TESTS BY DISEASE

Tests Found: 4996

Disease Name Number of Tests Offered
2,4-dienoyl-CoA reductase deficiency 3
2-aminoadipic 2-oxoadipic aciduria 1
2-Methyl-3-Hydroxybutyric Aciduria 5
2-Methylbutyryl-CoA Dehydrogenase Deficiency 3
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency 6
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of 6
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 7
3-M Syndrome 2
3-Methylcrotonyl CoA Carboxylase 2 Deficiency 7
3-Methylglutaconic Aciduria 5
3-Methylglutaconic Aciduria Type 2 16
3-Methylglutaconic Aciduria Type 3 8
3-Methylglutaconic Aciduria Type V 3
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome 5
3-methylglutaconic aciduria, type IX 2
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 6
3-methylglutaconic aciduria, type VIII 3
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency 6
3MC syndrome 1 5
3MC syndrome 2 4
46, XX sex reversal 4 3
46,XX sex reversal 5 1
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 3
46,XY Sex Reversal, Type 3 6
46,XY Sex Reversal, Type 5 4
46,XY Sex Reversal, Type 6 8
46,XY Sex Reversal, Type 7 6
46XY Sex Reversal 9 6
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 3
Aarskog Syndrome 6
ABCD Syndrome 4
Abdominal obesity-metabolic syndrome 3 1
Ablepharon-macrostomia syndrome 2
Abruzzo-Erickson syndrome 3
Acatalasemia 1
Aceruloplasminemia 5
Acheiropody 4
Achondrogenesis Type 2 12
Achondrogenesis, Type Ia 3
Achondrogenesis, Type Ib 7
Achondroplasia 13
Achromatopsia 2 4
Achromatopsia 3 4
Achromatopsia 4 5
Achromatopsia 7 4
Acne Inversa, Familial, 2 1
Acne Inversa, Familial, 3 2
Acquired Partial Lipodystrophy 2
Acrocallosal Syndrome, Schinzel Type 16
Acrocapitofemoral Dysplasia 5
Acrodermatitis Enteropathica 2
Acrodysostosis 5
Acrodysostosis 2, with or without Hormone Resistance 7
Acrofacial Dysostosis 1, Nager Type 11
Acrofacial dysostosis, Cincinnati type 2
Acrokeratosis Verruciformis Of Hopf 1
Acromelic frontonasal dysostosis 4
Acromesomelic Dysplasia Hunter Thompson Type 7
Acromesomelic Dysplasia Maroteaux Type 4
Acromicric Dysplasia 10
ACTH Resistance 1
ACTH-independent macronodular adrenal hyperplasia 2
Acute Intermittent Porphyria 3
Acute Lymphoblastic Leukemia 4
Adams-Oliver Syndrome 1 11
Adams-Oliver Syndrome 2 11
Adams-Oliver Syndrome 3 6
Adams-Oliver Syndrome 4 8
Adams-Oliver Syndrome 5 8
Adams-Oliver Syndrome 6 8
Adenine Phosphoribosyltransferase Deficiency 1
Adenomatous Polyposis Coli 7
Adenosine Triphosphate, Elevated, Of Erythrocytes 1
Adenylate Kinase Deficiency, Hemolytic Anemia Due To 1
Adenylosuccinate Lyase Deficiency 9
Adolescent Nephronophthisis 8
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency 2
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency 5
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 7
Adrenocortical Carcinoma, Hereditary 5
Adrenoleukodystrophy 12
Adult Hypophosphatasia 7
Adult Onset Ataxia With Oculomotor Apraxia 7
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 3
ADULT Syndrome 8
Advanced Sleep Phase Syndrome, Familial 1
Afibrinogenemia 1
Afibrinogenemia, congenital 9
Agammaglobulinemia 1 3
Agammaglobulinemia 2, Autosomal Recessive 3
Agammaglobulinemia 3, Autosomal Recessive 3
Agammaglobulinemia 4, Autosomal Recessive 4
Agammaglobulinemia 5, Autosomal Dominant 3
Agammaglobulinemia 6, Autosomal Recessive 3
Agammaglobulinemia 7, Autosomal Recessive 7
Agammaglobulinemia 8, autosomal dominant 4
AGAT Deficiency 5
Age-Related Macular Degeneration 1 3
Age-Related Macular Degeneration 4 4
Age-Related Macular Degeneration 5 5
Age-Related Macular Degeneration 6 3
Age-Related Macular Degeneration 7 1
Age-Related Macular Degeneration 9 3
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
Agnathia-Otocephaly Complex 3
AICAR Transformylase/Imp Cyclohydrolase Deficiency 1
Aicardi-Goutieres Syndrome 1 8
Aicardi-Goutieres Syndrome 2 7
Aicardi-Goutieres Syndrome 3 7
Aicardi-Goutieres Syndrome 4 7
Aicardi-Goutieres Syndrome 5 7
Aicardi-Goutieres Syndrome 6 6
Aicardi-Goutieres Syndrome 7 5
Al-Gazali syndrome 2
Al-Gazali-Bakalinova syndrome 11
Al-Raqad Syndrome 1
Alacrima, Achalasia, and Mental Retardation Syndrome 2
Alagille Syndrome 1 13
Alagille Syndrome 2 12
Aland Island Eye Disease 5
Alazami Syndrome 3
Alazami-Yuan Syndrome 3
Albinism, Ocular, With Sensorineural Deafness 9
Albinism, Oculocutaneous, Type VII 5
Alexander Disease 6
Alkaptonuria 1
Alkuraya-Kucinskas syndrome 5
Allan-Herndon-Dudley Syndrome 7
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome 1
Alpha Thalassemia 7
Alpha-1-Antitrypsin Deficiency 2
Alpha-B Crystallinopathy 6
Alpha-Ketoglutarate Dehydrogenase Deficiency 1
Alpha-Methylacetoacetic Aciduria 8
Alpha-Methylacyl-CoA Racemase Deficiency 4
Alpha-Thalassemia Myelodysplasia Syndrome 6
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity 2
Alport Syndrome, Autosomal Dominant 6
Alport Syndrome, Autosomal Recessive 8
Alport Syndrome, X-Linked Recessive 6
Alstrom Syndrome 10
Alternating Hemiplegia Of Childhood 5
Alternating Hemiplegia of Childhood 2 8
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins 3
Alzheimer Disease, Type 3 5
Alzheimer Disease, Type 4 6
Alzheimer's Disease 6
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 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 4
Aminoacylase 1 Deficiency 5
Amish Infantile Epilepsy Syndrome 5
Amish Lethal Microcephaly 3
Aml - Acute Myeloid Leukemia 20
Amyloidogenic Transthyretin Amyloidosis 8
Amyloidosis, Finnish Type 3
Amyotrophic Lateral Sclerosis 16, Juvenile 2
Amyotrophic lateral sclerosis 19 2
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 2
Amyotrophic lateral sclerosis 5, juvenile 1
Amyotrophic Lateral Sclerosis Type 1 5
Amyotrophic Lateral Sclerosis Type 10 6
Amyotrophic Lateral Sclerosis Type 11 10
Amyotrophic Lateral Sclerosis Type 12 6
Amyotrophic Lateral Sclerosis Type 14 4
Amyotrophic Lateral Sclerosis Type 15 5
Amyotrophic Lateral Sclerosis Type 17 5
Amyotrophic Lateral Sclerosis Type 18 4
Amyotrophic Lateral Sclerosis Type 2 4
Amyotrophic Lateral Sclerosis Type 20 5
Amyotrophic Lateral Sclerosis Type 4 4
Amyotrophic Lateral Sclerosis Type 6 5
Amyotrophic Lateral Sclerosis Type 8 4
Amyotrophic Lateral Sclerosis Type 9 4
Amyotrophic lateral sclerosis, susceptibility to, 24 6
Amyotrophic Lateral Sclerosis, Susceptibility to, 25 2
Amytrophic Lateral Sclerosis 23 3
Anauxetic Dysplasia 4
Anauxetic dysplasia 2 1
Anauxetic dysplasia 3 1
Andermann Syndrome 4
Andersen Tawil Syndrome 10
Androgen Resistance Syndrome 7
Anemia Sideroblastic And Spinocerebellar Ataxia 3
Anemia, neonatal hemolytic, fatal or near-fatal 1
Anemia, sideroblastic, 3, pyridoxine-refractory 2
Anemia, sideroblastic, 4 1
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 2
Angelman Syndrome 9
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 6
Aniridia 2 2
Aniridia, Cerebellar Ataxia, And Mental Retardation 3
Anterior segment dysgenesis 6, multiple subtypes 2
Anterior segment dysgenesis 8 3
Anterior Segment Mesenchymal Dysgenesis 8
Anti-Plasmin Deficiency, Congenital 3
Antithrombin III Deficiency 1
Antley-Bixler Syndrome 11
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis 10
Aortic Aneurysm, Familial Thoracic 10 5
Aortic Aneurysm, Familial Thoracic 11, susceptibility to 6
Aortic Aneurysm, Familial Thoracic 4 8
Aortic Aneurysm, Familial Thoracic 6 9
Aortic Aneurysm, Familial Thoracic 7 5
Aortic Aneurysm, Familial Thoracic 8 5
Aortic Aneurysm, Familial Thoracic 9 4
Aortic valve disease 2 3
Aortic Valve Disorder 7
Apert Syndrome 13
Aphakia, Congenital Primary 10
Aplasia Of Lacrimal And Salivary Glands 3
Aplastic Anemia 4
Apolipoprotein C2 Deficiency 2
Apparent Mineralocorticoid Excess 2
Arginase Deficiency 9
Argininosuccinate Lyase Deficiency 4
Aromatase Deficiency 2
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 10
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 10
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 7
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 11
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 9
Arrhythmogenic right ventricular dysplasia, familial, 13 2
Arrhythmogenic right ventricular dysplasia, familial, 14 1
Arterial Calcification Of Infancy 8
Arterial Calcification, Generalized, of Infancy, 2 4
Arterial Tortuosity Syndrome 6
Arteriovenous Malformations Of The Brain 5
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 1
Arthrogryposis Multiplex Congenita Distal Type 1 5
Arthrogryposis Multiplex Congenita, Distal, X-Linked 1
Arthrogryposis multiplex congenita, myogenic type 2
Arthrogryposis multiplex congenita, neurogenic type 1
Arthrogryposis multiplex congenita, neurogenic, with myelin defect 1
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 4
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 3
Arthrogryposis, Distal, Type 1B 3
Arthrogryposis, Distal, Type 2B 12
Arthrogryposis, distal, type 2B2 3
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 4
Arthrogryposis, Distal, Type 3 4
Arthrogryposis, Distal, Type 5 4
Arthrogryposis, distal, type 5D 6
Arthrogryposis, Distal, Type 7 5
Arthrogryposis, Distal, Type 8 7
Arthrogryposis, Distal, with Impaired Proprioception and Touch 2
Arthrogryposis, Mental Retardation, and Seizures 1
Arthrogryposis, Perthes disease, and upward gaze palsy 3
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 4
Arts Syndrome 5
Asparagine synthetase deficiency 3
Aspartylglycosaminuria 5
Asperger Syndrome, X-Linked, Susceptibility To, 1 3
Asperger Syndrome, X-Linked, Susceptibility To, 2 5
Aspergillosis, Susceptibility To 1
Asplenia, isolated congenital 1
Asthma, Susceptibility To 1
Ataxia With Vitamin E Deficiency 2
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 1
Ataxia, sensory, 1, autosomal dominant 1
Ataxia-Oculomotor Apraxia 3 2
Ataxia-oculomotor apraxia 4 4
Ataxia-Pancytopenia Syndrome 6
Ataxia-Telangiectasia Syndrome 16
Ataxia-Telangiectasia-Like Disorder 10
Ataxia-telangiectasia-like disorder 2 1
Atelosteogenesis, type I 5
Atelosteogenesis, Type II 8
Atelosteogenesis, type III 5
Athabaskan Brainstem Dysgenesis 5
ATR-X Syndrome 15
Atrial fibrillation 15 1
Atrial Fibrillation, Familial, 10 8
Atrial Fibrillation, Familial, 11 6
Atrial Fibrillation, Familial, 12 10
Atrial Fibrillation, Familial, 13 6
Atrial Fibrillation, Familial, 14 7
Atrial Fibrillation, Familial, 18 2
Atrial Fibrillation, Familial, 3 8
Atrial Fibrillation, Familial, 4 7
Atrial Fibrillation, Familial, 6 4
Atrial Fibrillation, Familial, 7 5
Atrial Fibrillation, Familial, 9 8
Atrial Myxoma, Familial 6
Atrial Septal Defect 2 6
Atrial Septal Defect 3 8
Atrial Septal Defect 4 2
Atrial Septal Defect 5 7
Atrial Septal Defect 6 2
Atrial septal defect 8 2
Atrial septal defect 9 4
Atrial Septal Defect With Atrioventricular Conduction Defects 10
Atrial standstill, digenic (GJA5/SCN5A) 2
Atrioventricular Septal Defect 6
Atrioventricular Septal Defect 2 3
Atrioventricular Septal Defect 4 6
Atrioventricular septal defect 5 4
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 3
Atypical Hemolytic-Uremic Syndrome 6 2
Atypical Mycobacteriosis, Familial 2
Atypical Mycobacteriosis, Familial, X-Linked 2 4
Au-Kline syndrome 4
Auditory neuropathy and optic atrophy 2
Auditory neuropathy, autosomal dominant, 1 1
Aural atresia, congenital 1
Auriculocondylar syndrome 1 3
Auriculocondylar syndrome 2 3
Auriculocondylar syndrome 3 2
Autism 10 1
Autism 15 3
Autism 16 1
Autism 17 2
Autism Susceptibility 1 3
Autism, Susceptibility to, 18 5
Autism, Susceptibility To, X-Linked 1 3
Autism, Susceptibility To, X-Linked 2 5
Autism, Susceptibility To, X-Linked 3 4
Autism, Susceptibility to, X-linked 4 3
Autism, Susceptibility To, X-Linked 5 2
Autism, Susceptibility to, X-linked 6 2
Autoimmune Disease, Multisystem, Infantile-Onset, 1 6
Autoimmune disease, multisystem, infantile-onset, 2 2
Autoimmune Disease, Syndromic Multisystem 2
Autoimmune interstitial lung, joint, and kidney disease 1
Autoimmune Lymphoproliferative Syndrome 3
Autoimmune Lymphoproliferative Syndrome, Type 2 2
Autoimmune Lymphoproliferative Syndrome, Type III 5
Autoimmune Lymphoproliferative Syndrome, Type V 4
Autoimmune Thyroid Disease 3 2
Autoinflammation with arthritis and dyskeratosis 2
Autoinflammation with episodic fever and lymphadenopathy 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 5
Autosomal Recessive Cutis Laxa Type 3A 8
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 3
Autosomal Recessive Hypophosphatemic Bone Disease 6
Avascular Necrosis Of Femoral Head, Primary 11
Avascular necrosis of femoral head, primary, 2 4
Avellino Corneal Dystrophy 2
Axenfeld-Rieger Syndrome Type 3 9
Axenfeld-Rieger syndrome, type 1 13
Ayme-Gripp Syndrome 7
B-cell expansion with NFKB and T-cell anergy 3
Bacteremia, Susceptibility To, 1 1
Bainbridge-Ropers Syndrome 5
Baker-Gordon syndrome 3
Baller-Gerold Syndrome 12
Bamforth Syndrome 2
Band Heterotopia 4
Bannayan-Riley-Ruvalcaba Syndrome 10
Baraitser-Winter Syndrome 1 11
Baraitser-Winter Syndrome 2 7
Barakat Syndrome 6
Barber-Say Syndrome 4
Bardet-Biedl Syndrome 1 16
Bardet-Biedl Syndrome 10 15
Bardet-Biedl Syndrome 11 15
Bardet-Biedl Syndrome 12 15
Bardet-Biedl Syndrome 13 14
Bardet-Biedl Syndrome 14 12
Bardet-Biedl Syndrome 15 10
Bardet-Biedl Syndrome 16 13
Bardet-Biedl Syndrome 17 11
Bardet-Biedl Syndrome 18 11
Bardet-Biedl Syndrome 19 11
Bardet-Biedl Syndrome 2 14
Bardet-Biedl Syndrome 20 7
Bardet-Biedl Syndrome 21 7
Bardet-Biedl Syndrome 3 15
Bardet-Biedl Syndrome 4 15
Bardet-Biedl Syndrome 5 16
Bardet-Biedl Syndrome 6 18
Bardet-Biedl Syndrome 7 15
Bardet-Biedl Syndrome 8 14
Bardet-Biedl Syndrome 9 15
Bare Lymphocyte Syndrome, Type I 1
Bartter Syndrome Antenatal Type 1 5
Bartter Syndrome Antenatal Type 2 4
Bartter Syndrome Type 4 5
Bartter syndrome, type 5, antenatal, transient 1
Basal cell carcinoma 7 4
Basal Cell Carcinoma, Multiple 5
Basal Ganglia Calcification, Idiopathic, 1 2
Basal Ganglia Calcification, Idiopathic, 4 6
Basal Ganglia Calcification, Idiopathic, 5 3
Basal Ganglia Calcification, Idiopathic, 6 2
Basal ganglia cancification, idiopathic, 7, autosomal recessive 1
Basal Ganglia Disease, Biotin-Responsive 8
Basal Laminar Drusen 2
Basan syndrome 2
Basel-Vanagait-Smirin-Yosef Syndrome 1
Basilicata-Akhtar syndrome 2
Becker Muscular Dystrophy 7
Beckwith-Wiedemann Syndrome 13
Behr Syndrome 6
Benign Familial Hematuria 3
Benign Familial Neonatal Seizures 1 7
Benign Familial Neonatal-Infantile Seizures 8
Benign Hereditary Chorea 3
Benign Recurrent Intrahepatic Cholestasis 1 3
Benign Recurrent Intrahepatic Cholestasis 2 2
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 9
Bent bone dysplasia syndrome 11
Bernard Soulier Syndrome 12
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 6
Bestrophinopathy, Autosomal Recessive 8
Beta-D-Mannosidosis 5
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency 4
Beta-Ureidopropionase Deficiency 1
Bethlem Myopathy 5
Bethlem Myopathy 12
Bethlem Myopathy 2 8
BH4-Deficient Hyperphenylalaninemia D 3
Bietti Crystalline Corneoretinal Dystrophy 3
Bifid Nose With Or Without Anorectal And Renal Anomalies 5
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 3
Bile Acid Synthesis Defect, Congenital, 4 4
Bile Acid Synthesis Defect, Congenital, 5 3
Birk Barel Mental Retardation Dysmorphism Syndrome 2
Birt-Hogg-Dube Syndrome 4
Bjornstad Syndrome 6
Bladder Cancer 9
Bleeding Disorder, Platelet-Type, 11 3
Bleeding Disorder, Platelet-Type, 13, Susceptibility To 4
Bleeding Disorder, Platelet-Type, 14 2
Bleeding Disorder, Platelet-Type, 15 4
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 2
Bleeding disorder, platelet-type, 22 1
Bleeding Disorder, Platelet-Type, 8 4
Bleeding Disorder, Platelet-Type, 9 2
Blepharocheilodontic syndrome 1 5
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 9
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 6
Bone Fragility With Contractures, Arterial Rupture, And Deafness 3
Bone Marrow Failure Syndrome 1 6
Bone Marrow Failure Syndrome 2 2
Bone Marrow Failure Syndrome 3 4
Bone marrow failure syndrome 4 1
Bone marrow failure syndrome 5 2
Bone Mineral Density QTL18, Osteoporosis 6
Bone Mineral Density Quantitative Trait Locus 1 3
Boomerang Dysplasia 5
Borjeson-Forssman-Lehmann Syndrome 9
Bosch-Boonstra-Schaaf optic atrophy syndrome 6
Bosma arhinia microphthalmia syndrome 5
Bothnia Retinal Dystrophy 7
Boucher-Neuhauser syndrome 3
Bowen-Conradi Syndrome 1
Brachycephaly, trichomegaly, and developmental delay 1
Brachydactyly Type A1 6
Brachydactyly Type A2 10
Brachydactyly Type C 8
Brachydactyly, type A1, C 7
Brachydactyly, Type A1, D 4
Brachydactyly, Type B1 8
Brachydactyly, Type B2 7
Brachydactyly, Type D 6
Brachydactyly, Type E1 6
Brachydactyly, Type E2 2
Brachydactyly-Syndactyly Syndrome 5
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 5
Brachyolmia Type 3 5
Brain abnormalities, neurodegeneration, and dysosteosclerosis 4
Brain malformations with or without urinary tract defects 3
Brain small vessel disease 3 4
Brain Small Vessel Disease With Hemorrhage 3
Branched-chain ketoacid dehydrogenase kinase deficiency 5
Branchiooculofacial Syndrome 7
Branchiootic syndrome 1 7
Branchiootic Syndrome 3 6
Branchiootorenal Syndrome 1, with or without Cataracts 8
Branchiootorenal Syndrome 2 4
Breast-Ovarian Cancer, Familial 1 15
Breast-Ovarian Cancer, Familial 2 18
Breast-Ovarian Cancer, Familial 3 9
Breast-Ovarian Cancer, Familial 4 8
Breasts and/or nipples, aplasia or hypoplasia of, 2 1
Brittle Cornea Syndrome 1 5
Brittle Cornea Syndrome 2 6
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 5
Brown-Vialetto-Van Laere syndrome 2 6
Bruck syndrome 1 3
Bruck Syndrome 2 7
Brugada Syndrome 1 9
Brugada Syndrome 2 8
Brugada Syndrome 3 9
Brugada Syndrome 4 10
Brugada Syndrome 5 7
Brugada Syndrome 6 7
Brugada Syndrome 7 7
Brugada Syndrome 8 7
Brugada Syndrome 9 6
Budd-Chiari Syndrome 2
Bulbo-Spinal Atrophy X-Linked 2
Burn-McKeown Syndrome 1
Butyrylcholinesterase Deficiency 1
C Syndrome 1
C1q Deficiency 1
Caffey Disease 9
Calcification Of Joints And Arteries 1
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia 2
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 2
Camptodactyly, Tall Stature, And Hearing Loss Syndrome 13
Camptomelic Dysplasia 14
Camptosynpolydactyly, Complex 6
Camurati-Engelmann Disease 8
Candidiasis, Familial, 2 1
Candidiasis, Familial, 4 1
Candidiasis, Familial, 5 1
Candidiasis, Familial, 6 1
Candidiasis, Familial, 7 3
Candidiasis, familial, 9 1
Capillary Malformation-Arteriovenous Malformation 2
Capillary malformation-arteriovenous malformation 2 3
Capillary malformations, congenital, 1, somatic, mosaic 1
CAPOS syndrome 7
CARASIL Syndrome 6
Carbohydrate-Deficient Glycoprotein Syndrome Type II 3
Carcinoid Tumors, Intestinal 4
Cardiac Conduction Disease with or without Dilated Cardiomyopathy 1
Cardiac valvular defect, developmental 2
Cardiac Valvular Dysplasia, X-Linked 13
Cardiac, facial, and digital anomalies with developmental delay 3
Cardiac-urogenital syndrome 3
Cardio-Facio-Cutaneous Syndrome 10
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 8
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 6
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 4
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 4
Cardiofaciocutaneous syndrome 2 10
Cardiofaciocutaneous syndrome 3 11
Cardiofaciocutaneous syndrome 4 10
Cardiomyopathy Dilated With Woolly Hair And Keratoderma 8
Cardiomyopathy, Dilated, 1gg 3
Cardiomyopathy, Dilated, 1Hh 6
Cardiomyopathy, dilated, 1II 5
Cardiomyopathy, dilated, 1JJ 5
Cardiomyopathy, Dilated, 1KK 8
Cardiomyopathy, dilated, 1NN 4
Cardiomyopathy, Dilated, 1U 1
Cardiomyopathy, Dilated, 1V 1
Cardiomyopathy, dilated, 2A 1
Cardiomyopathy, Dilated, 2B 4
Cardiomyopathy, dilated, 2C 3
Cardiomyopathy, Dilated, 3B 8
Cardiomyopathy, familial hypertrophic 3
Cardiomyopathy, familial hypertrophic 27 3
Cardiomyopathy, Familial Hypertrophic, 17 6
Cardiomyopathy, Familial Hypertrophic, 19 2
Cardiomyopathy, familial restrictive 5 4
Cardiomyopathy, Familial Restrictive, 1 4
Cardiomyopathy, Familial Restrictive, 3 4
Cardiospondylocarpofacial Syndrome 2
Carney Complex Variant 3
Carney Complex, Type 1 7
Carnitine Palmitoyltransferase I Deficiency 7
Carnitine Palmitoyltransferase II Deficiency, Infantile 7
Carnitine Palmitoyltransferase II Deficiency, Late-Onset 7
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 7
Carnitine-Acylcarnitine Translocase Deficiency 8
Carotid Intimal Medial Thickness 1 1
Carpal Tunnel Syndrome 1
Carpenter Syndrome 6
Carpenter Syndrome 2 5
Caspase-8 Deficiency 2
Cataract 10 5
Cataract 11 6
Cataract 12 4
Cataract 13 4
Cataract 14 5
Cataract 15 5
Cataract 16 6
Cataract 17 5
Cataract 18 4
Cataract 19 5
Cataract 2 5
Cataract 20 4
Cataract 21 8
Cataract 22 5
Cataract 23 6
Cataract 3 5
Cataract 30 4
Cataract 31 5
Cataract 33 5
Cataract 34, multiple types 6
Cataract 36 4
Cataract 38 8
Cataract 39 5
Cataract 4 4
Cataract 41 6
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 5
Cataract 9 5
Cataract, Congenital, X-Linked 10
Cataract, Zonular Pulverulent 1 5
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 3
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 9
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 7
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness 5
Catel-Manzke Syndrome 4
CATSPER-Related Male Infertility 4
Cavitary optic disc anomalies 1
Cd59 Deficiency 2
Cd8 Deficiency, Familial 1
CEBALID syndrome 1
Celiac Disease 3 2
Celiac Disease 4 1
Central areolar choroidal dystrophy 1 1
Central Core Disease 7
Central Precocious Puberty 2
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency 6
Centronuclear myopathy 5 3
Centronuclear myopathy 6 with fiber-type disproportion 2
Cerebellar ataxia and hypogonadotropic hypogonadism 2
Cerebellar Ataxia, Cayman Type 1
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 2
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 2
Cerebellar ataxia, nonprogressive, with mental retardation 1
Cerebellar atrophy with seizures and variable developmental delay 3
Cerebellar atrophy, developmental delay, and seizures 5
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation 5
Cerebellar, ocular, craniofacial, and genital syndrome 2
Cerebellofaciodental syndrome 1
Cerebral Amyloid Angiopathy, App-Related 1
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 5
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 7
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 2
Cerebral Folate Deficiency 9
Cerebral Palsy, Spastic Quadriplegic, 1 4
Cerebral Palsy, Spastic Quadriplegic, 2 3
Cerebral palsy, spastic quadriplegic, 3 1
Cerebro-Oculo-Facio-Skeletal Syndrome 6
Cerebrocostomandibular syndrome 2
Cerebrooculofacioskeletal Syndrome 2 7
Cerebrooculofacioskeletal syndrome 3 7
Cerebrooculofacioskeletal Syndrome 4 7
Cerebroretinal Microangiopathy with Calcifications and Cysts 9
Cerebroretinal microangiopathy with calcifications and cysts 2 3
Cerebrotendinous Xanthomatosis 10
Ceroid Lipofuscinosis Neuronal 1 11
Ceroid Lipofuscinosis Neuronal 10 9
Ceroid Lipofuscinosis Neuronal 11 8
Ceroid Lipofuscinosis Neuronal 12 8
Ceroid Lipofuscinosis Neuronal 13 6
Ceroid Lipofuscinosis Neuronal 14 8
Ceroid Lipofuscinosis Neuronal 2 10
Ceroid Lipofuscinosis Neuronal 3 9
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 7
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant 8
Ceroid Lipofuscinosis Neuronal 5 8
Ceroid Lipofuscinosis Neuronal 6 8
Ceroid Lipofuscinosis Neuronal 7 10
Ceroid Lipofuscinosis Neuronal 8 9
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant 8
Cervical Cancer 7
Chanarin-Dorfman Syndrome 5
CHAND syndrome 5
Char Syndrome 7
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 4
Charcot-Marie-Tooth Disease Type 2C 11
Charcot-Marie-Tooth Disease Type 2D 7
Charcot-Marie-Tooth Disease Type 2E 6
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 6
Charcot-Marie-Tooth disease, axonal, type 2CC 3
Charcot-Marie-Tooth disease, axonal, type 2DD 2
Charcot-Marie-Tooth disease, axonal, type 2EE 4
Charcot-Marie-Tooth Disease, Axonal, Type 2O 9
Charcot-Marie-Tooth disease, axonal, type 2V 2
Charcot-Marie-Tooth disease, axonal, type 2W 1
Charcot-Marie-Tooth disease, axonal, type 2X 1
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive 4
Charcot-Marie-Tooth Disease, Dominant Intermediate B 7
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, dominant intermediate G 1
Charcot-Marie-Tooth Disease, Recessive Intermediate A 4
Charcot-Marie-Tooth Disease, Recessive Intermediate B 9
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 4
Charcot-Marie-Tooth Disease, Type 1E 4
Charcot-Marie-Tooth Disease, Type 1F 6
Charcot-Marie-Tooth Disease, Type 2A2 11
Charcot-Marie-Tooth Disease, Type 2L 7
Charcot-Marie-Tooth Disease, Type 2N 4
Charcot-Marie-Tooth Disease, Type 2Q 4
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 5
Charcot-Marie-Tooth Disease, Type 3 8
Charcot-Marie-Tooth Disease, Type 4A 4
Charcot-Marie-Tooth Disease, Type 4B1 8
Charcot-Marie-Tooth Disease, Type 4B2 10
Charcot-Marie-Tooth Disease, Type 4B3 10
Charcot-Marie-Tooth Disease, Type 4C 7
Charcot-Marie-Tooth Disease, Type 4D 5
Charcot-Marie-Tooth Disease, Type 4E 6
Charcot-Marie-Tooth Disease, Type 4F 7
Charcot-Marie-Tooth Disease, Type 4H 4
Charcot-Marie-Tooth Disease, Type 4J 12
Charcot-Marie-Tooth Disease, Type 4K 3
Charcot-Marie-Tooth Disease, Type Ib 5
Charcot-Marie-Tooth Disease, Type IC 4
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 5
Charcot-Marie-Tooth Disease, X-linked Dominant, 6 5
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 9
Charcot-Marie-Toothe Disease, Type 2P 3
CHARGE Association 22
Chediak-Higashi Syndrome 12
Cherubism 4
Chilblain lupus 2 1
Chilblain Lupus Erythematosus 2
Child Syndrome 8
Childhood Hypophosphatasia 7
CHIME syndrome 4
Chitayat Syndrome 3
CHMP2B-Related Frontotemporal Dementia 5
Choanal Atresia And Lymphedema 1
Cholecystitis 2
Cholestasis Of Pregnancy 2
Cholestasis, intrahepatic, of pregnancy, 3 2
Cholestasis, Progressive Familial Intrahepatic 2 3
Cholestasis, Progressive Familial Intrahepatic 3 4
Cholestasis, Progressive Familial Intrahepatic 4 4
Cholestasis, progressive familial intrahepatic, 5 2
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency 6
Chondrocalcinosis 2 2
Chondrodysplasia Acromesomelic With Genital Anomalies 4
Chondrodysplasia Blomstrand Type 3
Chondrodysplasia Punctata 1, X-Linked Recessive 4
Chondrodysplasia Punctata 2 X-Linked Dominant 10
Chondrodysplasia with Joint Dislocations, Gpapp Type 3
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 3
Chondrosarcoma 1
CHOPS Syndrome 7
Choreoacanthocytosis 1
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 6
Choroid Plexus Papilloma 7
Choroidal Dystrophy, Central Areolar 2 4
Choroideremia 8
Chromosome 9Q Deletion Syndrome 9
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 5
Chronic granulomatous disease 5, autosomal recessive 1
Chronic Infantile Neurological, Cutaneous And Articular Syndrome 8
Chronic Myeloid Leukemia 1
Chronic Obstructive Pulmonary Disease 1
Chudley-McCullough syndrome 4
Chylomicron Retention Disease 2
Ciliary Dyskinesia, Primary, 1 11
Ciliary Dyskinesia, Primary, 10 9
Ciliary Dyskinesia, Primary, 11 7
Ciliary Dyskinesia, Primary, 12 7
Ciliary Dyskinesia, Primary, 13 9
Ciliary Dyskinesia, Primary, 14 9
Ciliary Dyskinesia, Primary, 15 9
Ciliary Dyskinesia, Primary, 16 8
Ciliary Dyskinesia, Primary, 17 8
Ciliary Dyskinesia, Primary, 18 8
Ciliary Dyskinesia, Primary, 19 8
Ciliary Dyskinesia, Primary, 2 9
Ciliary Dyskinesia, Primary, 20 8
Ciliary Dyskinesia, Primary, 21 6
Ciliary Dyskinesia, Primary, 22 8
Ciliary Dyskinesia, Primary, 23 6
Ciliary Dyskinesia, Primary, 24 6
Ciliary Dyskinesia, Primary, 25 6
Ciliary Dyskinesia, Primary, 26 8
Ciliary Dyskinesia, Primary, 27 6
Ciliary Dyskinesia, Primary, 28 7
Ciliary Dyskinesia, primary, 29 6
Ciliary Dyskinesia, Primary, 3 9
Ciliary Dyskinesia, Primary, 30 6
Ciliary Dyskinesia, Primary, 32 6
Ciliary Dyskinesia, Primary, 33 7
Ciliary Dyskinesia, Primary, 34 5
Ciliary Dyskinesia, Primary, 35 6
Ciliary Dyskinesia, Primary, 36 4
Ciliary Dyskinesia, Primary, 37 8
Ciliary dyskinesia, primary, 38 3
Ciliary dyskinesia, primary, 39 3
Ciliary dyskinesia, primary, 40 5
Ciliary dyskinesia, primary, 41 2
Ciliary dyskinesia, primary, 42 3
Ciliary dyskinesia, primary, 43 2
Ciliary dyskinesia, primary, 45 2
Ciliary dyskinesia, primary, 5 1
Ciliary Dyskinesia, Primary, 6 9
Ciliary Dyskinesia, Primary, 7 9
Ciliary Dyskinesia, Primary, 9 8
Citrin Deficiency 8
Citrullinemia Type I 4
Citrullinemia Type II 8
CK syndrome 7
CLAPO syndrome, somatic 5
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome 4
Cleft Palate X-Linked 3
Cleft palate, cardiac defects, and mental retardation 8
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 6
Cleidocranial Dysostosis 2
CLOVE syndrome, somatic 6
COACH Syndrome 14
Cockayne Syndrome Type I 8
Cockayne Syndrome, Type B 6
Cocoon Syndrome 3
CODAS syndrome 3
Coenzyme Q10 Deficiency 9
Coenzyme Q10 Deficiency, Primary, 2 5
Coenzyme Q10 deficiency, primary, 3 7
Coenzyme Q10 Deficiency, Primary, 4 5
Coenzyme Q10 Deficiency, Primary, 5 8
Coenzyme Q10 deficiency, primary, 6 4
Coenzyme Q10 Deficiency, Primary, 7 4
Coenzyme Q10 Deficiency, Primary, 8 1
Coffin-Lowry Syndrome 4
Coffin-Siris Syndrome 1 10
Coffin-Siris Syndrome 2 8
Coffin-Siris Syndrome 3 7
Coffin-Siris Syndrome 4 9
Coffin-Siris Syndrome 5 7
Coffin-Siris syndrome 6 1
Coffin-Siris syndrome 7 4
Coffin-Siris syndrome 8 2
Cognitive Impairment With Or Without Cerebellar Ataxia 7
Cohen Syndrome 13
Cohen-Gibson syndrome 2
Colchicine resistance 1
Cold-Induced Sweating Syndrome 1 1
Cold-Induced Sweating Syndrome 2 1
Cold-Induced Sweating Syndrome 3 1
Cole Disease 4
Cole-Carpenter Syndrome 1 2
Cole-Carpenter Syndrome 2 6
Coloboma Of Optic Disc 5
Coloboma, Ocular 7
Coloboma, ocular, autosomal recessive 2
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 3
Colorectal Cancer 1 2
Colorectal cancer, susceptibility to, 10 7
Colorectal cancer, susceptibility to, 12 5
Combined Cellular And Humoral Immune Defects With Granulomas 4
Combined D-2- and L-2-HydroxyGlutaric Aciduria 6
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 2
Combined Immunodeficiency, X-Linked 4
Combined Malonic And Methylmalonic Aciduria 7
Combined Oxidative Phosphorylation Deficiency 1 6
Combined Oxidative Phosphorylation Deficiency 10 3
Combined Oxidative Phosphorylation Deficiency 11 2
Combined Oxidative Phosphorylation Deficiency 12 5
Combined Oxidative Phosphorylation Deficiency 13 4
Combined oxidative phosphorylation deficiency 14 8
Combined Oxidative Phosphorylation Deficiency 15 5
Combined Oxidative Phosphorylation Deficiency 16 1
Combined Oxidative Phosphorylation Deficiency 17 2
Combined Oxidative Phosphorylation Deficiency 18 2
Combined Oxidative Phosphorylation Deficiency 19 2
Combined Oxidative Phosphorylation Deficiency 2 1
Combined Oxidative Phosphorylation Deficiency 20 1
Combined Oxidative Phosphorylation Deficiency 21 2
Combined Oxidative Phosphorylation Deficiency 22 3
Combined Oxidative Phosphorylation Deficiency 23 3
Combined Oxidative Phosphorylation Deficiency 24 4
Combined Oxidative Phosphorylation Deficiency 25 2
Combined Oxidative Phosphorylation Deficiency 26 2
Combined Oxidative Phosphorylation Deficiency 27 4
Combined oxidative phosphorylation deficiency 28 1
Combined Oxidative Phosphorylation Deficiency 3 5
Combined Oxidative Phosphorylation Deficiency 30 2
Combined oxidative phosphorylation deficiency 31 2
Combined oxidative phosphorylation deficiency 32 1
Combined oxidative phosphorylation deficiency 33 2
Combined Oxidative Phosphorylation Deficiency 34 2
Combined Oxidative Phosphorylation Deficiency 35 1
Combined oxidative phosphorylation deficiency 36 3
Combined oxidative phosphorylation deficiency 37 2
Combined oxidative phosphorylation deficiency 38 1
Combined oxidative phosphorylation deficiency 39 2
Combined Oxidative Phosphorylation Deficiency 4 2
Combined oxidative phosphorylation deficiency 40 1
Combined oxidative phosphorylation deficiency 41 2
Combined oxidative phosphorylation deficiency 42 1
Combined oxidative phosphorylation deficiency 43 1
Combined oxidative phosphorylation deficiency 44 2
Combined oxidative phosphorylation deficiency 47 1
Combined Oxidative Phosphorylation Deficiency 5 3
Combined Oxidative Phosphorylation Deficiency 6 8
Combined Oxidative Phosphorylation Deficiency 7 10
Combined Oxidative Phosphorylation Deficiency 8 4
Combined Oxidative Phosphorylation Deficiency 9 3
Combined oxidative phosphorylation defiency 46 1
Combined Saposin Deficiency 5
COMMAD syndrome 4
Common Variable Agammaglobulinemia 4
Complement Component 2 Deficiency 1
Complement Component 3 Deficiency, Autosomal Recessive 3
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 5
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 11
Cone-Rod Dystrophy 18 3
Cone-Rod Dystrophy 19 3
Cone-Rod Dystrophy 2 7
Cone-Rod Dystrophy 20 5
Cone-Rod Dystrophy 21 4
Cone-Rod Dystrophy 3 6
Cone-Rod Dystrophy 5 7
Cone-Rod Dystrophy 6 6
Cone-Rod Dystrophy 7 6
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 7
Congenital Amegakaryocytic Thrombocytopenia 7
Congenital Aniridia 10
Congenital Anomalies of Kidney and Urinary Tract 2 2
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 2
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to 5
Congenital Bilateral Absence Of The Vas Deferens 5
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 9
Congenital Cataracts, Hearing Loss, and Neurodegeneration 7
Congenital Central Hypoventilation syndrome 16
Congenital Contractural Arachnodactyly 9
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 8
Congenital Cystic Disease Of Liver 5
Congenital Disorder of Deglycosylation 5
Congenital Disorder Of Glycosylation Type 1A 7
Congenital Disorder Of Glycosylation Type 1B 4
Congenital Disorder Of Glycosylation Type 1C 5
Congenital Disorder Of Glycosylation Type 1D 5
Congenital Disorder Of Glycosylation Type 1E 9
Congenital Disorder Of Glycosylation Type 1F 5
Congenital Disorder Of Glycosylation Type 1G 5
Congenital Disorder Of Glycosylation Type 1H 7
Congenital Disorder Of Glycosylation Type 1I 7
Congenital Disorder Of Glycosylation Type 1J 4
Congenital Disorder Of Glycosylation Type 1K 4
Congenital Disorder Of Glycosylation Type 1L 4
Congenital Disorder Of Glycosylation Type 1M 6
Congenital Disorder Of Glycosylation Type 1O 6
Congenital Disorder Of Glycosylation Type 1P 3
Congenital Disorder Of Glycosylation Type 1Q 4
Congenital Disorder Of Glycosylation Type 2C 5
Congenital Disorder Of Glycosylation Type 2D 2
Congenital Disorder Of Glycosylation Type 2E 3
Congenital Disorder Of Glycosylation Type 2F 3
Congenital Disorder Of Glycosylation Type 2G 3
Congenital Disorder Of Glycosylation Type 2I 2
Congenital Disorder Of Glycosylation Type IIb 5
Congenital Disorder Of Glycosylation Type IIh 2
Congenital Disorder Of Glycosylation Type IIj 5
Congenital Disorder of Glycosylation Type IIk 3
Congenital Disorder of Glycosylation Type IIl 5
Congenital Disorder of Glycosylation Type IIm 8
Congenital Disorder of Glycosylation Type IIn 2
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 2
Congenital Disorder of Glycosylation Type Ir 2
Congenital Disorder of Glycosylation Type It 7
Congenital Disorder of Glycosylation Type Iu 7
Congenital Disorder of Glycosylation Type Iw 2
Congenital Disorder of Glycosylation Type Ix 2
Congenital Disorder of Glycosylation Type Iy 3
Congenital disorder of glycosylation with defective fucosylation 1 3
Congenital disorder of glycosylation, type 1aa 3
Congenital disorder of glycosylation, type Icc 1
Congenital disorder of glycosylation, type IIr 3
Congenital disorder of glycosylation, type IIt 2
Congenital Fiber Type Disproportion 10
Congenital Generalized Lipodystrophy Type 1 4
Congenital Generalized Lipodystrophy Type 2 5
Congenital Glucose-Galactose Malabsorption 1
Congenital heart defects and ectodermal dysplasia 2
Congenital heart defects and skeletal malformations syndrome 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 4
Congenital heart defects, hamartomas of tongue, and polysyndactyly 5
Congenital heart defects, multiple types, 4 3
Congenital heart defects, multiple types, 5 3
Congenital heart defects, multiple types, 7 1
Congenital heart defects, nonsyndromic, 2 3
Congenital Human Immunodeficiency Virus 2
Congenital Hyperammonemia, Type I 6
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 1
Congenital Ichthyosis Of Skin 4
Congenital Lactase Deficiency 1
Congenital Microvillous Atrophy 1
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 10
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B 7
Congenital Myasthenic Syndrome - RAPSN 3
Congenital Myasthenic Syndrome, Acetazolamide-Responsive 4
Congenital Myotonia, Autosomal Dominant Form 4
Congenital Secretory Diarrhea, Chloride Type 1
Congenital Secretory Diarrhea, Sodium Type 2
Congenital Stromal Corneal Dystrophy 3
Conotruncal Heart Malformations 13
Contractures, pterygia, and variable skeletal fusions syndrome 1B 4
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 8
Cornea Plana 2 3
Corneal Dystrophy And Perceptive Deafness 1
Corneal Dystrophy Fuchs Endothelial 1 4
Corneal dystrophy, Fuchs endothelial, 3 6
Corneal Dystrophy, Fuchs Endothelial, 4 1
Corneal Dystrophy, Fuchs Endothelial, 6 3
Corneal Dystrophy, Fuchs Endothelial, 8 3
Corneal Dystrophy, Posterior Polymorphous, 2 4
Corneal Dystrophy, Posterior Polymorphous, 3 2
Corneal dystrophy, posterior polymorphous, 4 3
Corneal Endothelial Dystrophy Type 2 2
Corneal Epithelial Dystrophy 2
Corneal Opacification and Other Ocular Anomalies 6
Cornelia de Lange syndrome 1 12
Cornelia de Lange syndrome 2 15
Cornelia de Lange syndrome 3 11
Cornelia de Lange syndrome 4 10
Cornelia de Lange syndrome 5 10
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 1
Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia 3
Corpus Callosum, Partial Agenesis Of, X-Linked 4
Cortical Dysplasia, Complex, With Other Brain Malformations 8
Cortical dysplasia, complex, with other brain malformations 10 4
Cortical dysplasia, complex, with other brain malformations 2 5
Cortical dysplasia, complex, with other brain malformations 3 5
Cortical Dysplasia, Complex, with other Brain Malformations 4 6
Cortical Dysplasia, Complex, with other Brain Malformations 5 4
Cortical dysplasia, complex, with other brain malformations 6 4
Cortical dysplasia, complex, with other brain malformations 9 4
Cortical Dysplasia-Focal Epilepsy Syndrome 9
Cortical Malformations, Occipital 3
Costello Syndrome 12
Coumarin Resistance 2
Cousin Syndrome 6
Cowchock Syndrome 8
Cowden Disease 21
Cowden syndrome 3 3
Cowden syndrome 5 9
Cowden syndrome 6 3
Cowden syndrome 7 3
Cowden-Like Syndrome 2
Craniodiaphyseal Dysplasia, Autosomal Dominant 3
Cranioectodermal Dysplasia 8
Cranioectodermal Dysplasia 2 9
Cranioectodermal Dysplasia 3 4
Cranioectodermal Dysplasia 4 5
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome 2
Craniofacial Deafness Hand Syndrome 6
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2
Craniofrontonasal Dysplasia 9
Craniolenticulosutural Dysplasia 3
Craniometaphyseal Dysplasia, Autosomal Dominant 2
Craniometaphyseal dysplasia, autosomal recessive 7
Craniosynostosis 3 8
Craniosynostosis 4 3
Craniosynostosis 5, Susceptibility to 3
Craniosynostosis 6 3
Craniosynostosis 7, susceptibility to 2
Craniosynostosis And Dental Anomalies 3
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 1
Craniosynostosis, Type 1 10
Craniosynostosis, Type 2 4
Creatine Phosphokinase, Elevated Serum 2
Crigler-Najjar Syndrome, Type I 1
Crigler-Najjar Syndrome, Type II 1
Crouzon Syndrome 12
Crouzon Syndrome With Acanthosis Nigricans 11
Cryohydrocytosis 1
Cryptophthalmos, unilateral or bilateral, isolated 3
Cryptorchidism, Unilateral Or Bilateral 3
Culler-Jones Syndrome 10
Currarino Syndrome 5
Curry-Jones syndrome, somatic mosaic 4
Cushing's Symphalangism 7
Cutaneous Malignant Melanoma 1 2
Cutaneous Telangiectasia and Cancer Syndrome, Familial 2
Cutis Gyrata Syndrome Of Beare And Stevenson 8
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 5
Cutis Laxa, Autosomal Dominant 8
Cutis Laxa, Autosomal Dominant 2 8
Cutis Laxa, Autosomal Dominant 3 6
Cutis Laxa, Autosomal Recessive, Type IA 9
Cutis Laxa, Autosomal Recessive, Type IB 7
Cutis Laxa, Autosomal Recessive, Type IIA 10
Cutis Laxa, Autosomal Recessive, Type IIB 7
Cutis Laxa, Autosomal Recessive, Type IIC 3
Cutis Laxa, Autosomal Recessive, Type IID 5
Cutis Laxa, Autosomal Recessive, Type IIIB 6
Cyclical Neutropenia 6
CYP2C19-Related Poor Drug Metabolism 1
Cystathioninuria 1
Cystic Fibrosis 10
Cystinosis 3
Cystinosis, Ocular Nonnephropathic 3
Cystinuria 5
Czech Dysplasia Metatarsal Type 13
D-2-Alpha Hydroxyglutaric Aciduria 6
D-2-Hydroxyglutaric Aciduria 2 5
D-Bifunctional Protein Deficiency 5
Danon Disease 12
De Sanctis-Cacchione Syndrome 4
Deafness , autosomal recessive 86 3
Deafness and myopia 2
Deafness autosomal recessive 106 1
Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) 4
Deafness, Aminoglycoside-Induced 1
Deafness, Autosomal Dominant 1 6
Deafness, Autosomal Dominant 10 5
Deafness, Autosomal Dominant 11 2
Deafness, Autosomal Dominant 12 3
Deafness, Autosomal Dominant 13 7
Deafness, Autosomal Dominant 15 2
Deafness, Autosomal Dominant 17 5
Deafness, Autosomal Dominant 20 4
Deafness, Autosomal Dominant 22 5
Deafness, Autosomal Dominant 23 3
Deafness, Autosomal Dominant 25 2
Deafness, autosomal dominant 27 2
Deafness, Autosomal Dominant 28 3
Deafness, Autosomal Dominant 2A 3
Deafness, Autosomal Dominant 2B 4
Deafness, autosomal dominant 34, with or without inflammation 4
Deafness, Autosomal Dominant 36 3
Deafness, autosomal dominant 37 4
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 1
Deafness, Autosomal Dominant 3A 2
Deafness, Autosomal Dominant 3B 2
Deafness, Autosomal Dominant 4 4
Deafness, Autosomal Dominant 40 2
Deafness, autosomal dominant 41 2
Deafness, Autosomal Dominant 44 3
Deafness, Autosomal Dominant 4B 2
Deafness, Autosomal Dominant 5 2
Deafness, Autosomal Dominant 50 1
Deafness, Autosomal Dominant 51 1
Deafness, autosomal dominant 56 2
Deafness, Autosomal Dominant 6 5
Deafness, Autosomal Dominant 64 2
Deafness, autosomal dominant 65 3
Deafness, autosomal dominant 66 1
Deafness, autosomal dominant 67 2
Deafness, autosomal dominant 68 2
Deafness, Autosomal Dominant 69 2
Deafness, autosomal dominant 7 1
Deafness, autosomal dominant 70 1
Deafness, autosomal dominant 71 3
Deafness, autosomal dominant 72 1
Deafness, autosomal dominant 73 2
Deafness, autosomal dominant 74 1
Deafness, autosomal dominant 75 2
Deafness, autosomal dominant 76 1
Deafness, Autosomal Dominant 9 3
Deafness, autosomal recessive 101 2
Deafness, autosomal recessive 102 1
Deafness, autosomal recessive 103 2
Deafness, autosomal recessive 104 2
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 2
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 2
Deafness, Autosomal Recessive 37 3
Deafness, Autosomal Recessive 39 3
Deafness, Autosomal Recessive 42 3
Deafness, autosomal recessive 44 2
Deafness, Autosomal Recessive 48 4
Deafness, Autosomal Recessive 49 2
Deafness, Autosomal Recessive 53 6
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 3
Deafness, Autosomal Recessive 67 3
Deafness, autosomal recessive 68 1
Deafness, Autosomal Recessive 7 3
Deafness, autosomal recessive 70 3
Deafness, Autosomal Recessive 74 2
Deafness, autosomal recessive 76 2
Deafness, Autosomal Recessive 77 3
Deafness, Autosomal Recessive 79 1
Deafness, Autosomal Recessive 8/10 2
Deafness, Autosomal Recessive 84 2
Deafness, autosomal recessive 84B 2
Deafness, autosomal recessive 88 2
Deafness, autosomal recessive 89 4
Deafness, Autosomal Recessive 9 3
Deafness, Autosomal Recessive 91 2
Deafness, autosomal recessive 93 2
Deafness, autosomal recessive 94 3
Deafness, autosomal recessive 97 2
Deafness, autosomal recessive 98 3
Deafness, autosomal recessive 99 1
Deafness, congenital heart defects, and posterior embryotoxon 5
Deafness, congenital, with onychodystrophy, autosomal dominant 1
Deafness, Dystonia, and Cerebral Hypomyelination 3
Deafness, X-Linked 1 4
Deafness, X-Linked 2 3
Deafness, X-Linked 4 3
Deafness, X-Linked 5 7
Deafness, X-linked 6 5
Deafness, X-linked 7 1
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase 9
Deficiency Of Alpha-Mannosidase 5
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase 4
Deficiency Of Butyryl-CoA Dehydrogenase 7
Deficiency Of Galactokinase 6
Deficiency Of Glycerate Kinase 1
Deficiency Of Guanidinoacetate Methyltransferase 7
Deficiency Of Isobutyryl-CoA Dehydrogenase 1
Deficiency Of Pyrroline-5-Carboxylate Reductase 2
Deficiency Of Ribose-5-Phosphate Isomerase 1
Deficiency Of Steroid 17-Alpha-Monooxygenase 7
Deficiency Of Transaldolase 3
Dementia Familial British 2
Dementia, Familial Danish 2
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency 6
Dent Disease 1 8
Dent Disease 2 10
Dental Anomalies and Short Stature 4
Dentatorubral Pallidoluysian Atrophy 2
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
Dermatofibrosarcoma protuberans 1
Dermatofibrosis Lenticularis Disseminata 2
Dermatopathia Pigmentosa Reticularis 3
Desanto-Shinawi syndrome 4
Desbuquois Dysplasia 2 3
Desbuquois Syndrome 6
Desmoid Disease, Hereditary 2
Desmosterolosis 7
Developmental and Epileptic Encephalopathy 4 9
Developmental Delay and Seizures with or without Movement Abnormalities 3
Developmental delay with or without dysmorphic facies and autism 2
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 2
Developmental delay, intellectual disability, obesity, and dysmorphic features 3
Diabetes Insipidus, Nephrogenic, Autosomal 4
Diabetes Insipidus, Nephrogenic, X-Linked 4
Diabetes Insipidus, Neurohypophyseal 3
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness 10
Diabetes Mellitus Type 1 3
Diabetes Mellitus, Insulin-Dependent, 10 2
Diabetes Mellitus, Insulin-Dependent, 12 2
Diabetes Mellitus, Insulin-Dependent, 2 2
Diabetes Mellitus, Insulin-Dependent, 20 2
Diabetes Mellitus, Ketosis-Prone 1
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism 3
Diabetes Mellitus, Noninsulin-Dependent 22
Diabetes Mellitus, Noninsulin-Dependent, 1 1
Diabetes mellitus, permanent neonatal 2
Diabetes mellitus, permanent neonatal 3, with or without neurologic features 3
Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis 1
Diabetes, permanent neonatal 2, with or without neurologic features 2
Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
Diamond-Blackfan Anemia 1 7
Diamond-Blackfan Anemia 10 7
Diamond-Blackfan Anemia 11 7
Diamond-Blackfan Anemia 12 8
Diamond-Blackfan anemia 13 4
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 2
Diamond-Blackfan anemia 16 1
Diamond-Blackfan anemia 17 1
Diamond-Blackfan anemia 20 1
Diamond-Blackfan Anemia 3 7
Diamond-Blackfan Anemia 4 6
Diamond-Blackfan Anemia 5 7
Diamond-Blackfan Anemia 6 7
Diamond-Blackfan Anemia 7 7
Diamond-Blackfan Anemia 8 8
Diamond-Blackfan Anemia 9 7
Diaphanospondylodysostosis 4
Diaphragmatic Hernia 3 4
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 4
Diastrophic Dysplasia 8
Dicarboxylic Aminoaciduria 1
Diencephalic-mesencephalic junction dysplasia syndrome 2 1
Diets-Jongmans syndrome 2
Digeorge Sequence 8
Digital Clubbing, Isolated Congenital 2
Dihydrolipoamide dehydrogenase deficiency 7
Dihydropteridine Reductase Deficiency 4
Dihydropyrimidinase Deficiency 2
Dihydropyrimidine Dehydrogenase Deficiency 4
Dilated Cardiomyopathy 1A 13
Dilated Cardiomyopathy 1Aa 8
Dilated Cardiomyopathy 1BB 3
Dilated Cardiomyopathy 1C 9
Dilated Cardiomyopathy 1CC 8
Dilated Cardiomyopathy 1D 5
Dilated Cardiomyopathy 1DD 5
Dilated Cardiomyopathy 1E 6
Dilated Cardiomyopathy 1Ee 7
Dilated Cardiomyopathy 1FF 4
Dilated Cardiomyopathy 1G 3
Dilated Cardiomyopathy 1I 7
Dilated Cardiomyopathy 1J 6
Dilated Cardiomyopathy 1L 6
Dilated Cardiomyopathy 1M 3
Dilated Cardiomyopathy 1N 7
Dilated Cardiomyopathy 1O 4
Dilated Cardiomyopathy 1P 7
Dilated Cardiomyopathy 1R 7
Dilated Cardiomyopathy 1S 9
Dilated Cardiomyopathy 1W 5
Dilated Cardiomyopathy 1X 7
Dilated Cardiomyopathy 1Y 7
Dilated Cardiomyopathy 1Z 3
Dilated Cardiomyopathy 2A 7
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 3
Dimethylglycine Dehydrogenase Deficiency 1
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency 6
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 6
Distichiasis-Lymphedema Syndrome 3
Dizygotic Twins 2
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin 3
Dominant Hereditary Optic Atrophy 10
Donnai Barrow Syndrome 4
DOOR syndrome 5
Dopamine Beta Hydroxylase Deficiency 1
Doyne Honeycomb Retinal Dystrophy 5
Drash Syndrome 6
Duane retraction syndrome 3 3
Duane Syndrome Type 2 3
Duane-Radial Ray Syndrome 11
Dubin-Johnson Syndrome 2
Duchenne Muscular Dystrophy 7
Dyggve-Melchior-Clausen Syndrome 4
Dyschromatosis universalis hereditaria 3 1
Dyserythropoietic Anemia, Congenital, Type Ia 6
Dyserythropoietic Anemia, Congenital, Type Ib 4
Dyserythropoietic Anemia, Congenital, Type II 6
Dyserythropoietic Anemia, Congenital, Type IV 6
Dysfibrinogenemia, congenital 3
Dyskeratosis Congenita Autosomal Dominant 8
Dyskeratosis Congenita Autosomal Recessive 6
Dyskeratosis Congenita X-Linked 11
Dyskeratosis Congenita, Autosomal Dominant 4 9
Dyskeratosis congenita, autosomal dominant 6 4
Dyskeratosis Congenita, Autosomal Dominant, 2 11
Dyskeratosis Congenita, Autosomal Dominant, 3 7
Dyskeratosis Congenita, Autosomal Recessive 6 8
Dyskeratosis Congenita, Autosomal Recessive, 2 6
Dyskeratosis Congenita, Autosomal Recessive, 3 6
Dyskinesia, familial, with facial myokymia 1
Dyskinesia, Seizures, and Intellectual Developmental Disorder 3
Dyslexia 1 2
Dyssegmental Dysplasia Silverman-Handmaker Type 2
Dystonia 1 4
Dystonia 12 8
Dystonia 16 3
Dystonia 2, torsion, autosomal recessive 1
Dystonia 24 3
Dystonia 25 3
Dystonia 27 2
Dystonia 3, Torsion, X-Linked 6
Dystonia 4, Torsion 6
Dystonia 5, Dopa-Responsive Type 7
Dystonia 6, Torsion 2
Dystonia 9 7
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 4
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 1
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 3
Ectodermal Dysplasia 3, Witkop Type 6
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 4
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 5
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 3
Ectodermal Dysplasia-Syndactyly Syndrome 1 3
Ectodermal Dysplasia/Short Stature Syndrome 5
Ectopia lentis et pupillae 2
Ectopia Lentis, Isolated Autosomal Recessive 2
Ectopia Lentis, Isolated, Autosomal Dominant 10
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 11
EDICT Syndrome 3
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 5
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 5
Ehlers-Danlos syndrome, arthrochalasia type, 2 3
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 9
Ehlers-Danlos Syndrome, Classic Like, 2 4
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 5
Ehlers-Danlos Syndrome, Musculocontractural Type 7
Ehlers-Danlos Syndrome, Musculocontractural Type 2 4
Ehlers-Danlos Syndrome, Periodontal Type, 2 3
Ehlers-Danlos Syndrome, Progeroid Type, 2 5
Ehlers-Danlos Syndrome, Type 1 12
Ehlers-Danlos Syndrome, Type 2 6
Ehlers-Danlos Syndrome, Type 3 1
Ehlers-Danlos Syndrome, Type 4 8
Ehlers-Danlos Syndrome, Type VIIA and VIIB 11
Ehlers-Danlos Syndrome, Type VIIC 4
Ehlers-Danlos Syndrome, Type VIII 4
Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency 4
Eiken Skeletal Dysplasia 2
Elliptocytosis 1 2
Elliptocytosis 2 4
Elliptocytosis 3 2
Ellis-van Creveld Syndrome 16
Elsahy-Waters syndrome 4
Emery-Dreifuss Muscular Dystrophy 1, X-Linked 8
Emery-Dreifuss muscular dystrophy 3, AR 8
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 5
Emery-Dreifuss Muscular Dystrophy 7, AD 3
Emery-Dreifuss muscular dystrophy-6 5
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 3
Encephalocraniocutaneous lipomatosis 3
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1
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 2
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 8
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations 7
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 3
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 2
Encephalopathy, progressive, with amyotrophy and optic atrophy 2
Encephalopathy, progressive, with or without lipodystrophy 4
Endocrine-Cerebroosteodysplasia 6
Endometrial Cancer 7
Endplate Acetylcholinesterase Deficiency 4
Enhanced S-Cone Syndrome 2
Enlarged Vestibular Aqueduct Syndrome 8
Enterokinase Deficiency 1
Epidermal Nevus 11
Epidermodysplasia Verruciformis 1
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy 5
Epidermolysis Bullosa Herpetiformis, Dowling-Meara 4
Epidermolysis Bullosa Pruriginosa 3
Epidermolysis Bullosa Simplex 2
Epidermolysis Bullosa Simplex With Mottled Pigmentation 2
Epidermolysis bullosa simplex with nail dystrophy 4
Epidermolysis Bullosa Simplex With Pyloric Atresia 4
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 5
Epidermolysis Bullosa With Pyloric Atresia 6
Epidermolysis Bullosa, Lethal Acantholytic 5
Epidermolysis Bullosa, Pretibial 3
Epidermolytic Hyperkeratosis 5
Epilepsy Juvenile Absence 3
Epilepsy, Childhood Absence 2 5
Epilepsy, Childhood Absence 5 7
Epilepsy, Childhood Absence 6 2
Epilepsy, Early-Onset, Vitamin B6-Dependent 3
Epilepsy, early-onset, with or without developmental delay 1
Epilepsy, familial focal, with variable foci 6
Epilepsy, Familial Focal, with Variable Foci 2 4
Epilepsy, Familial Focal, with Variable Foci 3 4
Epilepsy, familial focal, with variable foci 4 5
Epilepsy, Familial Temporal Lobe, 5 3
Epilepsy, Familial Temporal Lobe, 7 6
Epilepsy, focal, with speech disorder and with or without mental retardation 6
Epilepsy, Hearing Loss, and Mental Retardation Syndrome 5
Epilepsy, Idiopathic Generalized 10 3
Epilepsy, Idiopathic Generalized 8 3
Epilepsy, Idiopathic Generalized 9 3
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 3
Epilepsy, idiopathic generalized, susceptibility to, 14 4
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 6
Epilepsy, Juvenile Myoclonic 5 6
Epilepsy, juvenile myoclonic, susceptibility to, 10 3
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 5
Epilepsy, Myoclonic, Familial Adult, 5 3
Epilepsy, nocturnal frontal lobe, 5 6
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 7
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure 6
Epilepsy, Progressive Myoclonic 6 5
Epilepsy, Progressive Myoclonic 7 3
Epilepsy, Progressive Myoclonic, 8 3
Epilepsy, Progressive Myoclonic, 9 2
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp 5
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders 5
Epileptic encephalopathy, childhood-onset 7
Epileptic encephalopathy, early infantile, 1 10
Epileptic Encephalopathy, Early Infantile, 10 6
Epileptic Encephalopathy, Early Infantile, 11 9
Epileptic Encephalopathy, Early Infantile, 12 5
Epileptic Encephalopathy, Early Infantile, 13 9
Epileptic encephalopathy, early infantile, 14 6
Epileptic Encephalopathy, Early Infantile, 15 5
Epileptic Encephalopathy, Early Infantile, 16 6
Epileptic Encephalopathy, Early Infantile, 17 7
Epileptic encephalopathy, early infantile, 18 6
Epileptic Encephalopathy, Early Infantile, 19 7
Epileptic Encephalopathy, Early Infantile, 2 9
Epileptic Encephalopathy, Early Infantile, 21 3
Epileptic Encephalopathy, Early Infantile, 23 4
Epileptic Encephalopathy, Early Infantile, 24 7
Epileptic Encephalopathy, Early Infantile, 25 6
Epileptic Encephalopathy, Early Infantile, 26 7
Epileptic Encephalopathy, Early Infantile, 27 9
Epileptic Encephalopathy, Early Infantile, 28 6
Epileptic Encephalopathy, Early Infantile, 3 5
Epileptic Encephalopathy, Early Infantile, 31 5
Epileptic Encephalopathy, Early Infantile, 32 6
Epileptic Encephalopathy, Early Infantile, 33 4
Epileptic Encephalopathy, Early Infantile, 34 4
Epileptic Encephalopathy, Early Infantile, 35 4
Epileptic Encephalopathy, Early Infantile, 36 8
Epileptic Encephalopathy, Early Infantile, 37 4
Epileptic Encephalopathy, Early Infantile, 38 3
Epileptic Encephalopathy, Early Infantile, 39 5
Epileptic Encephalopathy, Early Infantile, 40 2
Epileptic Encephalopathy, Early Infantile, 41 3
Epileptic Encephalopathy, Early Infantile, 42 5
Epileptic Encephalopathy, Early Infantile, 43 7
Epileptic Encephalopathy, Early Infantile, 44 4
Epileptic Encephalopathy, Early Infantile, 45 4
Epileptic Encephalopathy, Early Infantile, 46 5
Epileptic Encephalopathy, Early Infantile, 47 4
Epileptic Encephalopathy, Early Infantile, 48 4
Epileptic Encephalopathy, Early Infantile, 49 4
Epileptic Encephalopathy, Early Infantile, 5 7
Epileptic Encephalopathy, Early Infantile, 50 4
Epileptic Encephalopathy, Early Infantile, 51 5
Epileptic encephalopathy, early infantile, 52 7
Epileptic Encephalopathy, Early Infantile, 53 6
Epileptic Encephalopathy, Early Infantile, 54 7
Epileptic Encephalopathy, Early Infantile, 55 5
Epileptic Encephalopathy, Early Infantile, 56 5
Epileptic encephalopathy, early infantile, 57 3
Epileptic Encephalopathy, Early Infantile, 58 4
Epileptic Encephalopathy, Early Infantile, 59 4
Epileptic encephalopathy, early infantile, 60 4
Epileptic encephalopathy, early infantile, 61 2
Epileptic Encephalopathy, Early Infantile, 62 6
Epileptic encephalopathy, early infantile, 63 3
Epileptic encephalopathy, early infantile, 64 3
Epileptic encephalopathy, early infantile, 65 4
Epileptic encephalopathy, early infantile, 66 3
Epileptic encephalopathy, early infantile, 67 4
Epileptic encephalopathy, early infantile, 68 2
Epileptic encephalopathy, early infantile, 69 2
Epileptic Encephalopathy, Early Infantile, 7 8
Epileptic encephalopathy, early infantile, 70 3
Epileptic encephalopathy, early infantile, 71 2
Epileptic encephalopathy, early infantile, 72 2
Epileptic encephalopathy, early infantile, 73 2
Epileptic encephalopathy, early infantile, 74 5
Epileptic encephalopathy, early infantile, 75 2
Epileptic encephalopathy, early infantile, 76 4
Epileptic encephalopathy, early infantile, 77 4
Epileptic Encephalopathy, Early Infantile, 8 8
Epileptic encephalopathy, early infantile, 80 2
Epileptic encephalopathy, early infantile, 81 3
Epileptic encephalopathy, early infantile, 83 1
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects 4
Epileptic Encephalopathy, Early Infantile, 9 7
Epileptic Encephalopathy, Infantile or Early Childhood, 1 3
Epileptic Encephalopathy, Infantile or Early Childhood, 2 4
Epileptic Encephalopathy, Infantile or Early Childhood, 3 4
Epiphyseal chondrodysplasia, Miura type 4
Epiphyseal dysplasia, multiple, 7 6
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness 12
Episodic Ataxia Type 1 5
Episodic Ataxia Type 2 5
Episodic Ataxia, Type 5 3
Episodic Ataxia, Type 6 1
Episodic ataxia, type 9 1
Episodic Kinesigenic Dyskinesia 1 7
Episodic Pain Syndrome, Familial, 2 4
Episodic Pain Syndrome, Familial, 3 4
Epithelial recurrent erosion dystrophy 1
Epithelial-Myoepithelial Carcinoma 2
Epstein Syndrome 3
Erythrocyte Lactate Transporter Defect 2
Erythrocytosis, 7 2
Erythrocytosis, Familial, 2 1
Erythroderma, Ichthyosiform, Congenital Reticular 4
Erythrokeratodermia Variabilis Et Progressiva 4
Erythrokeratodermia variabilis et progressiva 3 4
Erythrokeratodermia variabilis et progressiva 5 1
Erythrokeratodermia veriabilis et progressiva 6 1
Erythropoietic Protoporphyria 3
Escobar Syndrome 6
Esophageal Cancer 5
Essential Hypertension 2
Essential Thrombocythemia 2
Essential tremor, hereditary, 4 1
Essential tremor, hereditary, 5 1
Ethylmalonic Encephalopathy 5
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 3
Even-plus syndrome 2
Exercise intolerance, riboflavin-responsive 2
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis 1
Exostoses, Multiple, Type I 5
Exostoses, Multiple, Type II 6
Exudative Vitreoretinopathy 2, X-Linked 11
Exudative Vitreoretinopathy 4 7
Exudative Vitreoretinopathy 5 4
Exudative Vitreoretinopathy 6 4
Exudative Vitreoretinopathy 7 6
Fabry's Disease 11
Facial Paresis, Hereditary Congenital, 3 1
Facioscapulohumeral Muscular Dystrophy 2 6
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 4
Factor VII Deficiency 4
Factor X Deficiency 5
Factor XII Deficiency Disease 2
Factor XIII, A Subunit, Deficiency Of 6
Factor XIII, B Subunit, Deficiency Of 4
Failure Of Tooth Eruption, Primary 1
Fallot Tetralogy 22
Familial Adenomatous Polyposis 3 3
Familial Adenomatous Polyposis 4 2
Familial Amyloid Nephropathy With Urticaria And Deafness 8
Familial Benign Hypercalcemia 7
Familial Benign Pemphigus 1
Familial Cancer Of Breast 25
Familial Cold Autoinflammatory Syndrome 2 4
Familial cold autoinflammatory syndrome 3 2
Familial cold autoinflammatory syndrome 4 2
Familial Cold Urticaria 7
Familial Colorectal Cancer 18
Familial digital arthropathy with brachydactyly 5
Familial Dysautonomia 6
Familial Encephalopathy With Neuroserpin Inclusion Bodies 3
Familial Erythrocytosis, 1 3
Familial Exudative Vitreoretinopathy 6
Familial Gynecomastia, Due To Increased Aromatase Activity 5
Familial Hemiplegic Migraine Type 1 7
Familial Hemiplegic Migraine Type 2 6
Familial Hemiplegic Migraine Type 3 7
Familial Hypercholesterolemia 5
Familial Hypertriglyceridemia 1
Familial Hypertrophic Cardiomyopathy 1 12
Familial Hypertrophic Cardiomyopathy 10 6
Familial Hypertrophic Cardiomyopathy 11 5
Familial Hypertrophic Cardiomyopathy 12 8
Familial Hypertrophic Cardiomyopathy 13 8
Familial Hypertrophic Cardiomyopathy 14 10
Familial Hypertrophic Cardiomyopathy 15 6
Familial Hypertrophic Cardiomyopathy 16 4
Familial Hypertrophic Cardiomyopathy 18 9
Familial Hypertrophic Cardiomyopathy 2 7
Familial Hypertrophic Cardiomyopathy 20 7
Familial Hypertrophic Cardiomyopathy 3 5
Familial Hypertrophic Cardiomyopathy 4 7
Familial Hypertrophic Cardiomyopathy 6 8
Familial Hypertrophic Cardiomyopathy 7 8
Familial Hypertrophic Cardiomyopathy 8 6
Familial Hypertrophic Cardiomyopathy 9 6
Familial Hypoalphalipoproteinemia 2
Familial Hypobetalipoproteinemia 2
Familial Hypokalemia-Hypomagnesemia 3
Familial Infantile Myasthenia 5
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 3
Familial Porphyria Cutanea Tarda 3
Familial Renal Hypouricemia 1
Familial Type 5 Hyperlipoproteinemia 2
Familial Visceral Amyloidosis, Ostertag Type 2
Fanconi Anemia, Complementation Group A 10
Fanconi Anemia, Complementation Group B 9
Fanconi Anemia, Complementation Group C 11
Fanconi Anemia, Complementation Group D1 10
Fanconi Anemia, Complementation Group D2 10
Fanconi Anemia, Complementation Group E 10
Fanconi Anemia, Complementation Group F 11
Fanconi Anemia, Complementation Group G 10
Fanconi Anemia, Complementation Group I 9
Fanconi Anemia, Complementation Group J 13
Fanconi Anemia, Complementation Group L 10
Fanconi Anemia, Complementation Group M 2
Fanconi Anemia, Complementation Group N 14
Fanconi Anemia, Complementation Group O 10
Fanconi Anemia, Complementation Group P 11
Fanconi anemia, Complementation Group Q 10
Fanconi Anemia, Complementation Group R 7
Fanconi Anemia, Complementation Group S 6
Fanconi Anemia, Complementation Group T 6
Fanconi Anemia, Complementation Group U 6
Fanconi Anemia, Complementation Group V 5
Fanconi Anemia, Complementation Group W 5
Fanconi renotubular syndrome 1 3
Fanconi Renotubular Syndrome 2 5
Fanconi renotubular syndrome 3 2
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 4
Fanconi renotubular syndrome 5 2
Fanconi-Bickel Syndrome 13
Farber's Lipogranulomatosis 5
Fasting Plasma Glucose Level Quantitative Trait Locus 5 1
Fazio-Londe Disease 5
Febrile seizures, familial, 11 3
Febrile Seizures, Familial, 4 3
Fechtner Syndrome 3
Feingold Syndrome 1 9
Feingold Syndrome 2 5
Fetal Akinesia Deformation Sequence 8
Fetal akinesia deformation sequence 4 1
Fetal Hemoglobin Quantitative Trait Locus 6 4
Fg Syndrome 16
FG Syndrome 2 16
FG Syndrome 4 9
Fibrochondrogenesis 8
Fibrochondrogenesis 2 8
Fibrodysplasia Ossificans Progressiva 4
Fibromatosis, gingival, 5 2
Fibrosis Of Extraocular Muscles, Congenital, 1 2
Fibrosis Of Extraocular Muscles, Congenital, 2 3
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement 4
Fibrosis of extraocular muscles, congenital, 5 1
Fibular Hypoplasia And Complex Brachydactyly 7
Filippi syndrome 5
FILS syndrome 3
Finnish Congenital Nephrotic Syndrome 2
Fish-Eye Disease 3
Fleck Corneal Dystrophy 3
Fleck Retina, Familial Benign 6
Floating-Harbor Syndrome 9
Focal Cortical Dysplasia Of Taylor 3
Focal Dermal Hypoplasia 7
Focal facial dermal dysplasia 3, Setleis type 2
Focal Segmental Glomerulosclerosis 1 3
Focal Segmental Glomerulosclerosis 2 4
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 6
Follicle-Stimulating Hormone Deficiency, Isolated 7
Fontaine progeroid syndrome 3
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 4
Foveal Hypoplasia And Presenile Cataract Syndrome 8
Fragile X Syndrome 4
Fragile X Tremor/Ataxia Syndrome 4
Frank Ter Haar Syndrome 7
Fraser Syndrome 14
Fraser Syndrome 2 12
Fraser Syndrome 3 9
Frasier Syndrome 6
Freeman-Sheldon Syndrome 8
Frontometaphyseal Dysplasia 14
Frontometaphyseal Dysplasia 2 2
Frontonasal Dysplasia 6
Frontonasal Dysplasia 2 4
Frontonasal Dysplasia 3 3
Frontotemporal Dementia 7
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 6
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 8
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 5
Frontotemporal Dementia, Ubiquitin-Positive 7
Fructose-Biphosphatase Deficiency 4
Fucosidosis 6
Fuhrmann Syndrome 4
Fukuyama Congenital Muscular Dystrophy 13
Fumarase Deficiency 7
Gabriele-de Vries syndrome 1
Galactosemia 10
Galactosialidosis 9
Galactosylceramide Beta-Galactosidase Deficiency 8
Galloway-Mowat Syndrome 5
Galloway-Mowat Syndrome 2, X-linked 4
Galloway-Mowat Syndrome 3 6
Galloway-Mowat Syndrome 4 4
Galloway-Mowat Syndrome 5 4
Galloway-Mowat syndrome 6 5
Galloway-Mowat syndrome 7 3
Galloway-Mowat syndrome 8 2
Gamma Aminobutyric Acid Transaminase Deficiency 4
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To 1
Ganglioside Sialidase Deficiency 4
Gangliosidosis GM1 Type 3 5
GAPO Syndrome 2
Gastric Lymphoma 1
Gastrointestinal defects and immunodeficiency syndrome 2
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial 1
Gastrointestinal Stromal Tumors 4
GATA-1-Related Thrombocytopenia With Dyserythropoiesis 11
Gaucher Disease, Atypical, Due To Saposin C Deficiency 3
Gaucher Disease, Perinatal Lethal 6
Gaucher Disease, Type 1 5
Gaucher Disease, Type II 5
Gaucher Disease, Type III 4
Gaucher Disease, Type IIIc 5
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2
Gaze palsy, familial horizontal, with progressive scoliosis, 2 1
Geleophysic Dysplasia 5
Geleophysic Dysplasia 2 11
Geleophysic dysplasia 3 1
Generalized Dominant Dystrophic Epidermolysis Bullosa 3
Generalized Epilepsy And Paroxysmal Dyskinesia 4
Generalized Epilepsy With Febrile Seizures Plus, Type 1 8
Generalized epilepsy with febrile seizures plus, type 10 6
Generalized Epilepsy With Febrile Seizures Plus, Type 2 8
Generalized Epilepsy With Febrile Seizures Plus, Type 3 2
Generalized Epilepsy With Febrile Seizures Plus, Type 7 6
Generalized Epilepsy with Febrile Seizures Plus, Type 9 6
Genitopatellar Syndrome 7
Genitourinary and/or/brain malformation syndrome 2
Geroderma Osteodysplasticum 5
Ghosal Syndrome 2
Giant Axonal Neuropathy 6
Gilbert Syndrome 1
Gillessen-Kaesbach-Nishimura syndrome 3
Glanzmann's Thrombasthenia 11
Glass Syndrome 6
Glaucoma 1, open angle, F 1
Glaucoma 1, Open Angle, G 3
Glaucoma 1, Open Angle, O 2
Glaucoma 3, Primary Congenital, D 9
Glaucoma 3, primary congenital, E 3
Glaucoma, Congenital 5
Glaucoma, Normal Tension, Susceptibility To 8
Glaucoma, primary closed-angle 1
Glioma Susceptibility 1 4
Glioma Susceptibility 2 5
Glioma Susceptibility 3 6
Glioma Susceptibility 9 4
Global developmental delay with or without impaired intellectual development 1
Global developmental delay, progressive ataxia, and elevated glutamine 2
Glomerulopathy With Fibronectin Deposits 2 2
Glomerulosclerosis, Focal Segmental, 7 6
GLOW syndrome, somatic mosaic 2
Glucocorticoid Deficiency 2 1
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 2
Glucocorticoid deficiency 5 2
Glucocorticoid Deficiency With Achalasia 1
Glucocorticoid Resistance 3
Glucocorticoid-Remediable Aldosteronism 1
Glut1 Deficiency Syndrome 1 7
Glut1 Deficiency Syndrome 2 7
Glutamate Formiminotransferase Deficiency 2
Glutamine Deficiency, Congenital 3
Glutaric Aciduria, Type 1 6
Glutaric Aciduria, Type 2 18
Glutathione Peroxidase Deficiency 1
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To 3
Gluthathione Synthetase Deficiency 3
Glycerol Kinase Deficiency 5
Glycine Encephalopathy 8
Glycine encephalopathy with normal serum glycine 1
Glycine N-Methyltransferase Deficiency 3
Glycogen Storage Disease 0, Liver 5
Glycogen Storage Disease 0, Muscle 3
Glycogen Storage Disease Of Heart, Lethal Congenital 8
Glycogen Storage Disease Type Ia 5
Glycogen Storage Disease Type Ib 8
Glycogen Storage Disease Type Ic 7
Glycogen Storage Disease Type II 14
Glycogen Storage Disease Type III 7
Glycogen Storage Disease Type IV 9
Glycogen Storage Disease Type IXa1 5
Glycogen Storage Disease Type IXc 4
Glycogen Storage Disease Type IXd 4
Glycogen Storage Disease Type V 5
Glycogen Storage Disease Type VI 4
Glycogen Storage Disease Type VII 6
Glycogen Storage Disease Type X 3
Glycogen Storage Disease Type XI 2
Glycogen Storage Disease Type XII 4
Glycogen Storage Disease Type XIII 2
Glycogen Storage Disease Type XV 3
Glycogen Storage DiseaseType IXb 5
Glycosylphosphatidylinositol biosynthesis defect 11 3
Glycosylphosphatidylinositol biosynthesis defect 15 5
Glycosylphosphatidylinositol biosynthesis defect 16 2
Glycosylphosphatidylinositol biosynthesis defect 17 2
Glycosylphosphatidylinositol biosynthesis defect 18 3
Glycosylphosphatidylinositol biosynthesis defect 21 1
Glycosylphosphatidylinositol Deficiency 1
Gnathodiaphyseal Dysplasia 3
GNE Myopathy 7
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors 6
Goldberg-Shprintzen Megacolon Syndrome 5
Gonadotropin-Independent Familial Sexual Precocity 6
Gorlin Syndrome 10
Gout, HPRT-Related 3
Gracile Bone Dysplasia 5
GRACILE Syndrome 6
Graft-Versus-Host Disease, Susceptibility To 1
Grange syndrome 3
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 6
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial 4
Gray Platelet Syndrome 4
Grebe Syndrome 7
Greenberg Dysplasia 5
Greig Cephalopolysyndactyly Syndrome 10
Griscelli Syndrome Type 1 7
Griscelli Syndrome Type 2 8
Griscelli Syndrome Type 3 4
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 restriction, severe, with distinctive facies 2
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 3
Gtp Cyclohydrolase I Deficiency 3
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia 5
Haim-Munk Syndrome 2
Hajdu-Cheney Syndrome 10
Hamamy syndrome 1
Hand Foot Uterus Syndrome 7
Harlequin Ichthyosis 6
Hartnup Disease 1
Hartsfield syndrome 12
Hashimoto Thyroiditis 2
Hawkinsinuria 3
Hay-Wells Syndrome 10
Heart-Hand Syndrome, Slovenian Type 7
Heimler syndrome 1 10
Heimler syndrome 2 8
Heinz Body Anemias 3
Helicobacter Pylori Infection, Susceptibility To 1
Helsmoortel-van der Aa Syndrome 6
Hemangioma, Capillary Infantile 5
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 5
Hemolytic anemia due to G6PD deficiency 4
Hemolytic anemia due to glutathione reductase deficiency 1
Hemolytic Anemia Due To Hexokinase Deficiency 2
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency 3
Hemolytic anemia, congenital, X-linked 1
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency 4
Hemolytic uremic syndrome, atypical, susceptibility to, 2 1
Hemophagocytic Lymphohistiocytosis, Familial, 2 5
Hemophagocytic Lymphohistiocytosis, Familial, 3 6
Hemophagocytic Lymphohistiocytosis, Familial, 4 5
Hemophagocytic lymphohistiocytosis, Familial, 5 6
Hemophilia A, Congenital 2
Hemophilia A, Congenital 4
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 7
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 5
Hennekam lymphangiectasia-lymphedema syndrome 3 1
Hennekam Syndrome 10
Hepatic Adenomas, Familial 2
Hepatic Venoocclusive Disease With Immunodeficiency 1
Hepatitis B Virus, Susceptibility To 3
Hepatitis C Virus, Susceptibility To 3
Hereditary Angioneurotic Edema 3
Hereditary Coproporphyria 5
Hereditary Diffuse Gastric Cancer 10
Hereditary Factor IX Deficiency Disease 4
Hereditary Factor XI Deficiency Disease 4
Hereditary Fructose Intolerance 5
Hereditary Gingival Fibromatosis 4
Hereditary Hemorrhagic Telangiectasia Type 2 4
Hereditary Insensitivity To Pain With Anhidrosis 5
Hereditary Leiomyomatosis And Renal Cell Cancer 8
Hereditary Liability To Pressure Palsies 1
Hereditary Lymphedema Type 1C 3
Hereditary Lymphedema Type I 6
Hereditary Mixed Polyposis Syndrome 2 4
Hereditary Myopathy With Early Respiratory Failure 6
Hereditary Neutrophilia 2
Hereditary Nonpolyposis Colorectal Cancer Type 4 11
Hereditary Nonpolyposis Colorectal Cancer Type 5 13
Hereditary Nonpolyposis Colorectal Cancer Type 6 2
Hereditary Nonpolyposis Colorectal Cancer Type 7 3
Hereditary Nonpolyposis Colorectal Cancer Type 8 14
Hereditary Pyropoikilocytosis 3
Hereditary Sideroblastic Anemia 3
Hereditary Spherocytosis 5
Hermansky-Pudlak Syndrome 1 10
Hermansky-Pudlak Syndrome 10 6
Hermansky-Pudlak Syndrome 2 12
Hermansky-Pudlak Syndrome 3 11
Hermansky-Pudlak Syndrome 4 10
Hermansky-Pudlak Syndrome 5 9
Hermansky-Pudlak Syndrome 6 10
Hermansky-Pudlak Syndrome 7 11
Hermansky-Pudlak Syndrome 8 10
Hermansky-Pudlak Syndrome 9 8
Herpes Simplex Encephalitis 1 1
Herpes Simplex Encephalitis 2 2
Heterotaxy, Visceral, 2, Autosomal 1
Heterotaxy, Visceral, 4, Autosomal 5
Heterotaxy, Visceral, 5 8
Heterotaxy, visceral, 6, autosomal recessive 3
Heterotaxy, Visceral, 7, Autosomal 3
Heterotaxy, visceral, 8, autosomal 2
Heterotaxy, Visceral, X-Linked 6
Heterotopia, Periventricular, Autosomal Recessive 6
Heterotopia, Periventricular, Ehlers-Danlos Variant 1
Heyn-Sproul-Jackson syndrome 4
Hidradenitis Suppurativa, Familial 1
Hidrotic Ectodermal Dysplasia Syndrome 3
Hip dysplasia, Beukes type 1
Hirschsprung Disease 1 6
Hirschsprung Disease 2 8
Hirschsprung Disease 3 2
Hirschsprung Disease 4 9
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction 3
Histidinemia 1
Histiocytosis-lymphadenopathy plus syndrome 4
Holoprosencephaly 11 7
Holoprosencephaly 12, with or without pancreatic agenesis 1
Holoprosencephaly 13, X-linked 3
Holoprosencephaly 2 6
Holoprosencephaly 3 8
Holoprosencephaly 4 7
Holoprosencephaly 5 5
Holoprosencephaly 7 9
Holoprosencephaly 9 11
Holoprosencephaly Sequence 2
Holt-Oram Syndrome 7
Homocystinuria Due To Cbs Deficiency 11
Homocystinuria due to MTHFR Deficiency 8
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblE Complementation Type 6
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type 6
Humerofemoral hypoplasia with radiotibial ray deficiency 1
Huntington Disease 1
Huriez syndrome 1
Hurler Syndrome 5
Hutchinson-Gilford Syndrome 7
Hyaline Fibromatosis Syndrome 3
Hydrocephalus, Nonsyndromic, 1 4
Hydrocephalus, Nonsyndromic, 3 3
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 4
Hydrolethalus Syndrome 2 11
Hydrops, lactic acidosis, and sideroblastic anemia 3
Hydroxykynureninuria 1
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 2
Hyper-IgE recurrent infection syndrome 4, autosomal recessive 1
Hyperaldosteronism, familial, type II 4
Hyperaldosteronism, Familial, Type III 3
Hyperaldosteronism, Familial, Type IV 5
Hyperalphalipoproteinemia 1
Hyperalphalipoproteinemia 2 1
Hyperammonemia due to carbonic anhydrase VA deficiency 4
Hyperammonemia, Type III 4
Hypercalcemia, infantile, 2 3
Hypercalciuria, Absorptive, 2 2
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 4
Hypercholanemia, Familial 3
Hypercholesterolemia, Autosomal Dominant, 3 3
Hypercholesterolemia, Autosomal Dominant, Type B 4
Hypercholesterolemia, Autosomal Recessive 3
Hyperekplexia 2 1
Hyperekplexia 4 1
Hyperekplexia Hereditary 3
Hyperferritinemia Cataract Syndrome 5
Hyperglycinuria 1
Hyperimmunoglobulin D With Periodic Fever 9
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 6
Hyperimmunoglobulin E Syndrome 8
Hyperinsulinemic Hypoglycemia Familial 5 3
Hyperinsulinemic Hypoglycemia, Familial 3 4
Hyperinsulinemic Hypoglycemia, Familial 6 8
Hyperinsulinemic Hypoglycemia, Familial, 1 6
Hyperinsulinemic Hypoglycemia, Familial, 2 5
Hyperinsulinemic Hypoglycemia, Familial, 4 8
Hyperinsulinemic Hypoglycemia, Familial, 7 4
Hyperkalemic Periodic Paralysis; HYPP 4
Hyperlipidemia, Familial Combined 3
Hyperlipoproteinemia, Type 1D 2
Hyperlipoproteinemia, Type I 4
Hyperlipoproteinemia, Type III 1
Hyperlysinemia 1
Hypermanganesemia with dystonia 1 1
Hypermanganesemia with dystonia 2 1
Hypermethioninemia Due To Adenosine Kinase Deficiency 4
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency 5
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 4
Hyperparathyroidism 1 4
Hyperparathyroidism 2 4
Hyperparathyroidism 4 1
Hyperparathyroidism, Neonatal Severe Primary 6
Hyperparathyroidism, transient neonatal 2
Hyperphenylalaninemia, Mild, Non-BH4-Deficient 4
Hyperphosphatasemia Tarda 3
Hyperphosphatasemia With Bone Disease 3
Hyperphosphatasia With Mental Retardation 7
Hyperphosphatasia with mental retardation syndrome 2 7
Hyperphosphatasia with mental retardation syndrome 3 2
Hyperphosphatasia with mental retardation syndrome 4 3
Hyperphosphatasia with Mental Retardation Syndrome 6 3
Hyperpigmentation with or without Hypopigmentation 3
Hyperproinsulinemia 2
Hyperprolactinemia 2
Hypertelorism, Teebi type 4
Hypertension and Brachydactyly Syndrome 4
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 3
Hyperthyroidism, Familial Gestational 4
Hyperthyroidism, Nonautoimmune 4
Hypertrichotic Osteochondrodysplasia 6
Hypertriglyceridemia, transient infantile 1
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 9
Hypocalcemia, autosomal dominant 2 5
Hypocalciuric Hypercalcemia, Familial, Type III 5
Hypocalciuric hypercalcemia, type II 5
Hypochondroplasia 12
Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica 5
Hypogonadotropic Hypogonadism 10 with or without Anosmia 7
Hypogonadotropic Hypogonadism 11 with or without Anosmia 8
Hypogonadotropic Hypogonadism 12 with or without Anosmia 8
Hypogonadotropic Hypogonadism 13 with or without Anosmia 8
Hypogonadotropic Hypogonadism 14 with or without Anosmia 9
Hypogonadotropic Hypogonadism 15 with or without Anosmia 7
Hypogonadotropic Hypogonadism 16 with or without Anosmia 9
Hypogonadotropic Hypogonadism 17 with or without Anosmia 6
Hypogonadotropic Hypogonadism 18 with or without Anosmia 9
Hypogonadotropic Hypogonadism 19 with or without Anosmia 5
Hypogonadotropic Hypogonadism 20 with or without Anosmia 6
Hypogonadotropic Hypogonadism 21 with Anosmia 5
Hypogonadotropic Hypogonadism 22, with or without Anosmia 8
Hypogonadotropic Hypogonadism 7 with or without Anosmia 11
Hypogonadotropic Hypogonadism 8 with or without Anosmia 8
Hypogonadotropic Hypogonadism 9 with or without Anosmia 8
Hypohidrotic Ectodermal Dysplasia With Immune Deficiency 4
Hypohidrotic X-Linked Ectodermal Dysplasia 4
Hypokalemic Periodic Paralysis 3
Hypokalemic Periodic Paralysis, Type 2 3
Hypomagnesemia 1, Intestinal 2
Hypomagnesemia 2, Renal 3
Hypomagnesemia 4, Renal 2
Hypomagnesemia 5, Renal, With Ocular Involvement 5
Hypomagnesemia 6, Renal 2
Hypomagnesemia, seizures, and mental retardation 1
Hypomagnesemia, seizures, and mental retardation 2 3
Hypomyelinating neuropathy, congenital, 3 3
Hypomyelination And Congenital Cataract 6
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 4
Hypoparathyroidism Retardation Dysmorphism Syndrome 6
Hypoparathyroidism, Familial Isolated 5
Hypoparathyroidism, X-linked 1
Hypophosphatemic Rickets, Autosomal Dominant 5
Hypophosphatemic Rickets, Autosomal Recessive, 2 4
Hypophosphatemic Rickets, X-Linked Dominant 6
Hypophosphatemic Rickets, X-Linked Recessive 5
Hypophosphatemic Vitamin D Refractory Rickets 4
Hypopigmentation, organomegaly, and delayed myelination and development 2
Hypoplastic Left Heart Syndrome 5
Hypoplastic Left Heart Syndrome 2 8
Hypoplastic or Aplastic Tibia with Polydactyly 4
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 3
Hypoproteinemia, Hypercatabolic 1
Hypospadias 1, X-Linked 2
Hypospadias 2, X-Linked 5
Hypospadias 3, Autosomal 2
Hypothalamic Hamartomas 5
Hypothryoidism, Congenital, Nongoitrous 4 4
Hypothyroidism, Central, and Testicular Enlargement 3
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis 4
Hypothyroidism, congenital, nongoitrous, 1 2
Hypothyroidism, Congenital, Nongoitrous, 5 7
Hypothyroidism, Congenital, Nongoitrous, 6 4
Hypothyroidism, congenital, nongoitrous, 7 1
Hypotonia, ataxia, and delayed development syndrome 3
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 1
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 6
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 7
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 4
Hypotonia-Cystinuria Syndrome 1
Hypotrichosis 6 1
Hypotrichosis-Lymphedema-Telangiectasia Syndrome 3
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
I Cell Disease 6
Ichthyosiform Erythroderma, Nonbullous Congenital 4
Ichthyosis Bullosa Of Siemens 4
Ichthyosis Follicularis Atrichia Photophobia Syndrome 8
Ichthyosis Histrix, Curth-Macklin Type 3
Ichthyosis Lamellar 3 3
Ichthyosis Prematurity Syndrome 2
Ichthyosis Vulgaris 1
Ichthyosis, congenital, autosomal recessive 10 5
Ichthyosis, Congenital, Autosomal Recessive 11 2
Ichthyosis, congenital, autosomal recessive 3 4
Ichthyosis, congenital, autosomal recessive 4A 6
Ichthyosis, Congenital, Autosomal Recessive 8 2
Ichthyosis, Congenital, Autosomal Recessive 9 3
Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 4
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 5
Ichthyosis, Hystrix-Like, With Deafness 1
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis 2
Ichthyosis, spastic quadriplegia, and mental retardation 1
Idiopathic Fibrosing Alveolitis, Chronic Form 3
Idiopathic Hypercalcemia Of Infancy 2
Idiopathic Hypereosinophilic Syndrome 2
IgA nephropathy, susceptibility to, 3 1
IL12RB1 Deficiency 3
Imagawa-Matsumoto syndrome 1
IMAGE Syndrome 8
IMAGE-I syndrome 2
Iminoglycinuria 1
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 5
Immunodeficiency 11A 3
Immunodeficiency 11B with atopic dermatitis 3
Immunodeficiency 12 2
Immunodeficiency 13 4
Immunodeficiency 14 8
Immunodeficiency 15 1
Immunodeficiency 16 1
Immunodeficiency 17, CD3 gamma deficient 2
Immunodeficiency 18 2
Immunodeficiency 19 2
Immunodeficiency 22 1
Immunodeficiency 23 4
Immunodeficiency 24 1
Immunodeficiency 26, with or without neurologic abnormalities 2
Immunodeficiency 27B, mycobacteriosis, AD 2
Immunodeficiency 28, mycobacteriosis 2
Immunodeficiency 29, mycobacteriosis 3
Immunodeficiency 31A, mycobacteriosis, autosomal dominant 3
Immunodeficiency 32A, mycobacteriosis, autosomal dominant 2
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 2
Immunodeficiency 36 6
Immunodeficiency 37 2
Immunodeficiency 38 2
Immunodeficiency 39 1
Immunodeficiency 40 1
Immunodeficiency 42 2
Immunodeficiency 44 1
Immunodeficiency 45 2
Immunodeficiency 46 1
Immunodeficiency 48 2
Immunodeficiency 49 2
Immunodeficiency 50 1
Immunodeficiency 52 2
Immunodeficiency 53 1
Immunodeficiency 54 1
Immunodeficiency 55 2
Immunodeficiency 56 1
Immunodeficiency 57 2
Immunodeficiency 58 2
Immunodeficiency 62 1
Immunodeficiency 63 with lymphoproliferation and autoimmunity 1
Immunodeficiency 64 1
Immunodeficiency 7, TCR-alpha/beta deficient 1
Immunodeficiency 8 3
Immunodeficiency and Hepatopathy with Cutis Laxa 6
Immunodeficiency Due To Defect In Cd3-Zeta 2
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 3
Immunodeficiency With Hyper IgM Type 5 3
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 3
Immunodeficiency, Common Variable, 1 5
Immunodeficiency, common variable, 10 7
Immunodeficiency, common variable, 11 4
Immunodeficiency, common variable, 12 5
Immunodeficiency, common variable, 13 4
Immunodeficiency, common variable, 14 3
Immunodeficiency, Common Variable, 3 3
Immunodeficiency, Common Variable, 4 4
Immunodeficiency, Common Variable, 5 4
Immunodeficiency, Common Variable, 6 4
Immunodeficiency, common variable, 7 4
Immunodeficiency, Common Variable, 8, with Autoimmunity 5
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia 5
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 4
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 2
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked 4
Immunoglobulin A Deficiency 2 3
Immunoglobulin Kappa Light Chain Deficiency 1
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 3
Inclusion Body Myopathy 3 3
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 9
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 4
Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 4
Incontinentia Pigmenti 6
Indifference To Pain, Congenital, Autosomal Recessive 8
Infantile cerebellar-retinal degeneration 8
Infantile Gm1 Gangliosidosis 8
Infantile Hypophosphatasia 7
Infantile Liver Failure Syndrome 1 2
Infantile Liver Failure Syndrome 2 7
Infantile liver failure syndrome 3 1
Infantile Nephronophthisis 8
Infantile Neuroaxonal Dystrophy 5
Infantile Parkinsonism-Dystonia 5
Infantile-Onset Ascending Hereditary Spastic Paralysis 4
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 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 13 1
Inflammatory Bowel Disease 17 1
Inflammatory Bowel Disease 25, Autosomal Recessive 2
Inflammatory Bowel Disease 28, Autosomal Recessive 2
Inflammatory bowel disease, immunodeficiency, and encephalopathy 4
Inflammatory Skin And Bowel Disease, Neonatal 3
Inflammatory skin and bowel disease, neonatal, 2 2
Inosine Triphosphatase Deficiency 2
Insulin-Like Growth Factor 1 Resistance To 5
Insulin-Like Growth Factor I Deficiency 2
Insulin-Resistant Diabetes Mellitus And Acanthosis Nigricans 2
Insulinomatosis and diabetes mellitus 1
Intellectual developmental disorder 60 with seizures 2
Intellectual developmental disorder 61 2
Intellectual developmental disorder 62 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 2
Intellectual developmental disorder with autism and speech delay 3
Intellectual developmental disorder with autistic features and language delay, with or without seizures 2
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 3
Intellectual developmental disorder with cardiac arrhythmia 1
Intellectual developmental disorder with cardiac defects and dysmorphic facies 3
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1
Intellectual developmental disorder with dysmorphic facies and ptosis 2
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 2
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities 1
Intellectual developmental disorder with hypertelorism and distinctive facies 1
Intellectual developmental disorder with hypotonia and behavioral abnormalities 1
Intellectual developmental disorder with macrocephaly, seizures, and speech delay 2
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 3
Intellectual developmental disorder with neuropsychiatric features 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 2
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 1
Intellectual developmental disorder with seizures and language delay 1
Intellectual developmental disorder with severe speech and ambulation defects 4
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2
Intellectual developmental disorder, autosomal recessive 69 1
Intellectual developmental disorder, autosomal recessive 70 1
Intellectual developmental disorder, autosomal recessive 71 1
Intellectual developmental disorder, autosomal recessive 72 1
Intellectual developmental disorder, X-linked 108 2
Intellectual developmental disorder, X-linked, syndromic, Armfield type 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 7
Intervertebral Disc Disorder 7
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 11
Intrinsic Factor Deficiency 1
Invasive Pneumococcal Disease, Recurrent Isolated, 1 1
Invasive Pneumococcal Disease, Recurrent Isolated, 2 2
IRAK4 Deficiency 4
Iridogoniodysgenesis Type1 9
Iridogoniodysgenesis, Dominant Type 11
Ischemic Stroke 1
Isolated Lutropin Deficiency 4
Isolated X-Linked Adrenal Hypoplasia Congenita 8
Isovaleryl-CoA Dehydrogenase Deficiency 5
Ivic Syndrome 8
Jaberi-Elahi syndrome 3
Jackson-Weiss Syndrome 13
Jalili Syndrome 6
Jansen de Vries syndrome 1
Jawad syndrome 4
Jensen Syndrome 2
Jervell And Lange-Nielsen Syndrome 2 5
Jervell And Lange-Nielson Syndrome 5
Johanson-Blizzard Syndrome 8
Joint laxity, short stature, and myopia 2
Joubert Syndrome 12
Joubert Syndrome 1 12
Joubert Syndrome 10 15
Joubert Syndrome 13 11
Joubert syndrome 14 12
Joubert syndrome 15 13
Joubert syndrome 16 12
Joubert syndrome 18 12
Joubert syndrome 19 7
Joubert Syndrome 2 12
Joubert syndrome 20 10
Joubert Syndrome 21 11
Joubert Syndrome 22 10
Joubert Syndrome 23 10
Joubert Syndrome 24 10
Joubert Syndrome 25 8
Joubert Syndrome 26 4
Joubert Syndrome 27 10
Joubert Syndrome 28 9
Joubert Syndrome 3 12
Joubert Syndrome 30 7
Joubert Syndrome 31 8
Joubert Syndrome 32 6
Joubert Syndrome 33 4
Joubert syndrome 35 1
Joubert Syndrome 4 12
Joubert Syndrome 5 14
Joubert Syndrome 6 12
Joubert Syndrome 7 15
Joubert Syndrome 8 13
Joubert Syndrome 9 15
Junctional Epidermolysis Bullosa 6
Juvenile Amyotrophic Lateral Sclerosis 3
Juvenile GM1 Gangliosidosis 6
Juvenile Macular Degeneration And Hypotrichosis 3
Juvenile Myelomonocytic Leukemia 8
Juvenile Myoclonic Epilepsy 3
Juvenile Nephropathic Cystinosis 3
Juvenile Polyposis Syndrome 7
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome 8
Juvenile Primary Lateral Sclerosis 2
Juvenile-Onset Dystonia 5
Kabuki Syndrome 1 17
Kabuki Syndrome 2 16
Kahrizi syndrome 5
Kallmann Syndrome 1 11
Kallmann Syndrome 2 16
Kallmann Syndrome 3 10
Kallmann Syndrome 4 9
Kallmann Syndrome 5 18
Kallmann Syndrome 6 15
Kanzaki Disease 3
Karyomegalic Tubulointerstitial Nephritis 1
Kaufman oculocerebrofacial syndrome 2
KBG Syndrome 13
Keipert syndrome 2
Kenny-Caffey Syndrome Type 1 6
Kenny-Caffey Syndrome Type 2 7
Keppen-Lubinsky syndrome 3
Keratitis, Hereditary 4
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 2
Keratitis-ichthyosis-deafness syndrome, autosomal recessive 2
Keratoconus 1 4
Keratoderma Palmoplantar Deafness 3
Keratoendothelitis fugax hereditaria 4
Keratosis Follicularis 1
Keratosis Follicularis Spinulosa Decalvans 3
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma 4
Keratosis Palmoplantaris Striata 3 2
Keratosis Palmoplantaris Striata II 4
Keratosis pilaris atrophicans 1
Keratosis, Seborrheic 3
Keutel Syndrome 3
Khan-Khan-Katsanis syndrome 1
Kindler's Syndrome 4
Kleefstra syndrome 2 2
Klein-Waardenberg's Syndrome 8
Klippel-Feil Syndrome 1, Autosomal Dominant 6
Klippel-Feil syndrome 2, autosomal recessive 4
Klippel-Feil Syndrome 3, Autosomal Dominant 6
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 5
Kniest Dysplasia 13
Knobloch Syndrome 1 10
Knuckle Pads, Deafness And Leukonychia Syndrome 2
Kohlschutter-Tonz syndrome 6
Koolen-De Vries Syndrome 5
Kosaki overgrowth syndrome 5
Krabbe Disease Atypical Due To Saposin A Deficiency 5
L-2-Hydroxyglutaric Aciduria 7
L-ferritin deficiency, dominant and recessive 1
Lacrimoauriculodentodigital Syndrome 18
Lafora Disease 6
Lamb-Shaffer syndrome 2
Langer Mesomelic Dysplasia Syndrome 2
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia 1
Laron-Type Isolated Somatotropin Defect 2
Larsen Syndrome, Dominant Type 7
Laryngoonychocutaneous Syndrome 3
Late-Onset Retinal Degeneration 5
Lateral meningocele syndrome 2
Lathosterolosis 4
Lattice Corneal Dystrophy Type 3A 2
Lattice Corneal Dystrophy Type I 2
Lattice Corneal Dystrophy Type III 2
Laurence-Moon syndrome 2
Laurin-Sandrow Syndrome 4
Leber Congenital Amaurosis 1 7
Leber Congenital Amaurosis 10 11
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 19 1
Leber Congenital Amaurosis 2 4
Leber Congenital Amaurosis 3 6
Leber Congenital Amaurosis 4 8
Leber Congenital Amaurosis 5 7
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 6
Left ventricular noncompaction 10 7
Left Ventricular Noncompaction 7 4
Left Ventricular Noncompaction 8 4
Legg-Calve-Perthes Disease 12
Legius Syndrome 2
Leigh Syndrome 22
Leigh Syndrome, French Canadian Type 6
Leiner Disease 1
Leiomyoma, Uterine 1
Lenz Microphthalmia Syndrome 10
Lenz-Majewski Hyperostotic Dwarfism 8
LEOPARD Syndrome 15
LEOPARD Syndrome 2 8
LEOPARD Syndrome 3 9
Leprechaunism Syndrome 3
Leprosy 2 2
Leri Weill Dyschondrosteosis 2
Lesch-Lyhan Syndrome 4
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 4
Lethal congenital contracture syndrome 7 3
Lethal congenital contracture syndrome 8 2
Lethal Multiple Pterygium Syndrome 11
Leucine-Induced Hypoglycemia 3
Leukemia, acute lymphoblastic, susceptibility to, 3 2
Leukocyte Adhesion Deficiency Type 1 2
Leukocyte Adhesion Deficiency, Type III 3
Leukodystrophy and acquired microcephaly with or without dystonia 2
Leukodystrophy, Hypomyelinating 3 4
Leukodystrophy, hypomyelinating, 10 2
Leukodystrophy, Hypomyelinating, 11 4
Leukodystrophy, hypomyelinating, 12 2
Leukodystrophy, hypomyelinating, 13 1
Leukodystrophy, hypomyelinating, 14 2
Leukodystrophy, hypomyelinating, 15 2
Leukodystrophy, hypomyelinating, 16 1
Leukodystrophy, hypomyelinating, 17 3
Leukodystrophy, hypomyelinating, 18 3
Leukodystrophy, Hypomyelinating, 2 4
Leukodystrophy, Hypomyelinating, 4 4
Leukodystrophy, Hypomyelinating, 6 5
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism 4
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism 4
Leukodystrophy, Hypomyelinating, 9 3
Leukoencephalopathy with Ataxia 5
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation 4
Leukoencephalopathy with Dystonia and Motor Neuropathy 5
Leukoencephalopathy With Vanishing White Matter 16
Leukoencephalopathy, Cystic, Without Megalencephaly 2
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 1
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 8
Leukoencephalopathy, Progressive, with Ovarian Failure 5
Lewy Body Dementia 6
Leydig Cell Hypoplasia, Type I 2
Li-Fraumeni Syndrome 19
Li-Fraumeni Syndrome 2 5
Liang-Wang syndrome 5
Liberfarb syndrome 2
Lichtenstein-Knorr syndrome 2
Liddle Syndrome 4
Liebenberg Syndrome 5
Lig4 Syndrome 7
Limb-Girdle Muscular Dystrophy, Type 1A 5
Limb-Girdle Muscular Dystrophy, Type 1B 6
Limb-Girdle Muscular Dystrophy, Type 1F 5
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 5
Limb-Girdle Muscular Dystrophy, Type 2G 8
Limb-Girdle Muscular Dystrophy, Type 2H 6
Limb-Girdle Muscular Dystrophy, Type 2Y 4
Limb-Mammary Syndrome 8
Linear Skin Defects with Multiple Congenital Anomalies 2 3
Linear skin defects with multiple congenital anomalies 3 2
Lipase Deficiency Combined 2
Lipid Proteinosis 1
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 3
Lipodystrophy, Congenital Generalized, Type 3 6
Lipodystrophy, Congenital Generalized, Type 4 6
Lipodystrophy, Familial Partial, Type 2 7
Lipodystrophy, Familial Partial, Type 3 5
Lipodystrophy, Familial Partial, Type 4 2
Lipodystrophy, familial partial, type 5 2
Lipodystrophy, familial partial, type 6 3
Lipoyltransferase 1 Deficiency 3
Lissencephaly 1 8
Lissencephaly 10 2
Lissencephaly 2 8
Lissencephaly 3 7
Lissencephaly 4 7
Lissencephaly 5 5
Lissencephaly 6, with microcephaly 7
Lissencephaly 7 with cerebellar hypoplasia 3
Lissencephaly 8 3
Lissencephaly 9 with complex brainstem malformation 5
Liver Cancer 6
Liver Failure Acute Infantile 2
Loeys-Dietz Syndrome 1 9
Loeys-Dietz Syndrome 2 13
Loeys-Dietz Syndrome 3 10
Loeys-Dietz Syndrome 4 10
Loeys-Dietz Syndrome 5 10
Long QT Syndrome 1 9
Long QT Syndrome 10 7
Long QT Syndrome 11 9
Long QT Syndrome 12 8
Long QT Syndrome 13 6
Long QT Syndrome 14 7
Long QT Syndrome 15 5
Long QT Syndrome 2 8
Long QT Syndrome 3 9
Long QT Syndrome 4 10
Long QT Syndrome 5 8
Long QT Syndrome 6 8
Long QT syndrome 8 3
Long QT Syndrome 9 9
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 10
Lowe Syndrome 10
Lowry-Wood syndrome 1
Lujan-Fryns Syndrome 14
Lung Cancer 15
Lung disease, immunodeficiency, and chromosome breakage syndrome 1
Luscan-Lumish Syndrome 6
Lymphangioleiomyomatosis 3
Lymphatic malformation 7 3
Lymphedema, Hereditary, ID 1
Lymphedema, Hereditary, III 5
Lymphedema, Primary, With Myelodysplasia 7
Lymphoproliferative Syndrome 2 2
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 4
Lymphoproliferative Syndrome, X-Linked, 1 8
Lymphoproliferative Syndrome, X-Linked, 2 7
Lynch Syndrome I 14
Lynch Syndrome II 12
Lysinuric Protein Intolerance 5
Lysosomal Acid Lipase Deficiency 5
Macrocephaly, acquired, with impaired intellectual development 2
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis 5
Macrocephaly, dysmorphic facies, and psychomotor retardation 2
Macrocephaly/Autism Syndrome 9
Macrocephaly/megalencephaly syndrome, autosomal recessive 2
Macrodactyly, somatic 6
Macrothrombocytopenia And Progressive Sensorineural Deafness 2
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 4
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 4
Macular Degeneration, X-Linked Atrophic 8
Macular Dystrophy with Central Cone Involvement 6
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 9
Malouf Syndrome 11
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 2
Mandibuloacral Dysplasia With Type A Lipodystrophy 7
Mandibuloacral Dysplasia With Type B Lipodystrophy 4
Mandibulofacial dysostosis with alopecia 1
Mandibulofacial dysostosis, Guion-Almeida type 10
Manitoba Oculotrichoanal Syndrome 9
Mannose-Binding Protein Deficiency 2
Maple Syrup Urine Disease 8
Maple syrup urine disease, mild variant 1
Marden Walker Like Syndrome 1
Marden-Walker Syndrome 3
Marfan lipodystrophy syndrome 12
Marfan Syndrome 18
Marinesco-Sjogren Syndrome 9
Marshall Syndrome 14
Marshall-Smith Syndrome 5
Martsolf Syndrome 6
MASA Syndrome 6
Masp2 Deficiency 1
Mass Syndrome 12
Mast Syndrome 4
Maturity-Onset Diabetes Of The Young, Type 1 7
Maturity-Onset Diabetes Of The Young, Type 10 5
Maturity-Onset Diabetes Of The Young, Type 11 4
Maturity-onset diabetes of the young, type 13 2
Maturity-Onset Diabetes Of The Young, Type 14 3
Maturity-Onset Diabetes Of The Young, Type 2 4
Maturity-Onset Diabetes Of The Young, Type 3 6
Maturity-Onset Diabetes Of The Young, Type 4 6
Maturity-Onset Diabetes Of The Young, Type 5 12
Maturity-Onset Diabetes Of The Young, Type 6 3
Maturity-Onset Diabetes Of The Young, Type 7 3
Maturity-Onset Diabetes Of The Young, Type 9 4
May-Hegglin Anomaly 9
Mckusick Kaufman Syndrome 11
McLeod Syndrome 2
Meacham Syndrome 4
Meckel Syndrome 1 12
Meckel Syndrome 10 10
Meckel syndrome 11 9
Meckel Syndrome 12 9
Meckel Syndrome 13 7
Meckel Syndrome 2 11
Meckel Syndrome 3 11
Meckel Syndrome 4 12
Meckel Syndrome 5 14
Meckel Syndrome 6 13
Meckel Syndrome 7 10
Meckel Syndrome 8 12
Meckel Syndrome 9 10
Meconium ileus 2
MECP2 Duplication Syndrome 7
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 8
MEDNIK Syndrome 4
Medullary Cystic Kidney Disease 1 3
Medullary Cystic Kidney Disease 2 2
Medulloblastoma 12
Meesmann Corneal Dystrophy 4
Meester-Loeys syndrome 3
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 2
Megalencephalic Leukoencephalopathy With Subcortical Cysts 6
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A 7
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation 7
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 9
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 9
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 11
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 9
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency 3
Megaloblastic Anemia Due To Inborn Errors Of Metabolism 2
Megalocornea 1, X-linked 1
MEHMO Syndrome 2
Meier-Gorlin Syndrome 1 5
Meier-Gorlin Syndrome 2 5
Meier-Gorlin Syndrome 3 5
Meier-Gorlin Syndrome 4 6
Meier-Gorlin Syndrome 5 5
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 7
Melanoma, Cutaneous Malignant, Susceptibility to, 10 4
Melanoma, cutaneous malignant, susceptibility to, 8 7
Melanoma-Pancreatic Cancer Syndrome 3
Melnick-Needles Syndrome 13
Melorheostosis 1
MEND Syndrome 9
Meningioma, Familial 13
Menke-Hennekam syndrome 1 9
Menke-Hennekam syndrome 2 9
Menkes Kinky-Hair Syndrome 7
Mental Retardation 105 2
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 7
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 10
Mental Retardation With Language Impairment And Autistic Features 7
Mental Retardation, Anterior Maxillary Protrusion, And Strabismus 1
Mental Retardation, Autosomal Dominant 1 8
Mental Retardation, Autosomal Dominant 11 1
Mental Retardation, Autosomal Dominant 13; MRD13 9
Mental Retardation, Autosomal Dominant 18 1
Mental Retardation, Autosomal dominant 19 4
Mental Retardation, Autosomal Dominant 21 5
Mental retardation, autosomal dominant 22 4
Mental Retardation, Autosomal Dominant 23 7
Mental Retardation, Autosomal Dominant 24 4
Mental Retardation, Autosomal Dominant 26 4
Mental Retardation, Autosomal Dominant 29 6
Mental Retardation, Autosomal Dominant 3 1
Mental Retardation, Autosomal Dominant 30 3
Mental Retardation, Autosomal Dominant 31 7
Mental retardation, autosomal dominant 32 6
Mental retardation, autosomal dominant 33 1
Mental retardation, autosomal dominant 35 4
Mental Retardation, Autosomal Dominant 36 1
Mental retardation, autosomal dominant 38 4
Mental Retardation, Autosomal Dominant 39 4
Mental retardation, autosomal dominant 40 4
Mental Retardation, Autosomal Dominant 41 5
Mental Retardation, Autosomal Dominant 42 3
Mental Retardation, Autosomal Dominant 43 4
Mental Retardation, Autosomal Dominant 44 3
Mental retardation, autosomal dominant 45 3
Mental retardation, autosomal dominant 46 2
Mental retardation, autosomal dominant 47 2
Mental retardation, autosomal dominant 48 2
Mental Retardation, Autosomal Dominant 49 3
Mental Retardation, Autosomal Dominant 5 7
Mental Retardation, Autosomal Dominant 50 3
Mental Retardation, Autosomal Dominant 51 3
Mental Retardation, Autosomal Dominant 52 4
Mental retardation, autosomal dominant 53 1
Mental retardation, autosomal dominant 54 2
Mental Retardation, Autosomal Dominant 55, with Seizures 3
Mental Retardation, Autosomal Dominant 56 3
Mental retardation, autosomal dominant 57 3
Mental retardation, autosomal dominant 58 1
Mental retardation, autosomal dominant 59 1
Mental Retardation, Autosomal Dominant 6 9
Mental Retardation, Autosomal Dominant 7 7
Mental Retardation, Autosomal Dominant 8 5
Mental Retardation, Autosomal Dominant 9 6
Mental Retardation, Autosomal Dominant, 27 6
Mental Retardation, Autosomal Recessive 1 1
Mental Retardation, Autosomal Recessive 12 5
Mental Retardation, Autosomal Recessive 13 3
Mental Retardation, Autosomal Recessive 14 2
Mental Retardation, Autosomal Recessive 15 3
Mental Retardation, Autosomal Recessive 18 1
Mental Retardation, Autosomal Recessive 2 2
Mental retardation, autosomal recessive 27 1
Mental Retardation, Autosomal Recessive 3 2
Mental retardation, autosomal recessive 34, with variant lissencephaly 3
Mental Retardation, Autosomal Recessive 36 2
Mental retardation, autosomal recessive 38 1
Mental retardation, autosomal recessive 39 1
Mental retardation, autosomal recessive 40 1
Mental retardation, autosomal recessive 41 3
Mental retardation, autosomal recessive 42 2
Mental Retardation, Autosomal Recessive 43 1
Mental Retardation, Autosomal Recessive 44 1
Mental retardation, autosomal recessive 45 1
Mental Retardation, Autosomal Recessive 46 1
Mental Retardation, Autosomal Recessive 47 1
Mental retardation, autosomal recessive 48 1
Mental retardation, autosomal recessive 49 1
Mental retardation, autosomal recessive 5 2
Mental retardation, autosomal recessive 50 1
Mental retardation, autosomal recessive 51 1
Mental Retardation, Autosomal Recessive 53 5
Mental retardation, autosomal recessive 54 1
Mental retardation, autosomal recessive 55 2
Mental Retardation, Autosomal Recessive 56 1
Mental retardation, autosomal recessive 57 3
Mental Retardation, Autosomal Recessive 58 1
Mental retardation, autosomal recessive 59 1
Mental Retardation, Autosomal Recessive 6 3
Mental retardation, autosomal recessive 60 1
Mental retardation, autosomal recessive 63 1
Mental retardation, autosomal recessive 64 1
Mental retardation, autosomal recessive 65 3
Mental retardation, autosomal recessive 66 1
Mental retardation, autosomal recessive 67 2
Mental retardation, autosomal recessive 68 1
Mental Retardation, Autosomal Recessive 7 3
Mental retardation, autosomal recessive, 37 2
Mental retardation, autosomal recessive, 52 1
Mental Retardation, Fra12a Type 1
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations 9
Mental Retardation, X-Linked 1/78 8
Mental Retardation, X-linked 100 3
Mental Retardation, X-linked 101 2
Mental Retardation, X-Linked 102 9
Mental Retardation, X-linked 103 2
Mental Retardation, X-linked 104 2
Mental retardation, X-linked 106 2
Mental retardation, X-linked 107 2
Mental Retardation, X-linked 12/35 2
Mental Retardation, X-Linked 19 4
Mental Retardation, X-Linked 21 4
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) 6
Mental Retardation, X-Linked 30 4
Mental Retardation, X-Linked 41 2
Mental Retardation, X-Linked 46 1
Mental Retardation, X-linked 49 6
Mental Retardation, X-Linked 58 2
Mental Retardation, X-linked 61 2
Mental Retardation, X-Linked 63 4
Mental Retardation, X-Linked 72 7
Mental Retardation, X-Linked 9 2
Mental Retardation, X-Linked 90 4
Mental Retardation, X-Linked 93 3
Mental Retardation, X-Linked 96 2
Mental Retardation, X-Linked 97 2
Mental Retardation, X-linked 98 6
Mental Retardation, X-linked 99 5
Mental retardation, X-linked 99, Syndromic, Female-Restricted 5
Mental retardation, X-linked syndromic, Turner type 6
Mental Retardation, X-linked, FRAXE Type 3
Mental Retardation, X-Linked, Syndromic 10 1
Mental Retardation, X-Linked, Syndromic 13 7
Mental Retardation, X-Linked, Syndromic 14 6
Mental Retardation, X-linked, Syndromic 33 7
Mental Retardation, X-linked, Syndromic 34 4
Mental Retardation, X-linked, Syndromic, 35 3
Mental Retardation, X-linked, Syndromic, Bain Type 3
Mental Retardation, X-Linked, Syndromic, Christianson Type 9
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 8
Mental Retardation, X-Linked, Syndromic, Hedera Type 5
Mental retardation, X-linked, syndromic, Houge type 3
Mental Retardation, X-Linked, Syndromic, Nascimento Type 4
Mental Retardation, X-Linked, Syndromic, Raymond Type 2
Mental Retardation, X-Linked, Syndromic, Wu Type 3
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related 11
Mental Retardation, X-Linked, With Panhypopituitarism 6
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait 9
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 12
Merosin Deficient Congenital Muscular Dystrophy 10
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 3
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 6
Metabolic Syndrome X 1
Metacarpal 4-5 fusion 3
Metachondromatosis 10
Metachromatic Leukodystrophy 6
Metaphyseal Anadysplasia 2 1
Metaphyseal Chondrodysplasia, Jansen Type 3
Metaphyseal Chondrodysplasia, Mckusick Type 4
Metaphyseal Chondrodysplasia, Schmid Type 3
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 1
Metaphyseal Dysplasia Without Hypotrichosis 4
Metaphyseal Dysplasia, Spahr Type 1
Metatropic Dwarfism 5
Methemoglobinemia 3
Methemoglobinemia and Ambiguous Genitalia 3
Methemoglobinemia, alpha type 3
Methionine Adenosyltransferase I/III Deficiency 4
Methylmalonate Semialdehyde Dehydrogenase Deficiency 5
Methylmalonic Aciduria and Homocystinuria, cblC Type 8
Methylmalonic Aciduria and Homocystinuria, cblD Type 8
Methylmalonic Aciduria and Homocystinuria, cblF Type 6
Methylmalonic Aciduria and Homocystinuria, cblJ Type 5
Methylmalonic Aciduria Cbla Type 6
Methylmalonic Aciduria Cblb Type 6
Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency 7
Methylmalonic Aciduria Due To Transcobalamin Receptor Defect 5
Methylmalonyl-CoA Epimerase Deficiency 4
Mevalonic Aciduria 7
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 7
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 7
Microcephaly 10, primary, autosomal recessive 3
Microcephaly 11, primary, autosomal recessive 1
Microcephaly 12, primary, autosomal recessive 1
Microcephaly 13, primary, autosomal recessive 2
Microcephaly 14, primary, autosomal recessive 1
Microcephaly 15, primary, autosomal recessive 2
Microcephaly 16, primary, autosomal recessive 3
Microcephaly 18, Primary, Autosomal Dominant 2
Microcephaly 20, primary, autosomal recessive 7
Microcephaly 21, primary, autosomal recessive 1
Microcephaly 22, primary, autosomal recessive 3
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 6
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 6
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 5
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation 9
Microcephaly, congenital cataract, and psoriasiform dermatitis 3
Microcephaly, Epilepsy, And Diabetes Syndrome 5
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 4
Microcephaly, growth deficiency, seizures, and brain malformations 5
Microcephaly, growth restriction, and increased sister chromatid exchange 2 1
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy 4
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 2
Microcephaly, seizures, spasticity, and brain calcification 1
Microcephaly, short stature, and impaired glucose metabolism 1 1
Microcephaly, short stature, and impaired glucose metabolism 2 2
Microcephaly, short stature, and polymicrogyria with seizures 6
Microcephaly-capillary malformation syndrome 3
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 4
Microcytic Anemia 1
Microhydranencephaly 4
Microphthalmia Syndromic 3 15
Microphthalmia Syndromic 5 11
Microphthalmia Syndromic 6 16
Microphthalmia Syndromic 7 8
Microphthalmia Syndromic 9 5
Microphthalmia With Limb Anomalies 8
Microphthalmia, Isolated 2 5
Microphthalmia, Isolated 3 4
Microphthalmia, Isolated 4 5
Microphthalmia, Isolated 5 10
Microphthalmia, Isolated 6 4
Microphthalmia, Isolated 7 5
Microphthalmia, Isolated 8 6
Microphthalmia, Isolated, with Coloboma 10 4
Microphthalmia, Isolated, With Coloboma 3 5
Microphthalmia, Isolated, With Coloboma 5 6
Microphthalmia, Isolated, With Coloboma 6 6
Microphthalmia, isolated, with coloboma 7 4
Microphthalmia, Isolated, with Coloboma 9 4
Microphthalmia, syndromic 11 5
Microphthalmia, syndromic 12 4
Microphthalmia, Syndromic 13 5
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome 8
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 9
Microtia, Hearing Impairment, And Cleft Palate 3
Microvascular Complications Of Diabetes 3 1
Microvascular Complications Of Diabetes 5 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 3
Migraine 1
Miller Syndrome 7
Miller-Dieker Lissencephaly Syndrome 1
Minicore Myopathy With External Ophthalmoplegia 8
MIRAGE syndrome 5
Mirror movements 2 4
Mirror movements 4 1
Mirror Movements, Congenital 1
Mitchell-Riley syndrome 1
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency 5
Mitochondrial Complex I Deficiency 22
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency 6
Mitochondrial complex I deficiency, nuclear type 10 3
Mitochondrial complex I deficiency, nuclear type 11 2
Mitochondrial complex I deficiency, nuclear type 12 5
Mitochondrial complex I deficiency, nuclear type 13 3
Mitochondrial complex I deficiency, nuclear type 14 2
Mitochondrial complex I deficiency, nuclear type 15 3
Mitochondrial complex I deficiency, nuclear type 16 4
Mitochondrial complex I deficiency, nuclear type 17 3
Mitochondrial complex I deficiency, nuclear type 18 2
Mitochondrial complex I deficiency, nuclear type 19 3
Mitochondrial complex I deficiency, nuclear type 2 3
Mitochondrial complex I deficiency, nuclear type 21 2
Mitochondrial complex I deficiency, nuclear type 22 3
Mitochondrial complex I deficiency, nuclear type 23 3
Mitochondrial complex I deficiency, nuclear type 24 2
Mitochondrial complex I deficiency, nuclear type 25 2
Mitochondrial complex I deficiency, nuclear type 26 3