  • Fetal akinesia
    • Fetal akinesia
  • Genital anomalies
    • Denys Drash Syndrome - DDS
    • Frasier syndrome
  • Growth Disorders
    • Beckwith Wiedemann syndrome - BWS
    • Growth Abnormalities
    • Hemihypertrophy - Hemihyperplasia
    • Segmental Overgrowth Disorder
    • Silver Russell syndrome - SRS
    • Simpson Golabi Behmel syndrome type 1
  • Hematologic Disorders
    • Blackfan-Diamond anemia
    • Blackfan-Diamond anemia - Blackfan-Diamond syndrome
    • Diamond-Blackfan anemia 1 - DBA1
    • Diamond-Blackfan anemia 10 - DBA10
    • Diamond-Blackfan anemia 3 - DBA3
    • Diamond-Blackfan anemia 4 - DBA4
    • Diamond-Blackfan anemia 5 - DBA5
    • Diamond-Blackfan anemia 6 - DBA6
    • Diamond-Blackfan anemia 7 - DBA7
    • Diamond-Blackfan anemia 8 - DBA8
    • Diamond-Blackfan anemia 9 - DBA9
    • Fanconi anemia
    • Fanconi anemia A - FANCA
    • Fanconi anemia B - FANCB
    • Fanconi anemia C - FANCC
    • Fanconi anemia E - FANCE
    • Fanconi anemia F - FANCF
    • Fanconi anemia G - FANCG
    • Fanconi anemia I - FANCI
    • Fanconi anemia J - FANCJ
    • Fanconi anemia L - FANCL
    • Fanconi anemia M - FANCM
    • Fanconi anemia N - FANCN
    • Fanconi anemia O - FANCO
    • Hemophilia A
    • Methemoglobinemia - Cytochrome b5 reductase deficiency
    • Neutropenia
    • Neutropenia severe congenital 3 autosomal recessive
    • Neutropenia cyclic
    • Neutropenia severe congenital 1 autosomal dominant
    • Neutropenia severe congenital 2 autosomal dominant
    • Neutropenia severe congenital 4 autosomal recessive
    • Neutropenia severe congenital X-linked
    • Shwachman-Diamond syndrome - SBDS
  • Hereditary Cancer Syndromes
    • Adenomas multiple colorectal
    • Bannayan-Riley-Ruvalcaba Syndrome
    • Basal Cell Nevus Syndrome - BCNS - Gorlin syndrome
    • Birt-Hogg-Dubé syndrome
    • Cowden Syndrome
    • Familial Adenomatous Polyposis - FAP1
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 1
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 2
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 4
    • Familial nonpolyposis colon cancer - HNPCC - Lynch syndrome - Colorectal cancer hereditary nonpolyposis type 5
    • Hereditary Prostate Cancer - HPC9
    • Juvenile polyposis syndrome - JPS
    • Pancreatic Cancer
    • Peutz-Jeghers syndrome
    • PTEN hemartoma tumor syndrome
  • Immunologic Disorders
    • Angioedema hereditary type III
    • Angioedema hereditary types I and II
    • Hyper IgE recurrent infection syndrome autosomal recessive
    • Hyper-IgD syndrome - Hyperimmunoglobulinaemia D and periodic fever
    • Hyper-IgE recurrent infection syndrome
    • Properdin deficiency X linked
    • Vici syndrome
  • Infertility
    • Azoospermia
    • Cystic Fibrosis
    • Oligospermia
    • Oligozoospermia
  • Intellectual Disability
    • Achondroplasia
    • Angelman syndrome - AS
    • Apert syndrome
    • Autism
    • Autism Spectrum Disorders
    • Blepharophimosi ptosis and epicanthus inversus syndrome - BPES
    • Carpenter syndrome 1 - CRPT1
    • Cornelia de Lange syndrome 1 - CDLS1
    • Cornelia de Lange syndrome 2 - CDLS2
    • Cornelia de Lange syndrome 5 - CDLS5
    • Craniosynostosis
    • Crouzon syndrome
    • DiGeorge syndrome
    • Fragile X syndrome
    • Fragile X tremor/ataxia syndrome
    • Hypochondrioplasia
    • Jackson-Weiss syndrome
    • Langer Mesomelic dysplasia
    • Mental Retardation
    • Muenke syndrome
    • Nicolaides Baraitser syndrome
    • Pfeiffer syndrome
    • Prader Willi syndrome - PWS
    • Saethre-Chotzen syndrome - SCS
    • Supravalvular aortic stenosis
    • Thanatophoric Dysplasia
    • van der Woude Syndrome1-VWS1
    • Williams-Beuren syndrome
  • Lipid metabolism disorders
    • Familial Hypercholesterolemia - FH
    • Hypercholesterolemia due to ligand-defective apo B
  • Lipodystrophy
    • Lipodystrophy
  • Liver and bowel disorders
    • Cholestasis benign recurrent intrahepatic 1
    • Cholestasis benign recurrent intrahepatic 2
    • Cholestasis intrahepatic of pregnancy
    • Cholestasis intrahepatic of pregnancy 3
    • Cholestasis progressive familial intrahepatic 1
    • Cholestasis progressive familial intrahepatic 2
    • Cholestasis progressive familial intrahepatic 3
    • Gallbladder disease 1 - LPAC syndrome
    • Hypercholanemia familial - FHCA
  • Lymphatic System Disorders
    • Hennekam lymphangiectasia lymphedema syndrome - Hennekam syndrome
    • Hypotrichosis-lymphedema-telangiectasia syndrome
    • Lymphedema, hereditary
    • Lymphedema-distichiasis syndrome
    • Venous malformations
  • Lysosomal storage disorders
    • Danon disease
    • Fabry Disease
    • Gaucher disease
    • Niemann Pick disease type A
    • Niemann Pick disease type B
    • Niemann Pick disease type C1
    • Niemann Pick disease type C2
  • Metabolic Disorders
    • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
    • 3-hydroxyisobutyrate dehydrogenase deficiency
    • 3-hydroxyisobutyryl-CoA hydrolase deficiency
    • 3-methylcrotonyl-CoA carboxylase 1 deficiency - MCC1 deficiency
    • 3-methylcrotonyl-CoA carboxylase 2 deficiency - MCC2 deficiency
    • 3-methylglutaconyl-CoA hydratase deficiency - 3-methylglutacon aciduria type 1
    • Acute recurrent rhabdomyolysis - Myoglobinuria acute recurrent
    • Acyl-CoA oxidase deficiency
    • Adenine phosphoribosyltransferase deficiency
    • Adenosine deaminase deficiency
    • Adrenoleukodystrophy X-linked
    • Alpha-methylacyl-CoA racemase deficiency
    • Argininosuccinate lyase deficiency
    • Aromatic-L-amino-acid decarboxylase deficiency
    • Beta-ureidopropionase deficiency
    • Brown-Vialetto-Van Laere syndrome 1
    • Brown-Vialetto-Van Laere syndrome 2 - Riboflavine transporter defect
    • Carnitine palmitoyltransferase 2 deficiency
    • Carnitine palmitoyltransferase I deficiency
    • Carnitine-acylcarnitine translocase deficiency
    • CHILD syndrome
    • Chitotriosidase deficiency
    • Chondrodysplasia punctata 2 - CDPX2 - Conradi-Hunermann-Happle syndrome
    • CK syndrome
    • D-bifunctional protein deficiency - DBPD
    • Desmosterolosis
    • Dihydropyrimidinase Deficiency
    • Dihydropyrimidine dehydrogenase deficiency
    • Dopa responsive dystonia
    • Ethylmalonic encephalopathy
    • Galactokinase deficiency
    • Galactosemia
    • Glutaric acidemia type IIA
    • Glutaric acidemia type IIB
    • Glutaric acidemia type IIC
    • Glutaric aciduria type 1 - Glutaric acidemia type 1 - Glutaryl-CoA dehydrogenase deficiency
    • Glycogen storage disease type 0 - GSD 0
    • Glycogen storage disease X - Phosphoglycerate mutase deficiency muscle specific
    • Hereditary fructose intolerance
    • Holocarboxylase synthetase deficiency
    • HPRT-related gout - Hypoxanthine-guanine phosphoribosyl transferase deficiency
    • Hyperlysinemia
    • Isovaleric acidemia - Isovaleryl-CoA dehydrogenase deficiency
    • Lathosterolosis
    • Lesch-Nyhan syndrome
    • Malignant hyperphenylalaninemia - GTP cyclohydrolase I deficiency
    • Medium-chain acyl-Coenzyme A dehydrogenase deficiency
    • Methylmalonyl-CoA epimerase deficiency - Methylmalonic aciduria III
    • Mevalonate kinase deficiency
    • Mevalonic aciduria
    • Mitochondrial DNA depletion syndrome 9 - SUCLG1 deficiency
    • Mitochondrial trifunctional protein deficiency
    • Monocarboxylate transporter member 1 (MCT1) deficiency
    • Multiple acyl-CoA dehydrogenase deficiency
    • Niemann Pick disease type A
    • Niemann Pick disease type B
    • Niemann Pick disease type C1
    • Niemann Pick disease type C2
    • Peroxisome biogenesis disorder 10A
    • Peroxisome biogenesis disorder 11A
    • Peroxisome biogenesis disorder 12A
    • Peroxisome biogenesis disorder 13A
    • Peroxisome biogenesis disorder 14B
    • Peroxisome biogenesis disorder 1A
    • Peroxisome biogenesis disorder 3A
    • Peroxisome biogenesis disorder 4A
    • Peroxisome biogenesis disorder 5A
    • Peroxisome biogenesis disorder 6A
    • Peroxisome biogenesis disorder 7A
    • Peroxisome biogenesis disorder 8A
    • Peroxisome biogenesis disorder 9B - Refsum disease
    • Phosphoribosyl pyrophosphate synthetase 1 superactivity
    • Phytanoyl-CoA 2-hydroxylase deficiency - Refsum disease
    • Primary carnitine deficiency
    • Primary hyperoxaluria type 1
    • Primary hyperoxaluria type II
    • Primary hyperoxaluria type III
    • Purine nucleoside phosphorylase deficiency
    • Rhizomelic chondrodysplasia punctata type 1 - RCDP1
    • Rhizomelic chondrodysplasia punctata type 2 - RCDP2
    • Rhizomelic chondrodysplasia punctata type 3 - RCDP3
    • Riboflavin deficiency
    • Short Chain Acyl-CoA Dehydrogenase Deficiency
    • Sjogren-Larsson syndrome
    • Smith-Lemli-Opitz syndrome - SLOS
    • SUCLA2 deficiency - Myopathic mitochondrial DNA depletion syndrome
    • Thymidine phosphorylase deficiency - Mitochondrial neurogastrointestinal encephalomyopathy
    • Treatable Metabolic Neurodegenerative Disorders
    • Tyrosine hydroxylase deficiency - Segawa syndrome
    • Very-long-chain acyl-Coenzyme A dehydrogenase deficiency - VLCAD deficiency
    • Zellweger spectrum disorders
    • Zellweger syndrome
  • Muscle Disorders
    • Cardiomyopathy
    • Centronuclear myopathies recessive - CNM
    • Core myopathy recessive - CM
    • Dilated cardiomyopathy
    • Emery Dreifuss muscular dystrophy
    • Hereditary myopathy with early respiratory failure - HMERF
    • Hypertrophic cardiomyopathy
    • Limb-Girdle muscular dystrophy
    • Muscular dystrophy
    • Non Compaction Cardiomyopathy
    • Restrictive Cardiomyopathy
  • Myopathies
    • Emery Dreifuss muscular dystrophy
    • Limb-Girdle muscular dystrophy
  • Nephropathies
    • Denys Drash Syndrome - DDS
    • Frasier syndrome
    • Wilms tumor
  • Neurologic Disorders
    • Aicardi-Goutières syndrome
    • Aicardi-Goutières syndrome 1
    • Aicardi-Goutières syndrome 2
    • Aicardi-Goutières syndrome 3
    • Aicardi-Goutières syndrome 4
    • Aicardi-Goutières syndrome 5
    • Aicardi-Goutières syndrome 6
    • Alzheimer Disease
    • Alzheimer disease 1, familial
    • Alzheimer Disease 4
    • Alzheimer Disease Familial
    • Alzheimer disease, pathogenesis, association with
    • Alzheimer disease, type 3
    • Amyloidosis hereditary transthyretin-related
    • Amyotrophic lateral sclerosis
    • Amyotrophic lateral sclerosis 1
    • Amyotrophic lateral sclerosis 10 - ALS10
    • Amyotrophic lateral sclerosis 10, with or without FTD
    • Amyotrophic lateral sclerosis 14 - ALS14
    • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
    • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
    • Amyotrophic lateral sclerosis 4 juvenile - ALS4
    • Amyotrophic lateral sclerosis 6 - ALS6
    • Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
    • Amyotrophic lateral sclerosis type 9 - ALS9
    • Amyotrophy hereditary neuralgic
    • Angelman syndrome - AS
    • Ataxia-ocular apraxia 2-Spinocerebellar ataxia autosomal recessive 1- SCAR1
    • Brown-Vialetto-Van Laere syndrome 1
    • Brown-Vialetto-Van Laere syndrome 2 - Riboflavine transporter defect
    • Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants
    • Charcot-Marie-Tooth disease type 1D - CMT1D
    • Charcot-Marie-Tooth disease type 4H - CMT4H
    • Charcot-Marie-Tooth disease - CMT
    • Charcot-Marie-Tooth disease axonal type 2M - CMT2M
    • Charcot-Marie-Tooth disease axonal type 2F - CMT2F
    • Charcot-Marie-Tooth disease axonal type 2K - CMT2K
    • Charcot-Marie-Tooth disease axonal type 2L - CMT2L
    • Charcot-Marie-Tooth disease axonal type 2P - CMT2P
    • Charcot-Marie-Tooth disease type 1A - CMT1A
    • Charcot-Marie-Tooth disease type 1B - CMT1B
    • Charcot-Marie-Tooth disease type 1C - CMT1C
    • Charcot-Marie-Tooth disease type 1F - CMT1F
    • Charcot-Marie-Tooth disease type 2 - CMT2
    • Charcot-Marie-Tooth disease type 2A2 - CMT2A2
    • Charcot-Marie-Tooth disease type 2B - CMT2B
    • Charcot-Marie-Tooth disease type 2B1 - CMT2B1
    • Charcot-Marie-Tooth disease type 2D - CMT2D
    • Charcot-Marie-Tooth disease type 2E - CMT2E
    • Charcot-Marie-Tooth disease type 2I - CMT2I
    • Charcot-Marie-Tooth disease type 2IJ - CMT2J
    • Charcot-Marie-Tooth disease Type 4A - CMT4A
    • Charcot-Marie-Tooth disease type 4B1 - CMT4B1
    • Charcot-Marie-Tooth disease type 4C - CMT4C
    • Charcot-Marie-Tooth disease type 4D - CMT4D
    • Charcot-Marie-Tooth disease type 4J - CMT4J
    • Charcot-Marie-Tooth disease X-linked dominant type 1 - CMT1C
    • Choreoathetosis hypothyroidism and neonatal respiratory distress
    • CNS Abnormalities
    • Congenital cataracts facial dysmorphism and neuropathy - CCFDN
    • Creutzfeldt Jakob disease
    • Cystic leukoencephalopathy without megalencephaly
    • Dementia, familial British
    • Dementia, familial Danish
    • Dementia, familial, nonspecific
    • Dementia, frontotemporal, with or without parkinsonism
    • Dementia, Lewy body
    • Distal hereditary motor neuropathy type 5 - DHMN
    • Dysautonomia familial - Riley Day syndrome
    • Dystonia 1 torsion - DYT1
    • Dystonia 11 myoclonic - DYT11
    • Dystonia 6 torsion - DYT6
    • Dystonia-parkinsonism, rapid-onset - DYT12
    • Dystonia-Parkinsonism, X-linked - DYT3
    • Epileptic encephalopathy early infantile 2 - Rett syndrome atypical
    • Familial Amyloid Polyneuropathy
    • Fragile X syndrome
    • Fragile X tremor/ataxia syndrome
    • Frontotemporal Dementia - FTD
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 - FTDALS1
    • Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
    • Frontotemporal lobar degeneration with ubiquitin-positive inclusions
    • Goiter familial due to TTF1 defect
    • Hereditary benign chorea
    • Hereditary motor and sensory neuropathy type IIc - HMSN2C
    • Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
    • Kufor-Rakeb syndrome
    • Leukoencephalopathy, diffuse hereditary, with spheroids
    • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
    • Microcephaly
    • Microcephaly 1 primary autosomal recessive
    • Microcephaly 5 primary autosomal recessive
    • Microcephaly 6 primary autosomal recessive
    • Microcephaly 7 primary autosomal recessive
    • Myotubular myopathy X-linked
    • Neuropathy hereditary sensory and autonomic type IA - HSAN1A
    • Neuropathy distal hereditary motor type IIA
    • Neuropathy distal hereditary motor type IIB
    • Neuropathy hereditary sensory and autonomic type II - HSAN IIA
    • Neuropathy hereditary sensory and autonomic type V - HSAN V
    • Neuropathy recurrent with pressure palsies - HNPP
    • Parkinson Disease
    • Parkinson Disease 1 Autosomal Dominant
    • Parkinson disease 14, autosomal recessive
    • Parkinson disease 15, autosomal recessive
    • Parkinson disease 16
    • Parkinson disease 17, autosomal dominant
    • Parkinson disease 18, autosomal dominant
    • Parkinson disease 19, juvenile-onset, autosomal recessive
    • Parkinson Disease 2 Autosomal Recessive
    • Parkinson disease 20, early-onset, autosomal recessive
    • Parkinson disease 21, autosomal dominant
    • Parkinson Disease 4 Autosomal Dominant
    • Parkinson Disease 6 Autosomal Recessive
    • Parkinson Disease 7 Autosomal Recessive
    • Parkinson Disease 8 Autosomal Dominant
    • Parkinson Disease 9 Autosomal Recessive (PARK9)
    • Parkinsonism with spasticity, X-linked
    • Parkinsonism-dystonia, infantile, autosomal recessive
    • Peroxisome biogenesis disorder 10A
    • Peroxisome biogenesis disorder 11A
    • Peroxisome biogenesis disorder 12A
    • Peroxisome biogenesis disorder 13A
    • Peroxisome biogenesis disorder 14B
    • Peroxisome biogenesis disorder 1A
    • Peroxisome biogenesis disorder 3A
    • Peroxisome biogenesis disorder 4A
    • Peroxisome biogenesis disorder 5A
    • Peroxisome biogenesis disorder 6A
    • Peroxisome biogenesis disorder 7A
    • Peroxisome biogenesis disorder 8A
    • Pick disease
    • Pontocerebellar hypoplasia - PCH
    • Pontocerebellar hypoplasia type 1A - PCH1A
    • Pontocerebellar hypoplasia type 1B - PCH1B
    • Pontocerebellar hypoplasia type 2A - PCH2A
    • Pontocerebellar hypoplasia type 2B - PCH2B
    • Pontocerebellar hypoplasia type 2C - PCH2C
    • Pontocerebellar hypoplasia type 2D - PCH2D
    • Pontocerebellar hypoplasia type 4 - PCH4
    • Pontocerebellar hypoplasia type 6
    • Prader Willi syndrome - PWS
    • Rett syndrome
    • Rett syndrome congenital variant
    • Riboflavin deficiency
    • Scapuloperoneal spinal muscular atrophy
    • Spinal muscular atrophy
    • Tay Sachs disease
    • Treatable Metabolic Neurodegenerative Disorders
    • Zellweger spectrum disorders
    • Zellweger syndrome
  • Ocular Disorders
    • Arterial Calcification Generalized of Infancy - GACI1
    • Achromatopsia 2 - colorblindness
    • Achromatopsia 3
    • Albinism oculocutaneous type IA - OCA1A
    • Albinism oculocutaneous type II - OCA2
    • Albinism oculocutaneous type III - OCA3
    • Albinism oculocutaneous type IV - OCA4
    • Aniridia
    • Axenfeld Rieger syndrome type 1 - RIEG1
    • Axenfeld Rieger syndrome type 3 - RIEG3
    • Basal laminar drusen
    • Best macular dystrophy
    • Cataract with late-onset corneal dystrophy
    • Coloboma ocular
    • Coloboma of optic nerve
    • Cone-rod dystrophy 3
    • Doyne Honeycomb degeneration of retina
    • Ectopia lentis
    • Ectopia lentis et pupillae
    • Enhanced S cone syndrome
    • Foveal hyperplasia
    • Gillespie syndrome
    • Glaucoma 1 open angle E adult onset
    • Glaucoma 1A primary open angle juvenile onset 1
    • Glaucoma 3A primary open angle congenital juvenile or adult onset
    • Keratitis
    • Leber congenital amaurosis 10 - LCA 10
    • Leber congenital amaurosis 2
    • Leber congenital amaurosis 8
    • Leber hereditary optic neuropathy - LHON
    • Macular degeneration juvenile
    • Macular dystrophy patterned - Butterfly dystrophy of retinal pigment epithelium
    • Microphthalmia syndromic 3
    • Morning glory disc anomaly
    • Night Blindness Congenital Statiionery Type 1E - CSNB1E
    • Night blindness congenital stationary 1A X linked
    • Night blindness congenital stationary 1B autosomal recessive
    • Night blindness congenital stationary 1C autosomal recessive
    • Night blindness congenital stationary 2A X linked
    • Night blindness congenital stationary 2B autosomal recessive
    • Ocular albinism type I - OA1
    • Optic atrophy 1
    • Optic atrophy 3 with cataract
    • Optic nerve hypoplasia
    • Optic nerve hypoplasia and abnormalities of the central nervous system
    • Peters anomaly
    • Pseudoxanthoma elasticum - PXE
    • PXE-like disorder
    • Retinitis pigmentosa
    • Retinitis pigmentosa 12 autosomal recessive
    • Retinitis pigmentosa 19
    • Retinitis pigmentosa 2
    • Retinitis pigmentosa 20
    • Retinitis pigmentosa 25 - RP25
    • Retinitis pigmentosa 3 - Retinitis pigmentosa 15 - Retinitis pigmentosa X linked
    • Retinitis pigmentosa 37
    • Retinitis pigmentosa 38 - RP38
    • Retinitis pigmentosa 39 - RP39
    • Retinitis pigmentosa 4 autosomal dominant or recessive
    • Retinitis pigmentosa 40 - RP40
    • Retinitis pigmentosa 43 - RP43
    • Retinitis pigmentosa 7
    • Retinoschisis - Retinoschisis X linked
    • Stargardt disease 1
    • Stargardt disease 3 - Stargardt like macular dystrophy
    • Trichorhinophalangeal syndrome type I
    • Trichorhinophalangeal syndrome type III
    • TRP syndrome
    • Vitreoretinochoroidopathy
  • Pulmonary disease
    • Cystic Fibrosis
    • Pulmonary hypertension - PPH1
    • Pulmonary hypertension - PPH2
    • Surfactant protein B deficiency - pulmonary surfactant metabolism dysfunction
  • Reproductive Genetics
    • Azoospermia
    • Cystic Fibrosis
    • Oligospermia
    • Oligozoospermia
    • Premature ovarian failure 1 - POF
  • Skeletal Disorders
    • Desbuquois dysplasia 2
    • Greenberg skeletal dysplasia - HEM skeletal dysplasia
  • Skin Disorders
    • Basal Cell Nevus Syndrome - BCNS - Gorlin syndrome
    • Birt-Hogg-Dubé syndrome
    • Goltz-Gorlin Syndrome - Focal Dermal Hypoplasia - FDH
  • Urological Disorders
    • Azoospermia
    • Cystic Fibrosis
    • Oligospermia
    • Oligozoospermia
  • Vascular Malformations
    • Capillary Infantile Hemangioma
    • Capillary malformation arteriovenous malformation - CMAVM
    • Cerebral cavernous malformations 3
    • Cerebral cavernous malformations-1
    • Cerebral cavernous malformations-2
    • Cowden Syndrome
    • Glomuvenous malformations
    • Hypotrichosis-lymphedema-telangiectasia syndrome
    • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
    • Pulmonary hypertension, primary
    • Pulmonary hypertension, primary, 3
    • Pulmonary hypertension, primary, 4
    • Telangiectasia, hereditary hemorrhagic, type 1
    • Telangiectasia, hereditary hemorrhagic, type 2
    • Telangiectasia, hereditary hemorrhagic, type 5
    • Venous malformations
  • White Matter Disorders
    • Aicardi-Goutières syndrome
    • Aicardi-Goutières syndrome 1
    • Aicardi-Goutières syndrome 2
    • Aicardi-Goutières syndrome 3
    • Aicardi-Goutières syndrome 4
    • Aicardi-Goutières syndrome 5
    • Aicardi-Goutières syndrome 6
    • Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
    • Cystic leukoencephalopathy without megalencephaly
    • Hereditary diffuse leukoencephalopathy with spheroids
    • Hypomyelinating Leukodystrophy type 7 - 4H syndrome
    • Hypomyelinating Leukodystrophy type 8
    • Hypomyelinating Leukodystrophy
    • Hypomyelinating Leukodystrophy type 11 - 4H syndrome
    • Hypomyelinating Leukodystrophy type 2
    • Hypomyelinating Leukodystrophy type 3
    • Hypomyelinating Leukodystrophy type 4
    • Hypomyelinating Leukodystrophy type 5
    • Hypomyelinating Leukodystrophy type 6
    • Hypomyelinating Leukodystrophy with congenital cataract
    • Leukodystrophy
    • Leukodystrophy Adult Onset
    • Leukodystrophy Autosomal Dominant
    • Leukodystrophy Demyelinating
    • Pelizaeus-Merzbacher disease
    • Pelizaeus-Merzbacher like disease
    • Pelizaeus-Merzbacher like disease autosomal recessive
    • Spastic Paraplegia
    • Spastic Paraplegia type 2 X linked
    • Spastic Paraplegia type 35