TESTS BY DISEASE

Tests Found: 4466

Disease Name Number of Tests Offered
18 Hydroxylase Deficiency 1
2-Methyl-3-Hydroxybutyric Aciduria 2
2-Methylbutyryl-CoA Dehydrogenase Deficiency 1
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency 4
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of 6
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 4
3-M Syndrome 2
3-Methylcrotonyl CoA Carboxylase 2 Deficiency 5
3-Methylglutaconic Aciduria 3
3-Methylglutaconic Aciduria Type 2 13
3-Methylglutaconic Aciduria Type 3 7
3-Methylglutaconic Aciduria Type V 1
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome 2
3-methylglutaconic aciduria, type IX 1
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 4
3-methylglutaconic aciduria, type VIII 1
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency 6
3MC syndrome 1 3
3MC syndrome 2 2
46, XX sex reversal 4 2
46,XX Sex Reversal, Type 1 8
46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 2
46,XY Sex Reversal 8 5
46,XY Sex Reversal, Type 1 4
46,XY Sex Reversal, Type 2 2
46,XY Sex Reversal, Type 3 5
46,XY Sex Reversal, Type 5 4
46,XY Sex Reversal, Type 6 7
46,XY Sex Reversal, Type 7 6
46XY Sex Reversal 9 4
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 2
Aarskog Syndrome 5
ABCD Syndrome 3
Abdominal obesity-metabolic syndrome 3 1
Ablepharon-macrostomia syndrome 1
Abruzzo-Erickson syndrome 3
Acatalasemia 1
Aceruloplasminemia 4
Acheiropody 1
Achondrogenesis Type 2 8
Achondrogenesis, Type Ia 3
Achondrogenesis, Type Ib 6
Achondroplasia 10
Achromatopsia 2 4
Achromatopsia 3 4
Achromatopsia 4 5
Achromatopsia 7 4
Acne Inversa, Familial, 2 1
Acne Inversa, Familial, 3 1
Acquired Partial Lipodystrophy 2
Acrocallosal Syndrome, Schinzel Type 10
Acrocapitofemoral Dysplasia 1
Acrodermatitis Enteropathica 1
Acrodysostosis 2
Acrodysostosis 2, with or without Hormone Resistance 4
Acrofacial Dysostosis 1, Nager Type 7
Acrofacial dysostosis, Cincinnati type 2
Acromelic frontonasal dysostosis 1
Acromesomelic Dysplasia Hunter Thompson Type 3
Acromesomelic Dysplasia Maroteaux Type 3
Acromicric Dysplasia 4
ACTH-independent macronodular adrenal hyperplasia 1
Acute Alcohol Sensitivity 1
Acute Intermittent Porphyria 3
Acute Lymphoblastic Leukemia 3
Adams-Oliver Syndrome 1 5
Adams-Oliver Syndrome 2 6
Adams-Oliver Syndrome 3 3
Adams-Oliver Syndrome 4 3
Adams-Oliver Syndrome 5 4
Adams-Oliver Syndrome 6 3
Adenine Phosphoribosyltransferase Deficiency 1
Adenomatous Polyposis Coli 6
Adenosine Triphosphate, Elevated, Of Erythrocytes 1
Adenylosuccinate Lyase Deficiency 6
Adolescent Nephronophthisis 6
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency 2
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency 6
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 7
Adrenocortical Carcinoma, Hereditary 3
Adrenoleukodystrophy 10
Adult Hypophosphatasia 6
Adult Onset Ataxia With Oculomotor Apraxia 6
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 1
ADULT Syndrome 5
Afibrinogenemia 1
Afibrinogenemia, congenital 8
Agammaglobulinemia 1 3
Agammaglobulinemia 2, Autosomal Recessive 2
Agammaglobulinemia 3, Autosomal Recessive 3
Agammaglobulinemia 4, Autosomal Recessive 3
Agammaglobulinemia 5, Autosomal Dominant 2
Agammaglobulinemia 6, Autosomal Recessive 3
Agammaglobulinemia 7, Autosomal Recessive 6
Agammaglobulinemia 8, autosomal dominant 2
AGAT Deficiency 4
Age-Related Macular Degeneration 1 3
Age-Related Macular Degeneration 4 4
Age-Related Macular Degeneration 5 4
Age-Related Macular Degeneration 6 3
Age-Related Macular Degeneration 7 1
Age-Related Macular Degeneration 9 2
Agnathia-Otocephaly Complex 3
Aicardi-Goutieres Syndrome 1 6
Aicardi-Goutieres Syndrome 2 4
Aicardi-Goutieres Syndrome 3 4
Aicardi-Goutieres Syndrome 4 4
Aicardi-Goutieres Syndrome 5 4
Aicardi-Goutieres Syndrome 6 3
Aicardi-Goutieres Syndrome 7 5
Al-Gazali-Bakalinova syndrome 5
Al-Raqad Syndrome 1
Alacrima, Achalasia, and Mental Retardation Syndrome 1
Alagille Syndrome 1 9
Alagille Syndrome 2 8
Aland Island Eye Disease 5
Alazami Syndrome 2
Alazami-Yuan Syndrome 2
Albinism, Ocular, With Sensorineural Deafness 8
Albinism, Oculocutaneous, Type VII 4
Alexander Disease 5
Alkaptonuria 1
Alkuraya-Kucinskas syndrome 1
Allan-Herndon-Dudley Syndrome 7
Alpha Thalassemia 5
Alpha-1-Antitrypsin Deficiency 2
Alpha-B Crystallinopathy 5
Alpha-Methylacetoacetic Aciduria 4
Alpha-Methylacyl-CoA Racemase Deficiency 1
Alpha-Thalassemia Myelodysplasia Syndrome 5
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity 1
Alport Syndrome, Autosomal Dominant 6
Alport Syndrome, Autosomal Recessive 8
Alport Syndrome, X-Linked Recessive 6
Alstrom Syndrome 8
Alternating Hemiplegia Of Childhood 3
Alternating Hemiplegia of Childhood 2 6
Alzheimer Disease 9, Susceptibility to 1
Alzheimer Disease, Type 3 3
Alzheimer Disease, Type 4 5
Alzheimer's Disease 3
Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome 1
Amelogenesis Imperfecta, Hypomaturation Type, IIa1 2
Amelogenesis Imperfecta, Hypomaturation Type, IIa2 2
Amelogenesis Imperfecta, Hypomaturation Type, IIa3 2
Amelogenesis imperfecta, hypomaturation type, IIA4 2
Amelogenesis Imperfecta, Hypomaturation Type, IIA6 1
Amelogenesis Imperfecta, Type IA 2
Amelogenesis Imperfecta, Type Ib 2
Amelogenesis Imperfecta, Type Ic 2
Amelogenesis Imperfecta, Type Ie 4
Amelogenesis Imperfecta, Type IG (Enamel-Renal Syndrome) 3
Amelogenesis Imperfecta, Type IH 1
Amelogenesis Imperfecta, Type IIA5 1
Amelogenesis Imperfecta, Type III 2
Amelogenesis Imperfecta, Type IV 3
Aminoacylase 1 Deficiency 4
Amish Infantile Epilepsy Syndrome 4
Aml - Acute Myeloid Leukemia 14
Amyloidogenic Transthyretin Amyloidosis 7
Amyloidosis, Finnish Type 3
Amyotrophic Lateral Sclerosis 16, Juvenile 2
Amyotrophic lateral sclerosis 19 1
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 1
Amyotrophic lateral sclerosis 5, juvenile 1
Amyotrophic Lateral Sclerosis Type 1 4
Amyotrophic Lateral Sclerosis Type 10 5
Amyotrophic Lateral Sclerosis Type 11 6
Amyotrophic Lateral Sclerosis Type 12 5
Amyotrophic Lateral Sclerosis Type 14 3
Amyotrophic Lateral Sclerosis Type 15 4
Amyotrophic Lateral Sclerosis Type 17 3
Amyotrophic Lateral Sclerosis Type 18 3
Amyotrophic Lateral Sclerosis Type 2 3
Amyotrophic Lateral Sclerosis Type 20 4
Amyotrophic Lateral Sclerosis Type 4 3
Amyotrophic Lateral Sclerosis Type 6 4
Amyotrophic Lateral Sclerosis Type 8 3
Amyotrophic Lateral Sclerosis Type 9 3
Amyotrophic lateral sclerosis, susceptibility to, 24 3
Amyotrophic Lateral Sclerosis, Susceptibility to, 25 2
Amytrophic Lateral Sclerosis 23 3
Anauxetic Dysplasia 4
Anauxetic dysplasia 2 1
Andermann Syndrome 2
Andersen Tawil Syndrome 7
Androgen Resistance Syndrome 7
Anemia Sideroblastic And Spinocerebellar Ataxia 1
Anemia, neonatal hemolytic, fatal or near-fatal 1
Anemia, sideroblastic, 3, pyridoxine-refractory 1
Anemia, sideroblastic, 4 2
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 1
Angelman Syndrome 7
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 3
Aniridia 2 1
Aniridia, Cerebellar Ataxia, And Mental Retardation 2
Anterior segment dysgenesis 6, multiple subtypes 2
Anterior segment dysgenesis 8 1
Anterior Segment Mesenchymal Dysgenesis 7
Anti-Plasmin Deficiency, Congenital 3
Antithrombin III Deficiency 1
Antley-Bixler Syndrome 7
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis 9
Aortic Aneurysm, Familial Thoracic 10 3
Aortic Aneurysm, Familial Thoracic 11, susceptibility to 6
Aortic Aneurysm, Familial Thoracic 4 5
Aortic Aneurysm, Familial Thoracic 6 7
Aortic Aneurysm, Familial Thoracic 7 5
Aortic Aneurysm, Familial Thoracic 8 4
Aortic Aneurysm, Familial Thoracic 9 3
Aortic Valve Disorder 4
Apert Syndrome 9
Aphakia, Congenital Primary 8
Aplasia Of Lacrimal And Salivary Glands 2
Aplastic Anemia 4
Apolipoprotein C2 Deficiency 1
Apparent Mineralocorticoid Excess 2
Arginase Deficiency 4
Argininosuccinate Lyase Deficiency 3
Aromatase Deficiency 2
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 7
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 6
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 10
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 7
Arrhythmogenic right ventricular dysplasia, familial, 13 1
Arterial Calcification Of Infancy 6
Arterial Calcification, Generalized, of Infancy, 2 4
Arterial Tortuosity Syndrome 4
Arteriovenous Malformations Of The Brain 2
Arthrogryposis Multiplex Congenita Distal Type 1 5
Arthrogryposis Multiplex Congenita, Distal, X-Linked 1
Arthrogryposis multiplex congenita, myogenic type 1
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 3
Arthrogryposis, Distal, Type 1B 3
Arthrogryposis, Distal, Type 2B 12
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 2
Arthrogryposis, Distal, Type 3 3
Arthrogryposis, Distal, Type 5 3
Arthrogryposis, distal, type 5D 6
Arthrogryposis, Distal, Type 7 2
Arthrogryposis, Distal, Type 8 5
Arthrogryposis, Distal, with Impaired Proprioception and Touch 1
Arthrogryposis, Mental Retardation, and Seizures 1
Arthrogryposis, Perthes disease, and upward gaze palsy 3
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 3
Arts Syndrome 5
Asparagine synthetase deficiency 1
Aspartylglycosaminuria 3
Asperger Syndrome, X-Linked, Susceptibility To, 1 2
Asperger Syndrome, X-Linked, Susceptibility To, 2 4
Asplenia, isolated congenital 1
Ataxia With Vitamin E Deficiency 1
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 1
Ataxia-Oculomotor Apraxia 3 1
Ataxia-Pancytopenia Syndrome 6
Ataxia-Telangiectasia Syndrome 15
Ataxia-Telangiectasia-Like Disorder 8
Atelosteogenesis, type I 4
Atelosteogenesis, Type II 6
Atelosteogenesis, type III 4
Athabaskan Brainstem Dysgenesis 2
ATR-X Syndrome 14
Atrial fibrillation 15 1
Atrial Fibrillation, Familial, 10 5
Atrial Fibrillation, Familial, 11 5
Atrial Fibrillation, Familial, 12 8
Atrial Fibrillation, Familial, 13 4
Atrial Fibrillation, Familial, 14 6
Atrial Fibrillation, Familial, 18 2
Atrial Fibrillation, Familial, 3 7
Atrial Fibrillation, Familial, 4 6
Atrial Fibrillation, Familial, 6 4
Atrial Fibrillation, Familial, 7 5
Atrial Fibrillation, Familial, 9 5
Atrial Myxoma, Familial 4
Atrial Septal Defect 2 4
Atrial Septal Defect 3 6
Atrial Septal Defect 5 5
Atrial septal defect 9 1
Atrial Septal Defect With Atrioventricular Conduction Defects 6
Atrial standstill, digenic (GJA5/SCN5A) 1
Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 2 1
Atrioventricular Septal Defect 4 4
Atrioventricular septal defect 5 1
Atypical Hemolytic-Uremic Syndrome 1 2
Atypical Hemolytic-Uremic Syndrome 2 1
Atypical Hemolytic-Uremic Syndrome 3 1
Atypical Hemolytic-Uremic Syndrome 4 2
Atypical Hemolytic-Uremic Syndrome 5 2
Atypical Hemolytic-Uremic Syndrome 6 2
Atypical Mycobacteriosis, Familial 1
Atypical Mycobacteriosis, Familial, X-Linked 2 3
Au-Kline syndrome 2
Auditory neuropathy and optic atrophy 1
Auditory neuropathy, autosomal dominant, 1 1
Aural atresia, congenital 1
Auriculocondylar syndrome 1 2
Auriculocondylar syndrome 2 2
Auriculocondylar syndrome 3 1
Autism 10 1
Autism 15 1
Autism 17 1
Autism Susceptibility 1 3
Autism, Susceptibility to, 18 4
Autism, Susceptibility To, X-Linked 1 2
Autism, Susceptibility To, X-Linked 2 6
Autism, Susceptibility To, X-Linked 3 3
Autism, Susceptibility to, X-linked 4 3
Autism, Susceptibility To, X-Linked 5 1
Autism, Susceptibility to, X-linked 6 1
Autoimmune Disease, Multisystem, Infantile-Onset, 1 5
Autoimmune disease, multisystem, infantile-onset, 2 2
Autoimmune Disease, Syndromic Multisystem 1
Autoimmune interstitial lung, joint, and kidney disease 1
Autoimmune Lymphoproliferative Syndrome 3
Autoimmune Lymphoproliferative Syndrome, Type 2 2
Autoimmune Lymphoproliferative Syndrome, Type III 4
Autoimmune Lymphoproliferative Syndrome, Type V 4
Autoimmune Thyroid Disease 3 1
Autoinflammation with Infantile Enterocolitis 3
Autoinflammation, antibody deficiency, and immune dysregulation syndrome 3
Autoinflammation, panniculitis, and dermatosis syndrome 1
Autoinflammatory Syndrome, Familial, Behcet-like 3
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E 5
Autosomal Recessive Centronuclear Myopathy 4
Autosomal Recessive Cutis Laxa Type 3A 6
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 3
Autosomal Recessive Hypophosphatemic Bone Disease 5
Avascular Necrosis Of Femoral Head, Primary 8
Avascular necrosis of femoral head, primary, 2 3
Avellino Corneal Dystrophy 2
Axenfeld-Rieger Syndrome Type 3 8
Axenfeld-Rieger syndrome, type 1 11
Ayme-Gripp Syndrome 6
B-cell expansion with NFKB and T-cell anergy 3
Bacteremia, Susceptibility To, 1 1
Bainbridge-Ropers Syndrome 4
Baker-Gordon syndrome 1
Baller-Gerold Syndrome 6
Bamforth Syndrome 2
Band Heterotopia 2
Bannayan-Riley-Ruvalcaba Syndrome 10
Baraitser-Winter Syndrome 1 7
Baraitser-Winter Syndrome 2 4
Barakat Syndrome 5
Barber-Say Syndrome 3
Bardet-Biedl Syndrome 1 11
Bardet-Biedl Syndrome 10 11
Bardet-Biedl Syndrome 11 11
Bardet-Biedl Syndrome 12 10
Bardet-Biedl Syndrome 13 9
Bardet-Biedl Syndrome 14 8
Bardet-Biedl Syndrome 15 6
Bardet-Biedl Syndrome 16 8
Bardet-Biedl Syndrome 17 6
Bardet-Biedl Syndrome 18 6
Bardet-Biedl Syndrome 19 6
Bardet-Biedl Syndrome 2 9
Bardet-Biedl Syndrome 20 3
Bardet-Biedl Syndrome 21 5
Bardet-Biedl Syndrome 3 10
Bardet-Biedl Syndrome 4 10
Bardet-Biedl Syndrome 5 11
Bardet-Biedl Syndrome 6 12
Bardet-Biedl Syndrome 7 10
Bardet-Biedl Syndrome 8 10
Bardet-Biedl Syndrome 9 10
Bare Lymphocyte Syndrome, Type I 1
Bartter Syndrome Antenatal Type 1 5
Bartter Syndrome Antenatal Type 2 4
Bartter Syndrome Type 4 4
Bartter syndrome, type 5, antenatal, transient 1
Basal cell carcinoma 7 2
Basal Cell Carcinoma, Multiple 3
Basal Ganglia Calcification, Idiopathic, 1 2
Basal Ganglia Calcification, Idiopathic, 4 3
Basal Ganglia Calcification, Idiopathic, 5 2
Basal Ganglia Calcification, Idiopathic, 6 2
Basal ganglia cancification, idiopathic, 7, autosomal recessive 1
Basal Ganglia Disease, Biotin-Responsive 7
Basal Laminar Drusen 2
Basel-Vanagait-Smirin-Yosef Syndrome 2
Becker Muscular Dystrophy 5
Beckwith-Wiedemann Syndrome 10
Behr Syndrome 5
Benign Familial Hematuria 3
Benign Familial Neonatal Seizures 1 3
Benign Familial Neonatal-Infantile Seizures 5
Benign Hereditary Chorea 1
Benign Recurrent Intrahepatic Cholestasis 1 3
Benign Recurrent Intrahepatic Cholestasis 2 2
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 9
Bent bone dysplasia syndrome 7
Bernard Soulier Syndrome 10
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 6
Bestrophinopathy, Autosomal Recessive 8
Beta-D-Mannosidosis 2
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency 3
Bethlem Myopathy 11
Bethlem Myopathy 4
Bethlem Myopathy 2 8
BH4-Deficient Hyperphenylalaninemia D 3
Bietti Crystalline Corneoretinal Dystrophy 3
Bifid Nose With Or Without Anorectal And Renal Anomalies 2
Bile Acid Malabsorption, Primary 1
Bile Acid Synthesis Defect, Congenital, 1 3
Bile Acid Synthesis Defect, Congenital, 2 3
Bile Acid Synthesis Defect, Congenital, 3 2
Bile Acid Synthesis Defect, Congenital, 4 1
Bile Acid Synthesis Defect, Congenital, 5 2
Birk Barel Mental Retardation Dysmorphism Syndrome 1
Birt-Hogg-Dube Syndrome 3
Bjornstad Syndrome 4
Bladder Cancer 5
Bleeding Disorder, Platelet-Type, 11 3
Bleeding Disorder, Platelet-Type, 13, Susceptibility To 3
Bleeding Disorder, Platelet-Type, 14 2
Bleeding Disorder, Platelet-Type, 15 3
Bleeding disorder, platelet-type, 16, autosomal dominant 5
Bleeding Disorder, Platelet-Type, 17 3
Bleeding Disorder, Platelet-Type, 19 3
Bleeding Disorder, Platelet-Type, 21 1
Bleeding Disorder, Platelet-Type, 8 4
Bleeding Disorder, Platelet-Type, 9 2
Blepharocheilodontic syndrome 1 3
Blepharocheilodontic syndrome 2 2
Blepharophimosis, Ptosis, And Epicanthus Inversus 8
Blood Group, Cromer System 1
Blood Group--Diego System 1
Blood Group--Froese 1
Blood Group--I System 1
Blood Group--Lutheran Inhibitor 3
Blood Group--Swann System 1
Blood Group--Waldner Type 1
Blood Group--Wright Antigen 1
Bloom Syndrome 7
Body Mass Index Quantitative Trait Locus 12 4
Body Mass Index Quantitative Trait Locus 4 1
Body Mass Index Quantitative Trait Locus 9 1
Bohring-Opitz Syndrome 4
Bone Marrow Failure Syndrome 1 5
Bone Marrow Failure Syndrome 2 2
Bone Marrow Failure Syndrome 3 4
Bone marrow failure syndrome 4 1
Bone marrow failure syndrome 5 1
Bone Mineral Density QTL18, Osteoporosis 5
Boomerang Dysplasia 4
Borjeson-Forssman-Lehmann Syndrome 6
Bosch-Boonstra-Schaaf optic atrophy syndrome 5
Bosma arhinia microphthalmia syndrome 4
Bothnia Retinal Dystrophy 7
Boucher-Neuhauser syndrome 2
Bowen-Conradi Syndrome 1
Brachydactyly Type A1 2
Brachydactyly Type A2 5
Brachydactyly Type C 4
Brachydactyly, type A1, C 3
Brachydactyly, Type A1, D 1
Brachydactyly, Type B1 3
Brachydactyly, Type B2 4
Brachydactyly, Type D 2
Brachydactyly, Type E1 2
Brachydactyly, Type E2 2
Brachydactyly-Syndactyly Syndrome 1
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 3
Brachyolmia Type 3 4
Brain abnormalities, neurodegeneration, and dysosteosclerosis 1
Brain malformations with or without urinary tract defects 2
Brain small vessel disease 3 3
Brain Small Vessel Disease With Hemorrhage 4
Branched-chain ketoacid dehydrogenase kinase deficiency 5
Branchiooculofacial Syndrome 5
Branchiootic syndrome 1 6
Branchiootic Syndrome 3 6
Branchiootorenal Syndrome 1, with or without Cataracts 7
Branchiootorenal Syndrome 2 5
Breast-Ovarian Cancer, Familial 1 14
Breast-Ovarian Cancer, Familial 2 14
Breast-Ovarian Cancer, Familial 3 6
Breast-Ovarian Cancer, Familial 4 8
Brittle Cornea Syndrome 1 6
Brittle Cornea Syndrome 2 7
Brody Myopathy 2
Bronchiectasis 3
Bronchiectasis With Or Without Elevated Sweat Chloride 2 1
Bronchiectasis With Or Without Elevated Sweat Chloride 3 1
Brown-Vialetto-Van Laere Syndrome 3
Brown-Vialetto-Van Laere syndrome 2 4
Bruck syndrome 1 2
Bruck Syndrome 2 6
Brugada Syndrome 1 6
Brugada Syndrome 2 7
Brugada Syndrome 3 6
Brugada Syndrome 4 9
Brugada Syndrome 5 5
Brugada Syndrome 6 6
Brugada Syndrome 7 6
Brugada Syndrome 8 6
Brugada Syndrome 9 4
Budd-Chiari Syndrome 1
Bulbo-Spinal Atrophy X-Linked 2
Burn-McKeown Syndrome 1
Butyrylcholinesterase Deficiency 1
C Syndrome 1
C1q Deficiency 1
Caffey Disease 6
Calcification Of Joints And Arteries 1
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia 1
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 1
Camptodactyly, Tall Stature, And Hearing Loss Syndrome 10
Camptomelic Dysplasia 10
Camptosynpolydactyly, Complex 3
Camurati-Engelmann Disease 5
Candidiasis, Familial, 2 1
Candidiasis, Familial, 5 1
Candidiasis, Familial, 6 1
Candidiasis, Familial, 7 2
Candidiasis, familial, 9 1
Capillary Malformation-Arteriovenous Malformation 2
Capillary malformation-arteriovenous malformation 2 2
CAPOS syndrome 4
CARASIL Syndrome 6
Carbohydrate-Deficient Glycoprotein Syndrome Type II 2
Carcinoid Tumors, Intestinal 4
Cardiac Conduction Disease with or without Dilated Cardiomyopathy 1
Cardiac valvular defect, developmental 2
Cardiac Valvular Dysplasia, X-Linked 9
Cardiac, facial, and digital anomalies with developmental delay 1
Cardio-Facio-Cutaneous Syndrome 7
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 6
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 4
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 3
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 3
Cardiofaciocutaneous syndrome 2 7
Cardiofaciocutaneous syndrome 3 8
Cardiofaciocutaneous syndrome 4 7
Cardiomyopathy Dilated With Woolly Hair And Keratoderma 7
Cardiomyopathy, Dilated, 1gg 1
Cardiomyopathy, Dilated, 1Hh 4
Cardiomyopathy, dilated, 1II 4
Cardiomyopathy, dilated, 1JJ 4
Cardiomyopathy, Dilated, 1KK 7
Cardiomyopathy, dilated, 1NN 1
Cardiomyopathy, Dilated, 2B 3
Cardiomyopathy, dilated, 2C 2
Cardiomyopathy, Dilated, 3B 6
Cardiomyopathy, familial hypertrophic 2
Cardiomyopathy, familial hypertrophic 27 3
Cardiomyopathy, Familial Hypertrophic, 17 5
Cardiomyopathy, Familial Hypertrophic, 19 2
Cardiomyopathy, familial restrictive 5 3
Cardiomyopathy, Familial Restrictive, 1 3
Cardiomyopathy, Familial Restrictive, 3 2
Cardiospondylocarpofacial Syndrome 1
Carney Complex Variant 2
Carney Complex, Type 1 5
Carnitine Palmitoyltransferase I Deficiency 5
Carnitine Palmitoyltransferase II Deficiency, Infantile 5
Carnitine Palmitoyltransferase II Deficiency, Late-Onset 5
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 5
Carnitine-Acylcarnitine Translocase Deficiency 6
Carpenter Syndrome 2
Carpenter Syndrome 2 1
Caspase-8 Deficiency 2
Cataract 10 5
Cataract 11 5
Cataract 12 4
Cataract 13 4
Cataract 14 5
Cataract 15 5
Cataract 16 5
Cataract 17 5
Cataract 18 4
Cataract 19 5
Cataract 2 5
Cataract 20 4
Cataract 21 7
Cataract 22 5
Cataract 23 6
Cataract 3 5
Cataract 30 4
Cataract 31 5
Cataract 33 5
Cataract 34, multiple types 5
Cataract 36 4
Cataract 38 6
Cataract 39 5
Cataract 4 4
Cataract 41 5
Cataract 42 2
Cataract 43 1
Cataract 44 1
Cataract 45 3
Cataract 46, juvenile-onset 1
Cataract 47 4
Cataract 5 4
Cataract 6 4
Cataract 9 5
Cataract, Congenital, X-Linked 7
Cataract, Zonular Pulverulent 1 5
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 3
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 8
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 6
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness 4
Catel-Manzke Syndrome 3
CATSPER-Related Male Infertility 4
Cd59 Deficiency 1
Cd8 Deficiency, Familial 1
Celiac Disease 3 2
Celiac Disease 4 1
Central areolar choroidal dystrophy 1 1
Central Core Disease 7
Central Precocious Puberty 1
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency 5
Centronuclear myopathy 5 2
Cerebellar ataxia and hypogonadotropic hypogonadism 1
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 1
Cerebellar atrophy, developmental delay, and seizures 1
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation 4
Cerebellar, ocular, craniofacial, and genital syndrome 2
Cerebral Amyloid Angiopathy, App-Related 2
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 5
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 6
Cerebral Cavernous Malformations 1 4
Cerebral Cavernous Malformations 2 4
Cerebral Cavernous Malformations 3 2
Cerebral Creatine Deficiency Syndrome 1 5
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome 1
Cerebral Folate Deficiency 8
Cerebral Palsy, Spastic Quadriplegic, 1 2
Cerebral Palsy, Spastic Quadriplegic, 2 2
Cerebro-Oculo-Facio-Skeletal Syndrome 5
Cerebrocostomandibular syndrome 1
Cerebrooculofacioskeletal Syndrome 2 5
Cerebrooculofacioskeletal syndrome 3 6
Cerebrooculofacioskeletal Syndrome 4 6
Cerebroretinal Microangiopathy with Calcifications and Cysts 8
Cerebroretinal microangiopathy with calcifications and cysts 2 3
Cerebrotendinous Xanthomatosis 7
Ceroid Lipofuscinosis Neuronal 1 9
Ceroid Lipofuscinosis Neuronal 10 7
Ceroid Lipofuscinosis Neuronal 11 3
Ceroid Lipofuscinosis Neuronal 12 6
Ceroid Lipofuscinosis Neuronal 13 5
Ceroid Lipofuscinosis Neuronal 14 4
Ceroid Lipofuscinosis Neuronal 2 8
Ceroid Lipofuscinosis Neuronal 3 8
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 4
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant 5
Ceroid Lipofuscinosis Neuronal 5 7
Ceroid Lipofuscinosis Neuronal 6 7
Ceroid Lipofuscinosis Neuronal 7 8
Ceroid Lipofuscinosis Neuronal 8 6
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant 6
Cervical Cancer 4
Chanarin-Dorfman Syndrome 3
CHAND syndrome 1
Char Syndrome 2
Charcot-Marie-Tooth Disease Dominant Intermediate 3 4
Charcot-Marie-Tooth Disease Type 2B 5
Charcot-Marie-Tooth Disease Type 2B1 10
Charcot-Marie-Tooth Disease Type 2B2 3
Charcot-Marie-Tooth Disease Type 2C 7
Charcot-Marie-Tooth Disease Type 2D 7
Charcot-Marie-Tooth Disease Type 2E 5
Charcot-Marie-Tooth Disease Type 2F 6
Charcot-Marie-Tooth Disease Type 2I 5
Charcot-Marie-Tooth Disease Type 2J 5
Charcot-Marie-Tooth Disease Type 2K 4
Charcot-Marie-Tooth disease, axonal, type 2A2B 4
Charcot-Marie-Tooth disease, axonal, type 2DD 1
Charcot-Marie-Tooth disease, axonal, type 2EE 1
Charcot-Marie-Tooth Disease, Axonal, Type 2O 7
Charcot-Marie-Tooth disease, axonal, type 2W 1
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive 4
Charcot-Marie-Tooth Disease, Dominant Intermediate B 6
Charcot-Marie-Tooth Disease, Dominant Intermediate C 5
Charcot-Marie-Tooth Disease, Dominant Intermediate E 4
Charcot-Marie-Tooth Disease, Dominant Intermediate F 6
Charcot-Marie-Tooth Disease, Recessive Intermediate A 4
Charcot-Marie-Tooth Disease, Recessive Intermediate B 8
Charcot-Marie-Tooth Disease, Recessive Intermediate C 4
Charcot-Marie-Tooth Disease, Recessive Intermediate D 6
Charcot-Marie-Tooth Disease, Type 1A 4
Charcot-Marie-Tooth Disease, Type 1D 3
Charcot-Marie-Tooth Disease, Type 1E 4
Charcot-Marie-Tooth Disease, Type 1F 5
Charcot-Marie-Tooth Disease, Type 2A2 10
Charcot-Marie-Tooth Disease, Type 2L 7
Charcot-Marie-Tooth Disease, Type 2N 4
Charcot-Marie-Tooth Disease, Type 2Q 3
Charcot-Marie-Tooth Disease, Type 2R 5
Charcot-Marie-Tooth Disease, Type 2S 4
Charcot-Marie-Tooth Disease, Type 2T 1
Charcot-Marie-Tooth Disease, Type 2U 5
Charcot-Marie-Tooth Disease, Type 2Y 2
Charcot-Marie-Tooth Disease, Type 3 7
Charcot-Marie-Tooth Disease, Type 4A 4
Charcot-Marie-Tooth Disease, Type 4B1 7
Charcot-Marie-Tooth Disease, Type 4B2 10
Charcot-Marie-Tooth Disease, Type 4B3 6
Charcot-Marie-Tooth Disease, Type 4C 6
Charcot-Marie-Tooth Disease, Type 4D 5
Charcot-Marie-Tooth Disease, Type 4E 5
Charcot-Marie-Tooth Disease, Type 4F 7
Charcot-Marie-Tooth Disease, Type 4H 4
Charcot-Marie-Tooth Disease, Type 4J 10
Charcot-Marie-Tooth Disease, Type 4K 1
Charcot-Marie-Tooth Disease, Type Ib 5
Charcot-Marie-Tooth Disease, Type IC 4
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 4
Charcot-Marie-Tooth Disease, X-linked Dominant, 6 5
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 8
Charcot-Marie-Toothe Disease, Type 2P 3
CHARGE Association 16
Chediak-Higashi Syndrome 10
Cherubism 4
Chilblain Lupus Erythematosus 1
Child Syndrome 6
Childhood Hypophosphatasia 6
CHIME syndrome 4
Chitayat Syndrome 2
CHMP2B-Related Frontotemporal Dementia 4
Choanal Atresia And Lymphedema 1
Cholecystitis 1
Cholestasis Of Pregnancy 1
Cholestasis, intrahepatic, of pregnancy, 3 1
Cholestasis, Progressive Familial Intrahepatic 2 3
Cholestasis, Progressive Familial Intrahepatic 3 4
Cholestasis, Progressive Familial Intrahepatic 4 4
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency 6
Chondrocalcinosis 2 1
Chondrodysplasia Acromesomelic With Genital Anomalies 2
Chondrodysplasia Blomstrand Type 3
Chondrodysplasia Punctata 1, X-Linked Recessive 4
Chondrodysplasia Punctata 2 X-Linked Dominant 5
Chondrodysplasia with Joint Dislocations, Gpapp Type 3
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 2
CHOPS Syndrome 5
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 4
Choroid Plexus Papilloma 5
Choroidal Dystrophy, Central Areolar 2 4
Choroideremia 8
Chromosome 9Q Deletion Syndrome 5
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 5
Chronic Infantile Neurological, Cutaneous And Articular Syndrome 7
Chudley-McCullough syndrome 3
Chylomicron Retention Disease 1
Ciliary Dyskinesia, Primary, 1 9
Ciliary Dyskinesia, Primary, 10 7
Ciliary Dyskinesia, Primary, 11 5
Ciliary Dyskinesia, Primary, 12 5
Ciliary Dyskinesia, Primary, 13 7
Ciliary Dyskinesia, Primary, 14 7
Ciliary Dyskinesia, Primary, 15 7
Ciliary Dyskinesia, Primary, 16 6
Ciliary Dyskinesia, Primary, 17 6
Ciliary Dyskinesia, Primary, 18 6
Ciliary Dyskinesia, Primary, 19 6
Ciliary Dyskinesia, Primary, 2 7
Ciliary Dyskinesia, Primary, 20 6
Ciliary Dyskinesia, Primary, 21 4
Ciliary Dyskinesia, Primary, 22 6
Ciliary Dyskinesia, Primary, 23 3
Ciliary Dyskinesia, Primary, 24 4
Ciliary Dyskinesia, Primary, 25 4
Ciliary Dyskinesia, Primary, 26 6
Ciliary Dyskinesia, Primary, 27 4
Ciliary Dyskinesia, Primary, 28 4
Ciliary Dyskinesia, primary, 29 4
Ciliary Dyskinesia, Primary, 3 6
Ciliary Dyskinesia, Primary, 30 5
Ciliary Dyskinesia, Primary, 32 3
Ciliary Dyskinesia, Primary, 33 3
Ciliary Dyskinesia, Primary, 34 3
Ciliary Dyskinesia, Primary, 35 4
Ciliary Dyskinesia, Primary, 36 4
Ciliary Dyskinesia, Primary, 37 4
Ciliary dyskinesia, primary, 38 1
Ciliary dyskinesia, primary, 39 1
Ciliary dyskinesia, primary, 40 1
Ciliary Dyskinesia, Primary, 6 6
Ciliary Dyskinesia, Primary, 7 7
Ciliary Dyskinesia, Primary, 9 6
Citrin Deficiency 6
Citrullinemia Type I 3
Citrullinemia Type II 6
CK syndrome 5
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome 4
Cleft Palate X-Linked 3
Cleft palate, cardiac defects, and mental retardation 1
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 5
Cleidocranial Dysostosis 2
CLOVE syndrome, somatic 1
COACH Syndrome 8
Cockayne Syndrome Type I 7
Cockayne Syndrome, Type B 5
Cocoon Syndrome 1
CODAS syndrome 1
Coenzyme Q10 Deficiency 7
Coenzyme Q10 Deficiency, Primary, 2 4
Coenzyme Q10 deficiency, primary, 3 6
Coenzyme Q10 Deficiency, Primary, 4 4
Coenzyme Q10 Deficiency, Primary, 5 6
Coenzyme Q10 deficiency, primary, 6 4
Coenzyme Q10 Deficiency, Primary, 7 3
Coenzyme Q10 Deficiency, Primary, 8 1
Coffin-Lowry Syndrome 3
Coffin-Siris Syndrome 1 8
Coffin-Siris Syndrome 2 5
Coffin-Siris Syndrome 3 4
Coffin-Siris Syndrome 4 6
Coffin-Siris Syndrome 5 3
Coffin-Siris syndrome 7 3
Cognitive Impairment With Or Without Cerebellar Ataxia 2
Cohen Syndrome 11
Cohen-Gibson syndrome 1
Cold-Induced Sweating Syndrome 3 1
Cole Disease 2
Cole-Carpenter Syndrome 1 2
Cole-Carpenter Syndrome 2 4
Coloboma Of Optic Disc 3
Coloboma, Ocular 5
Coloboma, ocular, autosomal recessive 2
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 1
Colorectal Cancer 1 2
Colorectal cancer, susceptibility to, 10 7
Colorectal cancer, susceptibility to, 12 6
Combined Cellular And Humoral Immune Defects With Granulomas 3
Combined D-2- and L-2-HydroxyGlutaric Aciduria 5
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 2
Combined Immunodeficiency, X-Linked 3
Combined Malonic And Methylmalonic Aciduria 5
Combined Oxidative Phosphorylation Deficiency 1 3
Combined Oxidative Phosphorylation Deficiency 10 1
Combined Oxidative Phosphorylation Deficiency 11 1
Combined Oxidative Phosphorylation Deficiency 12 3
Combined Oxidative Phosphorylation Deficiency 13 3
Combined oxidative phosphorylation deficiency 14 6
Combined Oxidative Phosphorylation Deficiency 15 5
Combined Oxidative Phosphorylation Deficiency 16 1
Combined Oxidative Phosphorylation Deficiency 17 1
Combined Oxidative Phosphorylation Deficiency 18 1
Combined Oxidative Phosphorylation Deficiency 19 1
Combined Oxidative Phosphorylation Deficiency 2 1
Combined Oxidative Phosphorylation Deficiency 20 1
Combined Oxidative Phosphorylation Deficiency 21 1
Combined Oxidative Phosphorylation Deficiency 22 2
Combined Oxidative Phosphorylation Deficiency 23 2
Combined Oxidative Phosphorylation Deficiency 24 3
Combined Oxidative Phosphorylation Deficiency 25 1
Combined Oxidative Phosphorylation Deficiency 26 2
Combined Oxidative Phosphorylation Deficiency 27 3
Combined Oxidative Phosphorylation Deficiency 3 4
Combined Oxidative Phosphorylation Deficiency 30 2
Combined oxidative phosphorylation deficiency 31 1
Combined oxidative phosphorylation deficiency 33 1
Combined Oxidative Phosphorylation Deficiency 34 1
Combined Oxidative Phosphorylation Deficiency 35 1
Combined oxidative phosphorylation deficiency 36 3
Combined Oxidative Phosphorylation Deficiency 4 2
Combined Oxidative Phosphorylation Deficiency 5 2
Combined Oxidative Phosphorylation Deficiency 6 8
Combined Oxidative Phosphorylation Deficiency 7 10
Combined Oxidative Phosphorylation Deficiency 8 1
Combined Oxidative Phosphorylation Deficiency 9 2
Combined Saposin Deficiency 2
COMMAD syndrome 3
Common Variable Agammaglobulinemia 4
Complement Component 2 Deficiency 1
Complement Component 3 Deficiency, Autosomal Recessive 2
Complement Component 4, Partial Deficiency Of 2
Complement Component 6 Deficiency 1
Complement Component 7 Deficiency 1
Complement Component 8 Deficiency Type 1 1
Complement Component 8 Deficiency Type 2 1
Complement Component 9 Deficiency 1
Complement Component c1s Deficiency 2
Complement factor B deficiency 2
Complement Factor D Deficiency 1
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 2
Complete Trisomy 21 Syndrome 2
Cone Dystrophy 3 4
Cone Dystrophy 4 6
Cone-Rod Dystrophy 10 4
Cone-Rod Dystrophy 11 4
Cone-Rod Dystrophy 12 4
Cone-Rod Dystrophy 13 8
Cone-rod dystrophy 14 3
Cone-Rod Dystrophy 15 7
Cone-rod dystrophy 16 9
Cone-Rod Dystrophy 18 3
Cone-Rod Dystrophy 19 3
Cone-Rod Dystrophy 2 7
Cone-Rod Dystrophy 20 4
Cone-Rod Dystrophy 21 4
Cone-Rod Dystrophy 3 6
Cone-Rod Dystrophy 5 7
Cone-Rod Dystrophy 6 6
Cone-Rod Dystrophy 7 5
Cone-Rod Dystrophy 9 5
Cone-Rod Dystrophy and Hearing Loss 3
Cone-rod dystrophy and hearing loss 2 1
Cone-Rod Dystrophy X-Linked 3 6
Cone-Rod Dystrophy, X-Linked, 1 6
Congenital Amegakaryocytic Thrombocytopenia 5
Congenital Aniridia 8
Congenital Anomalies of Kidney and Urinary Tract 2 1
Congenital anomalies of kidney and urinary tract 3 2
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay 1
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to 5
Congenital Bilateral Absence Of The Vas Deferens 5
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 8
Congenital Cataracts, Hearing Loss, and Neurodegeneration 6
Congenital Central Hypoventilation syndrome 15
Congenital Contractural Arachnodactyly 7
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 6
Congenital Cystic Disease Of Liver 5
Congenital Disorder of Deglycosylation 2
Congenital Disorder Of Glycosylation Type 1A 4
Congenital Disorder Of Glycosylation Type 1B 3
Congenital Disorder Of Glycosylation Type 1C 3
Congenital Disorder Of Glycosylation Type 1D 3
Congenital Disorder Of Glycosylation Type 1E 7
Congenital Disorder Of Glycosylation Type 1F 3
Congenital Disorder Of Glycosylation Type 1G 4
Congenital Disorder Of Glycosylation Type 1H 5
Congenital Disorder Of Glycosylation Type 1I 6
Congenital Disorder Of Glycosylation Type 1J 2
Congenital Disorder Of Glycosylation Type 1K 2
Congenital Disorder Of Glycosylation Type 1L 2
Congenital Disorder Of Glycosylation Type 1M 4
Congenital Disorder Of Glycosylation Type 1O 6
Congenital Disorder Of Glycosylation Type 1P 2
Congenital Disorder Of Glycosylation Type 1Q 3
Congenital Disorder Of Glycosylation Type 2C 4
Congenital Disorder Of Glycosylation Type 2D 1
Congenital Disorder Of Glycosylation Type 2E 1
Congenital Disorder Of Glycosylation Type 2F 1
Congenital Disorder Of Glycosylation Type 2G 2
Congenital Disorder Of Glycosylation Type 2I 1
Congenital Disorder Of Glycosylation Type IIb 3
Congenital Disorder Of Glycosylation Type IIh 1
Congenital Disorder Of Glycosylation Type IIj 4
Congenital Disorder of Glycosylation Type IIk 2
Congenital Disorder of Glycosylation Type IIl 2
Congenital Disorder of Glycosylation Type IIm 7
Congenital Disorder of Glycosylation Type IIn 1
Congenital Disorder of Glycosylation Type IIo 1
Congenital Disorder of Glycosylation Type IIp 1
Congenital Disorder of Glycosylation Type IIq 1
Congenital Disorder Of Glycosylation Type In 1
Congenital Disorder of Glycosylation Type Ir 1
Congenital Disorder of Glycosylation Type It 6
Congenital Disorder of Glycosylation Type Iu 6
Congenital Disorder of Glycosylation Type Iw 1
Congenital Disorder of Glycosylation Type Ix 1
Congenital Disorder of Glycosylation Type Iy 2
Congenital disorder of glycosylation with defective fucosylation 1 1
Congenital Fiber Type Disproportion 9
Congenital Generalized Lipodystrophy Type 1 3
Congenital Generalized Lipodystrophy Type 2 4
Congenital Glucose-Galactose Malabsorption 1
Congenital heart defects and skeletal malformations syndrome 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2
Congenital heart defects, hamartomas of tongue, and polysyndactyly 1
Congenital heart defects, multiple types, 5 1
Congenital heart defects, nonsyndromic, 2 1
Congenital Human Immunodeficiency Virus 1
Congenital Hyperammonemia, Type I 5
Congenital Ichthyosis Of Skin 3
Congenital Lactase Deficiency 1
Congenital Microvillous Atrophy 1
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 9
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B 6
Congenital Myasthenic Syndrome - RAPSN 3
Congenital Myasthenic Syndrome, Acetazolamide-Responsive 4
Congenital Myotonia, Autosomal Dominant Form 3
Congenital Secretory Diarrhea, Chloride Type 1
Congenital Secretory Diarrhea, Sodium Type 2
Congenital Stromal Corneal Dystrophy 3
Conotruncal Heart Malformations 7
Contractures, pterygia, and variable skeletal fusions syndrome 1B 2
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 6
Cornea Plana 2 3
Corneal Dystrophy And Perceptive Deafness 1
Corneal Dystrophy Fuchs Endothelial 1 4
Corneal dystrophy, Fuchs endothelial, 3 2
Corneal Dystrophy, Fuchs Endothelial, 4 1
Corneal Dystrophy, Fuchs Endothelial, 6 2
Corneal Dystrophy, Fuchs Endothelial, 8 3
Corneal Dystrophy, Posterior Polymorphous, 2 4
Corneal Dystrophy, Posterior Polymorphous, 3 1
Corneal dystrophy, posterior polymorphous, 4 2
Corneal Endothelial Dystrophy Type 2 2
Corneal Epithelial Dystrophy 2
Corneal Opacification and Other Ocular Anomalies 6
Cornelia de Lange syndrome 1 8
Cornelia de Lange syndrome 2 11
Cornelia de Lange syndrome 3 7
Cornelia de Lange syndrome 4 7
Cornelia de Lange syndrome 5 8
Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia 2
Corpus Callosum, Partial Agenesis Of, X-Linked 4
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cortical dysplasia, complex, with other brain malformations 10 1
Cortical dysplasia, complex, with other brain malformations 2 2
Cortical dysplasia, complex, with other brain malformations 3 3
Cortical Dysplasia, Complex, with other Brain Malformations 4 4
Cortical Dysplasia, Complex, with other Brain Malformations 5 3
Cortical dysplasia, complex, with other brain malformations 6 2
Cortical dysplasia, complex, with other brain malformations 9 4
Cortical Dysplasia-Focal Epilepsy Syndrome 7
Cortical Malformations, Occipital 3
Corticosterone Methyloxidase Type II Deficiency 1
Costello Syndrome 9
Cousin Syndrome 6
Cowchock Syndrome 7
Cowden Disease 17
Cowden syndrome 3 3
Cowden syndrome 5 4
Cowden syndrome 6 2
Cowden syndrome 7 3
Cowden-Like Syndrome 2
Craniodiaphyseal Dysplasia, Autosomal Dominant 1
Cranioectodermal Dysplasia 5
Cranioectodermal Dysplasia 2 6
Cranioectodermal Dysplasia 3 1
Cranioectodermal Dysplasia 4 2
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome 2
Craniofacial Deafness Hand Syndrome 3
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 1
Craniofrontonasal Dysplasia 6
Craniolenticulosutural Dysplasia 2
Craniometaphyseal Dysplasia, Autosomal Dominant 1
Craniometaphyseal dysplasia, autosomal recessive 3
Craniosynostosis 3 5
Craniosynostosis 4 2
Craniosynostosis 6 2
Craniosynostosis And Dental Anomalies 3
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 1
Craniosynostosis, Type 1 4
Craniosynostosis, Type 2 4
Creatine Phosphokinase, Elevated Serum 1
Crigler-Najjar Syndrome, Type I 1
Crigler-Najjar Syndrome, Type II 1
Crouzon Syndrome 8
Crouzon Syndrome With Acanthosis Nigricans 8
Cryohydrocytosis 1
Cryptophthalmos, unilateral or bilateral, isolated 1
Cryptorchidism, Unilateral Or Bilateral 3
Culler-Jones Syndrome 4
Currarino Syndrome 3
Cushing's Symphalangism 4
Cutaneous Malignant Melanoma 1 2
Cutaneous Telangiectasia and Cancer Syndrome, Familial 2
Cutis Gyrata Syndrome Of Beare And Stevenson 4
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 3
Cutis Laxa, Autosomal Dominant 6
Cutis Laxa, Autosomal Dominant 2 7
Cutis Laxa, Autosomal Dominant 3 4
Cutis Laxa, Autosomal Recessive, Type IA 8
Cutis Laxa, Autosomal Recessive, Type IB 7
Cutis Laxa, Autosomal Recessive, Type IIA 7
Cutis Laxa, Autosomal Recessive, Type IIB 6
Cutis Laxa, Autosomal Recessive, Type IIC 3
Cutis Laxa, Autosomal Recessive, Type IID 3
Cutis Laxa, Autosomal Recessive, Type IIIB 5
Cyclical Neutropenia 6
Cystathioninuria 1
Cystic Fibrosis 9
Cystinosis 2
Cystinosis, Ocular Nonnephropathic 2
Cystinuria 4
Czech Dysplasia Metatarsal Type 9
D-2-Alpha Hydroxyglutaric Aciduria 4
D-2-Hydroxyglutaric Aciduria 2 5
D-Bifunctional Protein Deficiency 3
Danon Disease 9
De Sanctis-Cacchione Syndrome 3
Deafness , autosomal recessive 86 1
Deafness and myopia 1
Deafness autosomal recessive 106 1
Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) 3
Deafness, Autosomal Dominant 1 2
Deafness, Autosomal Dominant 10 4
Deafness, Autosomal Dominant 11 1
Deafness, Autosomal Dominant 12 3
Deafness, Autosomal Dominant 13 5
Deafness, Autosomal Dominant 15 2
Deafness, Autosomal Dominant 17 4
Deafness, Autosomal Dominant 20 2
Deafness, Autosomal Dominant 22 5
Deafness, Autosomal Dominant 23 2
Deafness, Autosomal Dominant 25 2
Deafness, Autosomal Dominant 28 3
Deafness, Autosomal Dominant 2A 3
Deafness, Autosomal Dominant 2B 4
Deafness, autosomal dominant 34, with or without inflammation 3
Deafness, Autosomal Dominant 36 3
Deafness, autosomal dominant 37 1
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 1
Deafness, Autosomal Dominant 3A 2
Deafness, Autosomal Dominant 3B 2
Deafness, Autosomal Dominant 4 3
Deafness, Autosomal Dominant 40 2
Deafness, autosomal dominant 41 1
Deafness, Autosomal Dominant 44 3
Deafness, Autosomal Dominant 4B 2
Deafness, Autosomal Dominant 5 1
Deafness, Autosomal Dominant 50 1
Deafness, Autosomal Dominant 51 1
Deafness, autosomal dominant 56 1
Deafness, Autosomal Dominant 6 4
Deafness, Autosomal Dominant 64 2
Deafness, autosomal dominant 65 1
Deafness, autosomal dominant 66 1
Deafness, autosomal dominant 67 1
Deafness, autosomal dominant 68 1
Deafness, Autosomal Dominant 69 2
Deafness, autosomal dominant 70 1
Deafness, autosomal dominant 71 1
Deafness, autosomal dominant 72 1
Deafness, autosomal dominant 73 1
Deafness, autosomal dominant 74 1
Deafness, Autosomal Dominant 9 3
Deafness, autosomal recessive 101 1
Deafness, autosomal recessive 102 1
Deafness, autosomal recessive 103 1
Deafness, autosomal recessive 104 1
Deafness, autosomal recessive 105 1
Deafness, autosomal recessive 107 1
Deafness, autosomal recessive 108 1
Deafness, autosomal recessive 110 1
Deafness, autosomal recessive 111 1
Deafness, autosomal recessive 112 1
Deafness, autosomal recessive 113 1
Deafness, autosomal recessive 114 1
Deafness, autosomal recessive 115 1
Deafness, Autosomal Recessive 12 2
Deafness, Autosomal Recessive 15 2
Deafness, Autosomal Recessive 16 1
Deafness, Autosomal Recessive 18 2
Deafness, autosomal recessive 18B 1
Deafness, Autosomal Recessive 1A 6
Deafness, Autosomal Recessive 1B 2
Deafness, Autosomal Recessive 2 1
Deafness, Autosomal Recessive 21 3
Deafness, Autosomal Recessive 22 2
Deafness, Autosomal Recessive 23 2
Deafness, Autosomal Recessive 24 2
Deafness, Autosomal Recessive 25 2
Deafness, Autosomal Recessive 28 4
Deafness, Autosomal Recessive 29 3
Deafness, Autosomal Recessive 3 3
Deafness, Autosomal Recessive 30 3
Deafness, Autosomal Recessive 31 3
Deafness, autosomal recessive 32, with or without immotile sperm 1
Deafness, Autosomal Recessive 35 3
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement 1
Deafness, Autosomal Recessive 37 3
Deafness, Autosomal Recessive 39 3
Deafness, Autosomal Recessive 42 3
Deafness, autosomal recessive 44 1
Deafness, Autosomal Recessive 48 4
Deafness, Autosomal Recessive 49 2
Deafness, Autosomal Recessive 53 4
Deafness, autosomal recessive 57 2
Deafness, Autosomal Recessive 59 3
Deafness, Autosomal Recessive 6 2
Deafness, Autosomal Recessive 61 3
Deafness, Autosomal Recessive 63 2
Deafness, autosomal recessive 66 1
Deafness, Autosomal Recessive 67 3
Deafness, autosomal recessive 68 1
Deafness, Autosomal Recessive 7 3
Deafness, autosomal recessive 70 1
Deafness, Autosomal Recessive 74 2
Deafness, autosomal recessive 76 1
Deafness, Autosomal Recessive 77 3
Deafness, Autosomal Recessive 79 1
Deafness, Autosomal Recessive 8/10 2
Deafness, Autosomal Recessive 84 1
Deafness, autosomal recessive 84B 1
Deafness, autosomal recessive 88 1
Deafness, autosomal recessive 89 2
Deafness, Autosomal Recessive 9 3
Deafness, Autosomal Recessive 91 2
Deafness, autosomal recessive 93 1
Deafness, autosomal recessive 94 1
Deafness, autosomal recessive 97 1
Deafness, autosomal recessive 98 1
Deafness, autosomal recessive 99 1
Deafness, congenital heart defects, and posterior embryotoxon 1
Deafness, Dystonia, and Cerebral Hypomyelination 2
Deafness, X-Linked 1 3
Deafness, X-Linked 2 2
Deafness, X-Linked 4 3
Deafness, X-Linked 5 5
Deafness, X-linked 6 5
Deafness, X-linked 7 1
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase 6
Deficiency Of Alpha-Mannosidase 2
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase 2
Deficiency Of Butyryl-CoA Dehydrogenase 5
Deficiency Of Galactokinase 6
Deficiency Of Guanidinoacetate Methyltransferase 4
Deficiency Of Pyrroline-5-Carboxylate Reductase 1
Deficiency Of Steroid 17-Alpha-Monooxygenase 7
Deficiency Of Transaldolase 2
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency 4
Dent Disease 1 6
Dent Disease 2 8
Dental Anomalies and Short Stature 4
Dentatorubral Pallidoluysian Atrophy 1
Denticles 2
Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth 1
Dentinogenesis Imperfecta - Shield's Type II 2
Dentinogenesis Imperfecta Shields Type 3 2
Dermatitis, Atopic, 2 1
Dermatofibrosis Lenticularis Disseminata 1
Dermatopathia Pigmentosa Reticularis 3
Desanto-Shinawi syndrome 2
Desbuquois Dysplasia 2 2
Desbuquois Syndrome 3
Desmoid Disease, Hereditary 1
Desmosterolosis 4
Developmental Delay and Seizures with or without Movement Abnormalities 2
Developmental delay with or without dysmorphic facies and autism 1
Developmental delay, intellectual disability, obesity, and dysmorphic features 1
Diabetes Insipidus, Nephrogenic, Autosomal 3
Diabetes Insipidus, Nephrogenic, X-Linked 3
Diabetes Insipidus, Neurohypophyseal 3
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness 8
Diabetes Mellitus Type 1 3
Diabetes Mellitus, Insulin-Dependent, 10 2
Diabetes Mellitus, Insulin-Dependent, 12 2
Diabetes Mellitus, Insulin-Dependent, 2 1
Diabetes Mellitus, Insulin-Dependent, 20 2
Diabetes Mellitus, Ketosis-Prone 1
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism 3
Diabetes Mellitus, Noninsulin-Dependent 19
Diamond Blackfan anemia 15 with mandibulofacial dysostosis 1
Diamond-Blackfan Anemia 1 4
Diamond-Blackfan Anemia 10 4
Diamond-Blackfan Anemia 11 4
Diamond-Blackfan Anemia 12 5
Diamond-Blackfan anemia 13 2
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
Diamond-Blackfan anemia 16 1
Diamond-Blackfan anemia 17 1
Diamond-Blackfan Anemia 3 4
Diamond-Blackfan Anemia 4 4
Diamond-Blackfan Anemia 5 4
Diamond-Blackfan Anemia 6 4
Diamond-Blackfan Anemia 7 4
Diamond-Blackfan Anemia 8 5
Diamond-Blackfan Anemia 9 4
Diaphanospondylodysostosis 3
Diaphragmatic Hernia 3 2
Diarrhea 10, protein-losing enteropathy type 2
Diarrhea 4, Malabsorptive, Congenital 1
Diarrhea 5, With Tufting Enteropathy, Congenital 5
Diarrhea 6 2
Diarrhea 7, protein-losing enteropathy type 1
Diarrhea 8, secretory sodium, congenital 1
Diarrhea 9 1
Dias-Logan Syndrome 3
Diastrophic Dysplasia 6
Digeorge Sequence 2
Digital Clubbing, Isolated Congenital 2
Dihydrolipoamide dehydrogenase deficiency 5
Dihydropteridine Reductase Deficiency 2
Dihydropyrimidinase Deficiency 1
Dihydropyrimidine Dehydrogenase Deficiency 1
Dilated Cardiomyopathy 1A 13
Dilated Cardiomyopathy 1Aa 7
Dilated Cardiomyopathy 1BB 2
Dilated Cardiomyopathy 1C 7
Dilated Cardiomyopathy 1CC 6
Dilated Cardiomyopathy 1D 3
Dilated Cardiomyopathy 1DD 4
Dilated Cardiomyopathy 1E 3
Dilated Cardiomyopathy 1Ee 6
Dilated Cardiomyopathy 1FF 3
Dilated Cardiomyopathy 1G 2
Dilated Cardiomyopathy 1I 6
Dilated Cardiomyopathy 1J 5
Dilated Cardiomyopathy 1L 5
Dilated Cardiomyopathy 1M 2
Dilated Cardiomyopathy 1N 6
Dilated Cardiomyopathy 1O 2
Dilated Cardiomyopathy 1P 6
Dilated Cardiomyopathy 1R 6
Dilated Cardiomyopathy 1S 7
Dilated Cardiomyopathy 1W 4
Dilated Cardiomyopathy 1X 5
Dilated Cardiomyopathy 1Y 5
Dilated Cardiomyopathy 1Z 1
Dilated Cardiomyopathy 2A 6
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 2
Dimethylglycine Dehydrogenase Deficiency 1
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency 4
Distal Hereditary Motor Neuronopathy Type 2A 4
Distal Hereditary Motor Neuronopathy Type 2B 4
Distal Hereditary Motor Neuronopathy Type 5 9
Distal Myopathy Markesbery-Griggs Type 5
Distichiasis-Lymphedema Syndrome 3
Dizygotic Twins 2
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin 2
Dominant Hereditary Optic Atrophy 9
Donnai Barrow Syndrome 3
DOOR syndrome 3
Doyne Honeycomb Retinal Dystrophy 5
Drash Syndrome 5
Duane retraction syndrome 3 3
Duane Syndrome Type 2 3
Duane-Radial Ray Syndrome 5
Dubin-Johnson Syndrome 2
Duchenne Muscular Dystrophy 5
Dyggve-Melchior-Clausen Syndrome 2
Dyserythropoietic Anemia, Congenital, Type Ia 5
Dyserythropoietic Anemia, Congenital, Type Ib 3
Dyserythropoietic Anemia, Congenital, Type II 5
Dyserythropoietic Anemia, Congenital, Type IV 5
Dysfibrinogenemia, congenital 2
Dyskeratosis Congenita Autosomal Dominant 8
Dyskeratosis Congenita Autosomal Recessive 5
Dyskeratosis Congenita X-Linked 9
Dyskeratosis Congenita, Autosomal Dominant 4 8
Dyskeratosis congenita, autosomal dominant 6 1
Dyskeratosis Congenita, Autosomal Dominant, 2 10
Dyskeratosis Congenita, Autosomal Dominant, 3 6
Dyskeratosis Congenita, Autosomal Recessive 6 7
Dyskeratosis Congenita, Autosomal Recessive, 2 5
Dyskeratosis Congenita, Autosomal Recessive, 3 5
Dyskinesia, Seizures, and Intellectual Developmental Disorder 3
Dyssegmental Dysplasia Silverman-Handmaker Type 1
Dystonia 1 3
Dystonia 12 5
Dystonia 16 2
Dystonia 24 2
Dystonia 25 2
Dystonia 27 1
Dystonia 3, Torsion, X-Linked 5
Dystonia 4, Torsion 6
Dystonia 5, Dopa-Responsive Type 4
Dystonia 6, Torsion 2
Dystonia 9 3
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 4
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type 3
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 3
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 1
Ectodermal Dysplasia 3, Witkop Type 4
Ectodermal Dysplasia Skin Fragility Syndrome 4
Ectodermal Dysplasia, 'Pure' Hair-Nail Type 2
Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema 2
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 3
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 3
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 3
Ectodermal Dysplasia/Short Stature Syndrome 3
Ectopia lentis et pupillae 1
Ectopia Lentis, Isolated Autosomal Recessive 1
Ectopia Lentis, Isolated, Autosomal Dominant 6
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 8
EDICT Syndrome 3
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 5
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 3
Ehlers-Danlos syndrome, arthrochalasia type, 2 2
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 7
Ehlers-Danlos Syndrome, Classic Like, 2 3
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 5
Ehlers-Danlos Syndrome, Musculocontractural Type 6
Ehlers-Danlos Syndrome, Musculocontractural Type 2 3
Ehlers-Danlos Syndrome, Periodontal Type, 2 3
Ehlers-Danlos Syndrome, Progeroid Type, 2 4
Ehlers-Danlos Syndrome, Type 1 11
Ehlers-Danlos Syndrome, Type 2 5
Ehlers-Danlos Syndrome, Type 3 1
Ehlers-Danlos Syndrome, Type 4 7
Ehlers-Danlos Syndrome, Type VIIA and VIIB 9
Ehlers-Danlos Syndrome, Type VIIC 3
Ehlers-Danlos Syndrome, Type VIII 4
Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency 3
Eiken Skeletal Dysplasia 2
Elliptocytosis 1 1
Elliptocytosis 2 3
Elliptocytosis 3 2
Ellis-van Creveld Syndrome 12
Emery-Dreifuss Muscular Dystrophy 1, X-Linked 7
Emery-Dreifuss muscular dystrophy 3, AR 8
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 4
Emery-Dreifuss Muscular Dystrophy 7, AD 2
Emery-Dreifuss muscular dystrophy-6 4
Encephalocraniocutaneous lipomatosis 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 1
Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To 2
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To 2
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission 4
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations 3
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 2
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 2
Encephalopathy, progressive, with amyotrophy and optic atrophy 1
Encephalopathy, progressive, with or without lipodystrophy 3
Endocrine-Cerebroosteodysplasia 6
Endometrial Cancer 7
Endplate Acetylcholinesterase Deficiency 4
Enhanced S-Cone Syndrome 2
Enlarged Vestibular Aqueduct Syndrome 6
Enterokinase Deficiency 1
Epidermal Nevus 6
Epidermodysplasia Verruciformis 1
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy 4
Epidermolysis Bullosa Herpetiformis, Dowling-Meara 4
Epidermolysis Bullosa Pruriginosa 2
Epidermolysis Bullosa Simplex 2
Epidermolysis Bullosa Simplex With Mottled Pigmentation 2
Epidermolysis bullosa simplex with nail dystrophy 3
Epidermolysis Bullosa Simplex With Pyloric Atresia 3
Epidermolysis Bullosa Simplex, Autosomal Recessive 3
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 2
Epidermolysis Bullosa Simplex, Cockayne-Touraine Type 6
Epidermolysis Bullosa Simplex, Koebner Type 4
Epidermolysis Bullosa Simplex, Ogna Type 4
Epidermolysis Bullosa With Pyloric Atresia 6
Epidermolysis Bullosa, Lethal Acantholytic 4
Epidermolysis Bullosa, Pretibial 2
Epidermolytic Hyperkeratosis 5
Epilepsy Juvenile Absence 2
Epilepsy, Childhood Absence 2 2
Epilepsy, Childhood Absence 5 4
Epilepsy, Childhood Absence 6 2
Epilepsy, Early-Onset, Vitamin B6-Dependent 2
Epilepsy, familial focal, with variable foci 4
Epilepsy, Familial Focal, with Variable Foci 2 4
Epilepsy, Familial Focal, with Variable Foci 3 2
Epilepsy, familial focal, with variable foci 4 2
Epilepsy, Familial Temporal Lobe, 5 2
Epilepsy, Familial Temporal Lobe, 7 6
Epilepsy, Familial Temporal Lobe, 8 1
Epilepsy, focal, with speech disorder and with or without mental retardation 5
Epilepsy, Hearing Loss, and Mental Retardation Syndrome 3
Epilepsy, Idiopathic Generalized 10 1
Epilepsy, Idiopathic Generalized 8 2
Epilepsy, Idiopathic Generalized 9 2
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 2
Epilepsy, idiopathic generalized, susceptibility to, 14 1
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 2
Epilepsy, Juvenile Myoclonic 5 4
Epilepsy, juvenile myoclonic, susceptibility to, 10 3
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 5
Epilepsy, Myoclonic, Familial Adult, 5 2
Epilepsy, nocturnal frontal lobe, 5 4
Epilepsy, Nocturnal Frontal Lobe, Type 1 4
Epilepsy, Nocturnal Frontal Lobe, Type 3 4
Epilepsy, Nocturnal Frontal Lobe, Type 4 4
Epilepsy, Progressive Myoclonic 3 5
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure 5
Epilepsy, Progressive Myoclonic 6 5
Epilepsy, Progressive Myoclonic 7 2
Epilepsy, Progressive Myoclonic, 10 1
Epilepsy, Progressive Myoclonic, 8 2
Epilepsy, Progressive Myoclonic, 9 4
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp 1
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders 4
Epileptic encephalopathy, childhood-onset 7
Epileptic encephalopathy, early infantile, 1 9
Epileptic Encephalopathy, Early Infantile, 10 4
Epileptic Encephalopathy, Early Infantile, 11 9
Epileptic Encephalopathy, Early Infantile, 12 4
Epileptic Encephalopathy, Early Infantile, 13 8
Epileptic encephalopathy, early infantile, 14 4
Epileptic Encephalopathy, Early Infantile, 15 4
Epileptic Encephalopathy, Early Infantile, 16 6
Epileptic Encephalopathy, Early Infantile, 17 6
Epileptic encephalopathy, early infantile, 18 5
Epileptic Encephalopathy, Early Infantile, 19 5
Epileptic Encephalopathy, Early Infantile, 2 8
Epileptic Encephalopathy, Early Infantile, 21 2
Epileptic Encephalopathy, Early Infantile, 23 2
Epileptic Encephalopathy, Early Infantile, 24 6
Epileptic Encephalopathy, Early Infantile, 25 5
Epileptic Encephalopathy, Early Infantile, 26 5
Epileptic Encephalopathy, Early Infantile, 27 7
Epileptic Encephalopathy, Early Infantile, 28 4
Epileptic Encephalopathy, Early Infantile, 29 1
Epileptic Encephalopathy, Early Infantile, 3 4
Epileptic Encephalopathy, Early Infantile, 31 3
Epileptic Encephalopathy, Early Infantile, 32 5
Epileptic Encephalopathy, Early Infantile, 33 2
Epileptic Encephalopathy, Early Infantile, 34 2
Epileptic Encephalopathy, Early Infantile, 35 2
Epileptic Encephalopathy, Early Infantile, 36 5
Epileptic Encephalopathy, Early Infantile, 37 2
Epileptic Encephalopathy, Early Infantile, 38 2
Epileptic Encephalopathy, Early Infantile, 39 3
Epileptic Encephalopathy, Early Infantile, 4 8
Epileptic Encephalopathy, Early Infantile, 40 2
Epileptic Encephalopathy, Early Infantile, 41 2
Epileptic Encephalopathy, Early Infantile, 42 3
Epileptic Encephalopathy, Early Infantile, 43 5
Epileptic Encephalopathy, Early Infantile, 44 2
Epileptic Encephalopathy, Early Infantile, 45 2
Epileptic Encephalopathy, Early Infantile, 46 2
Epileptic Encephalopathy, Early Infantile, 47 2
Epileptic Encephalopathy, Early Infantile, 48 2
Epileptic Encephalopathy, Early Infantile, 49 2
Epileptic Encephalopathy, Early Infantile, 5 5
Epileptic Encephalopathy, Early Infantile, 50 2
Epileptic Encephalopathy, Early Infantile, 51 2
Epileptic encephalopathy, early infantile, 52 3
Epileptic Encephalopathy, Early Infantile, 53 3
Epileptic Encephalopathy, Early Infantile, 54 4
Epileptic Encephalopathy, Early Infantile, 55 3
Epileptic Encephalopathy, Early Infantile, 56 3
Epileptic Encephalopathy, Early Infantile, 58 2
Epileptic Encephalopathy, Early Infantile, 59 2
Epileptic encephalopathy, early infantile, 60 2
Epileptic encephalopathy, early infantile, 61 1
Epileptic Encephalopathy, Early Infantile, 62 4
Epileptic encephalopathy, early infantile, 63 1
Epileptic encephalopathy, early infantile, 64 1
Epileptic encephalopathy, early infantile, 65 3
Epileptic encephalopathy, early infantile, 67 1
Epileptic encephalopathy, early infantile, 68 1
Epileptic Encephalopathy, Early Infantile, 7 7
Epileptic encephalopathy, early infantile, 73 1
Epileptic encephalopathy, early infantile, 74 1
Epileptic encephalopathy, early infantile, 77 1
Epileptic Encephalopathy, Early Infantile, 8 7
Epileptic encephalopathy, early infantile, 80 1
Epileptic Encephalopathy, Early Infantile, 9 6
Epileptic Encephalopathy, Infantile or Early Childhood, 1 2
Epileptic Encephalopathy, Infantile or Early Childhood, 2 2
Epileptic Encephalopathy, Infantile or Early Childhood, 3 3
Epiphyseal chondrodysplasia, Miura type 3
Epiphyseal dysplasia, multiple, 7 2
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness 8
Episodic Ataxia Type 1 3
Episodic Ataxia Type 2 1
Episodic Kinesigenic Dyskinesia 1 3
Episodic Pain Syndrome, Familial, 2 3
Episodic Pain Syndrome, Familial, 3 3
Epithelial recurrent erosion dystrophy 1
Epstein Syndrome 3
Erythrocyte Lactate Transporter Defect 2
Erythrocytosis, Familial, 2 1
Erythroderma, Ichthyosiform, Congenital Reticular 4
Erythrokeratodermia Variabilis Et Progressiva 4
Erythrokeratodermia variabilis et progressiva 3 1
Erythropoietic Protoporphyria 3
Escobar Syndrome 5
Esophageal Cancer 2
Essential Hypertension 2
Essential Thrombocythemia 1
Essential tremor, hereditary, 5 1
Ethylmalonic Encephalopathy 3
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 2
Even-plus syndrome 2
Exercise intolerance, riboflavin-responsive 1
Exostoses, Multiple, Type I 5
Exostoses, Multiple, Type II 5
Exudative Vitreoretinopathy 2, X-Linked 8
Exudative Vitreoretinopathy 4 5
Exudative Vitreoretinopathy 5 4
Exudative Vitreoretinopathy 6 4
Exudative Vitreoretinopathy 7 5
Fabry's Disease 8
Facial Paresis, Hereditary Congenital, 3 1
Facioscapulohumeral Muscular Dystrophy 2 5
Factor H Deficiency 2
Factor V And Factor VIII, Combined Deficiency Of, 1 4
Factor V And Factor VIII, Combined Deficiency Of, 2 3
Factor V Deficiency 3
Factor VII Deficiency 3
Factor X Deficiency 5
Factor XII Deficiency Disease 2
Factor XIII, A Subunit, Deficiency Of 5
Factor XIII, B Subunit, Deficiency Of 3
Failure Of Tooth Eruption, Primary 1
Fallot Tetralogy 13
Familial Adenomatous Polyposis 3 3
Familial Adenomatous Polyposis 4 2
Familial Amyloid Nephropathy With Urticaria And Deafness 7
Familial Benign Hypercalcemia 4
Familial Benign Pemphigus 1
Familial Cancer Of Breast 22
Familial Cold Autoinflammatory Syndrome 2 4
Familial cold autoinflammatory syndrome 3 2
Familial cold autoinflammatory syndrome 4 2
Familial Cold Urticaria 6
Familial Colorectal Cancer 14
Familial digital arthropathy with brachydactyly 4
Familial Dysautonomia 4
Familial Encephalopathy With Neuroserpin Inclusion Bodies 1
Familial Erythrocytosis, 1 2
Familial Exudative Vitreoretinopathy 6
Familial Gynecomastia, Due To Increased Aromatase Activity 5
Familial Hemiplegic Migraine Type 1 3
Familial Hemiplegic Migraine Type 2 5
Familial Hemiplegic Migraine Type 3 2
Familial Hypercholesterolemia 5
Familial Hypertrophic Cardiomyopathy 1 10
Familial Hypertrophic Cardiomyopathy 10 5
Familial Hypertrophic Cardiomyopathy 11 4
Familial Hypertrophic Cardiomyopathy 12 7
Familial Hypertrophic Cardiomyopathy 13 6
Familial Hypertrophic Cardiomyopathy 14 9
Familial Hypertrophic Cardiomyopathy 15 5
Familial Hypertrophic Cardiomyopathy 16 3
Familial Hypertrophic Cardiomyopathy 18 8
Familial Hypertrophic Cardiomyopathy 2 5
Familial Hypertrophic Cardiomyopathy 20 5
Familial Hypertrophic Cardiomyopathy 3 3
Familial Hypertrophic Cardiomyopathy 4 6
Familial Hypertrophic Cardiomyopathy 6 7
Familial Hypertrophic Cardiomyopathy 7 7
Familial Hypertrophic Cardiomyopathy 8 5
Familial Hypertrophic Cardiomyopathy 9 5
Familial Hypoalphalipoproteinemia 1
Familial Hypobetalipoproteinemia 2
Familial Hypokalemia-Hypomagnesemia 3
Familial Infantile Myasthenia 4
Familial Juvenile Hyperuricemic Nephropathy 2
Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates 4
Familial Mediterranean Fever 5
Familial Mediterranean Fever, Autosomal Dominant 5
Familial Medullary Thyroid Carcinoma 4
Familial Non-Hodgkin Lymphoma 2
Familial Porphyria Cutanea Tarda 3
Familial Renal Hypouricemia 1
Familial Type 5 Hyperlipoproteinemia 1
Familial Visceral Amyloidosis, Ostertag Type 1
Fanconi Anemia, Complementation Group A 6
Fanconi Anemia, Complementation Group B 5
Fanconi Anemia, Complementation Group C 7
Fanconi Anemia, Complementation Group D1 5
Fanconi Anemia, Complementation Group D2 6
Fanconi Anemia, Complementation Group E 6
Fanconi Anemia, Complementation Group F 7
Fanconi Anemia, Complementation Group G 6
Fanconi Anemia, Complementation Group I 5
Fanconi Anemia, Complementation Group J 9
Fanconi Anemia, Complementation Group L 6
Fanconi Anemia, Complementation Group M 2
Fanconi Anemia, Complementation Group N 8
Fanconi Anemia, Complementation Group O 6
Fanconi Anemia, Complementation Group P 7
Fanconi anemia, Complementation Group Q 6
Fanconi Anemia, Complementation Group R 4
Fanconi Anemia, Complementation Group S 4
Fanconi Anemia, Complementation Group T 3
Fanconi Anemia, Complementation Group U 4
Fanconi Anemia, Complementation Group V 3
Fanconi Anemia, Complementation Group W 2
Fanconi Renotubular Syndrome 2 4
Fanconi renotubular syndrome 3 1
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 3
Fanconi-Bickel Syndrome 10
Farber's Lipogranulomatosis 3
Fasting Plasma Glucose Level Quantitative Trait Locus 5 1
Fazio-Londe Disease 3
Febrile seizures, familial, 11 1
Febrile Seizures, Familial, 4 3
Fechtner Syndrome 3
Feingold Syndrome 1 2
Fetal Akinesia Deformation Sequence 8
Fetal Hemoglobin Quantitative Trait Locus 6 4
Fg Syndrome 11
FG Syndrome 2 11
FG Syndrome 4 7
Fibrochondrogenesis 6
Fibrochondrogenesis 2 6
Fibrodysplasia Ossificans Progressiva 2
Fibromatosis, gingival, 5 1
Fibrosis Of Extraocular Muscles, Congenital, 1 1
Fibrosis Of Extraocular Muscles, Congenital, 2 2
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement 3
Fibular Hypoplasia And Complex Brachydactyly 3
Filippi syndrome 2
FILS syndrome 3
Finnish Congenital Nephrotic Syndrome 2
Fish-Eye Disease 3
Fleck Corneal Dystrophy 3
Fleck Retina, Familial Benign 6
Floating-Harbor Syndrome 6
Focal Cortical Dysplasia Of Taylor 2
Focal Dermal Hypoplasia 3
Focal facial dermal dysplasia 3, Setleis type 1
Focal Segmental Glomerulosclerosis 1 3
Focal Segmental Glomerulosclerosis 2 3
Focal Segmental Glomerulosclerosis 3, Susceptibility To 3
Focal Segmental Glomerulosclerosis 4, Susceptibility To 2
Focal Segmental Glomerulosclerosis 5 1
Focal Segmental Glomerulosclerosis 6 1
Focal Segmental Glomerulosclerosis 8 3
Focal Segmental Glomerulosclerosis 9 2
Folate Malabsorption, Hereditary 4
Follicle-Stimulating Hormone Deficiency, Isolated 7
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 4
Foveal Hypoplasia And Presenile Cataract Syndrome 6
Fragile X Syndrome 3
Fragile X Tremor/Ataxia Syndrome 2
Frank Ter Haar Syndrome 6
Fraser Syndrome 10
Fraser Syndrome 2 8
Fraser Syndrome 3 8
Frasier Syndrome 5
Freeman-Sheldon Syndrome 6
Frontometaphyseal Dysplasia 10
Frontometaphyseal Dysplasia 2 2
Frontonasal Dysplasia 3
Frontonasal Dysplasia 2 1
Frontonasal Dysplasia 3 2
Frontotemporal Dementia 6
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 6
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 3
Frontotemporal Dementia, Ubiquitin-Positive 4
Fructose-Biphosphatase Deficiency 3
Fucosidosis 3
Fuhrmann Syndrome 3
Fukuyama Congenital Muscular Dystrophy 11
Fumarase Deficiency 4
Galactosemia 8
Galactosialidosis 7
Galactosylceramide Beta-Galactosidase Deficiency 5
Galloway-Mowat Syndrome 3
Galloway-Mowat Syndrome 2, X-linked 2
Galloway-Mowat Syndrome 3 3
Galloway-Mowat Syndrome 4 2
Galloway-Mowat Syndrome 5 2
Galloway-Mowat syndrome 6 2
Galloway-Mowat syndrome 7 1
Galloway-Mowat syndrome 8 1
Gamma Aminobutyric Acid Transaminase Deficiency 2
Ganglioside Sialidase Deficiency 2
Gangliosidosis GM1 Type 3 3
GAPO Syndrome 1
Gastric Lymphoma 1
Gastrointestinal defects and immunodeficiency syndrome 2
Gastrointestinal Stromal Tumors 3
GATA-1-Related Thrombocytopenia With Dyserythropoiesis 7
Gaucher Disease, Atypical, Due To Saposin C Deficiency 1
Gaucher Disease, Perinatal Lethal 4
Gaucher Disease, Type 1 3
Gaucher Disease, Type II 3
Gaucher Disease, Type III 2
Gaucher Disease, Type IIIc 3
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Geleophysic Dysplasia 4
Geleophysic Dysplasia 2 5
Geleophysic dysplasia 3 1
Generalized Dominant Dystrophic Epidermolysis Bullosa 2
Generalized Epilepsy And Paroxysmal Dyskinesia 2
Generalized Epilepsy With Febrile Seizures Plus, Type 1 6
Generalized epilepsy with febrile seizures plus, type 10 1
Generalized Epilepsy With Febrile Seizures Plus, Type 2 5
Generalized Epilepsy With Febrile Seizures Plus, Type 3 4
Generalized Epilepsy With Febrile Seizures Plus, Type 7 5
Generalized Epilepsy with Febrile Seizures Plus, Type 9 5
Genitopatellar Syndrome 5
Geroderma Osteodysplasticum 4
Ghosal Syndrome 1
Giant Axonal Neuropathy 5
Gilbert Syndrome 1
Gillessen-Kaesbach-Nishimura syndrome 1
Glanzmann's Thrombasthenia 11
Glass Syndrome 4
Glaucoma 1, open angle, F 1
Glaucoma 1, Open Angle, G 3
Glaucoma 1, Open Angle, O 2
Glaucoma 3, Primary Congenital, D 7
Glaucoma 3, primary congenital, E 3
Glaucoma, Congenital 5
Glaucoma, Normal Tension, Susceptibility To 6
Glioma Susceptibility 1 2
Glioma Susceptibility 2 2
Glioma Susceptibility 3 3
Glioma Susceptibility 9 4
Global developmental delay with or without impaired intellectual development 1
Glomerulopathy With Fibronectin Deposits 2 1
Glomerulosclerosis, Focal Segmental, 7 4
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 1
Glucocorticoid deficiency 5 1
Glucocorticoid Resistance 3
Glucocorticoid-Remediable Aldosteronism 2
Glut1 Deficiency Syndrome 1 6
Glut1 Deficiency Syndrome 2 5
Glutamate Formiminotransferase Deficiency 1
Glutamine Deficiency, Congenital 1
Glutaric Aciduria, Type 1 3
Glutaric Aciduria, Type 2 16
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To 1
Gluthathione Synthetase Deficiency 1
Glycerol Kinase Deficiency 3
Glycine Encephalopathy 6
Glycine encephalopathy with normal serum glycine 1
Glycine N-Methyltransferase Deficiency 3
Glycogen Storage Disease 0, Liver 4
Glycogen Storage Disease 0, Muscle 3
Glycogen Storage Disease Of Heart, Lethal Congenital 6
Glycogen Storage Disease Type Ia 3
Glycogen Storage Disease Type Ib 7
Glycogen Storage Disease Type Ic 6
Glycogen Storage Disease Type II 11
Glycogen Storage Disease Type III 6
Glycogen Storage Disease Type IV 8
Glycogen Storage Disease Type IXa1 4
Glycogen Storage Disease Type IXc 3
Glycogen Storage Disease Type IXd 4
Glycogen Storage Disease Type V 5
Glycogen Storage Disease Type VI 3
Glycogen Storage Disease Type VII 5
Glycogen Storage Disease Type X 3
Glycogen Storage Disease Type XI 2
Glycogen Storage Disease Type XII 2
Glycogen Storage Disease Type XIII 2
Glycogen Storage Disease Type XV 3
Glycogen Storage DiseaseType IXb 4
Glycosylphosphatidylinositol biosynthesis defect 11 2
Glycosylphosphatidylinositol biosynthesis defect 15 2
Glycosylphosphatidylinositol biosynthesis defect 16 1
Glycosylphosphatidylinositol biosynthesis defect 17 2
Glycosylphosphatidylinositol biosynthesis defect 18 2
Glycosylphosphatidylinositol biosynthesis defect 21 1
Glycosylphosphatidylinositol Deficiency 2
Gnathodiaphyseal Dysplasia 3
GNE Myopathy 5
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors 4
Goldberg-Shprintzen Megacolon Syndrome 4
Gonadotropin-Independent Familial Sexual Precocity 6
Gorlin Syndrome 6
Gout, HPRT-Related 2
Gracile Bone Dysplasia 4
GRACILE Syndrome 4
Graft-Versus-Host Disease, Susceptibility To 1
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative 5
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II 4
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III 4
Granulomatous Disease, Chronic, X-Linked 5
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial 4
Gray Platelet Syndrome 4
Grebe Syndrome 3
Greenberg Dysplasia 3
Greig Cephalopolysyndactyly Syndrome 5
Griscelli Syndrome Type 1 5
Griscelli Syndrome Type 2 7
Griscelli Syndrome Type 3 2
Groenouw Corneal Dystrophy Type I 2
Growth Hormone Deficiency, Isolated Partial 1
Growth hormone deficiency, isolated, type V 1
Growth Hormone Insensitivity With Immunodeficiency 1
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 2
Gtp Cyclohydrolase I Deficiency 2
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia 5
Haim-Munk Syndrome 1
Hajdu-Cheney Syndrome 7
Hand Foot Uterus Syndrome 5
Harlequin Ichthyosis 5
Hartsfield syndrome 8
Hashimoto Thyroiditis 2
Hawkinsinuria 2
Hay-Wells Syndrome 7
Heart-Hand Syndrome, Slovenian Type 6
Heimler syndrome 1 6
Heimler syndrome 2 5
Heinz Body Anemias 1
Helsmoortel-van der Aa Syndrome 6
Hemangioma, Capillary Infantile 3
Heme Oxygenase 1 Deficiency 1
Hemochromatosis Type 1 8
Hemochromatosis Type 2 2
Hemochromatosis Type 2B 2
Hemochromatosis Type 3 2
Hemochromatosis Type 4 3
Hemochromatosis Type 5 1
Hemoglobin H Disease 3
Hemolytic anemia due to G6PD deficiency 3
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency 1
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency 2
Hemolytic uremic syndrome, atypical, susceptibility to, 2 1
Hemophagocytic Lymphohistiocytosis, Familial, 2 4
Hemophagocytic Lymphohistiocytosis, Familial, 3 4
Hemophagocytic Lymphohistiocytosis, Familial, 4 4
Hemophagocytic lymphohistiocytosis, Familial, 5 5
Hemophilia A, Congenital 2
Hemophilia A, Congenital 3
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 5
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 4
Hennekam lymphangiectasia-lymphedema syndrome 3 1
Hennekam Syndrome 6
Hepatic Adenomas, Familial 2
Hepatic Venoocclusive Disease With Immunodeficiency 1
Hepatitis B Virus, Susceptibility To 1
Hepatitis C Virus, Susceptibility To 1
Hereditary Angioneurotic Edema 3
Hereditary Coproporphyria 5
Hereditary Diffuse Gastric Cancer 7
Hereditary Factor IX Deficiency Disease 3
Hereditary Factor XI Deficiency Disease 3
Hereditary Fructose Intolerance 3
Hereditary Gingival Fibromatosis 2
Hereditary Hemorrhagic Telangiectasia Type 2 4
Hereditary Insensitivity To Pain With Anhidrosis 3
Hereditary Leiomyomatosis And Renal Cell Cancer 5
Hereditary Liability To Pressure Palsies 1
Hereditary Lymphedema Type 1C 2
Hereditary Lymphedema Type I 5
Hereditary Mixed Polyposis Syndrome 2 4
Hereditary Myopathy With Early Respiratory Failure 5
Hereditary Neutrophilia 2
Hereditary Nonpolyposis Colorectal Cancer Type 4 11
Hereditary Nonpolyposis Colorectal Cancer Type 5 13
Hereditary Nonpolyposis Colorectal Cancer Type 7 3
Hereditary Nonpolyposis Colorectal Cancer Type 8 14
Hereditary Pyropoikilocytosis 2
Hereditary Sideroblastic Anemia 2
Hereditary Spherocytosis 3
Hermansky-Pudlak Syndrome 1 8
Hermansky-Pudlak Syndrome 10 4
Hermansky-Pudlak Syndrome 2 10
Hermansky-Pudlak Syndrome 3 8
Hermansky-Pudlak Syndrome 4 8
Hermansky-Pudlak Syndrome 5 7
Hermansky-Pudlak Syndrome 6 8
Hermansky-Pudlak Syndrome 7 8
Hermansky-Pudlak Syndrome 8 8
Hermansky-Pudlak Syndrome 9 6
Herpes Simplex Encephalitis 1 1
Herpes Simplex Encephalitis 2 1
Heterotaxy, Visceral, 2, Autosomal 1
Heterotaxy, Visceral, 4, Autosomal 4
Heterotaxy, Visceral, 5 5
Heterotaxy, visceral, 6, autosomal recessive 1
Heterotaxy, Visceral, 7, Autosomal 1
Heterotaxy, Visceral, X-Linked 3
Heterotopia, Periventricular, Autosomal Recessive 6
Heterotopia, Periventricular, Ehlers-Danlos Variant 1
Heyn-Sproul-Jackson syndrome 2
Hidradenitis Suppurativa, Familial 1
Hidrotic Ectodermal Dysplasia Syndrome 3
Hip dysplasia, Beukes type 1
Hirschsprung Disease 1 6
Hirschsprung Disease 2 7
Hirschsprung Disease 3 2
Hirschsprung Disease 4 8
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction 3
Histiocytosis-lymphadenopathy plus syndrome 3
Holoprosencephaly 11 5
Holoprosencephaly 2 4
Holoprosencephaly 3 3
Holoprosencephaly 4 5
Holoprosencephaly 5 4
Holoprosencephaly 7 5
Holoprosencephaly 9 7
Holoprosencephaly Sequence 2
Holt-Oram Syndrome 4
Homocystinuria Due To Cbs Deficiency 8
Homocystinuria due to MTHFR Deficiency 6
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblE Complementation Type 4
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type 4
Humerofemoral hypoplasia with radiotibial ray deficiency 1
Huntington Disease 1
Hurler Syndrome 3
Hutchinson-Gilford Syndrome 7
Hyaline Fibromatosis Syndrome 2
Hydrocephalus, Nonsyndromic, 1 3
Hydrocephalus, Nonsyndromic, 3 2
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 4
Hydrolethalus Syndrome 2 5
Hydrops, lactic acidosis, and sideroblastic anemia 1
Hydroxykynureninuria 1
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 1
Hyperaldosteronism, familial, type II 2
Hyperaldosteronism, Familial, Type III 2
Hyperaldosteronism, Familial, Type IV 2
Hyperalphalipoproteinemia 1
Hyperammonemia due to carbonic anhydrase VA deficiency 1
Hyperammonemia, Type III 3
Hypercalcemia, infantile, 2 2
Hypercalciuria, Absorptive, 2 2
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 1
Hypercholanemia, Familial 3
Hypercholesterolemia, Autosomal Dominant, 3 3
Hypercholesterolemia, Autosomal Dominant, Type B 4
Hypercholesterolemia, Autosomal Recessive 3
Hyperekplexia 4 1
Hyperekplexia Hereditary 1
Hyperferritinemia Cataract Syndrome 4
Hyperimmunoglobulin D With Periodic Fever 7
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 5
Hyperimmunoglobulin E Syndrome 7
Hyperinsulinemic Hypoglycemia, Familial 3 2
Hyperinsulinemic Hypoglycemia, Familial 6 4
Hyperinsulinemic Hypoglycemia, Familial, 1 3
Hyperinsulinemic Hypoglycemia, Familial, 2 3
Hyperinsulinemic Hypoglycemia, Familial, 4 5
Hyperinsulinemic Hypoglycemia, Familial, 7 3
Hyperkalemic Periodic Paralysis; HYPP 4
Hyperlipidemia, Familial Combined 2
Hyperlipoproteinemia, Type 1D 1
Hyperlipoproteinemia, Type I 3
Hyperlipoproteinemia, Type III 1
Hypermanganesemia with dystonia 1 1
Hypermanganesemia with dystonia 2 1
Hypermethioninemia Due To Adenosine Kinase Deficiency 2
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency 4
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 2
Hyperparathyroidism 1 3
Hyperparathyroidism 2 3
Hyperparathyroidism 4 1
Hyperparathyroidism, Neonatal Severe Primary 3
Hyperparathyroidism, transient neonatal 2
Hyperphenylalaninemia, Mild, Non-BH4-Deficient 3
Hyperphosphatasemia Tarda 1
Hyperphosphatasemia With Bone Disease 2
Hyperphosphatasia With Mental Retardation 5
Hyperphosphatasia with mental retardation syndrome 2 6
Hyperphosphatasia with mental retardation syndrome 3 1
Hyperphosphatasia with mental retardation syndrome 4 1
Hyperphosphatasia with Mental Retardation Syndrome 6 2
Hyperpigmentation with or without Hypopigmentation 3
Hyperproinsulinemia 1
Hyperprolactinemia 2
Hypertelorism, Teebi type 1
Hypertension and Brachydactyly Syndrome 2
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 2
Hyperthyroidism, Familial Gestational 3
Hyperthyroidism, Nonautoimmune 3
Hypertrichotic Osteochondrodysplasia 4
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 1
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis 3
Hyperuricemic Nephropathy, Familial Juvenile, 2 1
Hyperuricemic Nephropathy, Familial Juvenile, 4 1
Hypobetalipoproteinemia 3
Hypobetalipoproteinemia, Familial, 2 1
Hypocalcemia, autosomal dominant 6
Hypocalcemia, autosomal dominant 2 4
Hypocalciuric Hypercalcemia, Familial, Type III 5
Hypocalciuric hypercalcemia, type II 4
Hypochondroplasia 9
Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica 4
Hypogonadotropic Hypogonadism 10 with or without Anosmia 6
Hypogonadotropic Hypogonadism 11 with or without Anosmia 7
Hypogonadotropic Hypogonadism 12 with or without Anosmia 7
Hypogonadotropic Hypogonadism 13 with or without Anosmia 7
Hypogonadotropic Hypogonadism 14 with or without Anosmia 8
Hypogonadotropic Hypogonadism 15 with or without Anosmia 6
Hypogonadotropic Hypogonadism 16 with or without Anosmia 8
Hypogonadotropic Hypogonadism 17 with or without Anosmia 5
Hypogonadotropic Hypogonadism 18 with or without Anosmia 8
Hypogonadotropic Hypogonadism 19 with or without Anosmia 4
Hypogonadotropic Hypogonadism 20 with or without Anosmia 5
Hypogonadotropic Hypogonadism 21 with Anosmia 4
Hypogonadotropic Hypogonadism 22, with or without Anosmia 7
Hypogonadotropic Hypogonadism 7 with or without Anosmia 10
Hypogonadotropic Hypogonadism 8 with or without Anosmia 7
Hypogonadotropic Hypogonadism 9 with or without Anosmia 7
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency 2
Hypohidrotic X-Linked Ectodermal Dysplasia 3
Hypokalemic Periodic Paralysis 3
Hypokalemic Periodic Paralysis, Type 2 3
Hypomagnesemia 1, Intestinal 1
Hypomagnesemia 2, Renal 3
Hypomagnesemia 4, Renal 1
Hypomagnesemia 5, Renal, With Ocular Involvement 5
Hypomagnesemia 6, Renal 1
Hypomagnesemia, seizures, and mental retardation 2 1
Hypomyelinating neuropathy, congenital, 3 2
Hypomyelination And Congenital Cataract 5
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 4
Hypoparathyroidism Retardation Dysmorphism Syndrome 4
Hypoparathyroidism, Familial Isolated 5
Hypoparathyroidism, X-linked 1
Hypophosphatemic Rickets, Autosomal Dominant 4
Hypophosphatemic Rickets, Autosomal Recessive, 2 3
Hypophosphatemic Rickets, X-Linked Dominant 5
Hypophosphatemic Rickets, X-Linked Recessive 3
Hypophosphatemic Vitamin D Refractory Rickets 3
Hypopigmentation, organomegaly, and delayed myelination and development 1
Hypoplastic Left Heart Syndrome 1
Hypoplastic Left Heart Syndrome 2 4
Hypoplastic or Aplastic Tibia with Polydactyly 1
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 2
Hypoproteinemia, Hypercatabolic 1
Hypospadias 1, X-Linked 2
Hypospadias 2, X-Linked 5
Hypospadias 3, Autosomal 2
Hypothalamic Hamartomas 2
Hypothryoidism, Congenital, Nongoitrous 4 3
Hypothyroidism, Central, and Testicular Enlargement 3
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis 3
Hypothyroidism, congenital, nongoitrous, 1 2
Hypothyroidism, Congenital, Nongoitrous, 5 4
Hypothyroidism, Congenital, Nongoitrous, 6 3
Hypotonia, ataxia, and delayed development syndrome 1
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 4
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 5
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 2
Hypotonia-Cystinuria Syndrome 1
Hypotrichosis-Lymphedema-Telangiectasia Syndrome 3
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
I Cell Disease 4
Ichthyosiform Erythroderma, Nonbullous Congenital 3
Ichthyosis Bullosa Of Siemens 4
Ichthyosis Follicularis Atrichia Photophobia Syndrome 7
Ichthyosis Histrix, Curth-Macklin Type 3
Ichthyosis Lamellar 3 3
Ichthyosis Prematurity Syndrome 2
Ichthyosis Vulgaris 1
Ichthyosis, congenital, autosomal recessive 10 4
Ichthyosis, Congenital, Autosomal Recessive 11 2
Ichthyosis, congenital, autosomal recessive 3 3
Ichthyosis, congenital, autosomal recessive 4A 5
Ichthyosis, Congenital, Autosomal Recessive 8 2
Ichthyosis, Congenital, Autosomal Recessive 9 2
Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 3
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 5
Ichthyosis, Hystrix-Like, With Deafness 1
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis 2
Idiopathic Fibrosing Alveolitis, Chronic Form 3
Idiopathic Hypercalcemia Of Infancy 1
Idiopathic Hypereosinophilic Syndrome 1
IgA nephropathy, susceptibility to, 3 1
IL12RB1 Deficiency 2
IMAGE Syndrome 5
IMAGE-I syndrome 2
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 1
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 4
Immunodeficiency 11A 3
Immunodeficiency 11B with atopic dermatitis 3
Immunodeficiency 12 2
Immunodeficiency 13 3
Immunodeficiency 14 7
Immunodeficiency 15 1
Immunodeficiency 16 1
Immunodeficiency 17, CD3 gamma deficient 2
Immunodeficiency 18 1
Immunodeficiency 19 1
Immunodeficiency 22 1
Immunodeficiency 23 3
Immunodeficiency 24 1
Immunodeficiency 26, with or without neurologic abnormalities 1
Immunodeficiency 27B, mycobacteriosis, AD 1
Immunodeficiency 28, mycobacteriosis 1
Immunodeficiency 29, mycobacteriosis 1
Immunodeficiency 31A, mycobacteriosis, autosomal dominant 2
Immunodeficiency 32A, mycobacteriosis, autosomal dominant 1
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 1
Immunodeficiency 36 5
Immunodeficiency 37 2
Immunodeficiency 38 1
Immunodeficiency 39 1
Immunodeficiency 40 1
Immunodeficiency 42 1
Immunodeficiency 44 1
Immunodeficiency 45 1
Immunodeficiency 46 1
Immunodeficiency 48 2
Immunodeficiency 49 1
Immunodeficiency 50 1
Immunodeficiency 52 1
Immunodeficiency 53 1
Immunodeficiency 54 1
Immunodeficiency 55 2
Immunodeficiency 56 1
Immunodeficiency 58 1
Immunodeficiency 7, TCR-alpha/beta deficient 1
Immunodeficiency 8 1
Immunodeficiency and Hepatopathy with Cutis Laxa 6
Immunodeficiency Due To Defect In Cd3-Zeta 1
Immunodeficiency Due To Defect In Mapbp-Interacting Protein 2
Immunodeficiency Due To Ficolin 3 Deficiency 1
Immunodeficiency With Hyper Igm Type 1 5
Immunodeficiency With Hyper IgM Type 2 5
Immunodeficiency With Hyper IgM Type 3 2
Immunodeficiency With Hyper IgM Type 5 3
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 3
Immunodeficiency, Common Variable, 1 4
Immunodeficiency, common variable, 10 6
Immunodeficiency, common variable, 11 4
Immunodeficiency, common variable, 12 4
Immunodeficiency, common variable, 13 4
Immunodeficiency, common variable, 14 3
Immunodeficiency, Common Variable, 3 3
Immunodeficiency, Common Variable, 4 3
Immunodeficiency, Common Variable, 5 3
Immunodeficiency, Common Variable, 6 3
Immunodeficiency, common variable, 7 3
Immunodeficiency, Common Variable, 8, with Autoimmunity 5
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia 4
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked 4
Immunoglobulin A Deficiency 2 3
Immunoglobulin Kappa Light Chain Deficiency 1
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 4
Inclusion Body Myopathy 3 3
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 6
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 2
Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 2
Incontinentia Pigmenti 4
Indifference To Pain, Congenital, Autosomal Recessive 5
Infantile cerebellar-retinal degeneration 6
Infantile Gm1 Gangliosidosis 5
Infantile Hypophosphatasia 6
Infantile Liver Failure Syndrome 1 2
Infantile Liver Failure Syndrome 2 6
Infantile Nephronophthisis 6
Infantile Neuroaxonal Dystrophy 4
Infantile Parkinsonism-Dystonia 4
Infantile-Onset Ascending Hereditary Spastic Paralysis 1
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations 2
Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA 3
Inflammatory Bowel Disease 1 3
Inflammatory Bowel Disease 25, Autosomal Recessive 2
Inflammatory Bowel Disease 28, Autosomal Recessive 2
Inflammatory bowel disease, immunodeficiency, and encephalopathy 2
Inflammatory Skin And Bowel Disease, Neonatal 2
Inflammatory skin and bowel disease, neonatal, 2 2
Insulin-Like Growth Factor 1 Resistance To 4
Insulin-Like Growth Factor I Deficiency 1
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2
Intellectual developmental disorder with cardiac defects and dysmorphic facies 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 1
Intellectual developmental disorder with hypertelorism and distinctive facies 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 1
Intellectual developmental disorder with severe speech and ambulation defects 2
Intellectual developmental disorder, autosomal recessive 71 1
Interleukin 2 Receptor, Alpha, Deficiency Of 4
Interleukin 36 Receptor Antagonist Deficiency 4
Interstitial Lung and Liver Disease 2
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 6
Intervertebral Disc Disorder 4
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 6
Intrinsic Factor Deficiency 1
Invasive Pneumococcal Disease, Recurrent Isolated, 1 1
Invasive Pneumococcal Disease, Recurrent Isolated, 2 2
IRAK4 Deficiency 3
Iridogoniodysgenesis Type1 8
Iridogoniodysgenesis, Dominant Type 9
Isolated Lutropin Deficiency 4
Isolated X-Linked Adrenal Hypoplasia Congenita 7
Isovaleryl-CoA Dehydrogenase Deficiency 3
Ivic Syndrome 2
Jaberi-Elahi syndrome 2
Jackson-Weiss Syndrome 9
Jalili Syndrome 6
Jawad syndrome 2
Jensen Syndrome 2
Jervell And Lange-Nielsen Syndrome 2 4
Jervell And Lange-Nielson Syndrome 4
Johanson-Blizzard Syndrome 7
Joint laxity, short stature, and myopia 1
Joubert Syndrome 7
Joubert Syndrome 1 6
Joubert Syndrome 10 9
Joubert Syndrome 13 4
Joubert syndrome 14 7
Joubert syndrome 15 6
Joubert syndrome 16 6
Joubert syndrome 18 6
Joubert syndrome 19 4
Joubert Syndrome 2 7
Joubert syndrome 20 4
Joubert Syndrome 21 6
Joubert Syndrome 22 4
Joubert Syndrome 23 4
Joubert Syndrome 24 4
Joubert Syndrome 25 1
Joubert Syndrome 26 1
Joubert Syndrome 27 3
Joubert Syndrome 28 4
Joubert Syndrome 3 6
Joubert Syndrome 30 2
Joubert Syndrome 31 2
Joubert Syndrome 32 2
Joubert Syndrome 33 1
Joubert Syndrome 4 6
Joubert Syndrome 5 9
Joubert Syndrome 6 8
Joubert Syndrome 7 10
Joubert Syndrome 8 7
Joubert Syndrome 9 9
Junctional Epidermolysis Bullosa 6
Juvenile Amyotrophic Lateral Sclerosis 2
Juvenile GM1 Gangliosidosis 3
Juvenile Macular Degeneration And Hypotrichosis 3
Juvenile Myelomonocytic Leukemia 5
Juvenile Myoclonic Epilepsy 1
Juvenile Nephropathic Cystinosis 2
Juvenile Polyposis Syndrome 5
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome 6
Juvenile Primary Lateral Sclerosis 2
Juvenile-Onset Dystonia 2
Kabuki Syndrome 1 11
Kabuki Syndrome 2 10
Kahrizi syndrome 3
Kallmann Syndrome 1 10
Kallmann Syndrome 2 12
Kallmann Syndrome 3 9
Kallmann Syndrome 4 7
Kallmann Syndrome 5 13
Kallmann Syndrome 6 11
Karyomegalic Tubulointerstitial Nephritis 1
Kaufman oculocerebrofacial syndrome 1
KBG Syndrome 10
Keipert syndrome 2
Kenny-Caffey Syndrome Type 1 5
Kenny-Caffey Syndrome Type 2 6
Keppen-Lubinsky syndrome 3
Keratitis, Hereditary 3
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 2
Keratoconus 1 4
Keratoderma Palmoplantar Deafness 3
Keratoendothelitis fugax hereditaria 3
Keratosis Follicularis Spinulosa Decalvans 1
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma 3
Keratosis Palmoplantaris Striata 3 2
Keratosis Palmoplantaris Striata II 3
Keratosis, Seborrheic 1
Keutel Syndrome 2
Khan-Khan-Katsanis syndrome 1
Kindler's Syndrome 4
Klein-Waardenberg's Syndrome 6
Klippel-Feil Syndrome 1, Autosomal Dominant 6
Klippel-Feil syndrome 2, autosomal recessive 4
Klippel-Feil Syndrome 3, Autosomal Dominant 4
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 4
Kniest Dysplasia 9
Knobloch Syndrome 1 9
Knuckle Pads, Deafness And Leukonychia Syndrome 2
Kohlschutter-Tonz syndrome 5
Koolen-De Vries Syndrome 3
Kosaki overgrowth syndrome 3
Krabbe Disease Atypical Due To Saposin A Deficiency 2
L-2-Hydroxyglutaric Aciduria 5
Lacrimoauriculodentodigital Syndrome 14
Lafora Disease 6
Langer Mesomelic Dysplasia Syndrome 2
Laron-Type Isolated Somatotropin Defect 2
Larsen Syndrome, Dominant Type 6
Laryngoonychocutaneous Syndrome 3
Late-Onset Retinal Degeneration 5
Lateral meningocele syndrome 1
Lathosterolosis 2
Lattice Corneal Dystrophy Type 3A 2
Lattice Corneal Dystrophy Type I 2
Lattice Corneal Dystrophy Type III 2
Laurence-Moon syndrome 1
Laurin-Sandrow Syndrome 1
Leber Congenital Amaurosis 1 7
Leber Congenital Amaurosis 10 8
Leber Congenital Amaurosis 11 4
Leber Congenital Amaurosis 12 6
Leber Congenital Amaurosis 13 8
Leber Congenital Amaurosis 14 9
Leber Congenital Amaurosis 15 4
Leber Congenital Amaurosis 16 3
Leber Congenital Amaurosis 17 4
Leber Congenital Amaurosis 2 4
Leber Congenital Amaurosis 3 6
Leber Congenital Amaurosis 4 8
Leber Congenital Amaurosis 5 6
Leber Congenital Amaurosis 6 8
Leber Congenital Amaurosis 7 7
Leber Congenital Amaurosis 8 4
Leber Congenital Amaurosis 9 3
Leber congenital amaurosis with early-onset deafness 1
Left Ventricular Noncompaction 1 5
Left ventricular noncompaction 10 6
Left Ventricular Noncompaction 7 3
Left Ventricular Noncompaction 8 3
Legg-Calve-Perthes Disease 8
Legius Syndrome 2
Leigh Syndrome 20
Leigh Syndrome, French Canadian Type 4
Leiner Disease 1
Leiomyoma, Uterine 1
Lenz Microphthalmia Syndrome 5
Lenz-Majewski Hyperostotic Dwarfism 5
LEOPARD Syndrome 12
LEOPARD Syndrome 2 5
LEOPARD Syndrome 3 6
Leprosy 2 2
Leri Weill Dyschondrosteosis 2
Lesch-Lyhan Syndrome 3
Lethal Arthrogryposis With Anterior Horn Cell Disease 4
Lethal Congenital Contracture Syndrome 1 5
Lethal congenital contracture syndrome 10 3
Lethal congenital contracture syndrome 11 2
Lethal congenital contracture syndrome 4 1
Lethal Congenital Contracture Syndrome 5 3
Lethal congenital contracture syndrome 7 2
Lethal congenital contracture syndrome 8 1
Lethal Multiple Pterygium Syndrome 10
Leukemia, acute lymphoblastic, susceptibility to, 3 1
Leukocyte Adhesion Deficiency Type 1 2
Leukocyte Adhesion Deficiency, Type III 1
Leukodystrophy and acquired microcephaly with or without dystonia 1
Leukodystrophy, Hypomyelinating 3 2
Leukodystrophy, hypomyelinating, 10 1
Leukodystrophy, Hypomyelinating, 11 3
Leukodystrophy, hypomyelinating, 12 1
Leukodystrophy, hypomyelinating, 13 1
Leukodystrophy, hypomyelinating, 14 2
Leukodystrophy, hypomyelinating, 15 2
Leukodystrophy, hypomyelinating, 16 1
Leukodystrophy, hypomyelinating, 17 2
Leukodystrophy, hypomyelinating, 18 1
Leukodystrophy, Hypomyelinating, 2 3
Leukodystrophy, Hypomyelinating, 4 2
Leukodystrophy, Hypomyelinating, 6 4
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism 3
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism 3
Leukodystrophy, Hypomyelinating, 9 1
Leukoencephalopathy with Ataxia 3
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation 3
Leukoencephalopathy with Dystonia and Motor Neuropathy 3
Leukoencephalopathy With Vanishing White Matter 14
Leukoencephalopathy, Cystic, Without Megalencephaly 1
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 5
Leukoencephalopathy, Progressive, with Ovarian Failure 4
Lewy Body Dementia 4
Leydig Cell Hypoplasia, Type I 2
Li-Fraumeni Syndrome 17
Li-Fraumeni Syndrome 2 5
Lichtenstein-Knorr syndrome 1
Liddle Syndrome 4
Liebenberg Syndrome 3
Lig4 Syndrome 5
Limb-Girdle Muscular Dystrophy, Type 1A 5
Limb-Girdle Muscular Dystrophy, Type 1B 6
Limb-Girdle Muscular Dystrophy, Type 1F 4
Limb-Girdle Muscular Dystrophy, Type 2A 4
Limb-Girdle Muscular Dystrophy, Type 2B 6
Limb-Girdle Muscular Dystrophy, Type 2D 5
Limb-Girdle Muscular Dystrophy, Type 2E 4
Limb-Girdle Muscular Dystrophy, Type 2F 4
Limb-Girdle Muscular Dystrophy, Type 2G 7
Limb-Girdle Muscular Dystrophy, Type 2H 4
Limb-Girdle Muscular Dystrophy, Type 2Y 3
Limb-Mammary Syndrome 5
Linear Skin Defects with Multiple Congenital Anomalies 2 2
Lipase Deficiency Combined 1
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 3
Lipodystrophy, Congenital Generalized, Type 3 4
Lipodystrophy, Congenital Generalized, Type 4 5
Lipodystrophy, Familial Partial, Type 2 7
Lipodystrophy, Familial Partial, Type 3 4
Lipodystrophy, Familial Partial, Type 4 2
Lipodystrophy, familial partial, type 5 2
Lipodystrophy, familial partial, type 6 2
Lipoyltransferase 1 Deficiency 2
Lissencephaly 1 6
Lissencephaly 2 5
Lissencephaly 3 5
Lissencephaly 4 3
Lissencephaly 5 3
Lissencephaly 6, with microcephaly 5
Lissencephaly 8 2
Lissencephaly 9 with complex brainstem malformation 2
Liver Cancer 5
Liver Failure Acute Infantile 2
Loeys-Dietz Syndrome 1 7
Loeys-Dietz Syndrome 2 11
Loeys-Dietz Syndrome 3 9
Loeys-Dietz Syndrome 4 8
Loeys-Dietz Syndrome 5 8
Long QT Syndrome 1 8
Long QT Syndrome 10 6
Long QT Syndrome 11 7
Long QT Syndrome 12 7
Long QT Syndrome 13 5
Long QT Syndrome 14 6
Long QT Syndrome 15 4
Long QT Syndrome 2 7
Long QT Syndrome 3 6
Long QT Syndrome 4 8
Long QT Syndrome 5 7
Long QT Syndrome 6 7
Long QT Syndrome 9 8
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 8
Lowe Syndrome 9
Lujan-Fryns Syndrome 10
Lung Cancer 11
Lung disease, immunodeficiency, and chromosome breakage syndrome 1
Luscan-Lumish Syndrome 5
Lymphatic malformation 7 2
Lymphedema, Hereditary, ID 1
Lymphedema, Hereditary, III 4
Lymphedema, Primary, With Myelodysplasia 5
Lymphoproliferative Syndrome 2 2
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 3
Lymphoproliferative Syndrome, X-Linked, 1 8
Lymphoproliferative Syndrome, X-Linked, 2 7
Lynch Syndrome I 14
Lynch Syndrome II 12
Lysinuric Protein Intolerance 4
Lysosomal Acid Lipase Deficiency 4
Macrocephaly, acquired, with impaired intellectual development 2
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis 5
Macrocephaly, dysmorphic facies, and psychomotor retardation 1
Macrocephaly/Autism Syndrome 5
Macrocephaly/megalencephaly syndrome, autosomal recessive 1
Macrothrombocytopenia And Progressive Sensorineural Deafness 2
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 3
Macular Corneal Dystrophy Type I 5
Macular degeneration, age-related, 14, reduced risk of 2
Macular Degeneration, Age-Related, 2 3
Macular Degeneration, Early-Onset 1
Macular Degeneration, X-Linked Atrophic 6
Macular Dystrophy with Central Cone Involvement 3
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 3
Macular dystrophy, patterned, 3 1
Macular Dystrophy, Retinal, 2 3
Macular Dystrophy, Vitelliform, 4 4
Macular Dystrophy, Vitelliform, 5 2
Macular Dystrophy, Vitelliform, Adult-Onset 5
Majeed Syndrome 4
Malaria, Susceptibility To Malaria, Resistance To, Included 2
Malignant Hyperthermia 7
Malignant Hyperthermia Susceptibility Type 5 4
Malignant Mesothelioma 5
Malonyl-CoA Decarboxylase Deficiency 6
Malouf Syndrome 10
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 2
Mandibuloacral Dysplasia With Type A Lipodystrophy 6
Mandibuloacral Dysplasia With Type B Lipodystrophy 4
Mandibulofacial dysostosis with alopecia 1
Mandibulofacial dysostosis, Guion-Almeida type 6
Manitoba Oculotrichoanal Syndrome 6
Maple Syrup Urine Disease 5
Marden Walker Like Syndrome 1
Marden-Walker Syndrome 2
Marfan lipodystrophy syndrome 5
Marfan Syndrome 12
Marinesco-Sjogren Syndrome 8
Marshall Syndrome 12
Marshall-Smith Syndrome 3
Martsolf Syndrome 5
MASA Syndrome 5
Masp2 Deficiency 1
Mass Syndrome 6
Mast Syndrome 3
Maturity-Onset Diabetes Of The Young, Type 1 6
Maturity-Onset Diabetes Of The Young, Type 10 3
Maturity-Onset Diabetes Of The Young, Type 11 3
Maturity-Onset Diabetes Of The Young, Type 14 2
Maturity-Onset Diabetes Of The Young, Type 2 2
Maturity-Onset Diabetes Of The Young, Type 3 5
Maturity-Onset Diabetes Of The Young, Type 4 4
Maturity-Onset Diabetes Of The Young, Type 5 10
Maturity-Onset Diabetes Of The Young, Type 6 2
Maturity-Onset Diabetes Of The Young, Type 7 2
Maturity-Onset Diabetes Of The Young, Type 9 3
May-Hegglin Anomaly 8
Mckusick Kaufman Syndrome 5
McLeod Syndrome 1
Meacham Syndrome 3
Meckel Syndrome 1 7
Meckel Syndrome 10 4
Meckel syndrome 11 3
Meckel Syndrome 12 3
Meckel Syndrome 13 2
Meckel Syndrome 2 6
Meckel Syndrome 3 7
Meckel Syndrome 4 7
Meckel Syndrome 5 9
Meckel Syndrome 6 7
Meckel Syndrome 7 4
Meckel Syndrome 8 6
Meckel Syndrome 9 5
Meconium ileus 2
MECP2 Duplication Syndrome 3
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 6
MEDNIK Syndrome 3
Medullary Cystic Kidney Disease 1 2
Medullary Cystic Kidney Disease 2 2
Medulloblastoma 7
Meesmann Corneal Dystrophy 4
Meester-Loeys syndrome 2
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 2
Megalencephalic Leukoencephalopathy With Subcortical Cysts 5
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A 5
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation 5
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 4
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 4
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 4
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 4
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency 1
Megaloblastic Anemia Due To Inborn Errors Of Metabolism 2
Megalocornea 1, X-linked 1
MEHMO Syndrome 1
Meier-Gorlin Syndrome 1 4
Meier-Gorlin Syndrome 2 4
Meier-Gorlin Syndrome 3 4
Meier-Gorlin Syndrome 4 5
Meier-Gorlin Syndrome 5 4
Meier-Gorlin syndrome 6 1
Meier-Gorlin syndrome 7 1
Melanoma Astrocytoma Syndrome 2
Melanoma, Cutaneous Malignant 2 4
Melanoma, Cutaneous Malignant 3 5
Melanoma, Cutaneous Malignant, 9 5
Melanoma, Cutaneous Malignant, Susceptibility to, 10 4
Melanoma, cutaneous malignant, susceptibility to, 8 6
Melanoma-Pancreatic Cancer Syndrome 3
Melnick-Needles Syndrome 8
MEND Syndrome 4
Meningioma, Familial 7
Menke-Hennekam syndrome 1 1
Menke-Hennekam syndrome 2 2
Menkes Kinky-Hair Syndrome 6
Mental Retardation 105 1
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 4
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 7
Mental Retardation With Language Impairment And Autistic Features 5
Mental Retardation, Autosomal Dominant 1 8
Mental Retardation, Autosomal Dominant 13; MRD13 6
Mental Retardation, Autosomal Dominant 18 1
Mental Retardation, Autosomal dominant 19 4
Mental Retardation, Autosomal Dominant 21 3
Mental Retardation, Autosomal Dominant 23 5
Mental Retardation, Autosomal Dominant 24 3
Mental Retardation, Autosomal Dominant 26 2
Mental Retardation, Autosomal Dominant 29 5
Mental Retardation, Autosomal Dominant 3 1
Mental Retardation, Autosomal Dominant 30 2
Mental Retardation, Autosomal Dominant 31 5
Mental retardation, autosomal dominant 32 2
Mental retardation, autosomal dominant 35 2
Mental Retardation, Autosomal Dominant 36 2
Mental retardation, autosomal dominant 38 1
Mental Retardation, Autosomal Dominant 39 4
Mental Retardation, Autosomal Dominant 4 1
Mental retardation, autosomal dominant 40 2
Mental Retardation, Autosomal Dominant 41 3
Mental Retardation, Autosomal Dominant 42 2
Mental Retardation, Autosomal Dominant 43 3
Mental Retardation, Autosomal Dominant 44 3
Mental retardation, autosomal dominant 45 1
Mental retardation, autosomal dominant 47 1
Mental retardation, autosomal dominant 48 1
Mental Retardation, Autosomal Dominant 49 1
Mental Retardation, Autosomal Dominant 5 4
Mental Retardation, Autosomal Dominant 50 2
Mental Retardation, Autosomal Dominant 51 2
Mental Retardation, Autosomal Dominant 52 3
Mental retardation, autosomal dominant 54 1
Mental Retardation, Autosomal Dominant 55, with Seizures 2
Mental Retardation, Autosomal Dominant 56 2
Mental retardation, autosomal dominant 57 1
Mental Retardation, Autosomal Dominant 6 6
Mental Retardation, Autosomal Dominant 7 5
Mental Retardation, Autosomal Dominant 8 4
Mental Retardation, Autosomal Dominant 9 4
Mental Retardation, Autosomal Dominant, 27 5
Mental Retardation, Autosomal Recessive 1 1
Mental Retardation, Autosomal Recessive 12 2
Mental Retardation, Autosomal Recessive 13 3
Mental Retardation, Autosomal Recessive 14 1
Mental Retardation, Autosomal Recessive 15 2
Mental Retardation, Autosomal Recessive 18 1
Mental Retardation, Autosomal Recessive 2 3
Mental Retardation, Autosomal Recessive 3 2
Mental retardation, autosomal recessive 34, with variant lissencephaly 1
Mental Retardation, Autosomal Recessive 36 1
Mental retardation, autosomal recessive 41 2
Mental retardation, autosomal recessive 42 1
Mental Retardation, Autosomal Recessive 43 1
Mental Retardation, Autosomal Recessive 44 2
Mental Retardation, Autosomal Recessive 46 2
Mental Retardation, Autosomal Recessive 47 2
Mental retardation, autosomal recessive 5 1
Mental Retardation, Autosomal Recessive 53 4
Mental Retardation, Autosomal Recessive 56 1
Mental Retardation, Autosomal Recessive 58 1
Mental Retardation, Autosomal Recessive 6 2
Mental retardation, autosomal recessive 66 1
Mental Retardation, Autosomal Recessive 7 3
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations 9
Mental Retardation, X-Linked 1/78 7
Mental Retardation, X-linked 100 1
Mental Retardation, X-linked 101 2
Mental Retardation, X-Linked 102 8
Mental Retardation, X-linked 103 1
Mental Retardation, X-linked 104 2
Mental retardation, X-linked 106 1
Mental retardation, X-linked 107 1
Mental Retardation, X-linked 12/35 1
Mental Retardation, X-Linked 19 4
Mental Retardation, X-Linked 21 5
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) 5
Mental Retardation, X-Linked 30 5
Mental Retardation, X-Linked 41 3
Mental Retardation, X-Linked 46 1
Mental Retardation, X-linked 49 5
Mental Retardation, X-Linked 58 2
Mental Retardation, X-linked 61 1
Mental Retardation, X-Linked 63 4
Mental Retardation, X-Linked 72 6
Mental Retardation, X-Linked 9 2
Mental Retardation, X-Linked 90 5
Mental Retardation, X-Linked 93 3
Mental Retardation, X-Linked 96 1
Mental Retardation, X-Linked 97 2
Mental Retardation, X-linked 98 5
Mental Retardation, X-linked 99 3
Mental retardation, X-linked 99, Syndromic, Female-Restricted 3
Mental retardation, X-linked syndromic, Turner type 5
Mental Retardation, X-linked, FRAXE Type 3
Mental Retardation, X-Linked, Syndromic 10 1
Mental Retardation, X-Linked, Syndromic 13 4
Mental Retardation, X-Linked, Syndromic 14 6
Mental Retardation, X-linked, Syndromic 32 1
Mental Retardation, X-linked, Syndromic 33 5
Mental Retardation, X-linked, Syndromic 34 2
Mental Retardation, X-linked, Syndromic, 35 3
Mental Retardation, X-linked, Syndromic, Bain Type 1
Mental Retardation, X-Linked, Syndromic, Christianson Type 8
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 8
Mental Retardation, X-Linked, Syndromic, Hedera Type 4
Mental retardation, X-linked, syndromic, Houge type 1
Mental Retardation, X-Linked, Syndromic, Nascimento Type 4
Mental Retardation, X-Linked, Syndromic, Raymond Type 3
Mental Retardation, X-Linked, Syndromic, Wu Type 3
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related 9
Mental Retardation, X-Linked, With Panhypopituitarism 4
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait 9
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 11
Merosin Deficient Congenital Muscular Dystrophy 8
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 2
Metabolic Syndrome X 1
Metacarpal 4-5 fusion 1
Metachondromatosis 7
Metachromatic Leukodystrophy 4
Metaphyseal Anadysplasia 2 1
Metaphyseal Chondrodysplasia, Jansen Type 3
Metaphyseal Chondrodysplasia, Mckusick Type 4
Metaphyseal Chondrodysplasia, Schmid Type 3
Metaphyseal Dysplasia Without Hypotrichosis 4
Metaphyseal Dysplasia, Spahr Type 1
Metatropic Dwarfism 4
Methemoglobinemia 2
Methemoglobinemia and Ambiguous Genitalia 3
Methemoglobinemia, alpha type 1
Methionine Adenosyltransferase I/III Deficiency 3
Methylmalonate Semialdehyde Dehydrogenase Deficiency 4
Methylmalonic Aciduria and Homocystinuria, cblC Type 7
Methylmalonic Aciduria and Homocystinuria, cblD Type 7
Methylmalonic Aciduria and Homocystinuria, cblF Type 4
Methylmalonic Aciduria and Homocystinuria, cblJ Type 3
Methylmalonic Aciduria Cbla Type 5
Methylmalonic Aciduria Cblb Type 5
Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency 5
Methylmalonic Aciduria Due To Transcobalamin Receptor Defect 5
Methylmalonyl-CoA Epimerase Deficiency 4
Mevalonic Aciduria 5
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 2
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 4
Microcephaly 10, primary, autosomal recessive 1
Microcephaly 13, primary, autosomal recessive 1
Microcephaly 18, Primary, Autosomal Dominant 1
Microcephaly 20, primary, autosomal recessive 1
Microcephaly 22, primary, autosomal recessive 1
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 4
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 4
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 3
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation 7
Microcephaly, congenital cataract, and psoriasiform dermatitis 1
Microcephaly, Epilepsy, And Diabetes Syndrome 4
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 1
Microcephaly, growth deficiency, seizures, and brain malformations 2
Microcephaly, growth restriction, and increased sister chromatid exchange 2 1
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy 2
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 2
Microcephaly, short stature, and polymicrogyria with seizures 5
Microcephaly-capillary malformation syndrome 1
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 3
Microcytic Anemia 1
Microhydranencephaly 2
Microphthalmia Syndromic 3 14
Microphthalmia Syndromic 5 9
Microphthalmia Syndromic 6 10
Microphthalmia Syndromic 7 7
Microphthalmia Syndromic 9 3
Microphthalmia With Limb Anomalies 5
Microphthalmia, Isolated 2 5
Microphthalmia, Isolated 3 4
Microphthalmia, Isolated 4 5
Microphthalmia, Isolated 5 10
Microphthalmia, Isolated 6 3
Microphthalmia, Isolated 7 3
Microphthalmia, Isolated 8 3
Microphthalmia, Isolated, with Coloboma 10 3
Microphthalmia, Isolated, With Coloboma 3 5
Microphthalmia, Isolated, With Coloboma 5 2
Microphthalmia, Isolated, With Coloboma 6 5
Microphthalmia, isolated, with coloboma 7 3
Microphthalmia, Isolated, with Coloboma 9 3
Microphthalmia, syndromic 11 3
Microphthalmia, syndromic 12 2
Microphthalmia, Syndromic 13 3
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome 3
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 7
Microtia, Hearing Impairment, And Cleft Palate 2
Microvascular Complications Of Diabetes 3 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 1
Migraine 1
Miller Syndrome 7
Miller-Dieker Lissencephaly Syndrome 1
Minicore Myopathy With External Ophthalmoplegia 8
MIRAGE syndrome 5
Mirror movements 2 1
Mirror movements 4 1
Mitchell-Riley syndrome 1
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency 3
Mitochondrial Complex I Deficiency 20
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency 4
Mitochondrial complex I deficiency, nuclear type 10 1
Mitochondrial complex I deficiency, nuclear type 12 2
Mitochondrial complex I deficiency, nuclear type 13 1
Mitochondrial complex I deficiency, nuclear type 15 1
Mitochondrial complex I deficiency, nuclear type 16 1
Mitochondrial complex I deficiency, nuclear type 17 1
Mitochondrial complex I deficiency, nuclear type 19 1
Mitochondrial complex I deficiency, nuclear type 22 1
Mitochondrial complex I deficiency, nuclear type 23 1
Mitochondrial complex I deficiency, nuclear type 26 1
Mitochondrial complex I deficiency, nuclear type 3 2
Mitochondrial complex I deficiency, nuclear type 32 3
Mitochondrial complex I deficiency, nuclear type 4 1
Mitochondrial complex I deficiency, nuclear type 5 1
Mitochondrial complex I deficiency, nuclear type 8 1
Mitochondrial Complex II Deficiency 5
Mitochondrial Complex III Deficiency 3
Mitochondrial Complex III Deficiency, Nuclear Type 2 4
Mitochondrial Complex III Deficiency, Nuclear Type 3 3
Mitochondrial Complex III Deficiency, Nuclear Type 4 4
Mitochondrial Complex III Deficiency, Nuclear Type 5 3
Mitochondrial Complex III Deficiency, Nuclear Type 6 3
Mitochondrial Complex III Deficiency, Nuclear Type 7 3
Mitochondrial Complex III Deficiency, Nuclear Type 8 4
Mitochondrial Complex III Deficiency, Nuclear Type 9 3
Mitochondrial Complex IV Deficiency 14
Mitochondrial complex V (ATP synthase) deficiency 2
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 3
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 7
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 3
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4 3
Mitochondrial DNA depletion syndrome 11 5
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) 5
Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD 3
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 9
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) 5
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) 6
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type 8
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) 9
Mitochondrial DNA Depletion Syndrome 7 8
Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria) 9
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy 7
Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral 6
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 1
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome 8
Mitochondrial Phosphate Carrier Deficiency 3
Mitochondrial Pyruvate Carrier Deficiency 1
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency 3
Mitral valve prolapse 2 2
Miyoshi Muscular Dystrophy 3 5
Miyoshi Myopathy 5
Mohr-Tranebjaerg Syndrome 7
Molybdenum Cofactor Deficiency C 2
Molybdenum Cofactor Deficiency Type A 3
Molybdenum Cofactor Deficiency Type B 1
Monoamine Oxidase A Deficiency 3
Monocarboxylate Transporter 1 Deficiency 3
Mononeuropathy Of The Median Nerve, Mild 1
MORM Syndrome 7
Morquio Syndrome A 4
Mosaic Variegated Aneuploidy Syndrome 3
Mosaic Variegated Aneuploidy Syndrome 2 1
Mosaic Variegated Aneuploidy Syndrome 3 1
Mowat-Wilson Syndrome 10
Moyamoya 6 with achalasia 1
Moyamoya Disease 5 4
Mucolipidosis III Gamma 4
Mucopolysaccharidosis Type IX 1
Mucopolysaccharidosis Type VI 2
Mucopolysaccharidosis Type VII 5
Mucopolysaccharidosis, MPS-I-H/S 3
Mucopolysaccharidosis, MPS-I-S 4
Mucopolysaccharidosis, MPS-II 4
Mucopolysaccharidosis, MPS-III-A 4
Mucopolysaccharidosis, MPS-III-B 3
Mucopolysaccharidosis, MPS-III-C 4
Mucopolysaccharidosis, MPS-III-D 4
Mucopolysaccharidosis, MPS-IV-B 3
Mucopolysaccharidosis-plus syndrome 1
Muenke Syndrome 9
Muir-Torre Syndrome 10
Mulibrey Nanism Syndrome 1
Mullerian Aplasia And Hyperandrogenism 7
Multicentric carpotarsal osteolysis syndrome 4
Multiple Carboxylase Deficiency, Juvenile Onset 1
Multiple Carboxylase Defiency, Early Onset 3
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 5
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 8
Multiple congenital anomalies-hypotonia-seizures syndrome 3 2
Multiple Cutaneous And Mucosal Venous Malformations 2
Multiple Endocrine Neoplasia, Type 1 3
Multiple Endocrine Neoplasia, Type 2A 4
Multiple Endocrine Neoplasia, Type 2B 4
Multiple Endocrine Neoplasia, Type IV 2
Multiple Epiphyseal Dysplasia 1 5
Multiple Epiphyseal Dysplasia 2 7
Multiple Epiphyseal Dysplasia 3 6
Multiple Epiphyseal Dysplasia 4 5
Multiple Epiphyseal Dysplasia 5 5
Multiple Epiphyseal Dysplasia 6 8
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 4
Multiple Mitochondrial Dysfunctions Syndrome 1 2
Multiple Mitochondrial Dysfunctions Syndrome 2 2
Multiple Mitochondrial Dysfunctions Syndrome 3 2
Multiple Mitochondrial Dysfunctions Syndrome 4 2
Multiple mitochondrial dysfunctions syndrome 6 2
Multiple Myeloma 2
Multiple sclerosis, susceptibility to, 5 1
Multiple Sulfatase Deficiency 5
Multiple Synostoses Syndrome 1 3
Multiple Synostoses Syndrome 2 3
Multiple Synostoses Syndrome 3 1
Multiple synostoses syndrome 4 4
Multiple system atrophy, susceptibility to 1
Multisystemic Smooth Muscle Dysfunction Syndrome 4
Mungan syndrome 1
Muscle Eye Brain Disease 8
Muscular dystrophy, congenital, Davignon-Chauveau type 2
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency 4
Muscular Dystrophy, Congenital, LMNA-Related 9
Muscular Dystrophy, Congenital, Megaconial Type 4
Muscular dystrophy, congenital, with cataracts and intellectual disability 1
Muscular Dystrophy, Limb Girdle, Type 2C 6
Muscular dystrophy, limb-girdle, autosomal recessive 23 1
Muscular Dystrophy, Limb-Girdle, Type 1C 5
Muscular Dystrophy, Limb-Girdle, Type 1G 3
Muscular Dystrophy, Limb-Girdle, Type 2J 6
Muscular Dystrophy, Limb-Girdle, Type 2L 6
Muscular Dystrophy, Limb-Girdle, Type 2Q 5
Muscular dystrophy, limb-girdle, type 2R 2
Muscular dystrophy, limb-girdle, type 2S 5
Muscular Dystrophy, Limb-Girdle, Type 2W 4
Muscular dystrophy, limb-girdle, type 2X 2
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10; MDDGA10 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 7
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 10
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 4
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 5
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2 4
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 5
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 5
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 7
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 4
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 7
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 5
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 4
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 6
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 7
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 2
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 6
Myasthenia, Limb-Girdle, Familial 5
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 2
Myasthenic syndrome, congenital, 14, with tubular aggregates 4
Myasthenic Syndrome, Congenital, 15, without Tubular Aggregates 1
Myasthenic Syndrome, Congenital, 18 4
Myasthenic Syndrome, Congenital, 19 2
Myasthenic syndrome, congenital, 20, presynaptic 2
Myasthenic syndrome, congenital, 21, presynaptic 2
Myasthenic syndrome, congenital, 22 2
Myasthenic Syndrome, Congenital, 2A, Slow-Channel 3
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 2
Myasthenic syndrome, congenital, 3A, slow-channel 2
Myasthenic syndrome, congenital, 3B, fast-channel 3
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 2
Myasthenic syndrome, congenital, 4A, slow-channel 2
Myasthenic syndrome, congenital, 4B, fast-channel 2
Myasthenic Syndrome, Congenital, 7, Presynaptic 3
Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects 2
Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 2
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency 6
Myasthenic Syndrome, Congenital, Fast-Channel 7
Myasthenic Syndrome, Congenital, Slow-Channel 8
Myasthenic syndrome, congenital, with tubular aggregates 2 4
Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive 2
Myd88 Deficiency 1
Myelodysplastic Syndrome 5
Myelofibrosis 1
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to 5
Myh-Associated Polyposis 8
Myhre Syndrome 4
Myocardial Infarction 1 4
Myoclonic Dystonia 5
Myoclonic Epilepsy, Familial Infantile 4
Myoclonic-Atonic Epilepsy 5
Myoclonus, familial, 2 2
Myoclonus, Intractable, Neonatal 1
Myofibrillar Myopathy, BAG3-Related 7
Myofibrillar Myopathy, Desmin-Related 5
Myofibrillar Myopathy, Filamin C-Related 3
Myofibrillar Myopathy, ZASP-Related 6
Myofibromatosis, Infantile, 1 2
Myofibromatosis, Infantile, 2 1
Myoglobinuria, Acute Recurrent, Autosomal Recessive 6
Myopathy due to Myoadenylate Deaminase Deficiency 2
Myopathy with Extrapyramidal Signs 2
Myopathy With Lactic Acidosis, Hereditary 4
Myopathy, Centronuclear 4
Myopathy, Centronuclear, 1 4
Myopathy, Centronuclear, 3 1
Myopathy, Congenital, Compton-North 5
Myopathy, Distal, 1 5
Myopathy, Distal, 2 5
Myopathy, Distal, 4 3
Myopathy, distal, 5 2
Myopathy, Distal, Tateyama Type 2
Myopathy, Distal, With Anterior Tibial Onset 4
Myopathy, distal, with rimmed vacuoles 2
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia 5
Myopathy, Early-Onset, With Fatal Cardiomyopathy 4
Myopathy, isolated mitochondrial, autosomal dominant 1
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 2
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay 2
Myopathy, myofibrillar, 7 2
Myopathy, myofibrillar, 8 2
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 4
Myopathy, Myosin Storage 4
Myopathy, Myosin Storage, Autosomal Recessive 3
Myopathy, Reducing Body, X-Linked, Childhood-Onset 2
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 2
Myopathy, scapulohumeroperoneal 1
Myopathy, tubular aggregate 5
Myopathy, vacuolar, with CASQ1 aggregates 1
Myopathy, X-linked, with excessive autophagy 2
Myopathy, X-Linked, With Postural Muscle Atrophy 3
Myopia 25, autosomal dominant 1
Myopia, High, with Cataract And Vitreoretinal Degeneration 4
Myosclerosis, Autosomal Recessive 1
Myotilinopathy 4
Myotonia Congenita Autosomal Recessive 3
Naegeli-Franceschetti-Jadassohn Syndrome 2
Nail Disorder, Nonsyndromic Congenital, 8 2
Nail-Patella Syndrome 8
Nance-Horan Syndrome 7
Nanophthalmos 2 5
Nanophthalmos 4 1
Nasopharyngeal Carcinoma 1
Native American myopathy 5
Navajo Neurohepatopathy 4
Naxos Disease 4
Nemaline Myopathy 1 5
Nemaline Myopathy 10 4
Nemaline myopathy 11, autosomal recessive 4
Nemaline Myopathy 2 8
Nemaline Myopathy 3 6
Nemaline Myopathy 4 5
Nemaline Myopathy 5 5
Nemaline Myopathy 6 5
Nemaline Myopathy 7 5
Nemaline Myopathy 8 7
Nemaline Myopathy 9 5
Neoplasm Of Ovary 8
Neoplasm Of Stomach 3
Nephrogenic Syndrome Of Inappropriate Antidiuresis 3
Nephrolithiasis, Calcium Oxalate 2
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 5
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 2
Nephronophthisis 7
Nephronophthisis 11 5
Nephronophthisis 12 5
Nephronophthisis 13 3
Nephronophthisis 14 4
Nephronophthisis 15 7
Nephronophthisis 16 4
Nephronophthisis 18 4
Nephronophthisis 19 4
Nephronophthisis 20 1
Nephronophthisis 4 5
Nephronophthisis 7 4
Nephronophthisis 9 5
Nephronophthisis-Like Nephropathy 1 1
Nephrotic Syndrome, Idiopathic, Steroid-Resistant 2
Nephrotic Syndrome, Type 10 2
Nephrotic Syndrome, Type 11 4
Nephrotic Syndrome, Type 12 2
Nephrotic Syndrome, Type 13 2
Nephrotic Syndrome, Type 14 2
Nephrotic Syndrome, Type 15 3
Nephrotic syndrome, type 18 1
Nephrotic syndrome, type 19 1
Nephrotic syndrome, type 20 1
Nephrotic Syndrome, Type 3 3
Nephrotic syndrome, type 4 5
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities 5
Nephrotic Syndrome, Type 6 1
Nephrotic Syndrome, Type 7 4
Nephrotic Syndrome, Type 8 1
Nephrotic syndrome, type 9 4
Nestor-Guillermo Progeria Syndrome 1
Netherton Syndrome 4
Neu-Laxova syndrome 1 3
Neu-Laxova syndrome 2 3
Neural Tube Defects 1
Neural Tube Defects, Folate-Sensitive 3
Neuroblastoma 1 4
Neuroblastoma 2 5
Neuroblastoma 3 5
Neurocutaneous melanosis, somatic 2
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 1
Neurodegeneration With Brain Iron Accumulation 1 2
Neurodegeneration With Brain Iron Accumulation 2B 3
Neurodegeneration With Brain Iron Accumulation 4 5
Neurodegeneration With Brain Iron Accumulation 5 9
Neurodegeneration With Brain Iron Accumulation 6 2
Neurodegeneration with brain iron accumulation 7 1
Neurodegeneration with brain iron accumulation 8 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1
Neurodegeneration, childhood-onset, with brain atrophy 1
Neurodegeneration, childhood-onset, with cerebellar atrophy 1
Neurodevelopmental disorder and language delay with or without structural brain abnormalities 2
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 2
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 1
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 1
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 2
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 1
Neurodevelopmental Disorder with Involuntary Movements 3
Neurodevelopmental