TESTS BY DISEASE

Tests Found: 5203

Disease Name Number of Tests Offered
18 Hydroxylase Deficiency 1
2,4-dienoyl-CoA reductase deficiency 4
2-aminoadipic 2-oxoadipic aciduria 2
2-Methyl-3-Hydroxybutyric Aciduria 7
2-Methylbutyryl-CoA Dehydrogenase Deficiency 4
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency 6
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of 6
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 8
3-M Syndrome 2
3-Methylcrotonyl CoA Carboxylase 2 Deficiency 8
3-Methylglutaconic Aciduria 7
3-Methylglutaconic Aciduria Type 2 17
3-Methylglutaconic Aciduria Type 3 9
3-Methylglutaconic Aciduria Type V 4
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome 7
3-methylglutaconic aciduria, type IX 4
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 8
3-methylglutaconic aciduria, type VIII 7
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency 6
3MC syndrome 1 6
3MC syndrome 2 5
46, XX sex reversal 4 3
46,XX sex reversal 5 3
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 4
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 8
5Q- Syndrome 1
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 4
Aarskog Syndrome 6
ABCD Syndrome 5
Abdominal obesity-metabolic syndrome 3 3
Ablepharon-macrostomia syndrome 2
Abruzzo-Erickson syndrome 3
Acatalasemia 1
Aceruloplasminemia 7
Acheiropody 5
Achondrogenesis Type 2 12
Achondrogenesis, Type Ia 3
Achondrogenesis, Type Ib 7
Achondroplasia 14
Achromatopsia 2 4
Achromatopsia 3 4
Achromatopsia 4 5
Achromatopsia 7 4
Acne Inversa, Familial, 2 2
Acne Inversa, Familial, 3 5
Acquired Partial Lipodystrophy 3
Acrocallosal Syndrome, Schinzel Type 19
Acrocapitofemoral Dysplasia 5
Acrodermatitis Enteropathica 4
Acrodysostosis 5
Acrodysostosis 2, with or without Hormone Resistance 8
Acrofacial Dysostosis 1, Nager Type 12
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 14
ACTH Resistance 2
ACTH-independent macronodular adrenal hyperplasia 3
Acute Intermittent Porphyria 4
Acute Lymphoblastic Leukemia 5
Adams-Oliver Syndrome 1 11
Adams-Oliver Syndrome 2 11
Adams-Oliver Syndrome 3 6
Adams-Oliver Syndrome 4 8
Adams-Oliver Syndrome 5 9
Adams-Oliver Syndrome 6 8
Adenine Phosphoribosyltransferase Deficiency 2
Adenomatous Polyposis Coli 7
Adenosine Triphosphate, Elevated, Of Erythrocytes 1
Adenylate Kinase Deficiency, Hemolytic Anemia Due To 1
Adenylosuccinate Lyase Deficiency 10
Adolescent Nephronophthisis 10
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency 2
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency 6
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 7
Adrenocortical Carcinoma, Hereditary 6
Adrenoleukodystrophy 13
Adult Hypophosphatasia 8
Adult Onset Ataxia With Oculomotor Apraxia 8
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 4
ADULT Syndrome 11
Advanced Sleep Phase Syndrome, Familial 1
Advanced sleep-phase syndrome, familial, 2 1
Afibrinogenemia 2
Afibrinogenemia, congenital 12
Agammaglobulinemia 1 4
Agammaglobulinemia 2, Autosomal Recessive 4
Agammaglobulinemia 3, Autosomal Recessive 4
Agammaglobulinemia 4, Autosomal Recessive 5
Agammaglobulinemia 5, Autosomal Dominant 4
Agammaglobulinemia 6, Autosomal Recessive 5
Agammaglobulinemia 7, Autosomal Recessive 9
Agammaglobulinemia 8, autosomal dominant 5
AGAT Deficiency 6
Age-Related Macular Degeneration 1 3
Age-Related Macular Degeneration 11 1
Age-Related Macular Degeneration 4 7
Age-Related Macular Degeneration 5 6
Age-Related Macular Degeneration 6 3
Age-Related Macular Degeneration 7 3
Age-Related Macular Degeneration 9 4
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
Agnathia-Otocephaly Complex 3
AICAR Transformylase/Imp Cyclohydrolase Deficiency 1
Aicardi-Goutieres Syndrome 1 11
Aicardi-Goutieres Syndrome 2 9
Aicardi-Goutieres Syndrome 3 9
Aicardi-Goutieres Syndrome 4 9
Aicardi-Goutieres Syndrome 5 9
Aicardi-Goutieres Syndrome 6 8
Aicardi-Goutieres Syndrome 7 7
Al-Gazali syndrome 3
Al-Gazali-Bakalinova syndrome 14
Al-Raqad Syndrome 2
Alacrima, Achalasia, and Mental Retardation Syndrome 4
Alagille Syndrome 1 16
Alagille Syndrome 2 14
Aland Island Eye Disease 5
Alazami Syndrome 4
Alazami-Yuan Syndrome 3
Albinism, Ocular, With Sensorineural Deafness 9
Albinism, Oculocutaneous, Type VII 5
Alexander Disease 7
Alkaptonuria 1
Alkuraya-Kucinskas syndrome 7
Allan-Herndon-Dudley Syndrome 8
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome 1
Alpha Thalassemia 7
Alpha, Alpha-Trehalase Deficiency 1
Alpha-1-Antitrypsin Deficiency 2
Alpha-B Crystallinopathy 6
Alpha-Ketoglutarate Dehydrogenase Deficiency 1
Alpha-Methylacetoacetic Aciduria 8
Alpha-Methylacyl-CoA Racemase Deficiency 7
Alpha-Thalassemia Myelodysplasia Syndrome 8
Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity 3
Alport Syndrome, Autosomal Dominant 7
Alport Syndrome, Autosomal Recessive 9
Alport Syndrome, X-Linked Recessive 7
Alstrom Syndrome 12
Alternating Hemiplegia Of Childhood 8
Alternating Hemiplegia of Childhood 2 11
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins 5
Alzheimer Disease 9, Susceptibility to 1
Alzheimer Disease, Type 3 8
Alzheimer Disease, Type 4 8
Alzheimer's Disease 9
Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 4
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 6
Amish Infantile Epilepsy Syndrome 5
Amish Lethal Microcephaly 3
Aml - Acute Myeloid Leukemia 24
Amyloidogenic Transthyretin Amyloidosis 11
Amyloidosis, Finnish Type 5
Amyotrophic Lateral Sclerosis 16, Juvenile 4
Amyotrophic lateral sclerosis 19 3
Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 3
Amyotrophic lateral sclerosis 5, juvenile 2
Amyotrophic Lateral Sclerosis Type 1 6
Amyotrophic Lateral Sclerosis Type 10 7
Amyotrophic Lateral Sclerosis Type 11 11
Amyotrophic Lateral Sclerosis Type 12 7
Amyotrophic Lateral Sclerosis Type 14 5
Amyotrophic Lateral Sclerosis Type 15 6
Amyotrophic Lateral Sclerosis Type 17 6
Amyotrophic Lateral Sclerosis Type 18 5
Amyotrophic Lateral Sclerosis Type 2 5
Amyotrophic Lateral Sclerosis Type 20 6
Amyotrophic Lateral Sclerosis Type 4 6
Amyotrophic Lateral Sclerosis Type 6 6
Amyotrophic Lateral Sclerosis Type 8 5
Amyotrophic Lateral Sclerosis Type 9 5
Amyotrophic lateral sclerosis, susceptibility to, 24 7
Amyotrophic Lateral Sclerosis, Susceptibility to, 25 3
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 1
Amytrophic Lateral Sclerosis 23 3
Anauxetic Dysplasia 5
Anauxetic dysplasia 2 1
Anauxetic dysplasia 3 1
Andermann Syndrome 5
Andersen Tawil Syndrome 11
Androgen Resistance Syndrome 7
Anemia Sideroblastic And Spinocerebellar Ataxia 5
Anemia, neonatal hemolytic, fatal or near-fatal 1
Anemia, sideroblastic, 3, pyridoxine-refractory 5
Anemia, sideroblastic, 4 2
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 3
Angelman Syndrome 11
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 10
Aniridia 2 2
Aniridia, Cerebellar Ataxia, And Mental Retardation 5
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 2
Antley-Bixler Syndrome 13
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis 10
Aortic Aneurysm, Familial Thoracic 10 7
Aortic Aneurysm, Familial Thoracic 11, susceptibility to 7
Aortic Aneurysm, Familial Thoracic 4 10
Aortic Aneurysm, Familial Thoracic 6 11
Aortic Aneurysm, Familial Thoracic 7 7
Aortic Aneurysm, Familial Thoracic 8 7
Aortic Aneurysm, Familial Thoracic 9 5
Aortic valve disease 2 3
Aortic valve disease 8 1
Aortic Valve Disorder 9
Apert Syndrome 15
Aphakia, Congenital Primary 10
Aplasia Of Lacrimal And Salivary Glands 3
Aplastic Anemia 8
ApoA-I and apoC-III deficiency, combined 4
Apolipoprotein C2 Deficiency 2
Apparent Mineralocorticoid Excess 3
Arginase Deficiency 10
Argininosuccinate Lyase Deficiency 5
Aromatase Deficiency 2
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 11
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 8
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 10
Arterial Calcification, Generalized, of Infancy, 2 5
Arterial Tortuosity Syndrome 9
Arteriovenous Malformations Of The Brain 9
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 1
Arthrogryposis multiplex congenita 5 1
Arthrogryposis Multiplex Congenita Distal Type 1 6
Arthrogryposis Multiplex Congenita, Distal, X-Linked 2
Arthrogryposis multiplex congenita, myogenic type 3
Arthrogryposis multiplex congenita, neurogenic type 1
Arthrogryposis multiplex congenita, neurogenic, with myelin defect 1
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 5
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 4
Arthrogryposis, Distal, Type 1B 4
Arthrogryposis, distal, type 1C 1
Arthrogryposis, Distal, Type 2B 12
Arthrogryposis, distal, type 2B2 3
Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 4
Arthrogryposis, Distal, Type 3 5
Arthrogryposis, Distal, Type 5 5
Arthrogryposis, distal, type 5D 6
Arthrogryposis, Distal, Type 7 5
Arthrogryposis, Distal, Type 8 7
Arthrogryposis, Distal, with Impaired Proprioception and Touch 3
Arthrogryposis, Mental Retardation, and Seizures 1
Arthrogryposis, Perthes disease, and upward gaze palsy 3
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 5
Arts Syndrome 6
Asparagine synthetase deficiency 4
Aspartylglycosaminuria 6
Asperger Syndrome, X-Linked, Susceptibility To, 1 3
Asperger Syndrome, X-Linked, Susceptibility To, 2 5
Aspergillosis, Susceptibility To 2
Asplenia, isolated congenital 2
Asthma, Susceptibility To 1
Ataxia With Vitamin E Deficiency 3
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 3
Ataxia, sensory, 1, autosomal dominant 2
Ataxia-Oculomotor Apraxia 3 3
Ataxia-oculomotor apraxia 4 5
Ataxia-Pancytopenia Syndrome 8
Ataxia-Telangiectasia Syndrome 19
Ataxia-Telangiectasia-Like Disorder 12
Ataxia-telangiectasia-like disorder 2 2
Atelosteogenesis, type I 5
Atelosteogenesis, Type II 8
Atelosteogenesis, type III 5
Athabaskan Brainstem Dysgenesis 5
ATR-X Syndrome 17
Atrial fibrillation 15 1
Atrial Fibrillation, Familial, 10 8
Atrial Fibrillation, Familial, 11 6
Atrial Fibrillation, Familial, 12 10
Atrial Fibrillation, Familial, 13 7
Atrial Fibrillation, Familial, 14 7
Atrial Fibrillation, Familial, 18 2
Atrial Fibrillation, Familial, 3 8
Atrial Fibrillation, Familial, 4 7
Atrial Fibrillation, Familial, 6 5
Atrial Fibrillation, Familial, 7 6
Atrial Fibrillation, Familial, 9 9
Atrial Myxoma, Familial 6
Atrial Septal Defect 2 9
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 7
Atrial Septal Defect With Atrioventricular Conduction Defects 12
Atrial standstill 2 1
Atrial standstill, digenic (GJA5/SCN5A) 2
Atrioventricular Septal Defect 8
Atrioventricular Septal Defect 2 3
Atrioventricular Septal Defect 4 9
Atrioventricular septal defect 5 7
Attention Deficit-Hyperactivity Disorder 1
Atypical Hemolytic-Uremic Syndrome 1 5
Atypical Hemolytic-Uremic Syndrome 2 2
Atypical Hemolytic-Uremic Syndrome 3 2
Atypical Hemolytic-Uremic Syndrome 4 3
Atypical Hemolytic-Uremic Syndrome 5 4
Atypical Hemolytic-Uremic Syndrome 6 3
Atypical Mycobacteriosis, Familial 3
Atypical Mycobacteriosis, Familial, X-Linked 2 5
Au-Kline syndrome 5
Auditory neuropathy and optic atrophy 3
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 4
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 6
Autism, Susceptibility to, X-linked 4 3
Autism, Susceptibility To, X-Linked 5 3
Autism, Susceptibility to, X-linked 6 2
Autoimmune Disease 6 2
Autoimmune Disease, Multisystem, Infantile-Onset, 1 8
Autoimmune disease, multisystem, infantile-onset, 2 3
Autoimmune Disease, Syndromic Multisystem 5
Autoimmune interstitial lung, joint, and kidney disease 2
Autoimmune Lymphoproliferative Syndrome 5
Autoimmune Lymphoproliferative Syndrome, Type 2 4
Autoimmune Lymphoproliferative Syndrome, Type III 6
Autoimmune Lymphoproliferative Syndrome, Type V 5
Autoimmune Thyroid Disease 3 2
Autoinflammation with arthritis and dyskeratosis 3
Autoinflammation with episodic fever and lymphadenopathy 3
Autoinflammation with Infantile Enterocolitis 5
Autoinflammation, antibody deficiency, and immune dysregulation syndrome 4
Autoinflammation, immune dysregulation, and eosinophilia 1
Autoinflammation, panniculitis, and dermatosis syndrome 2
Autoinflammatory Syndrome, Familial, Behcet-like 4
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E 5
Autosomal Recessive Centronuclear Myopathy 5
Autosomal Recessive Cutis Laxa Type 3A 9
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 3
Autosomal Recessive Hypophosphatemic Bone Disease 7
Avascular Necrosis Of Femoral Head, Primary 11
Avascular necrosis of femoral head, primary, 2 4
Avellino Corneal Dystrophy 2
Axenfeld-Rieger Syndrome Type 3 10
Axenfeld-Rieger syndrome, type 1 14
Ayme-Gripp Syndrome 8
Azorean Disease 1
B-cell expansion with NFKB and T-cell anergy 4
Bacteremia, Susceptibility To, 1 2
Bainbridge-Ropers Syndrome 6
Baker-Gordon syndrome 3
Baller-Gerold Syndrome 13
Bamforth Syndrome 2
Band Heterotopia 5
Bannayan-Riley-Ruvalcaba Syndrome 10
Baraitser-Winter Syndrome 1 13
Baraitser-Winter Syndrome 2 8
Barakat Syndrome 7
Barber-Say Syndrome 4
Bardet-Biedl Syndrome 1 18
Bardet-Biedl Syndrome 10 17
Bardet-Biedl Syndrome 11 17
Bardet-Biedl Syndrome 12 17
Bardet-Biedl Syndrome 13 17
Bardet-Biedl Syndrome 14 15
Bardet-Biedl Syndrome 15 11
Bardet-Biedl Syndrome 16 14
Bardet-Biedl Syndrome 17 12
Bardet-Biedl Syndrome 18 12
Bardet-Biedl Syndrome 19 14
Bardet-Biedl Syndrome 2 16
Bardet-Biedl Syndrome 20 8
Bardet-Biedl Syndrome 21 9
Bardet-Biedl Syndrome 3 17
Bardet-Biedl Syndrome 4 17
Bardet-Biedl Syndrome 5 18
Bardet-Biedl Syndrome 6 20
Bardet-Biedl Syndrome 7 17
Bardet-Biedl Syndrome 8 15
Bardet-Biedl Syndrome 9 17
Bare Lymphocyte Syndrome, Type I 2
Barrett Esophagus 1
Bartter Syndrome Antenatal Type 1 6
Bartter Syndrome Antenatal Type 2 5
Bartter Syndrome Type 4 6
Bartter syndrome, type 5, antenatal, transient 2
Basal cell carcinoma 7 5
Basal Cell Carcinoma, Multiple 6
Basal Ganglia Calcification, Idiopathic, 1 3
Basal Ganglia Calcification, Idiopathic, 4 8
Basal Ganglia Calcification, Idiopathic, 5 5
Basal Ganglia Calcification, Idiopathic, 6 3
Basal ganglia cancification, idiopathic, 7, autosomal recessive 2
Basal Ganglia Disease, Biotin-Responsive 10
Basal Laminar Drusen 5
Basan syndrome 2
Basel-Vanagait-Smirin-Yosef Syndrome 2
Basilicata-Akhtar syndrome 2
Becker Muscular Dystrophy 7
Beckwith-Wiedemann Syndrome 15
Behr Syndrome 7
Benign Familial Hematuria 4
Benign Familial Neonatal Seizures 1 8
Benign Familial Neonatal-Infantile Seizures 10
Benign Hereditary Chorea 4
Benign Recurrent Intrahepatic Cholestasis 1 4
Benign Recurrent Intrahepatic Cholestasis 2 3
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 10
Bent bone dysplasia syndrome 13
Bernard Soulier Syndrome 13
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 7
Bestrophinopathy, Autosomal Recessive 8
Beta Thalassemia, Dominant Inclusion Body Type 1
Beta-D-Mannosidosis 6
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency 6
Beta-Ureidopropionase Deficiency 2
Bethlem Myopathy 6
Bethlem Myopathy 13
Bethlem Myopathy 2 8
BH4-Deficient Hyperphenylalaninemia D 4
Bietti Crystalline Corneoretinal Dystrophy 3
Bifid Nose With Or Without Anorectal And Renal Anomalies 8
Bile Acid Malabsorption, Primary 4
Bile Acid Synthesis Defect, Congenital, 1 3
Bile Acid Synthesis Defect, Congenital, 2 3
Bile Acid Synthesis Defect, Congenital, 3 5
Bile Acid Synthesis Defect, Congenital, 4 7
Bile Acid Synthesis Defect, Congenital, 5 3
Bile acid synthesis defect, congenital, 6 2
Bilirubin, Serum Level Of, Quantitative Trait Locus 1 2
Birk Barel Mental Retardation Dysmorphism Syndrome 2
Birk-Landau-Perez syndrome 1
Birt-Hogg-Dube Syndrome 4
Bjornstad Syndrome 7
Bladder Cancer 13
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 5
Bleeding disorder, platelet-type, 16, autosomal dominant 7
Bleeding Disorder, Platelet-Type, 17 4
Bleeding Disorder, Platelet-Type, 19 4
Bleeding Disorder, Platelet-Type, 21 3
Bleeding disorder, platelet-type, 22 1
Bleeding Disorder, Platelet-Type, 8 5
Bleeding Disorder, Platelet-Type, 9 2
Blepharocheilodontic syndrome 1 5
Blepharocheilodontic syndrome 2 2
Blepharophimosis, Ptosis, And Epicanthus Inversus 8
Blepharospasm 1
Blood Group, Cromer System 2
Blood Group--Diego System 2
Blood Group--Froese 2
Blood Group--I System 1
Blood Group--Lutheran Inhibitor 4
Blood Group--Swann System 2
Blood Group--Waldner Type 2
Blood Group--Wright Antigen 2
Bloom Syndrome 10
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 4
Bone Marrow Failure Syndrome 1 7
Bone Marrow Failure Syndrome 2 3
Bone Marrow Failure Syndrome 3 7
Bone marrow failure syndrome 4 2
Bone marrow failure syndrome 5 3
Bone Mineral Density QTL18, Osteoporosis 6
Bone Mineral Density Quantitative Trait Locus 1 4
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 4
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 8
Brachydactyly, Type D 8
Brachydactyly, Type E1 8
Brachydactyly, Type E2 2
Brachydactyly-Syndactyly Syndrome 8
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 5
Brachyolmia Type 3 5
Brain abnormalities, neurodegeneration, and dysosteosclerosis 6
Brain malformations with or without urinary tract defects 3
Brain small vessel disease 3 5
Brain Small Vessel Disease With Hemorrhage 3
Branched-chain ketoacid dehydrogenase kinase deficiency 5
Branchiooculofacial Syndrome 8
Branchiootic syndrome 1 9
Branchiootic Syndrome 3 7
Branchiootorenal Syndrome 1, with or without Cataracts 10
Branchiootorenal Syndrome 2 5
Breast-Ovarian Cancer, Familial 1 16
Breast-Ovarian Cancer, Familial 2 19
Breast-Ovarian Cancer, Familial 3 10
Breast-Ovarian Cancer, Familial 4 9
Breasts and/or nipples, aplasia or hypoplasia of, 2 1
Brittle Cornea Syndrome 1 5
Brittle Cornea Syndrome 2 6
Brody Myopathy 2
Bronchiectasis 7
Bronchiectasis With Or Without Elevated Sweat Chloride 2 2
Bronchiectasis With Or Without Elevated Sweat Chloride 3 2
Brown-Vialetto-Van Laere Syndrome 6
Brown-Vialetto-Van Laere syndrome 2 8
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 8
Brugada Syndrome 6 7
Brugada Syndrome 7 7
Brugada Syndrome 8 7
Brugada Syndrome 9 8
Budd-Chiari Syndrome 4
Bulbo-Spinal Atrophy X-Linked 2
Burn-McKeown Syndrome 2
Butyrylcholinesterase Deficiency 1
C Syndrome 1
C1q Deficiency 2
Caffey Disease 10
Calcification Of Joints And Arteries 1
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia 2
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome 3
Camptodactyly, Tall Stature, And Hearing Loss Syndrome 14
Camptomelic Dysplasia 14
Camptosynpolydactyly, Complex 6
Camurati-Engelmann Disease 9
Candidiasis, Familial, 2 3
Candidiasis, Familial, 4 2
Candidiasis, Familial, 5 2
Candidiasis, Familial, 6 2
Candidiasis, Familial, 7 5
Candidiasis, familial, 8 1
Candidiasis, familial, 9 2
Capillary Malformation-Arteriovenous Malformation 3
Capillary malformation-arteriovenous malformation 2 3
Capillary malformations, congenital, 1, somatic, mosaic 1
CAPOS syndrome 10
CARASIL Syndrome 8
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 16
Cardiac, facial, and digital anomalies with developmental delay 3
Cardiac-urogenital syndrome 5
Cardio-Facio-Cutaneous Syndrome 11
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 11
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 7
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 14
Cardiofaciocutaneous syndrome 3 11
Cardiofaciocutaneous syndrome 4 10
Cardiofacioneurodevelopmental syndrome 1
Cardiomyopathy Dilated With Woolly Hair And Keratoderma 8
Cardiomyopathy, Dilated, 1gg 4
Cardiomyopathy, Dilated, 1Hh 6
Cardiomyopathy, dilated, 1II 5
Cardiomyopathy, dilated, 1JJ 5
Cardiomyopathy, Dilated, 1KK 8
Cardiomyopathy, dilated, 1NN 5
Cardiomyopathy, Dilated, 1U 4
Cardiomyopathy, Dilated, 1V 3
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 5
Cardiomyopathy, Familial Restrictive, 1 4
Cardiomyopathy, Familial Restrictive, 3 4
Cardiospondylocarpofacial Syndrome 3
Carney Complex Variant 3
Carney Complex, Type 1 7
Carnitine Palmitoyltransferase I Deficiency 7
Carnitine Palmitoyltransferase II Deficiency, Infantile 8
Carnitine Palmitoyltransferase II Deficiency, Late-Onset 8
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 8
Carnitine-Acylcarnitine Translocase Deficiency 8
Carotid Intimal Medial Thickness 1 1
Carpal Tunnel Syndrome 4
Carpenter Syndrome 6
Carpenter Syndrome 2 5
Caspase-8 Deficiency 4
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 9
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 9
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 11
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 6
Catel-Manzke Syndrome 4
CATIFA syndrome 1
CATSPER-Related Male Infertility 4
Caudal Duplication Anomaly 1
Cavitary optic disc anomalies 1
Cd59 Deficiency 4
Cd8 Deficiency, Familial 2
CEBALID syndrome 1
Celiac Disease 3 3
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 7
Centronuclear myopathy 5 4
Centronuclear myopathy 6 with fiber-type disproportion 2
Cerebellar ataxia and hypogonadotropic hypogonadism 3
Cerebellar Ataxia, Cayman Type 2
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 3
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 3
Cerebellar ataxia, nonprogressive, with mental retardation 2
Cerebellar atrophy with seizures and variable developmental delay 4
Cerebellar atrophy, developmental delay, and seizures 7
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation 6
Cerebellar, ocular, craniofacial, and genital syndrome 2
Cerebellofaciodental syndrome 1
Cerebral Amyloid Angiopathy, App-Related 3
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 7
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 9
Cerebral Cavernous Malformations 1 5
Cerebral Cavernous Malformations 2 5
Cerebral Cavernous Malformations 3 3
Cerebral Creatine Deficiency Syndrome 1 6
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome 2
Cerebral Folate Deficiency 10
Cerebral Palsy, Spastic Quadriplegic, 1 5
Cerebral Palsy, Spastic Quadriplegic, 2 5
Cerebral palsy, spastic quadriplegic, 3 2
Cerebro-Oculo-Facio-Skeletal Syndrome 7
Cerebrocostomandibular syndrome 2
Cerebrooculofacioskeletal Syndrome 2 9
Cerebrooculofacioskeletal syndrome 3 8
Cerebrooculofacioskeletal Syndrome 4 8
Cerebroretinal Microangiopathy with Calcifications and Cysts 12
Cerebroretinal microangiopathy with calcifications and cysts 2 5
Cerebrotendinous Xanthomatosis 15
Ceroid Lipofuscinosis Neuronal 1 12
Ceroid Lipofuscinosis Neuronal 10 10
Ceroid Lipofuscinosis Neuronal 11 9
Ceroid Lipofuscinosis Neuronal 12 9
Ceroid Lipofuscinosis Neuronal 13 7
Ceroid Lipofuscinosis Neuronal 14 9
Ceroid Lipofuscinosis Neuronal 2 12
Ceroid Lipofuscinosis Neuronal 3 10
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 8
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant 9
Ceroid Lipofuscinosis Neuronal 5 9
Ceroid Lipofuscinosis Neuronal 6 9
Ceroid Lipofuscinosis Neuronal 7 11
Ceroid Lipofuscinosis Neuronal 8 10
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant 9
Cervical Cancer 8
Chanarin-Dorfman Syndrome 6
CHAND syndrome 5
Char Syndrome 7
Charcot-Marie-Tooth Disease Dominant Intermediate 3 5
Charcot-Marie-Tooth Disease Type 2B 5
Charcot-Marie-Tooth Disease Type 2B1 11
Charcot-Marie-Tooth Disease Type 2B2 5
Charcot-Marie-Tooth Disease Type 2C 11
Charcot-Marie-Tooth Disease Type 2D 7
Charcot-Marie-Tooth Disease Type 2E 7
Charcot-Marie-Tooth Disease Type 2F 6
Charcot-Marie-Tooth Disease Type 2I 6
Charcot-Marie-Tooth Disease Type 2J 6
Charcot-Marie-Tooth Disease Type 2K 4
Charcot-Marie-Tooth disease, axonal, type 2A2B 7
Charcot-Marie-Tooth disease, axonal, type 2CC 4
Charcot-Marie-Tooth disease, axonal, type 2DD 2
Charcot-Marie-Tooth disease, axonal, type 2EE 6
Charcot-Marie-Tooth Disease, Axonal, Type 2O 10
Charcot-Marie-Tooth disease, axonal, type 2T 1
Charcot-Marie-Tooth disease, axonal, type 2V 3
Charcot-Marie-Tooth disease, axonal, type 2W 2
Charcot-Marie-Tooth disease, axonal, type 2X 2
Charcot-Marie-Tooth disease, axonal, type 2Z 2
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive 4
Charcot-Marie-Tooth Disease, Dominant Intermediate B 8
Charcot-Marie-Tooth Disease, Dominant Intermediate C 5
Charcot-Marie-Tooth Disease, Dominant Intermediate E 5
Charcot-Marie-Tooth Disease, Dominant Intermediate F 6
Charcot-Marie-Tooth disease, dominant intermediate G 2
Charcot-Marie-Tooth Disease, Recessive Intermediate A 4
Charcot-Marie-Tooth Disease, Recessive Intermediate B 10
Charcot-Marie-Tooth Disease, Recessive Intermediate C 4
Charcot-Marie-Tooth Disease, Recessive Intermediate D 6
Charcot-Marie-Tooth Disease, Type 1A 5
Charcot-Marie-Tooth Disease, Type 1D 5
Charcot-Marie-Tooth Disease, Type 1E 5
Charcot-Marie-Tooth Disease, Type 1F 7
Charcot-Marie-Tooth Disease, Type 2A1 2
Charcot-Marie-Tooth Disease, Type 2A2 12
Charcot-Marie-Tooth Disease, Type 2L 7
Charcot-Marie-Tooth Disease, Type 2N 5
Charcot-Marie-Tooth Disease, Type 2Q 5
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 6
Charcot-Marie-Tooth Disease, Type 2Y 6
Charcot-Marie-Tooth Disease, Type 3 9
Charcot-Marie-Tooth Disease, Type 4A 4
Charcot-Marie-Tooth Disease, Type 4B1 8
Charcot-Marie-Tooth Disease, Type 4B2 11
Charcot-Marie-Tooth Disease, Type 4B3 10
Charcot-Marie-Tooth Disease, Type 4C 8
Charcot-Marie-Tooth Disease, Type 4D 6
Charcot-Marie-Tooth Disease, Type 4E 7
Charcot-Marie-Tooth Disease, Type 4F 8
Charcot-Marie-Tooth Disease, Type 4H 5
Charcot-Marie-Tooth Disease, Type 4J 13
Charcot-Marie-Tooth Disease, Type 4K 4
Charcot-Marie-Tooth Disease, Type Ib 6
Charcot-Marie-Tooth Disease, Type IC 4
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 6
Charcot-Marie-Tooth Disease, X-linked Dominant, 6 6
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 10
Charcot-Marie-Toothe Disease, Type 2P 4
CHARGE Association 26
Chediak-Higashi Syndrome 14
Cherubism 5
Chilblain lupus 2 3
Chilblain Lupus Erythematosus 5
Child Syndrome 8
Childhood Hypophosphatasia 8
CHIME syndrome 4
Chitayat Syndrome 3
CHMP2B-Related Frontotemporal Dementia 6
Choanal Atresia And Lymphedema 2
Cholecystitis 3
Cholestasis Of Pregnancy 3
Cholestasis, intrahepatic, of pregnancy, 3 3
Cholestasis, Progressive Familial Intrahepatic 2 4
Cholestasis, Progressive Familial Intrahepatic 3 5
Cholestasis, Progressive Familial Intrahepatic 4 4
Cholestasis, progressive familial intrahepatic, 5 2
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency 6
Chondrocalcinosis 2 3
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
Chorea, childhood-onset, with psychomotor retardation 1
Choreoacanthocytosis 2
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 7
Choroid Plexus Papilloma 8
Choroidal Dystrophy, Central Areolar 2 4
Choroideremia 8
Chromosome 9Q Deletion Syndrome 9
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 7
Chronic granulomatous disease 5, autosomal recessive 2
Chronic Infantile Neurological, Cutaneous And Articular Syndrome 10
Chronic Myeloid Leukemia 1
Chronic Obstructive Pulmonary Disease 2
Chudley-McCullough syndrome 6
Chylomicron Retention Disease 4
Ciliary Dyskinesia, Primary, 1 12
Ciliary Dyskinesia, Primary, 10 10
Ciliary Dyskinesia, Primary, 11 8
Ciliary Dyskinesia, Primary, 12 8
Ciliary Dyskinesia, Primary, 13 10
Ciliary Dyskinesia, Primary, 14 10
Ciliary Dyskinesia, Primary, 15 10
Ciliary Dyskinesia, Primary, 16 9
Ciliary Dyskinesia, Primary, 17 9
Ciliary Dyskinesia, Primary, 18 9
Ciliary Dyskinesia, Primary, 19 9
Ciliary Dyskinesia, Primary, 2 10
Ciliary Dyskinesia, Primary, 20 8
Ciliary Dyskinesia, Primary, 21 7
Ciliary Dyskinesia, Primary, 22 9
Ciliary Dyskinesia, Primary, 23 6
Ciliary Dyskinesia, Primary, 24 7
Ciliary Dyskinesia, Primary, 25 7
Ciliary Dyskinesia, Primary, 26 9
Ciliary Dyskinesia, Primary, 27 7
Ciliary Dyskinesia, Primary, 28 8
Ciliary Dyskinesia, primary, 29 7
Ciliary Dyskinesia, Primary, 3 10
Ciliary Dyskinesia, Primary, 30 6
Ciliary Dyskinesia, Primary, 32 7
Ciliary Dyskinesia, Primary, 33 8
Ciliary Dyskinesia, Primary, 34 5
Ciliary Dyskinesia, Primary, 35 6
Ciliary Dyskinesia, Primary, 36 4
Ciliary Dyskinesia, Primary, 37 9
Ciliary dyskinesia, primary, 38 6
Ciliary dyskinesia, primary, 39 4
Ciliary dyskinesia, primary, 40 8
Ciliary dyskinesia, primary, 41 5
Ciliary dyskinesia, primary, 42 6
Ciliary dyskinesia, primary, 43 4
Ciliary dyskinesia, primary, 45 4
Ciliary dyskinesia, primary, 5 2
Ciliary Dyskinesia, Primary, 6 10
Ciliary Dyskinesia, Primary, 7 10
Ciliary Dyskinesia, Primary, 9 9
Citrin Deficiency 8
Citrullinemia Type I 6
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 9
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 7
Cleidocranial Dysostosis 2
CLOVE syndrome, somatic 6
COACH Syndrome 16
COACH syndrome 2 4
COACH syndrome 3 2
Cockayne Syndrome Type I 9
Cockayne Syndrome, Type B 7
Cocoon Syndrome 3
CODAS syndrome 4
Coenzyme Q10 Deficiency 11
Coenzyme Q10 Deficiency, Primary, 2 6
Coenzyme Q10 deficiency, primary, 3 9
Coenzyme Q10 Deficiency, Primary, 4 6
Coenzyme Q10 Deficiency, Primary, 5 9
Coenzyme Q10 deficiency, primary, 6 6
Coenzyme Q10 Deficiency, Primary, 7 5
Coenzyme Q10 Deficiency, Primary, 8 2
Coenzyme Q10 deficiency, primary, 9 1
Coffin-Lowry Syndrome 4
Coffin-Siris Syndrome 1 11
Coffin-Siris Syndrome 2 9
Coffin-Siris Syndrome 3 8
Coffin-Siris Syndrome 4 10
Coffin-Siris Syndrome 5 8
Coffin-Siris syndrome 6 2
Coffin-Siris syndrome 7 5
Coffin-Siris syndrome 8 2
Cognitive Impairment With Or Without Cerebellar Ataxia 8
Cohen Syndrome 14
Cohen-Gibson syndrome 2
Colchicine resistance 1
Cold-Induced Sweating Syndrome 1 2
Cold-Induced Sweating Syndrome 2 1
Cold-Induced Sweating Syndrome 3 1
Cole Disease 6
Cole-Carpenter Syndrome 1 3
Cole-Carpenter Syndrome 2 8
Coloboma Of Optic Disc 6
Coloboma, Ocular 8
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 10
Colorectal cancer, susceptibility to, 12 7
Combined Cellular And Humoral Immune Defects With Granulomas 5
Combined D-2- and L-2-HydroxyGlutaric Aciduria 7
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 3
Combined Immunodeficiency, X-Linked 5
Combined Malonic And Methylmalonic Aciduria 7
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 2
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1
Combined Oxidative Phosphorylation Deficiency 1 7
Combined Oxidative Phosphorylation Deficiency 10 4
Combined Oxidative Phosphorylation Deficiency 11 2
Combined Oxidative Phosphorylation Deficiency 12 6
Combined Oxidative Phosphorylation Deficiency 13 5
Combined oxidative phosphorylation deficiency 14 9
Combined Oxidative Phosphorylation Deficiency 15 5
Combined Oxidative Phosphorylation Deficiency 16 1
Combined Oxidative Phosphorylation Deficiency 17 2
Combined Oxidative Phosphorylation Deficiency 18 3
Combined Oxidative Phosphorylation Deficiency 19 2
Combined Oxidative Phosphorylation Deficiency 2 1
Combined Oxidative Phosphorylation Deficiency 20 2
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 3
Combined Oxidative Phosphorylation Deficiency 26 2
Combined Oxidative Phosphorylation Deficiency 27 5
Combined oxidative phosphorylation deficiency 28 1
Combined oxidative phosphorylation deficiency 29 1
Combined Oxidative Phosphorylation Deficiency 3 6
Combined Oxidative Phosphorylation Deficiency 30 2
Combined oxidative phosphorylation deficiency 31 3
Combined oxidative phosphorylation deficiency 32 2
Combined oxidative phosphorylation deficiency 33 4
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 3
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 3
Combined oxidative phosphorylation deficiency 47 1
Combined Oxidative Phosphorylation Deficiency 5 4
Combined Oxidative Phosphorylation Deficiency 6 9
Combined Oxidative Phosphorylation Deficiency 7 10
Combined Oxidative Phosphorylation Deficiency 8 5
Combined Oxidative Phosphorylation Deficiency 9 3
Combined oxidative phosphorylation defiency 46 1
Combined Saposin Deficiency 6
COMMAD syndrome 4
Common Variable Agammaglobulinemia 5
Complement Component 2 Deficiency 2
Complement Component 3 Deficiency, Autosomal Recessive 4
Complement Component 4, Partial Deficiency Of 3
Complement Component 6 Deficiency 2
Complement Component 7 Deficiency 2
Complement Component 8 Deficiency Type 1 2
Complement Component 8 Deficiency Type 2 2
Complement Component 9 Deficiency 2
Complement Component c1s Deficiency 3
Complement factor B deficiency 3
Complement Factor D Deficiency 2
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 3
Complete Trisomy 21 Syndrome 6
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 13
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 8
Congenital Amegakaryocytic Thrombocytopenia 8
Congenital Aniridia 11
Congenital Anomalies of Kidney and Urinary Tract 2 3
Congenital anomalies of kidney and urinary tract 3 3
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay 5
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to 7
Congenital Bilateral Absence Of The Vas Deferens 8
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 10
Congenital Cataracts, Hearing Loss, and Neurodegeneration 9
Congenital Central Hypoventilation syndrome 20
Congenital Contractural Arachnodactyly 10
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 9
Congenital Cystic Disease Of Liver 5
Congenital Disorder of Deglycosylation 6
Congenital Disorder Of Glycosylation Type 1A 11
Congenital Disorder Of Glycosylation Type 1B 4
Congenital Disorder Of Glycosylation Type 1C 8
Congenital Disorder Of Glycosylation Type 1D 5
Congenital Disorder Of Glycosylation Type 1E 10
Congenital Disorder Of Glycosylation Type 1F 6
Congenital Disorder Of Glycosylation Type 1G 5
Congenital Disorder Of Glycosylation Type 1H 7
Congenital Disorder Of Glycosylation Type 1I 8
Congenital Disorder Of Glycosylation Type 1J 5
Congenital Disorder Of Glycosylation Type 1K 5
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 6
Congenital Disorder Of Glycosylation Type 2D 2
Congenital Disorder Of Glycosylation Type 2E 3
Congenital Disorder Of Glycosylation Type 2F 4
Congenital Disorder Of Glycosylation Type 2G 3
Congenital Disorder Of Glycosylation Type 2I 4
Congenital Disorder Of Glycosylation Type IIb 6
Congenital Disorder Of Glycosylation Type IIh 2
Congenital Disorder Of Glycosylation Type IIj 6
Congenital Disorder of Glycosylation Type IIk 3
Congenital Disorder of Glycosylation Type IIl 6
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 2
Congenital Disorder Of Glycosylation Type In 3
Congenital Disorder of Glycosylation Type Ir 2
Congenital Disorder of Glycosylation Type It 8
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 4
Congenital disorder of glycosylation with defective fucosylation 1 3
Congenital disorder of glycosylation, type 1aa 4
Congenital disorder of glycosylation, type Icc 3
Congenital disorder of glycosylation, type IIr 4
Congenital disorder of glycosylation, type IIt 2
Congenital Fiber Type Disproportion 10
Congenital Generalized Lipodystrophy Type 1 4
Congenital Generalized Lipodystrophy Type 2 6
Congenital Glucose-Galactose Malabsorption 4
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 6
Congenital heart defects, multiple types, 4 5
Congenital heart defects, multiple types, 5 4
Congenital heart defects, multiple types, 7 1
Congenital heart defects, nonsyndromic, 2 3
Congenital Human Immunodeficiency Virus 4
Congenital Hyperammonemia, Type I 8
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 1
Congenital Ichthyosis Of Skin 4
Congenital Lactase Deficiency 3
Congenital Microvillous Atrophy 6
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 11
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B 8
Congenital Myasthenic Syndrome - RAPSN 3
Congenital Myasthenic Syndrome, Acetazolamide-Responsive 4
Congenital Myotonia, Autosomal Dominant Form 4
Congenital Secretory Diarrhea, Chloride Type 4
Congenital Secretory Diarrhea, Sodium Type 5
Congenital short bowel syndrome 1
Congenital Stromal Corneal Dystrophy 3
Conotruncal Heart Malformations 17
Contractures, pterygia, and variable skeletal fusions syndrome 1B 4
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 10
Cornea Plana 2 3
Corneal Dystrophy And Perceptive Deafness 1
Corneal Dystrophy Fuchs Endothelial 1 4
Corneal dystrophy, Fuchs endothelial, 3 7
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 7
Cornelia de Lange syndrome 1 15
Cornelia de Lange syndrome 2 17
Cornelia de Lange syndrome 3 12
Cornelia de Lange syndrome 4 11
Cornelia de Lange syndrome 5 11
Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 2
Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia 3
Corpus Callosum, Partial Agenesis Of, X-Linked 5
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Cortical dysplasia, complex, with other brain malformations 10 4
Cortical dysplasia, complex, with other brain malformations 2 6
Cortical dysplasia, complex, with other brain malformations 3 7
Cortical Dysplasia, Complex, with other Brain Malformations 4 7
Cortical Dysplasia, Complex, with other Brain Malformations 5 5
Cortical dysplasia, complex, with other brain malformations 6 5
Cortical dysplasia, complex, with other brain malformations 9 4
Cortical Dysplasia-Focal Epilepsy Syndrome 10
Cortical Malformations, Occipital 3
Corticosterone Methyloxidase Type II Deficiency 1
Costello Syndrome 14
Coumarin Resistance 1
Cousin Syndrome 7
Cowchock Syndrome 9
Cowden Disease 25
Cowden syndrome 3 3
Cowden syndrome 5 9
Cowden syndrome 6 3
Cowden syndrome 7 4
Cowden-Like Syndrome 2
Craniodiaphyseal Dysplasia, Autosomal Dominant 4
Cranioectodermal Dysplasia 9
Cranioectodermal Dysplasia 2 11
Cranioectodermal Dysplasia 3 5
Cranioectodermal Dysplasia 4 6
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome 3
Craniofacial Deafness Hand Syndrome 6
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2
Craniofrontonasal Dysplasia 11
Craniolenticulosutural Dysplasia 3
Craniometaphyseal Dysplasia, Autosomal Dominant 3
Craniometaphyseal dysplasia, autosomal recessive 9
Craniosynostosis 3 8
Craniosynostosis 4 3
Craniosynostosis 5, Susceptibility to 4
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 11
Craniosynostosis, Type 2 4
Creatine Phosphokinase, Elevated Serum 2
Crigler-Najjar Syndrome, Type I 3
Crigler-Najjar Syndrome, Type II 3
Crouzon Syndrome 14
Crouzon Syndrome With Acanthosis Nigricans 12
Cryohydrocytosis 2
Cryptophthalmos, unilateral or bilateral, isolated 7
Cryptorchidism, Unilateral Or Bilateral 3
Culler-Jones Syndrome 13
Currarino Syndrome 6
Curry-Jones syndrome, somatic mosaic 4
Cushing's Symphalangism 8
Cutaneous Malignant Melanoma 1 2
Cutaneous Telangiectasia and Cancer Syndrome, Familial 3
Cutis Gyrata Syndrome Of Beare And Stevenson 10
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 6
Cutis Laxa, Autosomal Dominant 10
Cutis Laxa, Autosomal Dominant 2 9
Cutis Laxa, Autosomal Dominant 3 7
Cutis Laxa, Autosomal Recessive, Type IA 10
Cutis Laxa, Autosomal Recessive, Type IB 9
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 7
CYP2C19-Related Poor Drug Metabolism 1
Cystathioninuria 1
Cystic Fibrosis 13
Cystinosis 4
Cystinosis, Ocular Nonnephropathic 4
Cystinuria 6
Czech Dysplasia Metatarsal Type 13
D-2-Alpha Hydroxyglutaric Aciduria 7
D-2-Hydroxyglutaric Aciduria 2 5
D-Bifunctional Protein Deficiency 7
Danon Disease 12
De Sanctis-Cacchione Syndrome 5
Deafness , autosomal recessive 86 6
Deafness and myopia 2
Deafness autosomal recessive 106 1
Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) 4
Deafness, Aminoglycoside-Induced 2
Deafness, Autosomal Dominant 1 8
Deafness, Autosomal Dominant 10 5
Deafness, Autosomal Dominant 11 3
Deafness, Autosomal Dominant 12 3
Deafness, Autosomal Dominant 13 7
Deafness, Autosomal Dominant 15 2
Deafness, Autosomal Dominant 17 7
Deafness, Autosomal Dominant 20 5
Deafness, Autosomal Dominant 22 5
Deafness, Autosomal Dominant 23 4
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 6
Deafness, Autosomal Dominant 36 3
Deafness, autosomal dominant 37 4
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 1
Deafness, Autosomal Dominant 3A 3
Deafness, Autosomal Dominant 3B 2
Deafness, Autosomal Dominant 4 6
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 8
Deafness, Autosomal Dominant 64 2
Deafness, autosomal dominant 65 6
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 4
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 116 1
Deafness, Autosomal Recessive 12 2
Deafness, Autosomal Recessive 15 2
Deafness, Autosomal Recessive 16 3
Deafness, Autosomal Recessive 18 2
Deafness, autosomal recessive 18B 1
Deafness, Autosomal Recessive 1A 7
Deafness, Autosomal Recessive 1B 2
Deafness, Autosomal Recessive 2 3
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 3
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 5
Deafness, Autosomal Recessive 67 4
Deafness, autosomal recessive 68 1
Deafness, Autosomal Recessive 7 3
Deafness, autosomal recessive 70 4
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 1
Deafness, autosomal recessive 89 5
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 9
Deafness, congenital, with onychodystrophy, autosomal dominant 1
Deafness, Dystonia, and Cerebral Hypomyelination 4
Deafness, X-Linked 1 5
Deafness, X-Linked 2 3
Deafness, X-Linked 4 3
Deafness, X-Linked 5 8
Deafness, X-linked 6 6
Deafness, X-linked 7 1
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase 9
Deficiency Of Alpha-Mannosidase 7
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase 5
Deficiency Of Butyryl-CoA Dehydrogenase 7
Deficiency Of Galactokinase 6
Deficiency Of Glycerate Kinase 2
Deficiency Of Guanidinoacetate Methyltransferase 8
Deficiency Of Isobutyryl-CoA Dehydrogenase 1
Deficiency Of Pyrroline-5-Carboxylate Reductase 2
Deficiency Of Ribose-5-Phosphate Isomerase 2
Deficiency Of Steroid 17-Alpha-Monooxygenase 7
Deficiency Of Transaldolase 4
Dementia Familial British 4
Dementia, Familial Danish 4
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency 7
Dent Disease 1 9
Dent Disease 2 12
Dental Anomalies and Short Stature 5
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 3
Dermatofibrosis Lenticularis Disseminata 2
Dermatopathia Pigmentosa Reticularis 3
Desanto-Shinawi syndrome 5
Desbuquois Dysplasia 2 4
Desbuquois Syndrome 6
Desmoid Disease, Hereditary 2
Desmosterolosis 8
Developmental and Epileptic Encephalopathy 4 10
Developmental and epileptic encephalopathy 89 1
Developmental Delay and Seizures with or without Movement Abnormalities 4
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 3
Developmental delay, intellectual disability, obesity, and dysmorphic features 3
Diabetes Insipidus, Nephrogenic, Autosomal 5
Diabetes Insipidus, Nephrogenic, X-Linked 5
Diabetes Insipidus, Neurohypophyseal 3
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness 13
Diabetes Mellitus Type 1 4
Diabetes Mellitus, Insulin-Dependent, 10 4
Diabetes Mellitus, Insulin-Dependent, 12 3
Diabetes Mellitus, Insulin-Dependent, 2 3
Diabetes Mellitus, Insulin-Dependent, 20 3
Diabetes Mellitus, Ketosis-Prone 2
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism 4
Diabetes Mellitus, Noninsulin-Dependent 28
Diabetes Mellitus, Noninsulin-Dependent, 1 1
Diabetes mellitus, permanent neonatal 3
Diabetes mellitus, permanent neonatal 3, with or without neurologic features 5
Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis 4
Diabetes, permanent neonatal 2, with or without neurologic features 3
Diamond Blackfan anemia 15 with mandibulofacial dysostosis 4
Diamond-Blackfan Anemia 1 8
Diamond-Blackfan Anemia 10 8
Diamond-Blackfan Anemia 11 8
Diamond-Blackfan Anemia 12 9
Diamond-Blackfan anemia 13 5
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 2
Diamond-Blackfan anemia 16 3
Diamond-Blackfan anemia 17 1
Diamond-Blackfan anemia 20 2
Diamond-Blackfan Anemia 3 8
Diamond-Blackfan Anemia 4 7
Diamond-Blackfan Anemia 5 8
Diamond-Blackfan Anemia 6 8
Diamond-Blackfan Anemia 7 8
Diamond-Blackfan Anemia 8 9
Diamond-Blackfan Anemia 9 8
Diaphanospondylodysostosis 4
Diaphragmatic Hernia 3 6
Diarrhea 10, protein-losing enteropathy type 2
Diarrhea 4, Malabsorptive, Congenital 4
Diarrhea 5, With Tufting Enteropathy, Congenital 6
Diarrhea 6 5
Diarrhea 7, protein-losing enteropathy type 4
Diarrhea 8, secretory sodium, congenital 3
Diarrhea 9 1
Dias-Logan Syndrome 5
Diastrophic Dysplasia 8
Dicarboxylic Aminoaciduria 1
Diencephalic-mesencephalic junction dysplasia syndrome 2 1
Diets-Jongmans syndrome 2
Digeorge Sequence 10
Digital Clubbing, Isolated Congenital 2
Dihydrolipoamide dehydrogenase deficiency 8
Dihydropteridine Reductase Deficiency 5
Dihydropyrimidinase Deficiency 3
Dihydropyrimidine Dehydrogenase Deficiency 5
Dilated Cardiomyopathy 1A 14
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 7
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 8
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 6
Dominant Hereditary Optic Atrophy 11
Donnai Barrow Syndrome 6
DOOR syndrome 8
Dopamine Beta Hydroxylase Deficiency 1
Doyne Honeycomb Retinal Dystrophy 5
Drash Syndrome 9
Duane retraction syndrome 3 5
Duane Syndrome Type 2 3
Duane-Radial Ray Syndrome 12
Dubin-Johnson Syndrome 4
Duchenne Muscular Dystrophy 7
Dyggve-Melchior-Clausen Syndrome 4
Dyschromatosis universalis hereditaria 3 1
Dyserythropoietic Anemia, Congenital, Type Ia 7
Dyserythropoietic Anemia, Congenital, Type Ib 4
Dyserythropoietic Anemia, Congenital, Type II 7
Dyserythropoietic Anemia, Congenital, Type IV 7
Dysfibrinogenemia, congenital 6
Dyskeratosis Congenita Autosomal Dominant 9
Dyskeratosis Congenita Autosomal Recessive 7
Dyskeratosis Congenita X-Linked 13
Dyskeratosis Congenita, Autosomal Dominant 4 10
Dyskeratosis congenita, autosomal dominant 6 5
Dyskeratosis Congenita, Autosomal Dominant, 2 12
Dyskeratosis Congenita, Autosomal Dominant, 3 9
Dyskeratosis Congenita, Autosomal Recessive 6 11
Dyskeratosis Congenita, Autosomal Recessive, 2 7
Dyskeratosis Congenita, Autosomal Recessive, 3 7
Dyskinesia, familial, with facial myokymia 2
Dyskinesia, limb and orofacial, infantile-onset 1
Dyskinesia, Seizures, and Intellectual Developmental Disorder 5
Dyslexia 1 3
Dyssegmental Dysplasia Silverman-Handmaker Type 4
Dystonia 1 5
Dystonia 12 11
Dystonia 16 4
Dystonia 2, torsion, autosomal recessive 2
Dystonia 24 4
Dystonia 25 4
Dystonia 26, myoclonic 1
Dystonia 27 3
Dystonia 28, childhood-onset 1
Dystonia 3, Torsion, X-Linked 7
Dystonia 4, Torsion 7
Dystonia 5, Dopa-Responsive Type 8
Dystonia 6, Torsion 3
Dystonia 9 10
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 5
Dystransthyretinemic Euthyroidal Hyperthyroxinemia 4
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type 3
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 3
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 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 5
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 14
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 14
EDICT Syndrome 3
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 5
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 6
Ehlers-Danlos syndrome, arthrochalasia type, 2 4
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 10
Ehlers-Danlos Syndrome, Classic Like, 2 5
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 6
Ehlers-Danlos Syndrome, Musculocontractural Type 7
Ehlers-Danlos Syndrome, Musculocontractural Type 2 4
Ehlers-Danlos Syndrome, Periodontal Type, 2 4
Ehlers-Danlos Syndrome, Progeroid Type, 2 6
Ehlers-Danlos Syndrome, Type 1 12
Ehlers-Danlos Syndrome, Type 2 7
Ehlers-Danlos Syndrome, Type 3 2
Ehlers-Danlos Syndrome, Type 4 11
Ehlers-Danlos Syndrome, Type VIIA and VIIB 12
Ehlers-Danlos Syndrome, Type VIIC 4
Ehlers-Danlos Syndrome, Type VIII 5
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 9
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 6
Emery-Dreifuss Muscular Dystrophy 7, AD 4
Emery-Dreifuss muscular dystrophy-6 5
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 5
Encephalocraniocutaneous lipomatosis 6
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 5
Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To 2
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To 3
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission 9
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations 9
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 3
Encephalopathy, progressive, early-onset, with brain atrophy and spasticity 2
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 3
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 4
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 2
Encephalopathy, progressive, with amyotrophy and optic atrophy 3
Encephalopathy, progressive, with or without lipodystrophy 5
Endocrine-Cerebroosteodysplasia 6
Endometrial Cancer 8
Endplate Acetylcholinesterase Deficiency 4
Enhanced S-Cone Syndrome 2
Enlarged Vestibular Aqueduct Syndrome 10
Enterokinase Deficiency 1
Epidermal Nevus 14
Epidermodysplasia Verruciformis 2
Epidermodysplasia verruciformis 2 1
Epidermodysplasia verruciformis 3 2
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy 7
Epidermolysis Bullosa Herpetiformis, Dowling-Meara 4
Epidermolysis Bullosa Pruriginosa 6
Epidermolysis Bullosa Simplex 2
Epidermolysis Bullosa Simplex With Mottled Pigmentation 2
Epidermolysis bullosa simplex with nail dystrophy 6
Epidermolysis Bullosa Simplex With Pyloric Atresia 6
Epidermolysis Bullosa Simplex, Autosomal Recessive 3
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 3
Epidermolysis Bullosa Simplex, Cockayne-Touraine Type 8
Epidermolysis Bullosa Simplex, Koebner Type 4
Epidermolysis Bullosa Simplex, Ogna Type 7
Epidermolysis Bullosa With Pyloric Atresia 8
Epidermolysis Bullosa, Lethal Acantholytic 5
Epidermolysis Bullosa, Pretibial 6
Epidermolytic Hyperkeratosis 5
Epilepsy Juvenile Absence 3
Epilepsy, Childhood Absence 2 5
Epilepsy, Childhood Absence 5 9
Epilepsy, Childhood Absence 6 3
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 6
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 4
Epilepsy, Idiopathic Generalized 9 5
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 5
Epilepsy, idiopathic generalized, susceptibility to, 14 4
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 9
Epilepsy, Juvenile Myoclonic 5 6
Epilepsy, juvenile myoclonic, susceptibility to, 10 3
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 5
Epilepsy, Myoclonic, Familial Adult, 5 4
Epilepsy, nocturnal frontal lobe, 5 7
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 8
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure 8
Epilepsy, Progressive Myoclonic 6 6
Epilepsy, Progressive Myoclonic 7 4
Epilepsy, Progressive Myoclonic, 10 1
Epilepsy, Progressive Myoclonic, 8 3
Epilepsy, Progressive Myoclonic, 9 3
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp 8
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders 5
Epileptic encephalopathy, childhood-onset 7
Epileptic encephalopathy, early infantile, 1 11
Epileptic Encephalopathy, Early Infantile, 10 7
Epileptic Encephalopathy, Early Infantile, 11 11
Epileptic Encephalopathy, Early Infantile, 12 6
Epileptic Encephalopathy, Early Infantile, 13 10
Epileptic encephalopathy, early infantile, 14 7
Epileptic Encephalopathy, Early Infantile, 15 5
Epileptic Encephalopathy, Early Infantile, 16 9
Epileptic Encephalopathy, Early Infantile, 17 8
Epileptic encephalopathy, early infantile, 18 7
Epileptic Encephalopathy, Early Infantile, 19 7
Epileptic Encephalopathy, Early Infantile, 2 10
Epileptic Encephalopathy, Early Infantile, 21 4
Epileptic Encephalopathy, Early Infantile, 23 4
Epileptic Encephalopathy, Early Infantile, 24 8
Epileptic Encephalopathy, Early Infantile, 25 7
Epileptic Encephalopathy, Early Infantile, 26 7
Epileptic Encephalopathy, Early Infantile, 27 10
Epileptic Encephalopathy, Early Infantile, 28 7
Epileptic Encephalopathy, Early Infantile, 29 1
Epileptic Encephalopathy, Early Infantile, 3 6
Epileptic Encephalopathy, Early Infantile, 31 5
Epileptic Encephalopathy, Early Infantile, 32 8
Epileptic Encephalopathy, Early Infantile, 33 5
Epileptic Encephalopathy, Early Infantile, 34 4
Epileptic Encephalopathy, Early Infantile, 35 5
Epileptic Encephalopathy, Early Infantile, 36 8
Epileptic Encephalopathy, Early Infantile, 37 6
Epileptic Encephalopathy, Early Infantile, 38 4
Epileptic Encephalopathy, Early Infantile, 39 6
Epileptic Encephalopathy, Early Infantile, 40 2
Epileptic Encephalopathy, Early Infantile, 41 4
Epileptic Encephalopathy, Early Infantile, 42 8
Epileptic Encephalopathy, Early Infantile, 43 9
Epileptic Encephalopathy, Early Infantile, 44 5
Epileptic Encephalopathy, Early Infantile, 45 5
Epileptic Encephalopathy, Early Infantile, 46 6
Epileptic Encephalopathy, Early Infantile, 47 5
Epileptic Encephalopathy, Early Infantile, 48 5
Epileptic Encephalopathy, Early Infantile, 49 4
Epileptic Encephalopathy, Early Infantile, 5 8
Epileptic Encephalopathy, Early Infantile, 50 4
Epileptic Encephalopathy, Early Infantile, 51 6
Epileptic encephalopathy, early infantile, 52 8
Epileptic Encephalopathy, Early Infantile, 53 8
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 5
Epileptic Encephalopathy, Early Infantile, 59 4
Epileptic encephalopathy, early infantile, 60 4
Epileptic encephalopathy, early infantile, 61 2
Epileptic Encephalopathy, Early Infantile, 62 7
Epileptic encephalopathy, early infantile, 63 3
Epileptic encephalopathy, early infantile, 64 5
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 3
Epileptic Encephalopathy, Early Infantile, 7 9
Epileptic encephalopathy, early infantile, 70 3
Epileptic encephalopathy, early infantile, 71 3
Epileptic encephalopathy, early infantile, 72 2
Epileptic encephalopathy, early infantile, 73 2
Epileptic encephalopathy, early infantile, 74 5
Epileptic encephalopathy, early infantile, 75 3
Epileptic encephalopathy, early infantile, 76 5
Epileptic encephalopathy, early infantile, 77 5
Epileptic Encephalopathy, Early Infantile, 8 8
Epileptic encephalopathy, early infantile, 80 2
Epileptic encephalopathy, early infantile, 81 4
Epileptic encephalopathy, early infantile, 83 1
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects 6
Epileptic Encephalopathy, Early Infantile, 9 8
Epileptic Encephalopathy, Infantile or Early Childhood, 1 4
Epileptic Encephalopathy, Infantile or Early Childhood, 2 6
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 7
Episodic Ataxia Type 2 8
Episodic Ataxia, Type 5 5
Episodic Ataxia, Type 6 5
Episodic ataxia, type 9 3
Episodic Kinesigenic Dyskinesia 1 9
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 6 1
Erythrocytosis, 7 2
Erythrocytosis, Familial, 2 3
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE 2
Erythroderma, Ichthyosiform, Congenital Reticular 4
Erythrokeratodermia Variabilis Et Progressiva 4
Erythrokeratodermia variabilis et progressiva 3 6
Erythrokeratodermia variabilis et progressiva 5 1
Erythrokeratodermia veriabilis et progressiva 6 1
Erythropoietic Protoporphyria 3
Escobar Syndrome 7
Esophageal Cancer 10
Essential Hypertension 7
Essential Thrombocythemia 4
Essential tremor, hereditary, 4 2
Essential tremor, hereditary, 5 2
Ethylmalonic Encephalopathy 7
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 4
Even-plus syndrome 3
Exercise intolerance, riboflavin-responsive 2
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis 1
Exostoses, Multiple, Type I 5
Exostoses, Multiple, Type II 7
Exudative Vitreoretinopathy 2, X-Linked 11
Exudative Vitreoretinopathy 4 8
Exudative Vitreoretinopathy 5 4
Exudative Vitreoretinopathy 6 4
Exudative Vitreoretinopathy 7 7
Fabry's Disease 13
Facial Paresis, Hereditary Congenital, 3 1
Facioscapulohumeral Muscular Dystrophy 2 6
Factor H Deficiency 5
Factor V And Factor VIII, Combined Deficiency Of, 1 5
Factor V And Factor VIII, Combined Deficiency Of, 2 3
Factor V Deficiency 6
Factor VII Deficiency 6
Factor X Deficiency 6
Factor XII Deficiency Disease 2
Factor XIII, A Subunit, Deficiency Of 8
Factor XIII, B Subunit, Deficiency Of 6
Failure Of Tooth Eruption, Primary 1
Fallot Tetralogy 28
Familial Adenomatous Polyposis 3 3
Familial Adenomatous Polyposis 4 2
Familial Amyloid Nephropathy With Urticaria And Deafness 10
Familial Benign Hypercalcemia 8
Familial Benign Pemphigus 1
Familial Cancer Of Breast 30
Familial Cold Autoinflammatory Syndrome 2 5
Familial cold autoinflammatory syndrome 3 3
Familial cold autoinflammatory syndrome 4 4
Familial Cold Urticaria 9
Familial Colorectal Cancer 25
Familial digital arthropathy with brachydactyly 5
Familial Dysautonomia 6
Familial Encephalopathy With Neuroserpin Inclusion Bodies 3
Familial Erythrocytosis, 1 5
Familial Exudative Vitreoretinopathy 6
Familial Gynecomastia, Due To Increased Aromatase Activity 5
Familial Hemiplegic Migraine Type 1 10
Familial Hemiplegic Migraine Type 2 9
Familial Hemiplegic Migraine Type 3 10
Familial Hypercholesterolemia 7
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 8
Familial Hypertrophic Cardiomyopathy 6 8
Familial Hypertrophic Cardiomyopathy 7 8
Familial Hypertrophic Cardiomyopathy 8 6
Familial Hypertrophic Cardiomyopathy 9 6
Familial Hypoalphalipoproteinemia 4
Familial Hypobetalipoproteinemia 3
Familial Hypokalemia-Hypomagnesemia 4
Familial Infantile Myasthenia 5
Familial Juvenile Hyperuricemic Nephropathy 3
Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates 4
Familial Mediterranean Fever 6
Familial Mediterranean Fever, Autosomal Dominant 6
Familial Medullary Thyroid Carcinoma 7
Familial Non-Hodgkin Lymphoma 7
Familial Porphyria Cutanea Tarda 3
Familial Renal Glucosuria 1
Familial Renal Hypouricemia 2
Familial Type 5 Hyperlipoproteinemia 2
Familial Visceral Amyloidosis, Ostertag Type 5
Fanconi Anemia, Complementation Group A 12
Fanconi Anemia, Complementation Group B 11
Fanconi Anemia, Complementation Group C 13
Fanconi Anemia, Complementation Group D1 11
Fanconi Anemia, Complementation Group D2 12
Fanconi Anemia, Complementation Group E 11
Fanconi Anemia, Complementation Group F 12
Fanconi Anemia, Complementation Group G 12
Fanconi Anemia, Complementation Group I 10
Fanconi Anemia, Complementation Group J 14
Fanconi Anemia, Complementation Group L 11
Fanconi Anemia, Complementation Group M 2
Fanconi Anemia, Complementation Group N 15
Fanconi Anemia, Complementation Group O 11
Fanconi Anemia, Complementation Group P 12
Fanconi anemia, Complementation Group Q 13
Fanconi Anemia, Complementation Group R 8
Fanconi Anemia, Complementation Group S 7
Fanconi Anemia, Complementation Group T 8
Fanconi Anemia, Complementation Group U 8
Fanconi Anemia, Complementation Group V 7
Fanconi Anemia, Complementation Group W 7
Fanconi renotubular syndrome 1 4
Fanconi Renotubular Syndrome 2 6
Fanconi renotubular syndrome 3 3
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 6
Fanconi renotubular syndrome 5 3
Fanconi-Bickel Syndrome 15
Farber's Lipogranulomatosis 8
Fasting Plasma Glucose Level Quantitative Trait Locus 5 1
Fazio-Londe Disease 6
Febrile seizures, familial, 11 3
Febrile Seizures, Familial, 4 3
Fechtner Syndrome 3
Feingold Syndrome 1 10
Feingold Syndrome 2 6
Fetal Akinesia Deformation Sequence 9
Fetal akinesia deformation sequence 2 1
Fetal akinesia deformation sequence 3 1
Fetal akinesia deformation sequence 4 1
Fetal Hemoglobin Quantitative Trait Locus 1 1
Fetal Hemoglobin Quantitative Trait Locus 6 5
Fg Syndrome 16
FG Syndrome 2 21
FG Syndrome 4 10
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 5
Fibrosis of extraocular muscles, congenital, 5 2
Fibular Hypoplasia And Complex Brachydactyly 7
Filippi syndrome 6
FILS syndrome 5
Finnish Congenital Nephrotic Syndrome 3
Fish-Eye Disease 4
Fleck Corneal Dystrophy 3
Fleck Retina, Familial Benign 6
Floating-Harbor Syndrome 9
Focal Cortical Dysplasia Of Taylor 7
Focal Dermal Hypoplasia 8
Focal facial dermal dysplasia 3, Setleis type 2
Focal Segmental Glomerulosclerosis 1 4
Focal segmental glomerulosclerosis 10 1
Focal Segmental Glomerulosclerosis 2 6
Focal Segmental Glomerulosclerosis 3, Susceptibility To 4
Focal Segmental Glomerulosclerosis 4, Susceptibility To 4
Focal Segmental Glomerulosclerosis 5 2
Focal Segmental Glomerulosclerosis 6 2
Focal Segmental Glomerulosclerosis 8 4
Focal Segmental Glomerulosclerosis 9 4
Folate Malabsorption, Hereditary 8
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 9
Fragile X Syndrome 4
Fragile X Tremor/Ataxia Syndrome 4
Frank Ter Haar Syndrome 7
Fraser Syndrome 17
Fraser Syndrome 2 16
Fraser Syndrome 3 10
Frasier Syndrome 9
Freeman-Sheldon Syndrome 8
Friedreich's Ataxia 1
Frontometaphyseal Dysplasia 17
Frontometaphyseal Dysplasia 2 3
Frontonasal Dysplasia 6
Frontonasal Dysplasia 2 5
Frontonasal Dysplasia 3 3
Frontotemporal Dementia 10
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 7
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 10
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 8
Frontotemporal Dementia, Ubiquitin-Positive 8
Fructose-Biphosphatase Deficiency 5
Fucosidosis 7
Fuhrmann Syndrome 4
Fukuyama Congenital Muscular Dystrophy 14
Fumarase Deficiency 7
Gabriele-de Vries syndrome 1
Galactosemia 10
Galactosialidosis 9
Galactosylceramide Beta-Galactosidase Deficiency 10
Gallbladder Disease 4 2
Galloway-Mowat Syndrome 8
Galloway-Mowat Syndrome 2, X-linked 6
Galloway-Mowat Syndrome 3 8
Galloway-Mowat Syndrome 4 6
Galloway-Mowat Syndrome 5 5
Galloway-Mowat syndrome 6 6
Galloway-Mowat syndrome 7 4
Galloway-Mowat syndrome 8 3
Gamma Aminobutyric Acid Transaminase Deficiency 4
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To 2
Ganglioside Sialidase Deficiency 5
Gangliosidosis GM1 Type 3 6
GAPO Syndrome 2
Gastric Lymphoma 2
Gastrointestinal defects and immunodeficiency syndrome 4
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial 2
Gastrointestinal Stromal Tumors 5
GATA-1-Related Thrombocytopenia With Dyserythropoiesis 12
Gaucher Disease, Atypical, Due To Saposin C Deficiency 4
Gaucher Disease, Perinatal Lethal 7
Gaucher Disease, Type 1 6
Gaucher Disease, Type II 6
Gaucher Disease, Type III 5
Gaucher Disease, Type IIIc 6
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2
Gaze palsy, familial horizontal, with progressive scoliosis, 2 3
Geleophysic Dysplasia 5
Geleophysic Dysplasia 2 15
Geleophysic dysplasia 3 2
Generalized Dominant Dystrophic Epidermolysis Bullosa 6
Generalized Epilepsy And Paroxysmal Dyskinesia 6
Generalized Epilepsy With Febrile Seizures Plus, Type 1 9
Generalized epilepsy with febrile seizures plus, type 10 7
Generalized Epilepsy With Febrile Seizures Plus, Type 2 11
Generalized Epilepsy With Febrile Seizures Plus, Type 3 2
Generalized Epilepsy With Febrile Seizures Plus, Type 7 7
Generalized Epilepsy with Febrile Seizures Plus, Type 9 6
Genitopatellar Syndrome 8
Genitourinary and/or/brain malformation syndrome 5
Geroderma Osteodysplasticum 6
Ghosal Syndrome 2
Giant Axonal Neuropathy 7
Gilbert Syndrome 3
Gillessen-Kaesbach-Nishimura syndrome 3
Glanzmann's Thrombasthenia 13
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 9
Glaucoma, primary closed-angle 2
Glioma Susceptibility 1 5
Glioma Susceptibility 2 8
Glioma Susceptibility 3 7
Glioma Susceptibility 9 5
Global developmental delay with or without impaired intellectual development 1
Global developmental delay, progressive ataxia, and elevated glutamine 3
Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria 1
Glomerulopathy With Fibronectin Deposits 2 3
Glomerulosclerosis, Focal Segmental, 7 7
GLOW syndrome, somatic mosaic 4
Glucocorticoid Deficiency 2 1
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency 2
Glucocorticoid deficiency 5 3
Glucocorticoid Deficiency With Achalasia 2
Glucocorticoid Resistance 3
Glucocorticoid-Remediable Aldosteronism 2
Glut1 Deficiency Syndrome 1 10
Glut1 Deficiency Syndrome 2 10
Glutamate Formiminotransferase Deficiency 2
Glutamine Deficiency, Congenital 3
Glutaric Aciduria, Type 1 7
Glutaric Aciduria, Type 2 18
Glutathione Peroxidase Deficiency 1
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To 5
Gluthathione Synthetase Deficiency 5
Glycerol Kinase Deficiency 5
Glycine Encephalopathy 8
Glycine encephalopathy with normal serum glycine 2
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 6
Glycogen Storage Disease Type Ib 9
Glycogen Storage Disease Type Ic 8
Glycogen Storage Disease Type II 14
Glycogen Storage Disease Type III 7
Glycogen Storage Disease Type IV 10
Glycogen Storage Disease Type IXa1 5
Glycogen Storage Disease Type IXc 4
Glycogen Storage Disease Type IXd 5
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 6
Glycosylphosphatidylinositol biosynthesis defect 16 2
Glycosylphosphatidylinositol biosynthesis defect 17 2
Glycosylphosphatidylinositol biosynthesis defect 18 4
Glycosylphosphatidylinositol biosynthesis defect 21 1
Glycosylphosphatidylinositol Deficiency 2
Gnathodiaphyseal Dysplasia 3
GNE Myopathy 7
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors 8
Goldberg-Shprintzen Megacolon Syndrome 5
Gonadotropin-Independent Familial Sexual Precocity 6
Gorlin Syndrome 11
Gout, HPRT-Related 5
Gracile Bone Dysplasia 5
GRACILE Syndrome 7
Graft-Versus-Host Disease, Susceptibility To 2
Grange syndrome 4
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative 6
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II 5
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III 5
Granulomatous Disease, Chronic, X-Linked 7
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial 5
Gray Platelet Syndrome 5
Grebe Syndrome 7
Greenberg Dysplasia 7
Greig Cephalopolysyndactyly Syndrome 13
Griscelli Syndrome Type 1 8
Griscelli Syndrome Type 2 10
Griscelli Syndrome Type 3 5
Groenouw Corneal Dystrophy Type I 2
Growth Hormone Deficiency, Isolated Partial 1
Growth hormone deficiency, isolated, type V 1
Growth hormone insensitivity with immune dysregulation 2, autosomal dominant 1
Growth Hormone Insensitivity With Immunodeficiency 2
Growth restriction, severe, with distinctive facies 3
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 3
Gtp Cyclohydrolase I Deficiency 4
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia 5
Haim-Munk Syndrome 3
Hajdu-Cheney Syndrome 12
Hamamy syndrome 1
Hand Foot Uterus Syndrome 8
Harlequin Ichthyosis 6
Hartnup Disease 2
Hartsfield syndrome 15
Hashimoto Thyroiditis 3
Hawkinsinuria 3
Hay-Wells Syndrome 13
Heart and brain malformation syndrome 1
Heart-Hand Syndrome, Slovenian Type 8
Heimler syndrome 1 12
Heimler syndrome 2 10
Heinz Body Anemias 4
Helicobacter Pylori Infection, Susceptibility To 2
HELIX syndrome 1
Helsmoortel-van der Aa Syndrome 6
Hemangioma, Capillary Infantile 5
Heme Oxygenase 1 Deficiency 2
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 5
Hemolytic anemia due to glutathione reductase deficiency 1
Hemolytic Anemia Due To Hexokinase Deficiency 3
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency 5
Hemolytic anemia, congenital, X-linked 1
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency 4
Hemolytic uremic syndrome, atypical, susceptibility to, 2 2
Hemophagocytic Lymphohistiocytosis, Familial, 2 9
Hemophagocytic Lymphohistiocytosis, Familial, 3 7
Hemophagocytic Lymphohistiocytosis, Familial, 4 6
Hemophagocytic lymphohistiocytosis, Familial, 5 7
Hemophilia A, Congenital 2
Hemophilia A, Congenital 6
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 9
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 7
Hennekam lymphangiectasia-lymphedema syndrome 3 3
Hennekam Syndrome 11
Heparin Cofactor II Deficiency 1
Hepatic Adenomas, Familial 3
Hepatic Venoocclusive Disease With Immunodeficiency 2
Hepatitis B Virus, Susceptibility To 4
Hepatitis C Virus, Susceptibility To 4
Hereditary Angioneurotic Edema 4
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 1
Hereditary Coproporphyria 5
Hereditary Diffuse Gastric Cancer 14
Hereditary Factor IX Deficiency Disease 5
Hereditary Factor XI Deficiency Disease 5
Hereditary Fructose Intolerance 6
Hereditary Gingival Fibromatosis 5
Hereditary Hemorrhagic Telangiectasia Type 2 5
Hereditary Insensitivity To Pain With Anhidrosis 5
Hereditary Leiomyomatosis And Renal Cell Cancer 8
Hereditary Liability To Pressure Palsies 2
Hereditary Lymphedema Type 1C 4
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 12
Hereditary Nonpolyposis Colorectal Cancer Type 5 14
Hereditary Nonpolyposis Colorectal Cancer Type 6 6
Hereditary Nonpolyposis Colorectal Cancer Type 7 3
Hereditary Nonpolyposis Colorectal Cancer Type 8 15
Hereditary Pyropoikilocytosis 3
Hereditary Sideroblastic Anemia 4
Hereditary Spherocytosis 5
Hermansky-Pudlak Syndrome 1 11
Hermansky-Pudlak Syndrome 10 8
Hermansky-Pudlak Syndrome 2 13
Hermansky-Pudlak Syndrome 3 12
Hermansky-Pudlak Syndrome 4 11
Hermansky-Pudlak Syndrome 5 10
Hermansky-Pudlak Syndrome 6 11
Hermansky-Pudlak Syndrome 7 12
Hermansky-Pudlak Syndrome 8 11
Hermansky-Pudlak Syndrome 9 9
Herpes Simplex Encephalitis 1 2
Herpes Simplex Encephalitis 2 4
Heterotaxy, Visceral, 2, Autosomal 1
Heterotaxy, Visceral, 4, Autosomal 6
Heterotaxy, Visceral, 5 9
Heterotaxy, visceral, 6, autosomal recessive 4
Heterotaxy, Visceral, 7, Autosomal 3
Heterotaxy, visceral, 8, autosomal 5
Heterotaxy, Visceral, X-Linked 7
Heterotopia, Periventricular, Autosomal Recessive 8
Heterotopia, Periventricular, Ehlers-Danlos Variant 1
Heyn-Sproul-Jackson syndrome 5
Hidradenitis Suppurativa, Familial 2
Hidrotic Ectodermal Dysplasia Syndrome 3
Hip dysplasia, Beukes type 1
Hirschsprung Disease 1 9
Hirschsprung Disease 2 9
Hirschsprung Disease 3 4
Hirschsprung Disease 4 10
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction 4
Histidinemia 1
Histiocytosis-lymphadenopathy plus syndrome 7
Hodgkin Lymphoma 1
Holoprosencephaly 11 7
Holoprosencephaly 12, with or without pancreatic agenesis 2
Holoprosencephaly 13, X-linked 4
Holoprosencephaly 2 6
Holoprosencephaly 3 10
Holoprosencephaly 4 7
Holoprosencephaly 5 6
Holoprosencephaly 7 10
Holoprosencephaly 9 14
Holoprosencephaly Sequence 2
Holt-Oram Syndrome 8
Homocystinuria Due To Cbs Deficiency 13
Homocystinuria due to MTHFR Deficiency 10
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 8
Hyaline Fibromatosis Syndrome 3
Hydrocephalus, congenital communicating, 1 1
Hydrocephalus, Nonsyndromic, 1 5
Hydrocephalus, Nonsyndromic, 3 4
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 5
Hydrocephalus, normal pressure, 1 1
Hydrolethalus Syndrome 2 14
Hydrops, lactic acidosis, and sideroblastic anemia 3
Hydroxykynureninuria 2
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 3
Hyper-IgE recurrent infection syndrome 4, autosomal recessive 2
Hyper-IgE recurrent infection syndrome 5, autosomal recessive 2
Hyperaldosteronism, familial, type II 7
Hyperaldosteronism, Familial, Type III 4
Hyperaldosteronism, Familial, Type IV 6
Hyperalphalipoproteinemia 1
Hyperalphalipoproteinemia 2 1
Hyperammonemia due to carbonic anhydrase VA deficiency 4
Hyperammonemia, Type III 4
Hypercalcemia, infantile, 2 4
Hypercalciuria, Absorptive, 2 3
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant 4
Hypercholanemia, Familial 3
Hypercholesterolemia, Autosomal Dominant, 3 3
Hypercholesterolemia, Autosomal Dominant, Type B 5
Hypercholesterolemia, Autosomal Recessive 3
Hyperekplexia 2 1
Hyperekplexia 4 1
Hyperekplexia Hereditary 4
Hyperferritinemia Cataract Syndrome 6
Hyperglycinuria 2
Hyperimmunoglobulin D With Periodic Fever 11
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 9
Hyperimmunoglobulin E Syndrome 10
Hyperinsulinemic Hypoglycemia Familial 5 5
Hyperinsulinemic Hypoglycemia, Familial 3 5
Hyperinsulinemic Hypoglycemia, Familial 6 8
Hyperinsulinemic Hypoglycemia, Familial, 1 8
Hyperinsulinemic Hypoglycemia, Familial, 2 6
Hyperinsulinemic Hypoglycemia, Familial, 4 8
Hyperinsulinemic Hypoglycemia, Familial, 7 4
Hyperkalemic Periodic Paralysis; HYPP 5
Hyperlipidemia, Familial Combined 3
Hyperlipoproteinemia, Type 1D 2
Hyperlipoproteinemia, Type I 4
Hyperlipoproteinemia, Type III 1
Hyperlysinemia 2
Hypermanganesemia with dystonia 1 2
Hypermanganesemia with dystonia 2 2
Hypermethioninemia Due To Adenosine Kinase Deficiency 4
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency 6
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 5
Hyperostosis cranalis interna 1
Hyperparathyroidism 1 4
Hyperparathyroidism 2 4
Hyperparathyroidism 4 1
Hyperparathyroidism, Neonatal Severe Primary 7
Hyperparathyroidism, transient neonatal 2
Hyperphenylalaninemia, Mild, Non-BH4-Deficient 6
Hyperphosphatasemia Tarda 4
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 4
Hyperphosphatasia with Mental Retardation Syndrome 6 3
Hyperpigmentation with or without Hypopigmentation 3
Hyperproinsulinemia 3
Hyperprolactinemia 2
Hypertelorism, Teebi type 4
Hypertension and Brachydactyly Syndrome 5
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 5
Hyperthyroidism, Familial Gestational 4
Hyperthyroidism, Nonautoimmune 4
Hypertrichotic Osteochondrodysplasia 6
Hypertriglyceridemia, transient infantile 1
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 2
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis 4
Hyperuricemic Nephropathy, Familial Juvenile, 2 3
Hyperuricemic Nephropathy, Familial Juvenile, 4 4
Hypobetalipoproteinemia 4
Hypobetalipoproteinemia, Familial, 2 1
Hypocalcemia, autosomal dominant 10
Hypocalcemia, autosomal dominant 2 5
Hypocalciuric Hypercalcemia, Familial, Type III 5
Hypocalciuric hypercalcemia, type II 5
Hypochondroplasia 13
Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica 6
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 5
Hypohidrotic X-Linked Ectodermal Dysplasia 4
Hypokalemic Periodic Paralysis 3
Hypokalemic Periodic Paralysis, Type 2 4
Hypomagnesemia 1, Intestinal 3
Hypomagnesemia 2, Renal 5
Hypomagnesemia 4, Renal 3
Hypomagnesemia 5, Renal, With Ocular Involvement 6
Hypomagnesemia 6, Renal 3
Hypomagnesemia, seizures, and mental retardation 2
Hypomagnesemia, seizures, and mental retardation 2 3
Hypomyelinating neuropathy, congenital, 2 1
Hypomyelinating neuropathy, congenital, 3 4
Hypomyelination And Congenital Cataract 6
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 5
Hypoparathyroidism Retardation Dysmorphism Syndrome 7
Hypoparathyroidism, Familial Isolated 5
Hypoparathyroidism, X-linked 1
Hypophosphatemic Rickets, Autosomal Dominant 6
Hypophosphatemic Rickets, Autosomal Recessive, 2 6
Hypophosphatemic Rickets, X-Linked Dominant 7
Hypophosphatemic Rickets, X-Linked Recessive 6
Hypophosphatemic Vitamin D Refractory Rickets 5
Hypopigmentation, organomegaly, and delayed myelination and development 3
Hypoplastic Left Heart Syndrome 7
Hypoplastic Left Heart Syndrome 2 10
Hypoplastic or Aplastic Tibia with Polydactyly 5
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 4
Hypoproteinemia, Hypercatabolic 3
Hypospadias 1, X-Linked 2
Hypospadias 2, X-Linked 5
Hypospadias 3, Autosomal 2
Hypothalamic Hamartomas 6
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 9
Hypothyroidism, Congenital, Nongoitrous, 6 4
Hypothyroidism, congenital, nongoitrous, 7 1
Hypotonia, ataxia, and delayed development syndrome 5
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 1
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 1
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 7
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 8
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 5
Hypotonia-Cystinuria Syndrome 1
Hypotrichosis 6 1
Hypotrichosis-Lymphedema-Telangiectasia Syndrome 3
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1
I Cell Disease 7
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 2
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis 2
Ichthyosis, spastic quadriplegia, and mental retardation 2
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies 1
Idiopathic Fibrosing Alveolitis, Chronic Form 3
Idiopathic Hypercalcemia Of Infancy 3
Idiopathic Hypereosinophilic Syndrome 3
IgA nephropathy, susceptibility to, 3 1
Ige Responsiveness, Atopic 1
IL12RB1 Deficiency 4
Imagawa-Matsumoto syndrome 1
IMAGE Syndrome 10
IMAGE-I syndrome 4
Iminoglycinuria 2
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 2
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 8
Immunodeficiency 11A 4
Immunodeficiency 11B with atopic dermatitis 4
Immunodeficiency 12 3
Immunodeficiency 13 5
Immunodeficiency 14 9
Immunodeficiency 15 2
Immunodeficiency 15A 1
Immunodeficiency 16 2
Immunodeficiency 17, CD3 gamma deficient 3
Immunodeficiency 18 3
Immunodeficiency 19 3
Immunodeficiency 22 2
Immunodeficiency 23 6
Immunodeficiency 24 2
Immunodeficiency 26, with or without neurologic abnormalities 3
Immunodeficiency 27B, mycobacteriosis, AD 3
Immunodeficiency 28, mycobacteriosis 3
Immunodeficiency 29, mycobacteriosis 4
Immunodeficiency 31A, mycobacteriosis, autosomal dominant 5
Immunodeficiency 32A, mycobacteriosis, autosomal dominant 3
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 3
Immunodeficiency 36 8
Immunodeficiency 37 3
Immunodeficiency 38 3
Immunodeficiency 39 2
Immunodeficiency 40 2
Immunodeficiency 42 3
Immunodeficiency 44 2
Immunodeficiency 45 3
Immunodeficiency 46 2
Immunodeficiency 48 3
Immunodeficiency 49 4
Immunodeficiency 50 2
Immunodeficiency 52 3
Immunodeficiency 53 2
Immunodeficiency 54 2
Immunodeficiency 55 3
Immunodeficiency 56 2
Immunodeficiency 57 4
Immunodeficiency 58 3
Immunodeficiency 59 and hypoglycemia 1
Immunodeficiency 60 1
Immunodeficiency 61 2
Immunodeficiency 62 2
Immunodeficiency 63 with lymphoproliferation and autoimmunity 2
Immunodeficiency 64 2
Immunodeficiency 65, susceptibility to viral infections 2
Immunodeficiency 66 1
Immunodeficiency 7, TCR-alpha/beta deficient 2
Immunodeficiency 72 with autoinflammation 1
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia 1
Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia 1
Immunodeficiency 75 2
Immunodeficiency 8 4
Immunodeficiency and Hepatopathy with Cutis Laxa 7
Immunodeficiency Due To Defect In Cd3-Zeta 3
Immunodeficiency Due To Defect In Mapbp-Interacting Protein 3
Immunodeficiency Due To Ficolin 3 Deficiency 2
Immunodeficiency With Hyper Igm Type 1 6
Immunodeficiency With Hyper IgM Type 2 6
Immunodeficiency With Hyper IgM Type 3 4
Immunodeficiency With Hyper IgM Type 5 4
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 2
Immunodeficiency, Common Variable, 1 6
Immunodeficiency, common variable, 10 9
Immunodeficiency, common variable, 11 5
Immunodeficiency, common variable, 12 6
Immunodeficiency, common variable, 13 5
Immunodeficiency, common variable, 14 4
Immunodeficiency, Common Variable, 3 5
Immunodeficiency, Common Variable, 4 6
Immunodeficiency, Common Variable, 5 6
Immunodeficiency, Common Variable, 6 6
Immunodeficiency, common variable, 7 6
Immunodeficiency, Common Variable, 8, with Autoimmunity 7
Immunodeficiency, developmental delay, and hypohomocysteinemia 2
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia 7
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 5
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 3
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked 6
Immunoglobulin A Deficiency 2 4
Immunoglobulin Kappa Light Chain Deficiency 2
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 5
Inclusion Body Myopathy 3 3
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 10
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 5
Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 5
Incontinentia Pigmenti 7
Indifference To Pain, Congenital, Autosomal Recessive 9
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 1
Infantile cerebellar-retinal degeneration 10
Infantile Gm1 Gangliosidosis 9
Infantile Hypophosphatasia 8
Infantile Liver Failure Syndrome 1 2
Infantile Liver Failure Syndrome 2 8
Infantile liver failure syndrome 3 1
Infantile Nephronophthisis 10
Infantile Neuroaxonal Dystrophy 6
Infantile Parkinsonism-Dystonia 7
Infantile-Onset Ascending Hereditary Spastic Paralysis 5
Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations 4
Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA 3
Inflammatory bowel disease (Crohn disease) 30 2
Inflammatory Bowel Disease 1 4
Inflammatory Bowel Disease 13 1
Inflammatory Bowel Disease 17 2
Inflammatory Bowel Disease 25, Autosomal Recessive 3
Inflammatory Bowel Disease 28, Autosomal Recessive 3
Inflammatory bowel disease, immunodeficiency, and encephalopathy 5
Inflammatory Skin And Bowel Disease, Neonatal 4
Inflammatory skin and bowel disease, neonatal, 2 2
Inosine Triphosphatase Deficiency 3
Insulin-Like Growth Factor 1 Resistance To 5
Insulin-Like Growth Factor I Deficiency 2
Insulin-Resistant Diabetes Mellitus And Acanthosis Nigricans 4
Insulinomatosis and diabetes mellitus 2
Intellectual developmental disorder 60 with seizures 2
Intellectual developmental disorder 61 4
Intellectual developmental disorder 62 2
Intellectual developmental disorder and retinitis pigmentosa 1
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 4
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 2
Intellectual developmental disorder with dysmorphic facies and ptosis 3
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 2
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities 3
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 2
Intellectual developmental disorder with hypertelorism and distinctive facies 2
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 3
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 2
Intellectual developmental disorder with seizures and language delay 1
Intellectual developmental disorder with severe speech and ambulation defects 5
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 3
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
Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type 1
Interleukin 2 Receptor, Alpha, Deficiency Of 6
Interleukin 36 Receptor Antagonist Deficiency 5
Interstitial Lung and Liver Disease 3
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 9
Intervertebral Disc Disorder 7
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 14
Intrinsic Factor Deficiency 1
Invasive Pneumococcal Disease, Recurrent Isolated, 1 1
Invasive Pneumococcal Disease, Recurrent Isolated, 2 2
IRAK4 Deficiency 5
Iridogoniodysgenesis Type1 10
Iridogoniodysgenesis, Dominant Type 12
Ischemic Stroke 4
Isolated Lutropin Deficiency 4
Isolated X-Linked Adrenal Hypoplasia Congenita 9
Isovaleryl-CoA Dehydrogenase Deficiency 6
Ivic Syndrome 9
Jaberi-Elahi syndrome 3
Jackson-Weiss Syndrome 17
Jalili Syndrome 6
Jansen de Vries syndrome 2
Jawad syndrome 4
Jensen Syndrome 2
Jervell And Lange-Nielsen Syndrome 2 6
Jervell And Lange-Nielson Syndrome 6
Johanson-Blizzard Syndrome 8
Joint laxity, short stature, and myopia 2
Joubert Syndrome 14
Joubert Syndrome 1 14
Joubert Syndrome 10 18
Joubert Syndrome 13 13
Joubert syndrome 14 14
Joubert syndrome 15 15
Joubert syndrome 16 14
Joubert syndrome 18 14
Joubert syndrome 19 9
Joubert Syndrome 2 15
Joubert syndrome 20 11
Joubert Syndrome 21 13
Joubert Syndrome 22 11
Joubert Syndrome 23 11
Joubert Syndrome 24 12
Joubert Syndrome 25 12
Joubert Syndrome 26 5
Joubert Syndrome 27 13
Joubert Syndrome 28 12
Joubert Syndrome 3 14
Joubert Syndrome 30 10
Joubert Syndrome 31 12
Joubert Syndrome 32 7
Joubert Syndrome 33 5
Joubert syndrome 35 1
Joubert Syndrome 4 15
Joubert Syndrome 5 17
Joubert Syndrome 6 14
Joubert Syndrome 7 17
Joubert Syndrome 8 15
Joubert Syndrome 9 19
Junctional Epidermolysis Bullosa 6
Juvenile Amyotrophic Lateral Sclerosis 4
Juvenile GM1 Gangliosidosis 7
Juvenile Macular Degeneration And Hypotrichosis 3
Juvenile Myelomonocytic Leukemia 13
Juvenile Myoclonic Epilepsy 3
Juvenile Nephropathic Cystinosis 4
Juvenile Polyposis Syndrome 9
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome 10
Juvenile Primary Lateral Sclerosis 3
Juvenile-Onset Dystonia 7
Kabuki Syndrome 1 22
Kabuki Syndrome 2 19
Kahrizi syndrome 5
Kallmann Syndrome 1 13
Kallmann Syndrome 2 19
Kallmann Syndrome 3 11
Kallmann Syndrome 4 10
Kallmann Syndrome 5 22
Kallmann Syndrome 6 15
Kanzaki Disease 4
Karyomegalic Tubulointerstitial Nephritis 2
Kaufman oculocerebrofacial syndrome 2
KBG Syndrome 13
Keipert syndrome 3
Kenny-Caffey Syndrome Type 1 7
Kenny-Caffey Syndrome Type 2 7
Keppen-Lubinsky syndrome 4
Keratitis, Hereditary 5
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 3
Keratitis-ichthyosis-deafness syndrome, autosomal recessive 2
Keratoconus 1 5
Keratoderma Palmoplantar Deafness 4
Keratoendothelitis fugax hereditaria 6
Keratosis Follicularis 1
Keratosis Follicularis Spinulosa Decalvans 3
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma 5
Keratosis Palmoplantaris Striata 1 2
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 6
Kleefstra syndrome 2 3
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 6
Kniest Dysplasia 13
Knobloch Syndrome 1 11
Knuckle Pads, Deafness And Leukonychia Syndrome 3
Kohlschutter-Tonz syndrome 7
Koolen-De Vries Syndrome 5
Kosaki overgrowth syndrome 7
Krabbe Disease Atypical Due To Saposin A Deficiency 6
L-2-Hydroxyglutaric Aciduria 8
L-ferritin deficiency, dominant and recessive 2
Lacrimoauriculodentodigital Syndrome 21
Lafora Disease 7
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 5
Lathosterolosis 4
Lattice Corneal Dystrophy Type 3A 2
Lattice Corneal Dystrophy Type I 2
Lattice Corneal Dystrophy Type III 2
Laurence-Moon syndrome 3
Laurin-Sandrow Syndrome 5
Leber Congenital Amaurosis 1 7
Leber Congenital Amaurosis 10 14
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 4
Leber congenital amaurosis with early-onset deafness 2
Left Ventricular Noncompaction 1 6
Left ventricular noncompaction 10 8
Left Ventricular Noncompaction 7 4
Left Ventricular Noncompaction 8 4
Legg-Calve-Perthes Disease 12
Legius Syndrome 3
Leigh Syndrome 23
Leigh Syndrome, French Canadian Type 7
Leiner Disease 2
Leiomyoma, Uterine 1
Lenz Microphthalmia Syndrome 10
Lenz-Majewski Hyperostotic Dwarfism 8
LEOPARD Syndrome 16
LEOPARD Syndrome 2 8
LEOPARD Syndrome 3 10
Leprechaunism Syndrome 5
Leprosy 2 2
Leri Weill Dyschondrosteosis 2
Lesch-Lyhan Syndrome 6
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 3
Lethal Congenital Contracture Syndrome 2 1
Lethal congenital contracture syndrome 4 2
Lethal Congenital Contracture Syndrome 5 5
Lethal congenital contracture syndrome 7 4
Lethal congenital contracture syndrome 8 3
Lethal congenital contracture syndrome 9 1
Lethal Multiple Pterygium Syndrome 12
Leucine-Induced Hypoglycemia 5
Leukemia, acute lymphoblastic, susceptibility to, 3 3
Leukemia, acute promyelocytic, somatic 1
Leukocyte Adhesion Deficiency Type 1 4
Leukocyte Adhesion Deficiency, Type III 4
Leukodystrophy and acquired microcephaly with or without dystonia 3
Leukodystrophy, Hypomyelinating 3 5
Leukodystrophy, hypomyelinating, 10 4
Leukodystrophy, Hypomyelinating, 11 5
Leukodystrophy, hypomyelinating, 12 3
Leukodystrophy, hypomyelinating, 13 2
Leukodystrophy, hypomyelinating, 14 2
Leukodystrophy, hypomyelinating, 15 2
Leukodystrophy, hypomyelinating, 16 1
Leukodystrophy, hypomyelinating, 17 3
Leukodystrophy, hypomyelinating, 18 3
Leukodystrophy, Hypomyelinating, 2 5
Leukodystrophy, Hypomyelinating, 4 6
Leukodystrophy, Hypomyelinating, 6 6
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism 8
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism 6
Leukodystrophy, Hypomyelinating, 9 5
Leukoencephalopathy with Ataxia 8
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation 6
Leukoencephalopathy with Dystonia and Motor Neuropathy 6
Leukoencephalopathy With Vanishing White Matter 18
Leukoencephalopathy, Cystic, Without Megalencephaly 3
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 1
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 9
Leukoencephalopathy, Progressive, with Ovarian Failure 6
Lewy Body Dementia 7
Leydig Cell Hypoplasia, Type I 2
Li-Fraumeni Syndrome 20
Li-Fraumeni Syndrome 2 6
Liang-Wang syndrome 7
Liberfarb syndrome 3
Lichtenstein-Knorr syndrome 3
Liddle Syndrome 5
Liddle syndrome 2 1
Liddle syndrome 3 1
Liebenberg Syndrome 5
Lig4 Syndrome 8
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 6
Limb-Girdle Muscular Dystrophy, Type 2G 8
Limb-Girdle Muscular Dystrophy, Type 2H 8
Limb-Girdle Muscular Dystrophy, Type 2Y 4
Limb-Mammary Syndrome 11
Linear Skin Defects with Multiple Congenital Anomalies 2 4
Linear skin defects with multiple congenital anomalies 3 4
Lipase Deficiency Combined 2
Lipid Proteinosis 1
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 3
Lipodystrophy, Congenital Generalized, Type 3 7
Lipodystrophy, Congenital Generalized, Type 4 7
Lipodystrophy, Familial Partial, Type 2 8
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 5
Lissencephaly 1 9
Lissencephaly 10 2
Lissencephaly 2 8
Lissencephaly 3 8
Lissencephaly 4 8
Lissencephaly 5 5
Lissencephaly 6, with microcephaly 7
Lissencephaly 7 with cerebellar hypoplasia 3
Lissencephaly 8 4
Lissencephaly 9 with complex brainstem malformation 5
Liver Cancer 9
Liver Failure Acute Infantile 3
Loeys-Dietz Syndrome 1 14
Loeys-Dietz Syndrome 2 18
Loeys-Dietz Syndrome 3 12
Loeys-Dietz Syndrome 4 13
Loeys-Dietz Syndrome 5 13
Long QT Syndrome 1 9
Long QT Syndrome 10 7
Long QT Syndrome 11 9
Long QT Syndrome 12 8
Long QT Syndrome 13 7
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 4
Long QT Syndrome 9 9
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 11
Lowe Syndrome 12
Lower urinary tract obstruction, congenital 1
Lowry-Wood syndrome 2
Lucey-Driscoll Syndrome 2
Lujan-Fryns Syndrome 15
Lung Cancer 19
Lung disease, immunodeficiency, and chromosome breakage syndrome 2
Luscan-Lumish Syndrome 6
Lymphangioleiomyomatosis 5
Lymphatic malformation 7 3
Lymphedema, Hereditary, ID 1
Lymphedema, Hereditary, III 6
Lymphedema, Primary, With Myelodysplasia 8
Lymphoproliferative Syndrome 2 3
Lymphoproliferative syndrome 3 1
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 6
Lymphoproliferative Syndrome, X-Linked, 1 9
Lymphoproliferative Syndrome, X-Linked, 2 8
Lynch Syndrome I 15
Lynch Syndrome II 13
Lysinuric Protein Intolerance 6
Lysosomal Acid Lipase Deficiency 8
Macrocephaly, acquired, with impaired intellectual development 2
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis 6
Macrocephaly, dysmorphic facies, and psychomotor retardation 4
Macrocephaly/Autism Syndrome 13
Macrocephaly/megalencephaly syndrome, autosomal recessive 2
Macrodactyly, somatic 6
Macroglobulinemia, Waldenstrom, somatic 1
Macrothrombocytopenia And Progressive Sensorineural Deafness 2
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 5
Macular Corneal Dystrophy Type I 5
Macular degeneration, age-related, 13, susceptibility to 1
Macular degeneration, age-related, 14, reduced risk of 3
Macular degeneration, age-related, 15, susceptibility to 1
Macular Degeneration, Age-Related, 2 3
Macular Degeneration, Early-Onset 4
Macular Degeneration, X-Linked Atrophic 9
Macular Dystrophy with Central Cone Involvement 7
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 5
Malaria, Susceptibility To Malaria, Resistance To, Included 5
Malignant Hyperthermia 7
Malignant Hyperthermia Susceptibility Type 5 4
Malignant Mesothelioma 9
Malonyl-CoA Decarboxylase Deficiency 9
Malouf Syndrome 12
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 5
Mandibuloacral Dysplasia With Type A Lipodystrophy 8
Mandibuloacral Dysplasia With Type B Lipodystrophy 5
Mandibulofacial dysostosis with alopecia 1
Mandibulofacial dysostosis, Guion-Almeida type 12
Manitoba Oculotrichoanal Syndrome 12
Mannose-Binding Protein Deficiency 4
Maple Syrup Urine Disease 10
Maple syrup urine disease, mild variant 1
Marden Walker Like Syndrome 1
Marden-Walker Syndrome 4
Marfan lipodystrophy syndrome 16
Marfan Syndrome 23
Marinesco-Sjogren Syndrome 10
Marshall Syndrome 14
Marshall-Smith Syndrome 5
Martsolf Syndrome 7
MASA Syndrome 8
Masp2 Deficiency 3
Mass Syndrome 16
Mast Syndrome 5
Maturity-Onset Diabetes Of The Young, Type 1 9
Maturity-Onset Diabetes Of The Young, Type 10 6
Maturity-Onset Diabetes Of The Young, Type 11 5
Maturity-onset diabetes of the young, type 13 3
Maturity-Onset Diabetes Of The Young, Type 14 4
Maturity-Onset Diabetes Of The Young, Type 2 5
Maturity-Onset Diabetes Of The Young, Type 3 7
Maturity-Onset Diabetes Of The Young, Type 4 8
Maturity-Onset Diabetes Of The Young, Type 5 16
Maturity-Onset Diabetes Of The Young, Type 6 4
Maturity-Onset Diabetes Of The Young, Type 7 4
Maturity-Onset Diabetes Of The Young, Type 9 5
May-Hegglin Anomaly 11
Mckusick Kaufman Syndrome 13
McLeod Syndrome 4
Meacham Syndrome 7
Meckel Syndrome 1 15
Meckel Syndrome 10 11
Meckel syndrome 11 10
Meckel Syndrome 12 10
Meckel Syndrome 13 9
Meckel Syndrome 2 14
Meckel Syndrome 3 13
Meckel Syndrome 4 15
Meckel Syndrome 5 16
Meckel Syndrome 6 17
Meckel Syndrome 7 12
Meckel Syndrome 8 14
Meckel Syndrome 9 13
Meconium ileus 5
MECP2 Duplication Syndrome 9
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 8
MEDNIK Syndrome 4
Medullary Cystic Kidney Disease 1 4
Medullary Cystic Kidney Disease 2 3
Medulloblastoma 14
Meesmann Corneal Dystrophy 4
Meester-Loeys syndrome 4
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 2
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts 7
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A 8
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation 8
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 10
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 10
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 11
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 9
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency 5
Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3
Megalocornea 1, X-linked 1
MEHMO Syndrome 3
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 3
Melanoma, Cutaneous Malignant 2 5
Melanoma, Cutaneous Malignant 3 5
Melanoma, Cutaneous Malignant, 9 8
Melanoma, Cutaneous Malignant, Susceptibility to, 10 5
Melanoma, cutaneous malignant, susceptibility to, 8 7
Melanoma-Pancreatic Cancer Syndrome 4
Melnick-Needles Syndrome 16
Melorheostosis 1
MEND Syndrome 9
Meningioma, Familial 18
Menke-Hennekam syndrome 1 11
Menke-Hennekam syndrome 2 9
Menkes Kinky-Hair Syndrome 9
Mental Retardation 105 2
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 8
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 11
Mental Retardation With Language Impairment And Autistic Features 9
Mental Retardation, Anterior Maxillary Protrusion, And Strabismus 1
Mental Retardation, Autosomal Dominant 1 10
Mental Retardation, Autosomal Dominant 11 1
Mental Retardation, Autosomal Dominant 13; MRD13 10
Mental Retardation, Autosomal Dominant 18 4
Mental Retardation, Autosomal dominant 19 5
Mental Retardation, Autosomal Dominant 21 6
Mental retardation, autosomal dominant 22 5
Mental Retardation, Autosomal Dominant 23 8
Mental Retardation, Autosomal Dominant 24 6
Mental Retardation, Autosomal Dominant 26 4
Mental Retardation, Autosomal Dominant 29 7
Mental Retardation, Autosomal Dominant 3 1
Mental Retardation, Autosomal Dominant 30 3
Mental Retardation, Autosomal Dominant 31 8
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 5
Mental Retardation, Autosomal Dominant 39 4
Mental retardation, autosomal dominant 40 6
Mental Retardation, Autosomal Dominant 41 5
Mental Retardation, Autosomal Dominant 42 3
Mental Retardation, Autosomal Dominant 43 5
Mental Retardation, Autosomal Dominant 44 4
Mental retardation, autosomal dominant 45 3
Mental retardation, autosomal dominant 46 3
Mental retardation, autosomal dominant 47 2
Mental retardation, autosomal dominant 48 2
Mental Retardation, Autosomal Dominant 49 5
Mental Retardation, Autosomal Dominant 5 7
Mental Retardation, Autosomal Dominant 50 4
Mental Retardation, Autosomal Dominant 51 3
Mental Retardation, Autosomal Dominant 52 5
Mental retardation, autosomal dominant 53 1
Mental retardation, autosomal dominant 54 3
Mental Retardation, Autosomal Dominant 55, with Seizures 4
Mental Retardation, Autosomal Dominant 56 5
Mental retardation, autosomal dominant 57 3
Mental retardation, autosomal dominant 58 1
Mental retardation, autosomal dominant 59 1
Mental Retardation, Autosomal Dominant 6 10
Mental Retardation, Autosomal Dominant 7 8
Mental Retardation, Autosomal Dominant 8 6
Mental Retardation, Autosomal Dominant 9 7
Mental Retardation, Autosomal Dominant, 27 8
Mental Retardation, Autosomal Recessive 1 1
Mental Retardation, Autosomal Recessive 12 5
Mental Retardation, Autosomal Recessive 13 4
Mental Retardation, Autosomal Recessive 14 2
Mental Retardation, Autosomal Recessive 15 4
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 2
Mental retardation, autosomal recessive 41 3
Mental retardation, autosomal recessive 42 4
Mental Retardation, Autosomal Recessive 43 1
Mental Retardation, Autosomal Recessive 44 1
Mental retardation, autosomal recessive 45 1
Mental Retardation, Autosomal Recessive 46 2
Mental Retardation, Autosomal Recessive 47 2
Mental retardation, autosomal recessive 48 2
Mental retardation, autosomal recessive 49 2
Mental retardation, autosomal recessive 5 3
Mental retardation, autosomal recessive 50 1
Mental retardation, autosomal recessive 51 1
Mental Retardation, Autosomal Recessive 53 6
Mental retardation, autosomal recessive 54 1
Mental retardation, autosomal recessive 55 2
Mental Retardation, Autosomal Recessive 56 1
Mental retardation, autosomal recessive 57 4
Mental Retardation, Autosomal Recessive 58 2
Mental retardation, autosomal recessive 59 1
Mental Retardation, Autosomal Recessive 6 4
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 2
Mental retardation, autosomal recessive 67 2
Mental retardation, autosomal recessive 68 1
Mental Retardation, Autosomal Recessive 7 3
Mental retardation, autosomal recessive, 37 3
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 9
Mental Retardation, X-linked 100 3
Mental Retardation, X-linked 101 2
Mental Retardation, X-Linked 102 11
Mental Retardation, X-linked 103 2
Mental Retardation, X-linked 104 2
Mental retardation, X-linked 106 3
Mental retardation, X-linked 107 2
Mental Retardation, X-linked 12/35 3
Mental Retardation, X-Linked 19 4
Mental Retardation, X-Linked 21 4
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) 7
Mental Retardation, X-Linked 30 4
Mental Retardation, X-Linked 41 2
Mental Retardation, X-Linked 46 1
Mental Retardation, X-linked 49 8
Mental Retardation, X-Linked 58 2
Mental Retardation, X-linked 61 4
Mental Retardation, X-Linked 63 4
Mental Retardation, X-Linked 72 8
Mental Retardation, X-Linked 9 2
Mental Retardation, X-Linked 90 4
Mental Retardation, X-Linked 93 4
Mental Retardation, X-Linked 96 2
Mental Retardation, X-Linked 97 2
Mental Retardation, X-linked 98 7
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 9
Mental Retardation, X-Linked, Syndromic 14 6
Mental Retardation, X-linked, Syndromic 32 1
Mental Retardation, X-linked, Syndromic 33 8
Mental Retardation, X-linked, Syndromic 34 4
Mental Retardation, X-linked, Syndromic, 35 4
Mental Retardation, X-linked, Syndromic, Bain Type 4
Mental Retardation, X-Linked, Syndromic, Christianson Type 10
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 9
Mental Retardation, X-Linked, Syndromic, Hedera Type 6
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 5
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related 12
Mental Retardation, X-Linked, With Panhypopituitarism 6
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait 10
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 14
Merosin Deficient Congenital Muscular Dystrophy 11
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 3
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 8
Metabolic Syndrome X 2
Metacarpal 4-5 fusion 3
Metachondromatosis 12
Metachromatic Leukodystrophy 9
Metaphyseal Anadysplasia 2 1
Metaphyseal Chondrodysplasia, Jansen Type 3
Metaphyseal Chondrodysplasia, Mckusick Type 5
Metaphyseal Chondrodysplasia, Schmid Type 3
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 1
Metaphyseal Dysplasia Without Hypotrichosis 5
Metaphyseal Dysplasia, Spahr Type 1
Metatropic Dwarfism 5
Methemoglobinemia 5
Methemoglobinemia and Ambiguous Genitalia 3
Methemoglobinemia, alpha type 3
Methemoglobinemia, beta type 1
Methionine Adenosyltransferase I/III Deficiency 5
Methylmalonate Semialdehyde Dehydrogenase Deficiency 7
Methylmalonic Aciduria and Homocystinuria, cblC Type 10
Methylmalonic Aciduria and Homocystinuria, cblD Type 9
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 8
Methylmalonic Aciduria Due To Transcobalamin Receptor Defect 5
Methylmalonyl-CoA Epimerase Deficiency 4
Mevalonic Aciduria 9
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 11
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 8
Microcephaly 10, primary, autosomal recessive 4
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 4
Microcephaly 16, primary, autosomal recessive 4
Microcephaly 18, Primary, Autosomal Dominant