TESTS BY DISEASE

Tests Found:

3868

Disease Name Number of Tests Offered
2-Methyl-3-Hydroxybutyric Aciduria 1
2-Methylbutyryl-CoA Dehydrogenase Deficiency 1
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency 4
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of 4
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 4
3-M Syndrome 2
3-Methylcrotonyl CoA Carboxylase 2 Deficiency 5
3-Methylglutaconic Aciduria 3
3-Methylglutaconic Aciduria Type 2 11
3-Methylglutaconic Aciduria Type 3 5
3-Methylglutaconic Aciduria Type V 1
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome 2
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 1
3-methylglutaconic aciduria, type VIII 1
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency 6
3MC syndrome 1 1
46, XX sex reversal 4 2
46,XX Sex Reversal, Type 1 7
46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 2
46,XY Sex Reversal 8 5
46,XY Sex Reversal, Type 1 3
46,XY Sex Reversal, Type 2 2
46,XY Sex Reversal, Type 3 5
46,XY Sex Reversal, Type 5 4
46,XY Sex Reversal, Type 6 6
46,XY Sex Reversal, Type 7 6
46XY Sex Reversal 9 4
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 2
?Al-Gazali-Bakalinova syndrome 2
?Arthrogryposis, Perthes disease, and upward gaze palsy 1
?Avascular necrosis of femoral head, primary, 2 2
?Cerebellar atrophy, developmental delay, and seizures 1
?Complement factor B deficiency 1
?Deafness, congenital heart defects, and posterior embryotoxon 1
?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 1
?Epidermolysis bullosa simplex with nail dystrophy 2
?Epileptic encephalopathy, early infantile, 61 1
?Familial cold autoinflammatory syndrome 4 1
?Fanconi renotubular syndrome 3 1
?Immunodeficiency 16 1
?Immunodeficiency 22 1
?Immunodeficiency 37 1
?Immunodeficiency 39 1
?Immunodeficiency 45 1
?Immunodeficiency 49 1
?Immunodeficiency 53 1
?Immunodeficiency, common variable, 11 3
?Immunodeficiency, common variable, 14 3
?Inflammatory skin and bowel disease, neonatal, 2 1
?Microcephaly 13, primary, autosomal recessive 1
?Microhydranencephaly 1
?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 1
?Myasthenic syndrome, congenital, 3A, slow-channel 1
?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 1
?Myopathy, scapulohumeroperoneal 1
?Obesity, susceptibility to, BMIQ18 1
?Olmsted syndrome, X-linked 1
?Optic atrophy 9 1
?PEHO syndrome-like 1
?Peroxisome biogenesis disorder 10B 1
?Polyendocrine-polyneuropathy syndrome 1
?Polymicrogyria, bilateral temporooccipital 3
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 2
?Seckel syndrome 7 1
?Seckel syndrome 8 3
?Seizures, scoliosis, and macrocephaly syndrome 1
?Split-hand/foot malformation 1 with sensorineural hearing loss 1
?Spondylocostal dysostosis 6 1
Aarskog Syndrome 4
ABCD Syndrome 2
Abdominal obesity-metabolic syndrome 3 1
Ablepharon-macrostomia syndrome 1
Aceruloplasminemia 3
Acetylation, Slow 1
Acheiropody 1
Achondrogenesis Type 2 5
Achondrogenesis, Type Ia 2
Achondrogenesis, Type Ib 5
Achondroplasia 7
Achromatopsia 2 3
Achromatopsia 3 3
Achromatopsia 4 4
Achromatopsia 7 2
Acne Inversa, Familial, 2 1
Acne Inversa, Familial, 3 1
Acrocallosal Syndrome, Schinzel Type 6
Acrocapitofemoral Dysplasia 1
Acrodysostosis 2
Acrodysostosis 2, with or without Hormone Resistance 4
Acrofacial Dysostosis 1, Nager Type 5
Acromesomelic Dysplasia Hunter Thompson Type 2
Acromesomelic Dysplasia Maroteaux Type 1
Acromicric Dysplasia 1
ACTH-independent macronodular adrenal hyperplasia 1
Acute Alcohol Sensitivity 1
Acute Intermittent Porphyria 3
Acute Lymphoblastic Leukemia 1
Adams-Oliver Syndrome 1 4
Adams-Oliver Syndrome 2 5
Adams-Oliver Syndrome 3 2
Adams-Oliver Syndrome 4 2
Adams-Oliver Syndrome 5 3
Adams-Oliver Syndrome 6 2
Adenine Phosphoribosyltransferase Deficiency 1
Adenomatous Polyposis Coli 6
Adenylosuccinate Lyase Deficiency 5
Adolescent Nephronophthisis 5
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency 1
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency 3
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 6
Adrenocortical Carcinoma, Hereditary 2
Adrenoleukodystrophy 8
Adult Hypophosphatasia 5
Adult Onset Ataxia With Oculomotor Apraxia 6
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 1
ADULT Syndrome 3
Afibrinogenemia 1
Afibrinogenemia, congenital 8
Agammaglobulinemia 1 3
Agammaglobulinemia 2, Autosomal Recessive 2
Agammaglobulinemia 3, Autosomal Recessive 3
Agammaglobulinemia 4, Autosomal Recessive 3
Agammaglobulinemia 5, Autosomal Dominant 2
Agammaglobulinemia 6, Autosomal Recessive 3
Agammaglobulinemia 7, Autosomal Recessive 3
Agammaglobulinemia 8, autosomal dominant 2
AGAT Deficiency 4
Age-Related Macular Degeneration 1 1
Age-Related Macular Degeneration 4 1
Age-Related Macular Degeneration 5 1
Age-Related Macular Degeneration 6 2
Agnathia-Otocephaly Complex 2
Aicardi-Goutieres Syndrome 1 3
Aicardi-Goutieres Syndrome 2 4
Aicardi-Goutieres Syndrome 3 4
Aicardi-Goutieres Syndrome 4 4
Aicardi-Goutieres Syndrome 5 4
Aicardi-Goutieres Syndrome 6 3
Aicardi-Goutieres Syndrome 7 3
Al-Raqad Syndrome 1
Alacrima, Achalasia, and Mental Retardation Syndrome 1
Alagille Syndrome 1 7
Alagille Syndrome 2 6
Aland Island Eye Disease 4
Alazami Syndrome 2
Alazami-Yuan Syndrome 2
Albinism, Ocular, With Sensorineural Deafness 5
Albinism, Oculocutaneous, Type VII 3
Alexander Disease 3
Alkaptonuria 1
Allan-Herndon-Dudley Syndrome 7
Alpha Thalassemia 5
Alpha-1-Antitrypsin Deficiency 2
Alpha-B Crystallinopathy 5
Alpha-Methylacetoacetic Aciduria 4
Alpha-Methylacyl-CoA Racemase Deficiency 1
Alpha-Thalassemia Myelodysplasia Syndrome 2
Alport Syndrome, Autosomal Dominant 4
Alport Syndrome, Autosomal Recessive 6
Alport Syndrome, X-Linked Recessive 4
Alstrom Syndrome 5
Alternating Hemiplegia Of Childhood 2
Alternating Hemiplegia of Childhood 2 2
Alzheimer Disease 9, Susceptibility to 1
Alzheimer Disease, Type 3 3
Alzheimer Disease, Type 4 5
Alzheimer's Disease 3
Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome 1
Amelogenesis Imperfecta, Hypomaturation Type, IIa1 2
Amelogenesis Imperfecta, Hypomaturation Type, IIa2 2
Amelogenesis Imperfecta, Hypomaturation Type, IIa3 2
Amelogenesis imperfecta, hypomaturation type, IIA4 2
Amelogenesis Imperfecta, Hypomaturation Type, IIA6 1
Amelogenesis Imperfecta, Type IA 1
Amelogenesis Imperfecta, Type Ib 2
Amelogenesis Imperfecta, Type Ic 2
Amelogenesis Imperfecta, Type Ie 3
Amelogenesis Imperfecta, Type IG (Enamel-Renal Syndrome) 3
Amelogenesis Imperfecta, Type IH 1
Amelogenesis Imperfecta, Type IIA5 1
Amelogenesis Imperfecta, Type III 2
Amelogenesis Imperfecta, Type IV 3
Aminoacylase 1 Deficiency 4
Amish Infantile Epilepsy Syndrome 4
Aml - Acute Myeloid Leukemia 7
Amyloidogenic Transthyretin Amyloidosis 7
Amyloidosis, Finnish Type 2
Amyotrophic Lateral Sclerosis 16, Juvenile 1
Amyotrophic Lateral Sclerosis Type 1 4
Amyotrophic Lateral Sclerosis Type 10 5
Amyotrophic Lateral Sclerosis Type 11 3
Amyotrophic Lateral Sclerosis Type 12 2
Amyotrophic Lateral Sclerosis Type 14 2
Amyotrophic Lateral Sclerosis Type 15 3
Amyotrophic Lateral Sclerosis Type 17 2
Amyotrophic Lateral Sclerosis Type 18 2
Amyotrophic Lateral Sclerosis Type 2 2
Amyotrophic Lateral Sclerosis Type 20 3
Amyotrophic Lateral Sclerosis Type 4 2
Amyotrophic Lateral Sclerosis Type 6 4
Amyotrophic Lateral Sclerosis Type 8 2
Amyotrophic Lateral Sclerosis Type 9 2
Amyotrophic lateral sclerosis, susceptibility to, 24 1
Amyotrophic Lateral Sclerosis, Susceptibility to, 25 1
Amytrophic Lateral Sclerosis 23 3
Anauxetic Dysplasia 3
Anauxetic dysplasia 2 1
Andermann Syndrome 2
Andersen Tawil Syndrome 7
Androgen Resistance Syndrome 7
Anemia, neonatal hemolytic, fatal or near-fatal 1
Angelman Syndrome 6
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 2
Anterior Segment Mesenchymal Dysgenesis 4
Anti-Plasmin Deficiency, Congenital 3
Antithrombin III Deficiency 1
Antley-Bixler Syndrome 7
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis 8
Aortic Aneurysm, Familial Thoracic 10 2
Aortic Aneurysm, Familial Thoracic 11, susceptibility to 3
Aortic Aneurysm, Familial Thoracic 4 4
Aortic Aneurysm, Familial Thoracic 6 5
Aortic Aneurysm, Familial Thoracic 7 4
Aortic Aneurysm, Familial Thoracic 8 3
Aortic Aneurysm, Familial Thoracic 9 2
Aortic Valve Disorder 3
Apert Syndrome 8
Aphakia, Congenital Primary 4
Aplasia Of Lacrimal And Salivary Glands 2
Aplastic Anemia 1
Apolipoprotein C2 Deficiency 1
Apparent Mineralocorticoid Excess 2
Arginase Deficiency 4
Argininosuccinate Lyase Deficiency 3
Aromatase Deficiency 2
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 5
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 6
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 9
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 7
Arterial Calcification Of Infancy 5
Arterial Calcification, Generalized, of Infancy, 2 3
Arterial Tortuosity Syndrome 3
Arthrogryposis Multiplex Congenita Distal Type 1 4
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 3
Arthrogryposis, Distal, Type 1B 2
Arthrogryposis, Distal, Type 2B 10
Arthrogryposis, Distal, Type 3 3
Arthrogryposis, Distal, Type 5 3
Arthrogryposis, distal, type 5D 5
Arthrogryposis, Distal, Type 7 1
Arthrogryposis, Distal, Type 8 2
Arthrogryposis, Distal, with Impaired Proprioception and Touch 1
Arthrogryposis, Mental Retardation, and Seizures 1
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 3
Arts Syndrome 3
Aspartylglycosaminuria 3
Asperger Syndrome, X-Linked, Susceptibility To, 1 2
Asperger Syndrome, X-Linked, Susceptibility To, 2 3
Asplenia, isolated congenital 1
Ataxia With Vitamin E Deficiency 1
Ataxia-Oculomotor Apraxia 3 1
Ataxia-Pancytopenia Syndrome 4
Ataxia-Telangiectasia Syndrome 14
Ataxia-Telangiectasia-Like Disorder 8
Atelosteogenesis, type I 2
Atelosteogenesis, Type II 5
Atelosteogenesis, type III 2
Athabaskan Brainstem Dysgenesis 2
ATR-X Syndrome 12
Atrial Fibrillation, Familial, 10 5
Atrial Fibrillation, Familial, 11 4
Atrial Fibrillation, Familial, 12 8
Atrial Fibrillation, Familial, 13 3
Atrial Fibrillation, Familial, 14 5
Atrial Fibrillation, Familial, 18 2
Atrial Fibrillation, Familial, 3 6
Atrial Fibrillation, Familial, 4 5
Atrial Fibrillation, Familial, 6 4
Atrial Fibrillation, Familial, 7 5
Atrial Fibrillation, Familial, 9 5
Atrial Myxoma, Familial 4
Atrial Septal Defect 2 4
Atrial Septal Defect 3 6
Atrial Septal Defect 5 5
Atrial Septal Defect With Atrioventricular Conduction Defects 6
Atrioventricular Septal Defect 1
Atrioventricular Septal Defect 2 1
Atrioventricular Septal Defect 4 4
Atypical Hemolytic-Uremic Syndrome 1 1
Atypical Hemolytic-Uremic Syndrome 2 1
Atypical Hemolytic-Uremic Syndrome 3 1
Atypical Hemolytic-Uremic Syndrome 4 1
Atypical Hemolytic-Uremic Syndrome 5 1
Atypical Hemolytic-Uremic Syndrome 6 1
Atypical Mycobacteriosis, Familial 1
Atypical Mycobacteriosis, Familial, X-Linked 2 2
Auriculocondylar syndrome 1 1
Auriculocondylar syndrome 2 1
Autism 10 1
Autism 15 1
Autism 17 1
Autism Susceptibility 1 3
Autism, Susceptibility to, 18 2
Autism, Susceptibility To, X-Linked 1 2
Autism, Susceptibility To, X-Linked 2 6
Autism, Susceptibility To, X-Linked 3 1
Autism, Susceptibility to, X-linked 4 3
Autism, Susceptibility To, X-Linked 5 1
Autism, Susceptibility to, X-linked 6 1
Autoimmune Disease, Multisystem, Infantile-Onset, 1 3
Autoimmune disease, multisystem, infantile-onset, 2 1
Autoimmune Disease, Syndromic Multisystem 1
Autoimmune interstitial lung, joint, and kidney disease 1
Autoimmune Lymphoproliferative Syndrome 3
Autoimmune Lymphoproliferative Syndrome, Type 2 2
Autoimmune Lymphoproliferative Syndrome, Type III 4
Autoimmune Lymphoproliferative Syndrome, Type V 2
Autoimmune Thyroid Disease 3 1
Autoinflammation with Infantile Enterocolitis 2
Autoinflammation, antibody deficiency, and immune dysregulation syndrome 2
Autoinflammation, panniculitis, and dermatosis syndrome 1
Autoinflammatory Syndrome, Familial, Behcet-like 2
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E 5
Autosomal Recessive Centronuclear Myopathy 4
Autosomal Recessive Cutis Laxa Type 3A 3
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 3
Autosomal Recessive Hypophosphatemic Bone Disease 5
Avascular Necrosis Of Femoral Head, Primary 5
Avellino Corneal Dystrophy 2
Axenfeld-Rieger Syndrome Type 3 4
Axenfeld-Rieger syndrome, type 1 7
Ayme-Gripp Syndrome 2
B-cell expansion with NFKB and T-cell anergy 1
Bainbridge-Ropers Syndrome 2
Baller-Gerold Syndrome 4
Bamforth Syndrome 1
Band Heterotopia 2
Bannayan-Riley-Ruvalcaba Syndrome 10
Baraitser-Winter Syndrome 1 2
Baraitser-Winter Syndrome 2 1
Barakat Syndrome 3
Barber-Say Syndrome 3
Bardet-Biedl Syndrome 1 9
Bardet-Biedl Syndrome 10 10
Bardet-Biedl Syndrome 11 10
Bardet-Biedl Syndrome 12 9
Bardet-Biedl Syndrome 13 8
Bardet-Biedl Syndrome 14 6
Bardet-Biedl Syndrome 15 4
Bardet-Biedl Syndrome 16 6
Bardet-Biedl Syndrome 17 4
Bardet-Biedl Syndrome 18 4
Bardet-Biedl Syndrome 19 4
Bardet-Biedl Syndrome 2 8
Bardet-Biedl Syndrome 20 2
Bardet-Biedl Syndrome 21 2
Bardet-Biedl Syndrome 3 8
Bardet-Biedl Syndrome 4 9
Bardet-Biedl Syndrome 5 10
Bardet-Biedl Syndrome 6 11
Bardet-Biedl Syndrome 7 9
Bardet-Biedl Syndrome 8 8
Bardet-Biedl Syndrome 9 9
Bare Lymphocyte Syndrome, Type I 1
Bartter Syndrome Antenatal Type 1 4
Bartter Syndrome Antenatal Type 2 3
Bartter Syndrome Type 4 2
Basal cell carcinoma 7 1
Basal Cell Carcinoma, Multiple 1
Basal Ganglia Calcification, Idiopathic, 1 2
Basal Ganglia Calcification, Idiopathic, 4 3
Basal Ganglia Calcification, Idiopathic, 5 2
Basal Ganglia Calcification, Idiopathic, 6 2
Basal Ganglia Disease, Biotin-Responsive 7
Basel-Vanagait-Smirin-Yosef Syndrome 2
Becker Muscular Dystrophy 4
Beckwith-Wiedemann Syndrome 8
Behr Syndrome 3
Benign Familial Hematuria 2
Benign Familial Neonatal Seizures 1 1
Benign Familial Neonatal-Infantile Seizures 3
Benign Hereditary Chorea 1
Benign Recurrent Intrahepatic Cholestasis 1 3
Benign Recurrent Intrahepatic Cholestasis 2 2
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 5
Bent bone dysplasia syndrome 6
Bernard Soulier Syndrome 8
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 4
Bestrophinopathy, Autosomal Recessive 4
Beta-D-Mannosidosis 1
Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency 2
Bethlem Myopathy 3
Bethlem Myopathy 10
Bethlem Myopathy 2 7
BH4-Deficient Hyperphenylalaninemia D 3
Bietti Crystalline Corneoretinal Dystrophy 2
Bile Acid Synthesis Defect, Congenital, 1 3
Bile Acid Synthesis Defect, Congenital, 2 3
Bile Acid Synthesis Defect, Congenital, 3 1
Bile Acid Synthesis Defect, Congenital, 5 2
Birt-Hogg-Dube Syndrome 3
Bjornstad Syndrome 3
Bladder Cancer 2
Bleeding Disorder, Platelet-Type, 11 3
Bleeding Disorder, Platelet-Type, 13, Susceptibility To 3
Bleeding Disorder, Platelet-Type, 14 2
Bleeding Disorder, Platelet-Type, 15 2
Bleeding disorder, platelet-type, 16, autosomal dominant 2
Bleeding Disorder, Platelet-Type, 17 3
Bleeding Disorder, Platelet-Type, 19 2
Bleeding Disorder, Platelet-Type, 21 1
Bleeding Disorder, Platelet-Type, 8 4
Bleeding Disorder, Platelet-Type, 9 2
Blepharocheilodontic syndrome 1 1
Blepharocheilodontic syndrome 2 1
Blepharophimosis, Ptosis, And Epicanthus Inversus 5
Blood Group--Diego System 1
Blood Group--Froese 1
Blood Group--Lutheran Inhibitor 1
Blood Group--Swann System 1
Blood Group--Waldner Type 1
Blood Group--Wright Antigen 1
Bloom Syndrome 5
Body Mass Index Quantitative Trait Locus 12 2
Body Mass Index Quantitative Trait Locus 9 1
Bohring-Opitz Syndrome 2
Bone Marrow Failure Syndrome 1 4
Bone marrow failure syndrome 2 1
Bone Marrow Failure Syndrome 3 2
Bone Mineral Density QTL18, Osteoporosis 3
Boomerang Dysplasia 2
Borjeson-Forssman-Lehmann Syndrome 4
Bosch-Boonstra-Schaaf optic atrophy syndrome 3
Bosma arhinia microphthalmia syndrome 1
Bothnia Retinal Dystrophy 6
Brachydactyly Type A1 2
Brachydactyly Type A2 3
Brachydactyly Type C 3
Brachydactyly, type A1, C 2
Brachydactyly, Type B1 3
Brachydactyly, Type B2 3
Brachydactyly, Type D 1
Brachydactyly, Type E1 1
Brachydactyly, Type E2 1
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 2
Brachyolmia Type 3 3
Brain Small Vessel Disease With Hemorrhage 3
Branched-chain ketoacid dehydrogenase kinase deficiency 5
Branchiooculofacial Syndrome 2
Branchiootic syndrome 1 4
Branchiootic Syndrome 3 5
Branchiootorenal Syndrome 1, with or without Cataracts 4
Branchiootorenal Syndrome 2 4
Breast-Ovarian Cancer, Familial 1 11
Breast-Ovarian Cancer, Familial 2 12
Breast-Ovarian Cancer, Familial 3 5
Breast-Ovarian Cancer, Familial 4 7
Brittle Cornea Syndrome 1 4
Brittle Cornea Syndrome 2 4
Brody Myopathy 1
Bronchiectasis 2
Bronchiectasis With Or Without Elevated Sweat Chloride 2 1
Bronchiectasis With Or Without Elevated Sweat Chloride 3 1
Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere syndrome 2 2
Bruck Syndrome 2 4
Brugada Syndrome 1 6
Brugada Syndrome 2 6
Brugada Syndrome 3 5
Brugada Syndrome 4 7
Brugada Syndrome 5 4
Brugada Syndrome 6 6
Brugada Syndrome 7 5
Brugada Syndrome 8 5
Brugada Syndrome 9 4
Bulbo-Spinal Atrophy X-Linked 2
Burn-McKeown Syndrome 1
Butyrylcholinesterase Deficiency 1
C Syndrome 1
C1q Deficiency 1
Caffey Disease 3
Camptodactyly, Tall Stature, And Hearing Loss Syndrome 7
Camptomelic Dysplasia 8
Camptosynpolydactyly, Complex 2
Camurati-Engelmann Disease 2
Candidiasis, Familial, 2 1
Candidiasis, Familial, 5 1
Candidiasis, Familial, 6 1
Candidiasis, Familial, 7 1
Candidiasis, familial, 9 1
CAPOS syndrome 1
CARASIL Syndrome 3
Carbohydrate-Deficient Glycoprotein Syndrome Type II 1
Carcinoid Tumors, Intestinal 4
Cardiac Conduction Disease with or without Dilated Cardiomyopathy 1
Cardiac Valvular Dysplasia, X-Linked 5
Cardio-Facio-Cutaneous Syndrome 4
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 7
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 4
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 3
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 3
Cardiofaciocutaneous syndrome 2 5
Cardiofaciocutaneous syndrome 3 5
Cardiofaciocutaneous syndrome 4 5
Cardiomyopathy Dilated With Woolly Hair And Keratoderma 6
Cardiomyopathy, Dilated, 1gg 1
Cardiomyopathy, Dilated, 1Hh 5
Cardiomyopathy, dilated, 1II 4
Cardiomyopathy, dilated, 1JJ 4
Cardiomyopathy, Dilated, 1KK 4
Cardiomyopathy, Dilated, 2B 3
Cardiomyopathy, Dilated, 3B 5
Cardiomyopathy, familial hypertrophic 1
Cardiomyopathy, Familial Hypertrophic, 17 4
Cardiomyopathy, Familial Hypertrophic, 19 2
Cardiomyopathy, familial restrictive 5 1
Cardiomyopathy, Familial Restrictive, 1 3
Cardiomyopathy, Familial Restrictive, 3 3
Cardiospondylocarpofacial Syndrome 1
Carney Complex Variant 1
Carney Complex, Type 1 6
Carnitine Palmitoyltransferase I Deficiency 5
Carnitine Palmitoyltransferase II Deficiency, Infantile 5
Carnitine Palmitoyltransferase II Deficiency, Late-Onset 5
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 5
Carnitine-Acylcarnitine Translocase Deficiency 5
Carpenter Syndrome 2
Carpenter Syndrome 2 1
Caspase-8 Deficiency 2
Cataract 10 2
Cataract 11 2
Cataract 12 1
Cataract 13 1
Cataract 14 2
Cataract 15 2
Cataract 16 2
Cataract 17 2
Cataract 18 1
Cataract 19 2
Cataract 2 2
Cataract 20 1
Cataract 21 3
Cataract 22 2
Cataract 23 3
Cataract 3 2
Cataract 30 1
Cataract 31 2
Cataract 33 2
Cataract 34, multiple types 1
Cataract 36 1
Cataract 38 2
Cataract 39 2
Cataract 4 1
Cataract 41 1
Cataract 47 1
Cataract 5 1
Cataract 6 1
Cataract 9 2
Cataract, Congenital, X-Linked 3
Cataract, Zonular Pulverulent 1 2
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 2
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 8
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 5
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness 4
Catel-Manzke Syndrome 2
CATSPER-Related Male Infertility 4
Cd59 Deficiency 1
Cd8 Deficiency, Familial 1
Celiac Disease 1
Central Core Disease 6
Central Precocious Puberty 1
Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency 5
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 1
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation 3
Cerebral Amyloid Angiopathy, App-Related 2
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 2
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 3
Cerebral Cavernous Malformations 1 4
Cerebral Cavernous Malformations 2 3
Cerebral Cavernous Malformations 3 2
Cerebral Creatine Deficiency Syndrome 1 5
Cerebral Folate Deficiency 8
Cerebral Palsy, Spastic Quadriplegic, 1 2
Cerebral Palsy, Spastic Quadriplegic, 2 2
Cerebro-Oculo-Facio-Skeletal Syndrome 2
Cerebrocostomandibular syndrome 1
Cerebrooculofacioskeletal Syndrome 2 1
Cerebrooculofacioskeletal syndrome 3 2
Cerebrooculofacioskeletal Syndrome 4 2
Cerebroretinal Microangiopathy with Calcifications and Cysts 4
Cerebroretinal microangiopathy with calcifications and cysts 2 1
Cerebrotendinous Xanthomatosis 2
Ceroid Lipofuscinosis Neuronal 1 7
Ceroid Lipofuscinosis Neuronal 10 6
Ceroid Lipofuscinosis Neuronal 11 2
Ceroid Lipofuscinosis Neuronal 12 5
Ceroid Lipofuscinosis Neuronal 13 4
Ceroid Lipofuscinosis Neuronal 14 3
Ceroid Lipofuscinosis Neuronal 2 7
Ceroid Lipofuscinosis Neuronal 3 7
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 3
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant 4
Ceroid Lipofuscinosis Neuronal 5 6
Ceroid Lipofuscinosis Neuronal 6 6
Ceroid Lipofuscinosis Neuronal 7 6
Ceroid Lipofuscinosis Neuronal 8 5
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant 5
Cervical Cancer 2
Chanarin-Dorfman Syndrome 2
Char Syndrome 2
Charcot-Marie-Tooth Disease Dominant Intermediate 3 4
Charcot-Marie-Tooth Disease Type 2B 5
Charcot-Marie-Tooth Disease Type 2B1 7
Charcot-Marie-Tooth Disease Type 2B2 3
Charcot-Marie-Tooth Disease Type 2C 6
Charcot-Marie-Tooth Disease Type 2D 7
Charcot-Marie-Tooth Disease Type 2E 5
Charcot-Marie-Tooth Disease Type 2F 6
Charcot-Marie-Tooth Disease Type 2I 5
Charcot-Marie-Tooth Disease Type 2J 5
Charcot-Marie-Tooth Disease Type 2K 4
Charcot-Marie-Tooth disease, axonal, type 2A2B 1
Charcot-Marie-Tooth Disease, Axonal, Type 2O 5
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive 4
Charcot-Marie-Tooth Disease, Dominant Intermediate B 6
Charcot-Marie-Tooth Disease, Dominant Intermediate C 5
Charcot-Marie-Tooth Disease, Dominant Intermediate E 4
Charcot-Marie-Tooth Disease, Dominant Intermediate F 6
Charcot-Marie-Tooth Disease, Recessive Intermediate A 4
Charcot-Marie-Tooth Disease, Recessive Intermediate B 7
Charcot-Marie-Tooth Disease, Recessive Intermediate C 4
Charcot-Marie-Tooth Disease, Recessive Intermediate D 6
Charcot-Marie-Tooth Disease, Type 1A 4
Charcot-Marie-Tooth Disease, Type 1D 3
Charcot-Marie-Tooth Disease, Type 1E 4
Charcot-Marie-Tooth Disease, Type 1F 5
Charcot-Marie-Tooth Disease, Type 2A2 8
Charcot-Marie-Tooth Disease, Type 2L 7
Charcot-Marie-Tooth Disease, Type 2N 4
Charcot-Marie-Tooth Disease, Type 2Q 3
Charcot-Marie-Tooth Disease, Type 2R 5
Charcot-Marie-Tooth Disease, Type 2S 4
Charcot-Marie-Tooth Disease, Type 2T 1
Charcot-Marie-Tooth Disease, Type 2U 5
Charcot-Marie-Tooth Disease, Type 2Y 2
Charcot-Marie-Tooth Disease, Type 3 5
Charcot-Marie-Tooth Disease, Type 4A 4
Charcot-Marie-Tooth Disease, Type 4B1 6
Charcot-Marie-Tooth Disease, Type 4B2 6
Charcot-Marie-Tooth Disease, Type 4B3 6
Charcot-Marie-Tooth Disease, Type 4C 6
Charcot-Marie-Tooth Disease, Type 4D 5
Charcot-Marie-Tooth Disease, Type 4E 5
Charcot-Marie-Tooth Disease, Type 4F 4
Charcot-Marie-Tooth Disease, Type 4H 4
Charcot-Marie-Tooth Disease, Type 4J 8
Charcot-Marie-Tooth Disease, Type 4K 1
Charcot-Marie-Tooth Disease, Type Ib 5
Charcot-Marie-Tooth Disease, Type IC 4
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 4
Charcot-Marie-Tooth Disease, X-linked Dominant, 6 5
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 5
Charcot-Marie-Toothe Disease, Type 2P 3
CHARGE Association 12
Chediak-Higashi Syndrome 9
Cherubism 3
Child Syndrome 4
Childhood Hypophosphatasia 5
CHIME syndrome 1
Chitayat Syndrome 1
CHMP2B-Related Frontotemporal Dementia 3
Choanal Atresia And Lymphedema 1
Cholecystitis 1
Cholestasis Of Pregnancy 1
Cholestasis, intrahepatic, of pregnancy, 3 1
Cholestasis, Progressive Familial Intrahepatic 2 3
Cholestasis, Progressive Familial Intrahepatic 3 4
Cholestasis, Progressive Familial Intrahepatic 4 3
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency 5
Chondrocalcinosis 2 1
Chondrodysplasia Acromesomelic With Genital Anomalies 1
Chondrodysplasia Blomstrand Type 2
Chondrodysplasia Punctata 1, X-Linked Recessive 4
Chondrodysplasia Punctata 2 X-Linked Dominant 2
Chondrodysplasia with Joint Dislocations, Gpapp Type 2
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia 1
CHOPS Syndrome 4
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 4
Choroid Plexus Papilloma 4
Choroidal Dystrophy, Central Areolar 2 3
Choroideremia 7
Chromosome 9Q Deletion Syndrome 3
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 3
Chronic Infantile Neurological, Cutaneous And Articular Syndrome 5
Chudley-McCullough syndrome 2
Ciliary Dyskinesia, Primary, 1 8
Ciliary Dyskinesia, Primary, 10 6
Ciliary Dyskinesia, Primary, 11 4
Ciliary Dyskinesia, Primary, 12 4
Ciliary Dyskinesia, Primary, 13 6
Ciliary Dyskinesia, Primary, 14 6
Ciliary Dyskinesia, Primary, 15 6
Ciliary Dyskinesia, Primary, 16 5
Ciliary Dyskinesia, Primary, 17 5
Ciliary Dyskinesia, Primary, 18 5
Ciliary Dyskinesia, Primary, 19 5
Ciliary Dyskinesia, Primary, 2 6
Ciliary Dyskinesia, Primary, 20 5
Ciliary Dyskinesia, Primary, 21 4
Ciliary Dyskinesia, Primary, 22 5
Ciliary Dyskinesia, Primary, 23 3
Ciliary Dyskinesia, Primary, 24 4
Ciliary Dyskinesia, Primary, 25 4
Ciliary Dyskinesia, Primary, 26 5
Ciliary Dyskinesia, Primary, 27 4
Ciliary Dyskinesia, Primary, 28 4
Ciliary Dyskinesia, primary, 29 4
Ciliary Dyskinesia, Primary, 3 5
Ciliary Dyskinesia, Primary, 30 5
Ciliary Dyskinesia, Primary, 32 3
Ciliary Dyskinesia, Primary, 33 3
Ciliary Dyskinesia, Primary, 34 3
Ciliary Dyskinesia, Primary, 35 4
Ciliary Dyskinesia, Primary, 36 4
Ciliary Dyskinesia, Primary, 37 4
Ciliary Dyskinesia, Primary, 6 5
Ciliary Dyskinesia, Primary, 7 6
Ciliary Dyskinesia, Primary, 9 5
Citrin Deficiency 5
Citrullinemia Type I 3
Citrullinemia Type II 5
CK syndrome 4
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome 2
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 2
Cleidocranial Dysostosis 2
CLOVE syndrome, somatic 1
COACH Syndrome 6
Cockayne Syndrome Type I 4
Cockayne Syndrome, Type B 4
CODAS syndrome 1
Coenzyme Q10 Deficiency 7
Coenzyme Q10 Deficiency, Primary, 2 4
Coenzyme Q10 deficiency, primary, 3 6
Coenzyme Q10 Deficiency, Primary, 4 4
Coenzyme Q10 Deficiency, Primary, 5 6
Coenzyme Q10 deficiency, primary, 6 4
Coenzyme Q10 Deficiency, Primary, 7 3
Coenzyme Q10 Deficiency, Primary, 8 1
Coffin-Lowry Syndrome 2
Coffin-Siris Syndrome 1 7
Coffin-Siris Syndrome 2 3
Coffin-Siris Syndrome 3 3
Coffin-Siris Syndrome 4 4
Coffin-Siris Syndrome 5 3
Coffin-Siris syndrome 7 1
Cohen Syndrome 8
Cold-Induced Sweating Syndrome 3 1
Cole Disease 1
Cole-Carpenter Syndrome 1 2
Cole-Carpenter Syndrome 2 3
Coloboma Of Optic Disc 2
Coloboma, Ocular 2
Colorectal Cancer 1 2
Colorectal cancer, susceptibility to, 10 5
Colorectal cancer, susceptibility to, 12 4
Combined Cellular And Humoral Immune Defects With Granulomas 2
Combined D-2- and L-2-HydroxyGlutaric Aciduria 4
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 1
Combined Immunodeficiency, X-Linked 2
Combined Malonic And Methylmalonic Aciduria 5
Combined Oxidative Phosphorylation Deficiency 1 3
Combined Oxidative Phosphorylation Deficiency 10 1
Combined Oxidative Phosphorylation Deficiency 11 1
Combined Oxidative Phosphorylation Deficiency 12 3
Combined Oxidative Phosphorylation Deficiency 13 2
Combined oxidative phosphorylation deficiency 14 6
Combined Oxidative Phosphorylation Deficiency 15 5
Combined Oxidative Phosphorylation Deficiency 16 1
Combined Oxidative Phosphorylation Deficiency 17 1
Combined Oxidative Phosphorylation Deficiency 18 1
Combined Oxidative Phosphorylation Deficiency 19 1
Combined Oxidative Phosphorylation Deficiency 2 1
Combined Oxidative Phosphorylation Deficiency 20 1
Combined Oxidative Phosphorylation Deficiency 21 1
Combined Oxidative Phosphorylation Deficiency 22 2
Combined Oxidative Phosphorylation Deficiency 23 2
Combined Oxidative Phosphorylation Deficiency 24 2
Combined Oxidative Phosphorylation Deficiency 25 1
Combined Oxidative Phosphorylation Deficiency 26 1
Combined Oxidative Phosphorylation Deficiency 27 3
Combined Oxidative Phosphorylation Deficiency 3 3
Combined Oxidative Phosphorylation Deficiency 30 1
Combined Oxidative Phosphorylation Deficiency 34 1
Combined Oxidative Phosphorylation Deficiency 35 1
Combined Oxidative Phosphorylation Deficiency 4 2
Combined Oxidative Phosphorylation Deficiency 5 2
Combined Oxidative Phosphorylation Deficiency 6 5
Combined Oxidative Phosphorylation Deficiency 7 6
Combined Oxidative Phosphorylation Deficiency 9 2
Combined Saposin Deficiency 1
Common Variable Agammaglobulinemia 4
Complement Component 2 Deficiency 1
Complement Component 3 Deficiency, Autosomal Recessive 1
Complement Component 4, Partial Deficiency Of 1
Complement Component 6 Deficiency 1
Complement Component 7 Deficiency 1
Complement Component 8 Deficiency Type 1 1
Complement Component 8 Deficiency Type 2 1
Complement Component 9 Deficiency 1
Complement Component c1s Deficiency 2
Complement Factor D Deficiency 1
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 1
Cone Dystrophy 3 3
Cone Dystrophy 4 5
Cone-Rod Dystrophy 10 3
Cone-Rod Dystrophy 11 3
Cone-Rod Dystrophy 12 3
Cone-Rod Dystrophy 13 7
Cone-rod dystrophy 14 2
Cone-Rod Dystrophy 15 6
Cone-rod dystrophy 16 5
Cone-Rod Dystrophy 18 2
Cone-Rod Dystrophy 19 2
Cone-Rod Dystrophy 2 6
Cone-Rod Dystrophy 20 3
Cone-Rod Dystrophy 21 3
Cone-Rod Dystrophy 3 5
Cone-Rod Dystrophy 5 6
Cone-Rod Dystrophy 6 5
Cone-Rod Dystrophy 7 4
Cone-Rod Dystrophy 9 4
Cone-Rod Dystrophy and Hearing Loss 1
Cone-Rod Dystrophy X-Linked 3 5
Cone-Rod Dystrophy, X-Linked, 1 5
Congenital Amegakaryocytic Thrombocytopenia 4
Congenital Aniridia 4
Congenital Anomalies of Kidney and Urinary Tract 2 1
Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay 1
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to 4
Congenital Bilateral Absence Of The Vas Deferens 4
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 4
Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
Congenital Central Hypoventilation syndrome 13
Congenital Contractural Arachnodactyly 6
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 2
Congenital Cystic Disease Of Liver 5
Congenital Disorder of Deglycosylation 2
Congenital Disorder Of Glycosylation Type 1A 3
Congenital Disorder Of Glycosylation Type 1B 3
Congenital Disorder Of Glycosylation Type 1C 3
Congenital Disorder Of Glycosylation Type 1D 3
Congenital Disorder Of Glycosylation Type 1E 7
Congenital Disorder Of Glycosylation Type 1F 3
Congenital Disorder Of Glycosylation Type 1G 3
Congenital Disorder Of Glycosylation Type 1H 4
Congenital Disorder Of Glycosylation Type 1I 5
Congenital Disorder Of Glycosylation Type 1J 2
Congenital Disorder Of Glycosylation Type 1K 1
Congenital Disorder Of Glycosylation Type 1L 1
Congenital Disorder Of Glycosylation Type 1M 3
Congenital Disorder Of Glycosylation Type 1O 6
Congenital Disorder Of Glycosylation Type 1P 1
Congenital Disorder Of Glycosylation Type 1Q 1
Congenital Disorder Of Glycosylation Type 2C 4
Congenital Disorder Of Glycosylation Type 2D 1
Congenital Disorder Of Glycosylation Type 2E 1
Congenital Disorder Of Glycosylation Type 2F 1
Congenital Disorder Of Glycosylation Type 2G 2
Congenital Disorder Of Glycosylation Type 2I 1
Congenital Disorder Of Glycosylation Type IIb 3
Congenital Disorder Of Glycosylation Type IIh 1
Congenital Disorder Of Glycosylation Type IIj 3
Congenital Disorder of Glycosylation Type IIk 1
Congenital Disorder of Glycosylation Type IIl 1
Congenital Disorder of Glycosylation Type IIm 6
Congenital Disorder of Glycosylation Type IIn 1
Congenital Disorder of Glycosylation Type IIo 1
Congenital Disorder of Glycosylation Type IIp 1
Congenital Disorder of Glycosylation Type IIq 1
Congenital Disorder Of Glycosylation Type In 1
Congenital Disorder of Glycosylation Type Ir 1
Congenital Disorder of Glycosylation Type It 4
Congenital Disorder of Glycosylation Type Iu 6
Congenital Disorder of Glycosylation Type Iw 1
Congenital Disorder of Glycosylation Type Ix 1
Congenital Disorder of Glycosylation Type Iy 2
Congenital Fiber Type Disproportion 9
Congenital Generalized Lipodystrophy Type 1 2
Congenital Generalized Lipodystrophy Type 2 3
Congenital heart defects and skeletal malformations syndrome 1
Congenital Hyperammonemia, Type I 5
Congenital Ichthyosis Of Skin 2
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 6
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B 4
Congenital Myasthenic Syndrome - RAPSN 3
Congenital Myasthenic Syndrome, Acetazolamide-Responsive 4
Congenital Myotonia, Autosomal Dominant Form 1
Congenital Stromal Corneal Dystrophy 1
Conotruncal Heart Malformations 5
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 4
Cornea Plana 2 1
Corneal Dystrophy And Perceptive Deafness 1
Corneal Dystrophy Fuchs Endothelial 1 2
Corneal dystrophy, Fuchs endothelial, 3 1
Corneal Dystrophy, Fuchs Endothelial, 4 1
Corneal Dystrophy, Fuchs Endothelial, 6 2
Corneal Dystrophy, Fuchs Endothelial, 8 1
Corneal Dystrophy, Posterior Polymorphous, 2 2
Corneal Dystrophy, Posterior Polymorphous, 3 1
Corneal dystrophy, posterior polymorphous, 4 1
Corneal Endothelial Dystrophy Type 2 2
Corneal Epithelial Dystrophy 2
Corneal Opacification and Other Ocular Anomalies 1
Cornelia de Lange syndrome 1 8
Cornelia de Lange syndrome 2 9
Cornelia de Lange syndrome 3 6
Cornelia de Lange syndrome 4 6
Cornelia de Lange syndrome 5 6
Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia 1
Corpus Callosum, Partial Agenesis Of, X-Linked 2
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Cortical Dysplasia, Complex, with other Brain Malformations 4 2
Cortical Dysplasia, Complex, with other Brain Malformations 5 1
Cortical Dysplasia-Focal Epilepsy Syndrome 7
Cortical Malformations, Occipital 1
Costello Syndrome 8
Cousin Syndrome 5
Cowchock Syndrome 5
Cowden Disease 15
Cowden syndrome 3 3
Cowden syndrome 5 3
Cowden syndrome 6 1
Cowden syndrome 7 1
Cowden-Like Syndrome 2
Craniodiaphyseal Dysplasia, Autosomal Dominant 1
Cranioectodermal Dysplasia 4
Cranioectodermal Dysplasia 2 4
Cranioectodermal Dysplasia 3 1
Cranioectodermal Dysplasia 4 2
Craniofacial Deafness Hand Syndrome 1
Craniofrontonasal Dysplasia 6
Craniometaphyseal Dysplasia, Autosomal Dominant 1
Craniometaphyseal dysplasia, autosomal recessive 2
Craniosynostosis 3 4
Craniosynostosis 4 1
Craniosynostosis 6 1
Craniosynostosis And Dental Anomalies 2
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 1
Craniosynostosis, Type 1 4
Craniosynostosis, Type 2 3
Creatine Phosphokinase, Elevated Serum 1
Crigler-Najjar Syndrome, Type I 1
Crigler-Najjar Syndrome, Type II 1
Crouzon Syndrome 7
Crouzon Syndrome With Acanthosis Nigricans 6
Cryohydrocytosis 1
Cryptorchidism, Unilateral Or Bilateral 3
Culler-Jones Syndrome 1
Currarino Syndrome 2
Cushing's Symphalangism 3
Cutaneous Malignant Melanoma 1 2
Cutaneous Telangiectasia and Cancer Syndrome, Familial 2
Cutis Gyrata Syndrome Of Beare And Stevenson 3
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 2
Cutis Laxa, Autosomal Dominant 4
Cutis Laxa, Autosomal Dominant 2 4
Cutis Laxa, Autosomal Dominant 3 2
Cutis Laxa, Autosomal Recessive, Type IA 5
Cutis Laxa, Autosomal Recessive, Type IB 5
Cutis Laxa, Autosomal Recessive, Type IIA 5
Cutis Laxa, Autosomal Recessive, Type IIB 3
Cutis Laxa, Autosomal Recessive, Type IIC 2
Cutis Laxa, Autosomal Recessive, Type IID 2
Cutis Laxa, Autosomal Recessive, Type IIIB 2
Cyclical Neutropenia 4
Cystathioninuria 1
Cystic Fibrosis 7
Cystinosis 2
Cystinosis, Ocular Nonnephropathic 2
Cystinuria 4
Czech Dysplasia Metatarsal Type 5
D-2-Alpha Hydroxyglutaric Aciduria 4
D-2-Hydroxyglutaric Aciduria 2 5
D-Bifunctional Protein Deficiency 2
Danon Disease 9
De Sanctis-Cacchione Syndrome 2
Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) 3
Deafness, Autosomal Dominant 1 2
Deafness, Autosomal Dominant 10 4
Deafness, Autosomal Dominant 12 3
Deafness, Autosomal Dominant 13 4
Deafness, Autosomal Dominant 15 2
Deafness, Autosomal Dominant 17 3
Deafness, Autosomal Dominant 20 1
Deafness, Autosomal Dominant 22 6
Deafness, Autosomal Dominant 23 1
Deafness, Autosomal Dominant 25 2
Deafness, Autosomal Dominant 28 3
Deafness, Autosomal Dominant 2A 3
Deafness, Autosomal Dominant 2B 3
Deafness, autosomal dominant 34, with or without inflammation 1
Deafness, Autosomal Dominant 36 3
Deafness, Autosomal Dominant 3A 2
Deafness, Autosomal Dominant 3B 2
Deafness, Autosomal Dominant 4 3
Deafness, Autosomal Dominant 40 2
Deafness, Autosomal Dominant 44 3
Deafness, Autosomal Dominant 48 1
Deafness, Autosomal Dominant 4B 2
Deafness, Autosomal Dominant 51 1
Deafness, Autosomal Dominant 6 3
Deafness, Autosomal Dominant 64 2
Deafness, Autosomal Dominant 69 1
Deafness, Autosomal Dominant 9 3
Deafness, Autosomal Recessive 10 1
Deafness, Autosomal Recessive 15 2
Deafness, Autosomal Recessive 18 1
Deafness, Autosomal Recessive 1A 5
Deafness, Autosomal Recessive 1B 2
Deafness, Autosomal Recessive 21 3
Deafness, Autosomal Recessive 22 3
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 2
Deafness, Autosomal Recessive 35 3
Deafness, Autosomal Recessive 37 3
Deafness, Autosomal Recessive 39 3
Deafness, Autosomal Recessive 42 3
Deafness, Autosomal Recessive 48 2
Deafness, Autosomal Recessive 49 2
Deafness, Autosomal Recessive 53 3
Deafness, autosomal recessive 57 1
Deafness, Autosomal Recessive 59 3
Deafness, Autosomal Recessive 6 2
Deafness, Autosomal Recessive 61 3
Deafness, Autosomal Recessive 63 2
Deafness, Autosomal Recessive 67 3
Deafness, Autosomal Recessive 7 3
Deafness, Autosomal Recessive 74 2
Deafness, Autosomal Recessive 77 3
Deafness, Autosomal Recessive 79 1
Deafness, Autosomal Recessive 8/10 2
Deafness, autosomal recessive 89 1
Deafness, Autosomal Recessive 9 3
Deafness, Autosomal Recessive 91 2
Deafness, Dystonia, and Cerebral Hypomyelination 2
Deafness, X-Linked 1 2
Deafness, X-Linked 2 1
Deafness, X-Linked 4 3
Deafness, X-Linked 5 2
Deafness, X-linked 6 4
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase 4
Deficiency Of Alpha-Mannosidase 2
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase 1
Deficiency Of Butyryl-CoA Dehydrogenase 5
Deficiency Of Galactokinase 2
Deficiency Of Guanidinoacetate Methyltransferase 4
Deficiency Of Steroid 17-Alpha-Monooxygenase 6
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency 2
Dent Disease 1 4
Dent Disease 2 4
Dental Anomalies and Short Stature 3
Denticles 1
Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth 1
Dentinogenesis Imperfecta - Shield's Type II 1
Dentinogenesis Imperfecta Shields Type 3 1
Dermatofibrosis Lenticularis Disseminata 1
Dermatopathia Pigmentosa Reticularis 2
Desanto-Shinawi syndrome 1
Desbuquois Dysplasia 2 1
Desbuquois Syndrome 1
Desmoid Disease, Hereditary 1
Desmosterolosis 4
Developmental Delay and Seizures with or without Movement Abnormalities 2
Diabetes Insipidus, Nephrogenic, Autosomal 3
Diabetes Insipidus, Nephrogenic, X-Linked 3
Diabetes Insipidus, Neurohypophyseal 3
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness 4
Diabetes Mellitus Type 1 2
Diabetes Mellitus, Insulin-Dependent, 2 1
Diabetes Mellitus, Insulin-Dependent, 20 1
Diabetes Mellitus, Ketosis-Prone 1
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism 3
Diabetes Mellitus, Noninsulin-Dependent 11
Diamond-Blackfan Anemia 1 2
Diamond-Blackfan Anemia 10 2
Diamond-Blackfan Anemia 11 2
Diamond-Blackfan Anemia 12 2
Diamond-Blackfan Anemia 3 2
Diamond-Blackfan Anemia 4 2
Diamond-Blackfan Anemia 5 2
Diamond-Blackfan Anemia 6 2
Diamond-Blackfan Anemia 7 2
Diamond-Blackfan Anemia 8 2
Diamond-Blackfan Anemia 9 2
Diaphanospondylodysostosis 2
Diaphragmatic Hernia 3 2
Diarrhea 5, With Tufting Enteropathy, Congenital 2
Dias-Logan Syndrome 3
Diastrophic Dysplasia 5
Digeorge Sequence 1
Digital Clubbing, Isolated Congenital 1
Dihydrolipoamide dehydrogenase deficiency 5
Dihydropteridine Reductase Deficiency 2
Dihydropyrimidinase Deficiency 1
Dihydropyrimidine Dehydrogenase Deficiency 1
Dilated Cardiomyopathy 1A 9
Dilated Cardiomyopathy 1Aa 6
Dilated Cardiomyopathy 1BB 2
Dilated Cardiomyopathy 1C 7
Dilated Cardiomyopathy 1CC 6
Dilated Cardiomyopathy 1D 4
Dilated Cardiomyopathy 1DD 4
Dilated Cardiomyopathy 1E 2
Dilated Cardiomyopathy 1Ee 5
Dilated Cardiomyopathy 1FF 3
Dilated Cardiomyopathy 1G 1
Dilated Cardiomyopathy 1I 5
Dilated Cardiomyopathy 1J 4
Dilated Cardiomyopathy 1L 5
Dilated Cardiomyopathy 1M 1
Dilated Cardiomyopathy 1N 6
Dilated Cardiomyopathy 1O 2
Dilated Cardiomyopathy 1P 6
Dilated Cardiomyopathy 1R 5
Dilated Cardiomyopathy 1S 8
Dilated Cardiomyopathy 1W 4
Dilated Cardiomyopathy 1X 5
Dilated Cardiomyopathy 1Y 6
Dilated Cardiomyopathy 1Z 1
Dilated Cardiomyopathy 2A 7
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 1
Dimethylglycine Dehydrogenase Deficiency 1
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency 3
Distal Hereditary Motor Neuronopathy Type 2A 4
Distal Hereditary Motor Neuronopathy Type 2B 4
Distal Hereditary Motor Neuronopathy Type 5 7
Distal Myopathy Markesbery-Griggs Type 3
Distichiasis-Lymphedema Syndrome 2
Dizygotic Twins 2
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin 1
Dominant Hereditary Optic Atrophy 6
Donnai Barrow Syndrome 1
DOOR syndrome 2
Doyne Honeycomb Retinal Dystrophy 4
Drash Syndrome 5
Duane retraction syndrome 3 1
Duane Syndrome Type 2 2
Duane-Radial Ray Syndrome 5
Dubin-Johnson Syndrome 2
Duchenne Muscular Dystrophy 4
Dyggve-Melchior-Clausen Syndrome 1
Dyserythropoietic Anemia, Congenital, Type Ia 3
Dyserythropoietic Anemia, Congenital, Type Ib 3
Dyserythropoietic Anemia, Congenital, Type II 3
Dyserythropoietic Anemia, Congenital, Type IV 3
Dysfibrinogenemia, congenital 2
Dyskeratosis Congenita Autosomal Dominant 6
Dyskeratosis Congenita Autosomal Recessive 3
Dyskeratosis Congenita X-Linked 5
Dyskeratosis Congenita, Autosomal Dominant 4 4
Dyskeratosis Congenita, Autosomal Dominant, 2 6
Dyskeratosis Congenita, Autosomal Dominant, 3 4
Dyskeratosis Congenita, Autosomal Recessive 6 4
Dyskeratosis Congenita, Autosomal Recessive, 2 3
Dyskeratosis Congenita, Autosomal Recessive, 3 3
Dyskinesia, Seizures, and Intellectual Developmental Disorder 3
Dyssegmental Dysplasia Silverman-Handmaker Type 1
Dystonia 1 2
Dystonia 12 2
Dystonia 16 2
Dystonia 24 2
Dystonia 25 2
Dystonia 27 1
Dystonia 3, Torsion, X-Linked 3
Dystonia 4, Torsion 3
Dystonia 5, Dopa-Responsive Type 4
Dystonia 6, Torsion 2
Dystonia 9 2
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type 3
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 3
Ectodermal Dysplasia 3, Witkop Type 2
Ectodermal Dysplasia Skin Fragility Syndrome 2
Ectodermal Dysplasia, 'Pure' Hair-Nail Type 2
Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant 3
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 2
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 3
Ectodermal Dysplasia/Short Stature Syndrome 2
Ectopia lentis et pupillae 1
Ectopia Lentis, Isolated Autosomal Recessive 1
Ectopia Lentis, Isolated, Autosomal Dominant 1
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 6
EDICT Syndrome 1
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 3
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 2
Ehlers-Danlos syndrome, arthrochalasia type, 2 1
Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 5
Ehlers-Danlos Syndrome, Classic Like, 2 2
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 4
Ehlers-Danlos Syndrome, Musculocontractural Type 3
Ehlers-Danlos Syndrome, Musculocontractural Type 2 2
Ehlers-Danlos Syndrome, Periodontal Type, 2 2
Ehlers-Danlos Syndrome, Progeroid Type, 2 2
Ehlers-Danlos Syndrome, Type 1 9
Ehlers-Danlos Syndrome, Type 2 4
Ehlers-Danlos Syndrome, Type 3 1
Ehlers-Danlos Syndrome, Type 4 6
Ehlers-Danlos Syndrome, Type VIIA and VIIB 6
Ehlers-Danlos Syndrome, Type VIIC 2
Ehlers-Danlos Syndrome, Type VIII 3
Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency 3
Eiken Skeletal Dysplasia 1
Elliptocytosis 1 1
Elliptocytosis 2 3
Elliptocytosis 3 2
Ellis-van Creveld Syndrome 10
Emery-Dreifuss Muscular Dystrophy 1, X-Linked 7
Emery-Dreifuss muscular dystrophy 3, AR 3
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 3
Emery-Dreifuss Muscular Dystrophy 7, AD 2
Emery-Dreifuss muscular dystrophy-6 4
Encephalocraniocutaneous lipomatosis 2
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 1
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 1
Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To 2
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To 2
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission 3
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1
Encephalopathy, progressive, with amyotrophy and optic atrophy 1
Encephalopathy, progressive, with or without lipodystrophy 1
Endocrine-Cerebroosteodysplasia 5
Endometrial Cancer 5
Endplate Acetylcholinesterase Deficiency 4
Enhanced S-Cone Syndrome 1
Enlarged Vestibular Aqueduct Syndrome 4
Epidermal Nevus 3
Epidermodysplasia Verruciformis 1
Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy 3
Epidermolysis Bullosa Herpetiformis, Dowling-Meara 3
Epidermolysis Bullosa Pruriginosa 1
Epidermolysis Bullosa Simplex 1
Epidermolysis Bullosa Simplex With Mottled Pigmentation 1
Epidermolysis Bullosa Simplex With Pyloric Atresia 2
Epidermolysis Bullosa Simplex, Autosomal Recessive 2
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 1
Epidermolysis Bullosa Simplex, Cockayne-Touraine Type 5
Epidermolysis Bullosa Simplex, Koebner Type 3
Epidermolysis Bullosa Simplex, Ogna Type 3
Epidermolysis Bullosa With Pyloric Atresia 5
Epidermolysis Bullosa, Lethal Acantholytic 3
Epidermolysis Bullosa, Pretibial 1
Epidermolytic Hyperkeratosis 3
Epilepsy Juvenile Absence 2
Epilepsy, Childhood Absence 2 1
Epilepsy, Childhood Absence 5 2
Epilepsy, Childhood Absence 6 2
Epilepsy, Early-Onset, Vitamin B6-Dependent 2
Epilepsy, familial focal, with variable foci 4
Epilepsy, Familial Focal, with Variable Foci 2 4
Epilepsy, Familial Focal, with Variable Foci 3 2
Epilepsy, familial focal, with variable foci 4 1
Epilepsy, Familial Temporal Lobe, 5 2
Epilepsy, Familial Temporal Lobe, 7 5
Epilepsy, Familial Temporal Lobe, 8 1
Epilepsy, focal, with speech disorder and with or without mental retardation 4
Epilepsy, Hearing Loss, and Mental Retardation Syndrome 2
Epilepsy, Idiopathic Generalized 10 1
Epilepsy, Idiopathic Generalized 8 1
Epilepsy, Idiopathic Generalized 9 2
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 1
Epilepsy, idiopathic generalized, susceptibility to, 14 1
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 1
Epilepsy, Juvenile Myoclonic 5 2
Epilepsy, juvenile myoclonic, susceptibility to, 10 2
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 4
Epilepsy, Myoclonic, Familial Adult, 5 2
Epilepsy, nocturnal frontal lobe, 5 3
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 4
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure 5
Epilepsy, Progressive Myoclonic 6 5
Epilepsy, Progressive Myoclonic 7 2
Epilepsy, Progressive Myoclonic, 10 1
Epilepsy, Progressive Myoclonic, 8 2
Epilepsy, Progressive Myoclonic, 9 2
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders 4
Epileptic encephalopathy, childhood-onset 6
Epileptic encephalopathy, early infantile, 1 6
Epileptic Encephalopathy, Early Infantile, 10 5
Epileptic Encephalopathy, Early Infantile, 11 6
Epileptic Encephalopathy, Early Infantile, 12 4
Epileptic Encephalopathy, Early Infantile, 13 5
Epileptic encephalopathy, early infantile, 14 3
Epileptic Encephalopathy, Early Infantile, 15 4
Epileptic Encephalopathy, Early Infantile, 16 5
Epileptic Encephalopathy, Early Infantile, 17 4
Epileptic encephalopathy, early infantile, 18 4
Epileptic Encephalopathy, Early Infantile, 19 2
Epileptic Encephalopathy, Early Infantile, 2 7
Epileptic Encephalopathy, Early Infantile, 21 2
Epileptic Encephalopathy, Early Infantile, 23 2
Epileptic Encephalopathy, Early Infantile, 24 5
Epileptic Encephalopathy, Early Infantile, 25 4
Epileptic Encephalopathy, Early Infantile, 26 3
Epileptic Encephalopathy, Early Infantile, 27 4
Epileptic Encephalopathy, Early Infantile, 28 3
Epileptic Encephalopathy, Early Infantile, 29 1
Epileptic Encephalopathy, Early Infantile, 3 4
Epileptic Encephalopathy, Early Infantile, 31 2
Epileptic Encephalopathy, Early Infantile, 32 4
Epileptic Encephalopathy, Early Infantile, 33 2
Epileptic Encephalopathy, Early Infantile, 34 2
Epileptic Encephalopathy, Early Infantile, 35 2
Epileptic Encephalopathy, Early Infantile, 36 5
Epileptic Encephalopathy, Early Infantile, 37 2
Epileptic Encephalopathy, Early Infantile, 38 2
Epileptic Encephalopathy, Early Infantile, 39 3
Epileptic Encephalopathy, Early Infantile, 4 6
Epileptic Encephalopathy, Early Infantile, 40 2
Epileptic Encephalopathy, Early Infantile, 41 1
Epileptic Encephalopathy, Early Infantile, 42 2
Epileptic Encephalopathy, Early Infantile, 43 3
Epileptic Encephalopathy, Early Infantile, 44 2
Epileptic Encephalopathy, Early Infantile, 45 2
Epileptic Encephalopathy, Early Infantile, 46 2
Epileptic Encephalopathy, Early Infantile, 47 2
Epileptic Encephalopathy, Early Infantile, 48 2
Epileptic Encephalopathy, Early Infantile, 49 2
Epileptic Encephalopathy, Early Infantile, 5 4
Epileptic Encephalopathy, Early Infantile, 50 2
Epileptic Encephalopathy, Early Infantile, 51 2
Epileptic encephalopathy, early infantile, 52 2
Epileptic Encephalopathy, Early Infantile, 53 3
Epileptic Encephalopathy, Early Infantile, 54 2
Epileptic Encephalopathy, Early Infantile, 55 2
Epileptic Encephalopathy, Early Infantile, 56 2
Epileptic Encephalopathy, Early Infantile, 58 2
Epileptic Encephalopathy, Early Infantile, 59 2
Epileptic encephalopathy, early infantile, 60 1
Epileptic Encephalopathy, Early Infantile, 62 3
Epileptic encephalopathy, early infantile, 63 1
Epileptic encephalopathy, early infantile, 64 1
Epileptic encephalopathy, early infantile, 65 1
Epileptic Encephalopathy, Early Infantile, 7 4
Epileptic Encephalopathy, Early Infantile, 8 6
Epileptic Encephalopathy, Early Infantile, 9 6
Epileptic Encephalopathy, Infantile or Early Childhood, 1 2
Epileptic Encephalopathy, Infantile or Early Childhood, 2 2
Epileptic Encephalopathy, Infantile or Early Childhood, 3 2
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness 4
Episodic Ataxia Type 1 3
Episodic Kinesigenic Dyskinesia 1 1
Episodic Pain Syndrome, Familial, 2 3
Episodic Pain Syndrome, Familial, 3 3
Epstein Syndrome 3
Erythrocytosis, Familial, 2 1
Erythroderma, Ichthyosiform, Congenital Reticular 2
Erythrokeratodermia Variabilis Et Progressiva 2
Erythrokeratodermia variabilis et progressiva 3 1
Erythropoietic Protoporphyria 3
Escobar Syndrome 4
Esophageal Cancer 1
Essential Hypertension 2
Essential Thrombocythemia 2
Essential tremor, hereditary, 5 1
Ethylmalonic Encephalopathy 3
eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 1
Exostoses, Multiple, Type I 5
Exostoses, Multiple, Type II 5
Exudative Vitreoretinopathy 2, X-Linked 4
Exudative Vitreoretinopathy 4 2
Exudative Vitreoretinopathy 5 3
Exudative Vitreoretinopathy 6 3
Exudative Vitreoretinopathy 7 2
Fabry's Disease 5
Facial Paresis, Hereditary Congenital, 3 1
Facioscapulohumeral Muscular Dystrophy 2 4
Factor H Deficiency 1
Factor V And Factor VIII, Combined Deficiency Of, 1 4
Factor V And Factor VIII, Combined Deficiency Of, 2 3
Factor V Deficiency 3
Factor VII Deficiency 3
Factor X Deficiency 4
Factor XII Deficiency Disease 2
Factor XIII, A Subunit, Deficiency Of 4
Factor XIII, B Subunit, Deficiency Of 3
Fallot Tetralogy 12
Familial Adenomatous Polyposis 3 3
Familial Adenomatous Polyposis 4 2
Familial Amyloid Nephropathy With Urticaria And Deafness 4
Familial Benign Hypercalcemia 3
Familial Cancer Of Breast 17
Familial Cold Autoinflammatory Syndrome 2 4
Familial cold autoinflammatory syndrome 3 1
Familial Cold Urticaria 4
Familial Colorectal Cancer 8
Familial digital arthropathy with brachydactyly 3
Familial Dysautonomia 4
Familial Encephalopathy With Neuroserpin Inclusion Bodies 1
Familial Erythrocytosis, 1 1
Familial Exudative Vitreoretinopathy 3
Familial Gynecomastia, Due To Increased Aromatase Activity 5
Familial Hemiplegic Migraine Type 1 2
Familial Hemiplegic Migraine Type 2 4
Familial Hemiplegic Migraine Type 3 1
Familial Hypercholesterolemia 4
Familial Hypertrophic Cardiomyopathy 1 10
Familial Hypertrophic Cardiomyopathy 10 5
Familial Hypertrophic Cardiomyopathy 11 2
Familial Hypertrophic Cardiomyopathy 12 6
Familial Hypertrophic Cardiomyopathy 13 6
Familial Hypertrophic Cardiomyopathy 14 8
Familial Hypertrophic Cardiomyopathy 15 5
Familial Hypertrophic Cardiomyopathy 16 3
Familial Hypertrophic Cardiomyopathy 18 6
Familial Hypertrophic Cardiomyopathy 2 4
Familial Hypertrophic Cardiomyopathy 20 3
Familial Hypertrophic Cardiomyopathy 3 3
Familial Hypertrophic Cardiomyopathy 4 5
Familial Hypertrophic Cardiomyopathy 6 6
Familial Hypertrophic Cardiomyopathy 7 6
Familial Hypertrophic Cardiomyopathy 8 5
Familial Hypertrophic Cardiomyopathy 9 5
Familial Hypoalphalipoproteinemia 1
Familial Hypobetalipoproteinemia 1
Familial Hypokalemia-Hypomagnesemia 3
Familial Infantile Myasthenia 4
Familial Juvenile Hyperuricemic Nephropathy 2
Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates 4
Familial Mediterranean Fever 4
Familial Mediterranean Fever, Autosomal Dominant 4
Familial Medullary Thyroid Carcinoma 3
Familial Porphyria Cutanea Tarda 3
Familial Renal Hypouricemia 1
Familial Type 5 Hyperlipoproteinemia 1
Familial Visceral Amyloidosis, Ostertag Type 1
Fanconi Anemia, Complementation Group A 5
Fanconi Anemia, Complementation Group B 3
Fanconi Anemia, Complementation Group C 5
Fanconi Anemia, Complementation Group D1 4
Fanconi Anemia, Complementation Group D2 5
Fanconi Anemia, Complementation Group E 4
Fanconi Anemia, Complementation Group F 5
Fanconi Anemia, Complementation Group G 5
Fanconi Anemia, Complementation Group I 4
Fanconi Anemia, Complementation Group J 7
Fanconi Anemia, Complementation Group L 5
Fanconi Anemia, Complementation Group M 2
Fanconi Anemia, Complementation Group N 6
Fanconi Anemia, Complementation Group O 5
Fanconi Anemia, Complementation Group P 5
Fanconi anemia, Complementation Group Q 4
Fanconi Anemia, Complementation Group R 3
Fanconi Anemia, Complementation Group S 1
Fanconi Anemia, Complementation Group T 2
Fanconi Anemia, Complementation Group U 3
Fanconi Anemia, Complementation Group V 2
Fanconi Renotubular Syndrome 2 1
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 2
Fanconi-Bickel Syndrome 7
Farber's Lipogranulomatosis 2
Fasting Plasma Glucose Level Quantitative Trait Locus 5 1
Fazio-Londe Disease 1
Febrile seizures, familial, 11 1
Febrile Seizures, Familial, 4 2
Fechtner Syndrome 3
Feingold Syndrome 1 2
Fetal Akinesia Deformation Sequence 8
Fetal Hemoglobin Quantitative Trait Locus 6 2
Fg Syndrome 7
FG Syndrome 2 5
Fibrochondrogenesis 4
Fibrochondrogenesis 2 3
Fibrodysplasia Ossificans Progressiva 2
Fibrosis Of Extraocular Muscles, Congenital, 1 1
Fibrosis Of Extraocular Muscles, Congenital, 2 2
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement 2
Fibular Hypoplasia And Complex Brachydactyly 2
Filippi syndrome 1
FILS syndrome 1
Finnish Congenital Nephrotic Syndrome 2
Fish-Eye Disease 1
Fleck Corneal Dystrophy 1
Fleck Retina, Familial Benign 5
Floating-Harbor Syndrome 6
Focal Cortical Dysplasia Of Taylor 1
Focal Dermal Hypoplasia 1
Focal facial dermal dysplasia 3, Setleis type 1
Focal Segmental Glomerulosclerosis 1 3
Focal Segmental Glomerulosclerosis 2 3
Focal Segmental Glomerulosclerosis 3, Susceptibility To 3
Focal Segmental Glomerulosclerosis 4, Susceptibility To 1
Focal Segmental Glomerulosclerosis 5 1
Focal Segmental Glomerulosclerosis 6 1
Focal Segmental Glomerulosclerosis 8 3
Focal Segmental Glomerulosclerosis 9 1
Folate Malabsorption, Hereditary 4
Follicle-Stimulating Hormone Deficiency, Isolated 7
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 2
Foveal Hypoplasia And Presenile Cataract Syndrome 3
Fragile X Syndrome 3
Fragile X Tremor/Ataxia Syndrome 1
Frank Ter Haar Syndrome 3
Fraser Syndrome 6
Fraser Syndrome 2 4
Fraser Syndrome 3 5
Frasier Syndrome 5
Freeman-Sheldon Syndrome 4
Frontometaphyseal Dysplasia 5
Frontometaphyseal Dysplasia 2 2
Frontonasal Dysplasia 2
Frontonasal Dysplasia 2 1
Frontonasal Dysplasia 3 1
Frontotemporal Dementia 6
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 1
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 5
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 2
Frontotemporal Dementia, Ubiquitin-Positive 4
Fructose-Biphosphatase Deficiency 2
Fucosidosis 2
Fuhrmann Syndrome 3
Fukuyama Congenital Muscular Dystrophy 8
Fumarase Deficiency 3
Galactosemia 7
Galactosialidosis 4
Galactosylceramide Beta-Galactosidase Deficiency 3
Galloway-Mowat Syndrome 2
Galloway-Mowat Syndrome 2, X-linked 1
Galloway-Mowat Syndrome 3 2
Galloway-Mowat Syndrome 4 1
Galloway-Mowat Syndrome 5 1
Gamma Aminobutyric Acid Transaminase Deficiency 1
Ganglioside Sialidase Deficiency 2
Gangliosidosis GM1 Type 3 2
GAPO Syndrome 1
Gastrointestinal defects and immunodeficiency syndrome 1
Gastrointestinal Stromal Tumors 3
GATA-1-Related Thrombocytopenia With Dyserythropoiesis 5
Gaucher Disease, Atypical, Due To Saposin C Deficiency 1
Gaucher Disease, Perinatal Lethal 3
Gaucher Disease, Type 1 2
Gaucher Disease, Type II 2
Gaucher Disease, Type III 1
Gaucher Disease, Type IIIc 2
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Geleophysic Dysplasia 2
Geleophysic Dysplasia 2 2
Generalized Dominant Dystrophic Epidermolysis Bullosa 1
Generalized Epilepsy And Paroxysmal Dyskinesia 2
Generalized Epilepsy With Febrile Seizures Plus, Type 1 5
Generalized Epilepsy With Febrile Seizures Plus, Type 2 4
Generalized Epilepsy With Febrile Seizures Plus, Type 3 4
Generalized Epilepsy With Febrile Seizures Plus, Type 7 4
Generalized Epilepsy with Febrile Seizures Plus, Type 9 4
Genitopatellar Syndrome 4
Geroderma Osteodysplasticum 3
Ghosal Syndrome 1
Giant Axonal Neuropathy 5
Gilbert Syndrome 1
Glanzmann's Thrombasthenia 8
Glass Syndrome 1
Glaucoma 1, Open Angle, G 1
Glaucoma 3, Primary Congenital, D 3
Glaucoma, Congenital 3
Glaucoma, Normal Tension, Susceptibility To 3
Glioma Susceptibility 1 1
Glioma Susceptibility 2 1
Glioma Susceptibility 3 1
Glioma Susceptibility 9 2
Glomerulopathy With Fibronectin Deposits 2 1
Glomerulosclerosis, Focal Segmental, 7 3
Glucocorticoid Resistance 3
Glucocorticoid-Remediable Aldosteronism 1
Glut1 Deficiency Syndrome 1 4
Glut1 Deficiency Syndrome 2 3
Glutaric Aciduria, Type 1 3
Glutaric Aciduria, Type 2 14
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To 1
Gluthathione Synthetase Deficiency 1
Glycerol Kinase Deficiency 1
Glycine Encephalopathy 6
Glycine N-Methyltransferase Deficiency 3
Glycogen Storage Disease 0, Liver 4
Glycogen Storage Disease 0, Muscle 2
Glycogen Storage Disease Of Heart, Lethal Congenital 5
Glycogen Storage Disease Type Ia 3
Glycogen Storage Disease Type Ib 5
Glycogen Storage Disease Type Ic 4
Glycogen Storage Disease Type II 10
Glycogen Storage Disease Type III 6
Glycogen Storage Disease Type IV 6
Glycogen Storage Disease Type IXa1 4
Glycogen Storage Disease Type IXc 3
Glycogen Storage Disease Type IXd 4
Glycogen Storage Disease Type V 5
Glycogen Storage Disease Type VI 3
Glycogen Storage Disease Type VII 5
Glycogen Storage Disease Type X 3
Glycogen Storage Disease Type XI 2
Glycogen Storage Disease Type XII 2
Glycogen Storage Disease Type XIII 2
Glycogen Storage Disease Type XV 3
Glycogen Storage DiseaseType IXb 4
Glycosylphosphatidylinositol biosynthesis defect 11 1
Glycosylphosphatidylinositol biosynthesis defect 15 1
Glycosylphosphatidylinositol Deficiency 1
Gnathodiaphyseal Dysplasia 3
GNE Myopathy 5
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors 4
Goldberg-Shprintzen Megacolon Syndrome 1
Gonadotropin-Independent Familial Sexual Precocity 6
Gorlin Syndrome 4
Gout, HPRT-Related 1
Gracile Bone Dysplasia 3
GRACILE Syndrome 3
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative 4
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II 3
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III 3
Granulomatous Disease, Chronic, X-Linked 4
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial 3
Gray Platelet Syndrome 4
Grebe Syndrome 2
Greenberg Dysplasia 2
Greig Cephalopolysyndactyly Syndrome 4
Griscelli Syndrome Type 1 4
Griscelli Syndrome Type 2 6
Griscelli Syndrome Type 3 1
Groenouw Corneal Dystrophy Type I 2
Growth Hormone Deficiency, Isolated Partial 1
Growth Hormone Insensitivity With Immunodeficiency 1
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 1
Gtp Cyclohydrolase I Deficiency 2
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia 4
Hajdu-Cheney Syndrome 4
Hand Foot Uterus Syndrome 4
Harlequin Ichthyosis 3
Hartsfield syndrome 7
Hawkinsinuria 1
Hay-Wells Syndrome 5
Heart-Hand Syndrome, Slovenian Type 3
Heimler syndrome 1 1
Heinz Body Anemias 1
Helsmoortel-van der Aa Syndrome 4
Hemangioma, Capillary Infantile 1
Heme Oxygenase 1 Deficiency 1
Hemochromatosis Type 1 7
Hemochromatosis Type 2 2
Hemochromatosis Type 2B 2
Hemochromatosis Type 3 2
Hemochromatosis Type 4 3
Hemochromatosis Type 5 1
Hemoglobin H Disease 3
Hemolytic anemia due to G6PD deficiency 2
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency 1
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency 1
Hemolytic uremic syndrome, atypical, susceptibility to, 2 1
Hemophagocytic Lymphohistiocytosis, Familial, 2 3
Hemophagocytic Lymphohistiocytosis, Familial, 3 4
Hemophagocytic Lymphohistiocytosis, Familial, 4 4
Hemophagocytic lymphohistiocytosis, Familial, 5 4
Hemophilia A, Congenital 3
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts 1
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 3
Hennekam Syndrome 4
Hepatic Adenomas, Familial 1
Hepatic Venoocclusive Disease With Immunodeficiency 1
Hepatitis C Virus, Susceptibility To 1
Hereditary Angioneurotic Edema 2
Hereditary Coproporphyria 5
Hereditary Diffuse Gastric Cancer 4
Hereditary Factor IX Deficiency Disease 3
Hereditary Factor XI Deficiency Disease 3
Hereditary Fructose Intolerance 3
Hereditary Gingival Fibromatosis 1
Hereditary Hemorrhagic Telangiectasia Type 2 3
Hereditary Insensitivity To Pain With Anhidrosis 3
Hereditary Leiomyomatosis And Renal Cell Cancer 5
Hereditary Liability To Pressure Palsies 1
Hereditary Lymphedema Type 1C 2
Hereditary Lymphedema Type I 3
Hereditary Mixed Polyposis Syndrome 2 3
Hereditary Myopathy With Early Respiratory Failure 1
Hereditary Neutrophilia 2
Hereditary Nonpolyposis Colorectal Cancer Type 4 10
Hereditary Nonpolyposis Colorectal Cancer Type 5 12
Hereditary Nonpolyposis Colorectal Cancer Type 7 3
Hereditary Nonpolyposis Colorectal Cancer Type 8 12
Hereditary Pyropoikilocytosis 2
Hereditary Sideroblastic Anemia 1
Hereditary Spherocytosis 3
Hermansky-Pudlak Syndrome 1 6
Hermansky-Pudlak Syndrome 10 2
Hermansky-Pudlak Syndrome 2 8
Hermansky-Pudlak Syndrome 3 6
Hermansky-Pudlak Syndrome 4 6
Hermansky-Pudlak Syndrome 5 5
Hermansky-Pudlak Syndrome 6 6
Hermansky-Pudlak Syndrome 7 6
Hermansky-Pudlak Syndrome 8 6
Hermansky-Pudlak Syndrome 9 4
Herpes Simplex Encephalitis 1 1
Herpes Simplex Encephalitis 2 1
Heterotaxy, Visceral, 2, Autosomal 1
Heterotaxy, Visceral, 4, Autosomal 4
Heterotaxy, Visceral, 5 4
Heterotaxy, visceral, 6, autosomal recessive 1
Heterotaxy, Visceral, 7, Autosomal 1
Heterotaxy, Visceral, X-Linked 3
Heterotopia, Periventricular, Autosomal Recessive 4
Heterotopia, Periventricular, Ehlers-Danlos Variant 1
Hidradenitis Suppurativa, Familial 1
Hidrotic Ectodermal Dysplasia Syndrome 2
Hirschsprung Disease 1 5
Hirschsprung Disease 2 5
Hirschsprung Disease 3 2
Hirschsprung Disease 4 6
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction 3
Histiocytosis-lymphadenopathy plus syndrome 3
Holoprosencephaly 11 3
Holoprosencephaly 2 2
Holoprosencephaly 3 2
Holoprosencephaly 4 3
Holoprosencephaly 5 3
Holoprosencephaly 7 3
Holoprosencephaly 9 5
Holoprosencephaly Sequence 2
Holt-Oram Syndrome 4
Homocystinuria Due To Cbs Deficiency 5
Homocystinuria due to MTHFR Deficiency 4
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblE Complementation Type 4
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type 4
Huntington Disease 1
Hurler Syndrome 2
Hutchinson-Gilford Syndrome 5
Hyaline Fibromatosis Syndrome 2
Hydrocephalus, Nonsyndromic, 1 2
Hydrocephalus, Nonsyndromic, 3 1
Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 3
Hydrolethalus Syndrome 2 3
Hyperaldosteronism, Familial, Type III 1
Hyperaldosteronism, Familial, Type IV 2
Hyperalphalipoproteinemia 1
Hyperammonemia, Type III 3
Hypercalciuria, Absorptive, 2 2
Hypercholanemia, Familial 2
Hypercholesterolemia, Autosomal Dominant, 3 3
Hypercholesterolemia, Autosomal Dominant, Type B 2
Hypercholesterolemia, Autosomal Recessive 3
Hyperekplexia Hereditary 1
Hyperferritinemia Cataract Syndrome 1
Hyperimmunoglobulin D With Periodic Fever 5
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 4
Hyperimmunoglobulin E Syndrome 5
Hyperinsulinemic Hypoglycemia, Familial 3 2
Hyperinsulinemic Hypoglycemia, Familial 6 4
Hyperinsulinemic Hypoglycemia, Familial, 1 3
Hyperinsulinemic Hypoglycemia, Familial, 2 3
Hyperinsulinemic Hypoglycemia, Familial, 4 3
Hyperinsulinemic Hypoglycemia, Familial, 7 1
Hyperkalemic Periodic Paralysis; HYPP 4
Hyperlipidemia, Familial Combined 1
Hyperlipoproteinemia, Type 1D 1
Hyperlipoproteinemia, Type I 2
Hyperlipoproteinemia, Type III 1
Hypermanganesemia with dystonia 1 1
Hypermanganesemia with dystonia 2 1
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency 3
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 2
Hyperparathyroidism 1 2
Hyperparathyroidism 2 2
Hyperparathyroidism 4 1
Hyperparathyroidism, Neonatal Severe Primary 2
Hyperphenylalaninemia, Mild, Non-BH4-Deficient 3
Hyperphosphatasemia Tarda 1
Hyperphosphatasemia With Bone Disease 2
Hyperphosphatasia With Mental Retardation 3
Hyperphosphatasia with mental retardation syndrome 2 4
Hyperphosphatasia with Mental Retardation Syndrome 6 1
Hyperpigmentation with or without Hypopigmentation 2
Hyperproinsulinemia 1
Hyperprolactinemia 2
Hypertension and Brachydactyly Syndrome 2
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 2
Hyperthyroidism, Familial Gestational 3
Hyperthyroidism, Nonautoimmune 3
Hypertrichotic Osteochondrodysplasia 3
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 1
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis 3
Hyperuricemic Nephropathy, Familial Juvenile, 2 1
Hyperuricemic Nephropathy, Familial Juvenile, 4 1
Hypobetalipoproteinemia 1
Hypocalcemia, autosomal dominant 5
Hypocalcemia, autosomal dominant 2 3
Hypocalciuric Hypercalcemia, Familial, Type III 3
Hypocalciuric hypercalcemia, type II 3
Hypochondroplasia 7
Hypogonadotropic Hypogonadism 10 with or without Anosmia 6
Hypogonadotropic Hypogonadism 11 with or without Anosmia 7
Hypogonadotropic Hypogonadism 12 with or without Anosmia 7
Hypogonadotropic Hypogonadism 13 with or without Anosmia 7
Hypogonadotropic Hypogonadism 14 with or without Anosmia 6
Hypogonadotropic Hypogonadism 15 with or without Anosmia 5
Hypogonadotropic Hypogonadism 16 with or without Anosmia 6
Hypogonadotropic Hypogonadism 17 with or without Anosmia 4
Hypogonadotropic Hypogonadism 18 with or without Anosmia 8
Hypogonadotropic Hypogonadism 19 with or without Anosmia 4
Hypogonadotropic Hypogonadism 20 with or without Anosmia 5
Hypogonadotropic Hypogonadism 21 with Anosmia 4
Hypogonadotropic Hypogonadism 22, with or without Anosmia 7
Hypogonadotropic Hypogonadism 7 with or without Anosmia 10
Hypogonadotropic Hypogonadism 8 with or without Anosmia 7
Hypogonadotropic Hypogonadism 9 with or without Anosmia 6
Hypohidrotic X-Linked Ectodermal Dysplasia 3
Hypokalemic Periodic Paralysis 2
Hypokalemic Periodic Paralysis, Type 2 3
Hypomagnesemia 1, Intestinal 1
Hypomagnesemia 2, Renal 3
Hypomagnesemia 4, Renal 1
Hypomagnesemia 5, Renal, With Ocular Involvement 3
Hypomagnesemia 6, Renal 1
Hypomyelination And Congenital Cataract 4
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 3
Hypoparathyroidism Retardation Dysmorphism Syndrome 4
Hypoparathyroidism, Familial Isolated 5
Hypoparathyroidism, X-linked 1
Hypophosphatemic Rickets, Autosomal Dominant 3
Hypophosphatemic Rickets, Autosomal Recessive, 2 2
Hypophosphatemic Rickets, X-Linked Dominant 4
Hypophosphatemic Rickets, X-Linked Recessive 1
Hypophosphatemic Vitamin D Refractory Rickets 3
Hypoplastic Left Heart Syndrome 1
Hypoplastic Left Heart Syndrome 2 4
Hypoplastic or Aplastic Tibia with Polydactyly 1
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 1
Hypoproteinemia, Hypercatabolic 1
Hypospadias 1, X-Linked 2
Hypospadias 2, X-Linked 5
Hypospadias 3, Autosomal 2
Hypothalamic Hamartomas 1
Hypothryoidism, Congenital, Nongoitrous 4 3
Hypothyroidism, Central, and Testicular Enlargement 3
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis 3
Hypothyroidism, congenital, nongoitrous, 1 2
Hypothyroidism, Congenital, Nongoitrous, 5 4
Hypothyroidism, Congenital, Nongoitrous, 6 3
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 2
Hypotonia-Cystinuria Syndrome 1
Hypotrichosis-Lymphedema-Telangiectasia Syndrome 2
I Cell Disease 3
Ichthyosiform Erythroderma, Nonbullous Congenital 2
Ichthyosis Bullosa Of Siemens 2
Ichthyosis Follicularis Atrichia Photophobia Syndrome 6
Ichthyosis Histrix, Curth-Macklin Type 1
Ichthyosis Lamellar 3 2
Ichthyosis Prematurity Syndrome 1
Ichthyosis, congenital, autosomal recessive 10 2
Ichthyosis, Congenital, Autosomal Recessive 11 1
Ichthyosis, congenital, autosomal recessive 3 2
Ichthyosis, congenital, autosomal recessive 4A 3
Ichthyosis, Congenital, Autosomal Recessive 8 1
Ichthyosis, Congenital, Autosomal Recessive 9 1
Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 2
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 3
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis 2
Idiopathic Fibrosing Alveolitis, Chronic Form 3
Idiopathic Hypercalcemia Of Infancy 1
Idiopathic Hypereosinophilic Syndrome 1
IL12RB1 Deficiency 2
IMAGE Syndrome 3
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 1
Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 2
Immunodeficiency 11A 1
Immunodeficiency 11B with atopic dermatitis 1
Immunodeficiency 12 1
Immunodeficiency 13 3
Immunodeficiency 14 5
Immunodeficiency 15 1
Immunodeficiency 17, CD3 gamma deficient 1
Immunodeficiency 18 1
Immunodeficiency 19 1
Immunodeficiency 23 2
Immunodeficiency 24 1
Immunodeficiency 26, with or without neurologic abnormalities 1
Immunodeficiency 27B, mycobacteriosis, AD 1
Immunodeficiency 28, mycobacteriosis 1
Immunodeficiency 29, mycobacteriosis 1
Immunodeficiency 31A, mycobacteriosis, autosomal dominant 1
Immunodeficiency 32A, mycobacteriosis, autosomal dominant 1
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive 1
Immunodeficiency 36 2
Immunodeficiency 38 1
Immunodeficiency 40 1
Immunodeficiency 42 1
Immunodeficiency 44 1
Immunodeficiency 46 1
Immunodeficiency 48 1
Immunodeficiency 50 1
Immunodeficiency 52 1
Immunodeficiency 54 1
Immunodeficiency 55 1
Immunodeficiency 56 1
Immunodeficiency 7, TCR-alpha/beta deficient 1
Immunodeficiency 8 1
Immunodeficiency and Hepatopathy with Cutis Laxa 5
Immunodeficiency Due To Defect In Cd3-Zeta 1
Immunodeficiency Due To Defect In Mapbp-Interacting Protein 2
Immunodeficiency Due To Ficolin 3 Deficiency 1
Immunodeficiency With Hyper Igm Type 1 4
Immunodeficiency With Hyper IgM Type 2 4
Immunodeficiency With Hyper IgM Type 3 2
Immunodeficiency With Hyper IgM Type 5 3
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 1
Immunodeficiency, Common Variable, 1 3
Immunodeficiency, common variable, 10 3
Immunodeficiency, common variable, 12 3
Immunodeficiency, common variable, 13 3
Immunodeficiency, Common Variable, 3 3
Immunodeficiency, Common Variable, 4 3
Immunodeficiency, Common Variable, 5 3
Immunodeficiency, Common Variable, 6 3
Immunodeficiency, common variable, 7 3
Immunodeficiency, Common Variable, 8, with Autoimmunity 4
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia 4
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 1
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked 2
Immunoglobulin A Deficiency 2 3
Immunoglobulin Kappa Light Chain Deficiency 1
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities 4
Inclusion Body Myopathy 3 3
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 5
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 2
Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 1
Incontinentia Pigmenti 1
Indifference To Pain, Congenital, Autosomal Recessive 4
Infantile cerebellar-retinal degeneration 4
Infantile Gm1 Gangliosidosis 4
Infantile Hypophosphatasia 5
Infantile Liver Failure Syndrome 1 2
Infantile Liver Failure Syndrome 2 4
Infantile Nephronophthisis 6
Infantile Neuroaxonal Dystrophy 3
Infantile Parkinsonism-Dystonia 2
Infantile-Onset Ascending Hereditary Spastic Paralysis 1
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations 2
Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA 3
Inflammatory Bowel Disease 1 2
Inflammatory Bowel Disease 25, Autosomal Recessive 1
Inflammatory Bowel Disease 28, Autosomal Recessive 1
Inflammatory Skin And Bowel Disease, Neonatal 1
Insulin-Like Growth Factor 1 Resistance To 1
Insulin-Like Growth Factor I Deficiency 1
Interleukin 2 Receptor, Alpha, Deficiency Of 2
Interleukin 36 Receptor Antagonist Deficiency 4
Interstitial Lung and Liver Disease 2
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 5
Intervertebral Disc Disorder 2
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 2
Intrinsic Factor Deficiency 1
IRAK4 Deficiency 2
Iridogoniodysgenesis Type1 4
Iridogoniodysgenesis, Dominant Type 5
Isolated Lutropin Deficiency 4
Isolated X-Linked Adrenal Hypoplasia Congenita 7
Isovaleryl-CoA Dehydrogenase Deficiency 3
Ivic Syndrome 2
Jackson-Weiss Syndrome 9
Jalili Syndrome 5
Jawad syndrome 2
Jensen Syndrome 2
Jervell And Lange-Nielsen Syndrome 2 3
Jervell And Lange-Nielson Syndrome 3
Johanson-Blizzard Syndrome 6
Joint laxity, short stature, and myopia 1
Joubert Syndrome 5
Joubert Syndrome 1 4
Joubert Syndrome 10 6
Joubert Syndrome 13 2
Joubert syndrome 14 5
Joubert syndrome 15 4
Joubert syndrome 16 4
Joubert syndrome 18 4
Joubert syndrome 19 2
Joubert Syndrome 2 5
Joubert syndrome 20 2
Joubert Syndrome 21 4
Joubert Syndrome 22 3
Joubert Syndrome 23 3
Joubert Syndrome 24 2
Joubert Syndrome 25 1
Joubert Syndrome 26 1
Joubert Syndrome 27 1
Joubert Syndrome 28 3
Joubert Syndrome 3 5
Joubert Syndrome 30 1
Joubert Syndrome 31 2
Joubert Syndrome 32 1
Joubert Syndrome 33 1
Joubert Syndrome 4 5
Joubert Syndrome 5 8
Joubert Syndrome 6 6
Joubert Syndrome 7 8
Joubert Syndrome 8 5
Joubert Syndrome 9 7
Junctional Epidermolysis Bullosa 5
Juvenile Amyotrophic Lateral Sclerosis 1
Juvenile GM1 Gangliosidosis 2
Juvenile Macular Degeneration And Hypotrichosis 2
Juvenile Myelomonocytic Leukemia 2
Juvenile Myoclonic Epilepsy 1
Juvenile Nephropathic Cystinosis 2
Juvenile Polyposis Syndrome 4
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome 6
Juvenile Primary Lateral Sclerosis 1
Kabuki Syndrome 1 5
Kabuki Syndrome 2 6
Kallmann Syndrome 1 9
Kallmann Syndrome 2 11
Kallmann Syndrome 3 9
Kallmann Syndrome 4 7
Kallmann Syndrome 5 10
Kallmann Syndrome 6 8
Karyomegalic Tubulointerstitial Nephritis 1
KBG Syndrome 7
Kenny-Caffey Syndrome Type 1 5
Kenny-Caffey Syndrome Type 2 5
Keppen-Lubinsky syndrome 1
Keratitis, Hereditary 1
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 2
Keratoconus 1 2
Keratoderma Palmoplantar Deafness 1
Keratoendothelitis fugax hereditaria 1
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma 2
Keratosis Palmoplantaris Striata II 2
Keratosis, Seborrheic 1
Keutel Syndrome 2
Kindler's Syndrome 2
Klein-Waardenberg's Syndrome 2
Klippel-Feil Syndrome 1, Autosomal Dominant 3
Klippel-Feil syndrome 2, autosomal recessive 2
Klippel-Feil Syndrome 3, Autosomal Dominant 1
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 3
Kniest Dysplasia 6
Knobloch Syndrome 1 3
Knuckle Pads, Deafness And Leukonychia Syndrome 1
Kohlschutter-Tonz syndrome 5
Koolen-De Vries Syndrome 2
Kosaki overgrowth syndrome 1
Krabbe Disease Atypical Due To Saposin A Deficiency 1
L-2-Hydroxyglutaric Aciduria 4
Lacrimoauriculodentodigital Syndrome 11
Lafora Disease 5
Langer Mesomelic Dysplasia Syndrome 2
Laron-Type Isolated Somatotropin Defect 2
Larsen Syndrome, Dominant Type 3
Laryngoonychocutaneous Syndrome 2
Late-Onset Retinal Degeneration 4
Lattice Corneal Dystrophy Type 3A 2
Lattice Corneal Dystrophy Type I 2
Lattice Corneal Dystrophy Type III 2
Laurin-Sandrow Syndrome 1
Leber Congenital Amaurosis 1 6
Leber Congenital Amaurosis 10 7
Leber Congenital Amaurosis 11 3
Leber Congenital Amaurosis 12 5
Leber Congenital Amaurosis 13 7
Leber Congenital Amaurosis 14 8
Leber Congenital Amaurosis 15 3
Leber Congenital Amaurosis 16 2
Leber Congenital Amaurosis 17 2
Leber Congenital Amaurosis 2 3
Leber Congenital Amaurosis 3 5
Leber Congenital Amaurosis 4 7
Leber Congenital Amaurosis 5 5
Leber Congenital Amaurosis 6 7
Leber Congenital Amaurosis 7 6
Leber Congenital Amaurosis 8 3
Leber Congenital Amaurosis 9 2
Left Ventricular Noncompaction 1 4
Left ventricular noncompaction 10 6
Left Ventricular Noncompaction 7 2
Left Ventricular Noncompaction 8 3
Legg-Calve-Perthes Disease 5
Legius Syndrome 2
Leigh Syndrome 18
Leigh Syndrome, French Canadian Type 4
Leiner Disease 1
Lenz Microphthalmia Syndrome 1
Lenz-Majewski Hyperostotic Dwarfism 4
LEOPARD Syndrome 8
LEOPARD Syndrome 2 3
LEOPARD Syndrome 3 3
Leprosy 2 2
Leri Weill Dyschondrosteosis 3
Lesch-Lyhan Syndrome 3
Lethal Arthrogryposis With Anterior Horn Cell Disease 4
Lethal Congenital Contracture Syndrome 1 5
Lethal congenital contracture syndrome 10 1
Lethal Congenital Contracture Syndrome 5 2
Lethal Multiple Pterygium Syndrome 9
Leukocyte Adhesion Deficiency Type 1 1
Leukocyte Adhesion Deficiency, Type III 1
Leukodystrophy, Hypomyelinating 3 1
Leukodystrophy, Hypomyelinating, 11 1
Leukodystrophy, Hypomyelinating, 2 2
Leukodystrophy, Hypomyelinating, 4 2
Leukodystrophy, Hypomyelinating, 6 1
Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism 1
Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism 1
Leukodystrophy, Hypomyelinating, 9 1
Leukoencephalopathy with Ataxia 1
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation 2
Leukoencephalopathy with Dystonia and Motor Neuropathy 1
Leukoencephalopathy With Vanishing White Matter 12
Leukoencephalopathy, Cystic, Without Megalencephaly 1
Leukoencephalopathy, Diffuse Hereditary, with Spheroids 3
Leukoencephalopathy, Progressive, with Ovarian Failure 3
Lewy Body Dementia 3
Leydig Cell Hypoplasia, Type I 2
Li-Fraumeni Syndrome 16
Li-Fraumeni Syndrome 2 4
Liddle Syndrome 4
Liebenberg Syndrome 2
Lig4 Syndrome 3
Limb-Girdle Muscular Dystrophy, Type 1A 5
Limb-Girdle Muscular Dystrophy, Type 1B 5
Limb-Girdle Muscular Dystrophy, Type 1F 4
Limb-Girdle Muscular Dystrophy, Type 2A 4
Limb-Girdle Muscular Dystrophy, Type 2B 5
Limb-Girdle Muscular Dystrophy, Type 2D 4
Limb-Girdle Muscular Dystrophy, Type 2E 4
Limb-Girdle Muscular Dystrophy, Type 2F 4
Limb-Girdle Muscular Dystrophy, Type 2G 7
Limb-Girdle Muscular Dystrophy, Type 2H 3
Limb-Girdle Muscular Dystrophy, Type 2Y 3
Limb-Mammary Syndrome 3
Linear Skin Defects with Multiple Congenital Anomalies 2 1
Lipase Deficiency Combined 1
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 3
Lipodystrophy, Congenital Generalized, Type 3 2
Lipodystrophy, Congenital Generalized, Type 4 3
Lipodystrophy, Familial Partial, Type 2 4
Lipodystrophy, Familial Partial, Type 3 1
Lipoyltransferase 1 Deficiency 2
Lissencephaly 1 3
Lissencephaly 2 3
Lissencephaly 3 3
Lissencephaly 4 1
Lissencephaly 6, with microcephaly 2
Liver Cancer 1
Liver Failure Acute Infantile 2
Loeys-Dietz Syndrome 1 6
Loeys-Dietz Syndrome 2 9
Loeys-Dietz Syndrome 3 7
Loeys-Dietz Syndrome 4 6
Loeys-Dietz Syndrome 5 5
Long QT Syndrome 1 7
Long QT Syndrome 10 5
Long QT Syndrome 11 6
Long QT Syndrome 12 6
Long QT Syndrome 13 4
Long QT Syndrome 14 5
Long QT Syndrome 15 3
Long QT Syndrome 2 7
Long QT Syndrome 3 6
Long QT Syndrome 4 7
Long QT Syndrome 5 6
Long QT Syndrome 6 6
Long QT Syndrome 9 8
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 8
Lowe Syndrome 5
Lujan-Fryns Syndrome 6
Lung Cancer 7
Lung disease, immunodeficiency, and chromosome breakage syndrome 1
Luscan-Lumish Syndrome 3
Lymphedema, Hereditary, ID 1
Lymphedema, Hereditary, III 2
Lymphedema, Primary, With Myelodysplasia 3
Lymphoproliferative Syndrome 2 2
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 3
Lymphoproliferative Syndrome, X-Linked, 1 7
Lymphoproliferative Syndrome, X-Linked, 2 6
Lynch Syndrome I 13
Lynch Syndrome II 11
Lysinuric Protein Intolerance 3
Lysosomal Acid Lipase Deficiency 2
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis 3
Macrocephaly/Autism Syndrome 3
Macrothrombocytopenia And Progressive Sensorineural Deafness 2
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 2
Macular Corneal Dystrophy Type I 3
Macular Degeneration, Age-Related, 2 2
Macular Degeneration, X-Linked Atrophic 5
Macular Dystrophy with Central Cone Involvement 1
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 1
Macular Dystrophy, Retinal, 2 2
Macular Dystrophy, Vitelliform, 4 2
Macular Dystrophy, Vitelliform, 5 1
Macular Dystrophy, Vitelliform, Adult-Onset 4
Majeed Syndrome 4
Malaria, Susceptibility To Malaria, Resistance To, Included 1
Malignant Hyperthermia 5
Malignant Hyperthermia Susceptibility Type 5 3
Malignant Mesothelioma 4
Malonyl-CoA Decarboxylase Deficiency 6
Malouf Syndrome 7
Mandibuloacral Dysplasia With Type A Lipodystrophy 3
Mandibuloacral Dysplasia With Type B Lipodystrophy 2
Mandibulofacial dysostosis, Guion-Almeida type 4
Manitoba Oculotrichoanal Syndrome 3
Mannose-Binding Protein Deficiency 1
Maple Syrup Urine Disease 5
Marden-Walker Syndrome 2
Marfan Syndrome 6
Marinesco-Sjogren Syndrome 5
Marshall Syndrome 5
Marshall-Smith Syndrome 1
Martsolf Syndrome 1
Masp2 Deficiency 1
Mass Syndrome 1
Mast Syndrome 3
Maturity-Onset Diabetes Of The Young, Type 1 5
Maturity-Onset Diabetes Of The Young, Type 10 3
Maturity-Onset Diabetes Of The Young, Type 11 3
Maturity-Onset Diabetes Of The Young, Type 14 2
Maturity-Onset Diabetes Of The Young, Type 2 2
Maturity-Onset Diabetes Of The Young, Type 3 4
Maturity-Onset Diabetes Of The Young, Type 4 3
Maturity-Onset Diabetes Of The Young, Type 5 10
Maturity-Onset Diabetes Of The Young, Type 6 2
Maturity-Onset Diabetes Of The Young, Type 7 2
Maturity-Onset Diabetes Of The Young, Type 9 3
May-Hegglin Anomaly 5
Mckusick Kaufman Syndrome 4
McLeod Syndrome 1
Meacham Syndrome 3
Meckel Syndrome 1 6
Meckel Syndrome 10 2
Meckel syndrome 11 1
Meckel Syndrome 12 2
Meckel Syndrome 13 2
Meckel Syndrome 2 4
Meckel Syndrome 3 5
Meckel Syndrome 4 6
Meckel Syndrome 5 6
Meckel Syndrome 6 5
Meckel Syndrome 7 3
Meckel Syndrome 8 4
Meckel Syndrome 9 3
MECP2 Duplication Syndrome 1
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 5
MEDNIK Syndrome 1
Medullary Cystic Kidney Disease 1 2
Medullary Cystic Kidney Disease 2 2
Medulloblastoma 3
Meesmann Corneal Dystrophy 2
Meester-Loeys syndrome 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A 3
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation 3
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 3
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 1
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 1
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 1
Megaloblastic Anemia Due To Inborn Errors Of Metabolism 2
Megalocornea 1, X-linked 1
MEHMO Syndrome 1
Meier-Gorlin Syndrome 1 4
Meier-Gorlin Syndrome 2 3
Meier-Gorlin Syndrome 3 3
Meier-Gorlin Syndrome 4 4
Meier-Gorlin Syndrome 5 4
Meier-Gorlin syndrome 6 1
Meier-Gorlin syndrome 7 1
Melanoma Astrocytoma Syndrome 2
Melanoma, Cutaneous Malignant 2 4
Melanoma, Cutaneous Malignant 3 4
Melanoma, Cutaneous Malignant, 9 1
Melanoma, Cutaneous Malignant, Susceptibility to, 10 2
Melanoma, cutaneous malignant, susceptibility to, 8 4
Melanoma-Pancreatic Cancer Syndrome 3
Melnick-Needles Syndrome 3
MEND Syndrome 2
Meningioma, Familial 5
Menkes Kinky-Hair Syndrome 3
Mental Retardation 105 1
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 3
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 3
Mental Retardation With Language Impairment And Autistic Features 3
Mental Retardation, Autosomal Dominant 1 8
Mental Retardation, Autosomal Dominant 13; MRD13 2
Mental Retardation, Autosomal Dominant 18 1
Mental Retardation, Autosomal dominant 19 2
Mental Retardation, Autosomal Dominant 21 2
Mental Retardation, Autosomal Dominant 23 2
Mental Retardation, Autosomal Dominant 24 2
Mental Retardation, Autosomal Dominant 26 1
Mental Retardation, Autosomal Dominant 29 4
Mental Retardation, Autosomal Dominant 3 1
Mental Retardation, Autosomal Dominant 30 1
Mental Retardation, Autosomal Dominant 31 3
Mental Retardation, Autosomal Dominant 36 2
Mental retardation, autosomal dominant 38 1
Mental Retardation, Autosomal Dominant 39 3
Mental Retardation, Autosomal Dominant 4 1
Mental Retardation, Autosomal Dominant 41 2
Mental Retardation, Autosomal Dominant 42 1
Mental Retardation, Autosomal Dominant 43 3
Mental Retardation, Autosomal Dominant 44 2
Mental retardation, autosomal dominant 45 1
Mental retardation, autosomal dominant 48 1
Mental Retardation, Autosomal Dominant 49 1
Mental Retardation, Autosomal Dominant 5 2
Mental Retardation, Autosomal Dominant 50 1
Mental Retardation, Autosomal Dominant 51 2
Mental Retardation, Autosomal Dominant 52 2
Mental Retardation, Autosomal Dominant 55, with Seizures 2
Mental Retardation, Autosomal Dominant 56 2
Mental Retardation, Autosomal Dominant 6 3
Mental Retardation, Autosomal Dominant 7 4
Mental Retardation, Autosomal Dominant 8 3
Mental Retardation, Autosomal Dominant 9 1
Mental Retardation, Autosomal Dominant, 27 3
Mental Retardation, Autosomal Recessive 1 1
Mental Retardation, Autosomal Recessive 12 2
Mental Retardation, Autosomal Recessive 13 3
Mental Retardation, Autosomal Recessive 14 1
Mental Retardation, Autosomal Recessive 15 2
Mental Retardation, Autosomal Recessive 18 1
Mental Retardation, Autosomal Recessive 2 3
Mental Retardation, Autosomal Recessive 3 2
Mental Retardation, Autosomal Recessive 36 1
Mental retardation, autosomal recessive 41 1
Mental Retardation, Autosomal Recessive 43 1
Mental Retardation, Autosomal Recessive 44 2
Mental Retardation, Autosomal Recessive 46 2
Mental Retardation, Autosomal Recessive 47 2
Mental retardation, autosomal recessive 5 1
Mental Retardation, Autosomal Recessive 53 3
Mental Retardation, Autosomal Recessive 56 1
Mental Retardation, Autosomal Recessive 58 1
Mental Retardation, Autosomal Recessive 6 1
Mental Retardation, Autosomal Recessive 7 3
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations 6
Mental Retardation, with or without Nystagmus 4
Mental Retardation, X-Linked 1/78 5
Mental Retardation, X-linked 100 1
Mental Retardation, X-linked 101 2
Mental Retardation, X-Linked 102 5
Mental Retardation, X-linked 103 1
Mental Retardation, X-linked 104 2
Mental Retardation, X-linked 12/35 1
Mental Retardation, X-Linked 19 2
Mental Retardation, X-Linked 21 5
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) 5
Mental Retardation, X-Linked 30 5
Mental Retardation, X-Linked 41 3
Mental Retardation, X-Linked 46 1
Mental Retardation, X-linked 49 4
Mental Retardation, X-Linked 58 2
Mental Retardation, X-linked 61 1
Mental Retardation, X-Linked 63 4
Mental Retardation, X-Linked 72 5
Mental Retardation, X-Linked 9 2
Mental Retardation, X-Linked 90 5
Mental Retardation, X-Linked 93 2
Mental Retardation, X-Linked 96 1
Mental Retardation, X-Linked 97 2
Mental Retardation, X-linked 98 4
Mental Retardation, X-linked 99 1
Mental retardation, X-linked 99, Syndromic, Female-Restricted 1
Mental Retardation, X-linked, FRAXE Type 2
Mental Retardation, X-Linked, Syndromic 10 1
Mental Retardation, X-Linked, Syndromic 13 2
Mental Retardation, X-Linked, Syndromic 14 5
Mental Retardation, X-linked, Syndromic 32 2
Mental Retardation, X-linked, Syndromic 33 3
Mental Retardation, X-linked, Syndromic 34 2
Mental Retardation, X-linked, Syndromic, 35 2
Mental Retardation, X-linked, Syndromic, Bain Type 1
Mental Retardation, X-Linked, Syndromic, Christianson Type 8
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 6
Mental Retardation, X-Linked, Syndromic, Hedera Type 4
Mental Retardation, X-Linked, Syndromic, Nascimento Type 4
Mental Retardation, X-Linked, Syndromic, Raymond Type 3
Mental Retardation, X-Linked, Syndromic, Turner Type 3
Mental Retardation, X-Linked, Syndromic, Wu Type 3
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related 5
Mental Retardation, X-Linked, With Panhypopituitarism 3
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait 6
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 8
Merosin Deficient Congenital Muscular Dystrophy 6
Metacarpal 4-5 fusion 1
Metachondromatosis 4
Metachromatic Leukodystrophy 3
Metaphyseal Anadysplasia 2 1
Metaphyseal Chondrodysplasia, Jansen Type 2
Metaphyseal Chondrodysplasia, Mckusick Type 3
Metaphyseal Chondrodysplasia, Schmid Type 2
Metaphyseal Dysplasia Without Hypotrichosis 3
Metaphyseal Dysplasia, Spahr Type 1
Metatropic Dwarfism 3
Methemoglobinemia 2
Methemoglobinemia and Ambiguous Genitalia 3
Methemoglobinemia, alpha type 1
Methionine Adenosyltransferase I/III Deficiency 3
Methylmalonate Semialdehyde Dehydrogenase Deficiency 4
Methylmalonic Aciduria and Homocystinuria, cblC Type 6
Methylmalonic Aciduria and Homocystinuria, cblD Type 7
Methylmalonic Aciduria and Homocystinuria, cblF Type 4
Methylmalonic Aciduria and Homocystinuria, cblJ Type 3
Methylmalonic Aciduria Cbla Type 5
Methylmalonic Aciduria Cblb Type 5
Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency 5
Methylmalonic Aciduria Due To Transcobalamin Receptor Defect 5
Methylmalonyl-CoA Epimerase Deficiency 4
Mevalonic Aciduria 3
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 4
Microcephaly 18, Primary, Autosomal Dominant 1
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 2
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 2
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 1
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation 5
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy 1
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 2
Microcephaly, short stature, and polymicrogyria with seizures 2
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
Microcytic Anemia 1
Microphthalmia Syndromic 3 11
Microphthalmia Syndromic 5 6
Microphthalmia Syndromic 6 6
Microphthalmia Syndromic 7 5
Microphthalmia Syndromic 9 1
Microphthalmia With Limb Anomalies 2
Microphthalmia, Isolated 2 2
Microphthalmia, Isolated 3 2
Microphthalmia, Isolated 4 3
Microphthalmia, Isolated 5 7
Microphthalmia, Isolated 6 1
Microphthalmia, Isolated 8 1
Microphthalmia, Isolated, with Coloboma 10 1
Microphthalmia, Isolated, With Coloboma 3 2
Microphthalmia, Isolated, With Coloboma 6 2
Microphthalmia, Isolated, with Coloboma 9 1
Microphthalmia, Syndromic 13 1
Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome 1
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 3
Microvascular Complications Of Diabetes 3 1
Miller Syndrome 5
Miller-Dieker Lissencephaly Syndrome 1
Minicore Myopathy With External Ophthalmoplegia 5
MIRAGE syndrome 1
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency 2
Mitochondrial Complex I Deficiency 20
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency 4
Mitochondrial Complex II Deficiency 5
Mitochondrial Complex III Deficiency 2
Mitochondrial Complex III Deficiency, Nuclear Type 2 4
Mitochondrial Complex III Deficiency, Nuclear Type 3 3
Mitochondrial Complex III Deficiency, Nuclear Type 4 4
Mitochondrial Complex III Deficiency, Nuclear Type 5 3
Mitochondrial Complex III Deficiency, Nuclear Type 6 3
Mitochondrial Complex III Deficiency, Nuclear Type 7 3
Mitochondrial Complex III Deficiency, Nuclear Type 8 4
Mitochondrial Complex III Deficiency, Nuclear Type 9 3
Mitochondrial Complex IV Deficiency 13
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 3
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 7
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 3
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4 3
Mitochondrial DNA depletion syndrome 11 4
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) 4
Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD 2
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 8
Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) 3
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) 6
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type 7
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) 9
Mitochondrial DNA Depletion Syndrome 7 7
Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria) 9
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy 7
Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral 5
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome 7
Mitochondrial Phosphate Carrier Deficiency 3
Mitochondrial Pyruvate Carrier Deficiency 1
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency 3
Miyoshi Muscular Dystrophy 3 4
Miyoshi Myopathy 5
Mohr-Tranebjaerg Syndrome 4
Molybdenum Cofactor Deficiency C 2
Molybdenum Cofactor Deficiency Type A 2
Molybdenum Cofactor Deficiency Type B 1
Monoamine Oxidase A Deficiency 3
Monocarboxylate Transporter 1 Deficiency 2
Mononeuropathy Of The Median Nerve, Mild 1
MORM Syndrome 5
Morquio Syndrome A 3
Mosaic Variegated Aneuploidy Syndrome 2
Mosaic Variegated Aneuploidy Syndrome 2 1
Mosaic Variegated Aneuploidy Syndrome 3 1
Mowat-Wilson Syndrome 8
Moyamoya Disease 5 2
Mucolipidosis III Gamma 3
Mucopolysaccharidosis Type IX 1
Mucopolysaccharidosis Type VI 2
Mucopolysaccharidosis Type VII 4
Mucopolysaccharidosis, MPS-I-H/S 2
Mucopolysaccharidosis, MPS-I-S 3
Mucopolysaccharidosis, MPS-II 4
Mucopolysaccharidosis, MPS-III-A 3
Mucopolysaccharidosis, MPS-III-B 3
Mucopolysaccharidosis, MPS-III-C 4
Mucopolysaccharidosis, MPS-III-D 3
Mucopolysaccharidosis, MPS-IV-B 2
Muenke Syndrome 6
Muir-Torre Syndrome 9
Mullerian Aplasia And Hyperandrogenism 7
Multicentric carpotarsal osteolysis syndrome 1
Multiple Carboxylase Deficiency, Juvenile Onset 1
Multiple Carboxylase Defiency, Early Onset 3
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 5
Multiple congenital anomalies-hypotonia-seizures syndrome 3 1
Multiple Endocrine Neoplasia, Type 1 3
Multiple Endocrine Neoplasia, Type 2A 3
Multiple Endocrine Neoplasia, Type 2B 3
Multiple Endocrine Neoplasia, Type IV 2
Multiple Epiphyseal Dysplasia 1 4
Multiple Epiphyseal Dysplasia 2 5
Multiple Epiphyseal Dysplasia 3 5
Multiple Epiphyseal Dysplasia 4 4
Multiple Epiphyseal Dysplasia 5 4
Multiple Epiphyseal Dysplasia 6 5
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 2
Multiple Mitochondrial Dysfunctions Syndrome 1 2
Multiple Mitochondrial Dysfunctions Syndrome 2 2
Multiple Mitochondrial Dysfunctions Syndrome 3 2
Multiple Mitochondrial Dysfunctions Syndrome 4 2
Multiple Sulfatase Deficiency 4
Multiple Synostoses Syndrome 1 2
Multiple Synostoses Syndrome 2 2
Multiple Synostoses Syndrome 3 1
Multiple synostoses syndrome 4 2
Multiple system atrophy, susceptibility to 1
Multisystemic Smooth Muscle Dysfunction Syndrome 2
Muscle Eye Brain Disease 5
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency 4
Muscular Dystrophy, Congenital, LMNA-Related 6
Muscular Dystrophy, Congenital, Megaconial Type 4
Muscular Dystrophy, Limb Girdle, Type 2C 6
Muscular Dystrophy, Limb-Girdle, Type 1C 4
Muscular Dystrophy, Limb-Girdle, Type 1G 3
Muscular Dystrophy, Limb-Girdle, Type 2J 3
Muscular Dystrophy, Limb-Girdle, Type 2L 5
Muscular Dystrophy, Limb-Girdle, Type 2Q 4
Muscular dystrophy, limb-girdle, type 2R 2
Muscular dystrophy, limb-girdle, type 2S 4
Muscular Dystrophy, Limb-Girdle, Type 2W 4
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10; MDDGA10 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 4
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 5
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 8
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 5
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 3
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2 3
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 4
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 4
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 5
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 4
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 5
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 5
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 4
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 6
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 8
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 1
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 5
Myasthenia, Limb-Girdle, Familial 5
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 1
Myasthenic syndrome, congenital, 14, with tubular aggregates 1
Myasthenic Syndrome, Congenital, 15, without Tubular Aggregates 1
Myasthenic Syndrome, Congenital, 18 4
Myasthenic Syndrome, Congenital, 19 1
Myasthenic syndrome, congenital, 20, presynaptic 1
Myasthenic Syndrome, Congenital, 2A, Slow-Channel 2
Myasthenic syndrome, congenital, 3B, fast-channel 1
Myasthenic syndrome, congenital, 4A, slow-channel 1
Myasthenic syndrome, congenital, 4B, fast-channel 1
Myasthenic Syndrome, Congenital, 7, Presynaptic 3
Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects 2
Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 2
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency 6
Myasthenic Syndrome, Congenital, Fast-Channel 6
Myasthenic Syndrome, Congenital, Slow-Channel 7
Myasthenic syndrome, congenital, with tubular aggregates 2 4
Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive 1
Myd88 Deficiency 1
Myelodysplastic Syndrome 1
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to 4
Myh-Associated Polyposis 8
Myhre Syndrome 3
Myocardial Infarction 1 2
Myoclonic Dystonia 4
Myoclonic Epilepsy, Familial Infantile 3
Myoclonic-Atonic Epilepsy 3
Myoclonus, Intractable, Neonatal 1
Myofibrillar Myopathy, BAG3-Related 7
Myofibrillar Myopathy, Desmin-Related 4
Myofibrillar Myopathy, Filamin C-Related 3
Myofibrillar Myopathy, ZASP-Related 6
Myofibromatosis, Infantile, 1 2
Myofibromatosis, Infantile, 2 1
Myoglobinuria, Acute Recurrent, Autosomal Recessive 5
Myopathy due to Myoadenylate Deaminase Deficiency 2
Myopathy with Extrapyramidal Signs 2
Myopathy With Lactic Acidosis, Hereditary 4
Myopathy, Centronuclear 4
Myopathy, Centronuclear, 1 4
Myopathy, Centronuclear, 3 1
Myopathy, Congenital, Compton-North 5
Myopathy, Distal, 1 3
Myopathy, Distal, 2 4
Myopathy, Distal, 4 3
Myopathy, Distal, Tateyama Type 2
Myopathy, Distal, With Anterior Tibial Onset 4
Myopathy, distal, with rimmed vacuoles 1
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia 5
Myopathy, Early-Onset, With Fatal Cardiomyopathy 2
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 1
Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay 1
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 3
Myopathy, Myosin Storage 4
Myopathy, Myosin Storage, Autosomal Recessive 2
Myopathy, Reducing Body, X-Linked, Childhood-Onset 1
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 2
Myopathy, tubular aggregate 3
Myopathy, X-Linked, With Postural Muscle Atrophy 2
Myopia, High, with Cataract And Vitreoretinal Degeneration 1
Myosclerosis, Autosomal Recessive 1
Myotilinopathy 4
Myotonia Congenita Autosomal Recessive 2
Naegeli-Franceschetti-Jadassohn Syndrome 1
Nail Disorder, Nonsyndromic Congenital, 8 1
Nail-Patella Syndrome 4
Nance-Horan Syndrome 4
Nanophthalmos 2 2
Native American myopathy 5
Navajo Neurohepatopathy 3
Naxos Disease 3
Nemaline Myopathy 1 5
Nemaline Myopathy 10 4
Nemaline Myopathy 2 7
Nemaline Myopathy 3 6
Nemaline Myopathy 4 5
Nemaline Myopathy 5 5
Nemaline Myopathy 6 5
Nemaline Myopathy 7 5
Nemaline Myopathy 8 7
Nemaline Myopathy 9 5
Neoplasm Of Ovary 6
Neoplasm Of Stomach 3
Nephrogenic Syndrome Of Inappropriate Antidiuresis 3
Nephrolithiasis, Calcium Oxalate 2
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 2
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 2
Nephronophthisis 6
Nephronophthisis 11 5
Nephronophthisis 12 4
Nephronophthisis 13 3
Nephronophthisis 14 2
Nephronophthisis 15 4
Nephronophthisis 16 4
Nephronophthisis 18 4
Nephronophthisis 19 3
Nephronophthisis 20 1
Nephronophthisis 4 5
Nephronophthisis 7 4
Nephronophthisis 9 4
Nephronophthisis-Like Nephropathy 1 1
Nephrotic Syndrome, Idiopathic, Steroid-Resistant 2
Nephrotic Syndrome, Type 10 2
Nephrotic Syndrome, Type 11 4
Nephrotic Syndrome, Type 12 2
Nephrotic Syndrome, Type 13 2
Nephrotic Syndrome, Type 14 1
Nephrotic Syndrome, Type 15 2
Nephrotic Syndrome, Type 3 3
Nephrotic syndrome, type 4 5
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities 3
Nephrotic Syndrome, Type 6 1
Nephrotic Syndrome, Type 7 3
Nephrotic Syndrome, Type 8 1
Nephrotic syndrome, type 9 4
Netherton Syndrome 4
Neu-Laxova syndrome 1 1
Neural Tube Defects, Folate-Sensitive 2
Neuroblastoma 1 4
Neuroblastoma 2 5
Neuroblastoma 3 4
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 1
Neurodegeneration With Brain Iron Accumulation 1 2
Neurodegeneration With Brain Iron Accumulation 2B 3
Neurodegeneration With Brain Iron Accumulation 4 3
Neurodegeneration With Brain Iron Accumulation 5 7
Neurodegeneration With Brain Iron Accumulation 6 2
Neurodegeneration, childhood-onset, with brain atrophy 1
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language 2
Neurodevelopmental Disorder with Involuntary Movements 1
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 1
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 1
Neuroferritinopathy 2
Neurofibromatosis, Familial Spinal 4
Neurofibromatosis, Type 1 14
Neurofibromatosis, Type 2 3
Neurofibromatosis-Noonan Syndrome 5
Neuromyotonia and axonal neuropathy, autosomal recessive 4
Neuronopathy, Distal Hereditary Motor, Type VIIB 4
Neuronopathy, Distal Hereditary Motor, Type IIC 2
Neuronopathy, Distal Hereditary Motor, Type IID 1
Neuronopathy, Distal Hereditary Motor, Type VB 3
Neuronopathy, Distal Hereditary Motor, Type VIIA 4
Neuropathy, Hereditary Motor and Sensory, Okinawa Type 2
Neuropathy, Hereditary Motor and Sensory, Type VIA 7
Neuropathy, Hereditary Motor and Sensory, Type VIB 1
Neuropathy, Hereditary Sensory And Autonomic, Type 1A 3
Neuropathy, Hereditary Sensory And Autonomic, Type IC 2
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 2
Neuropathy, Hereditary Sensory And Autonomic, Type IIB 2
Neuropathy, Hereditary Sensory And Autonomic, Type V 3
Neuropathy, Hereditary Sensory and Autonomic, Type VI 1
Neuropathy, Hereditary Sensory and Autonomic, Type VII 2
Neuropathy, Hereditary Sensory and Autonomic, Type VIII 2
Neuropathy, Hereditary Sensory, Type ID 2
Neuropathy, Hereditary Sensory, Type IE 5
Neuropathy, Hereditary Sensory, Type IF 1
Neuropathy, Hereditary Sensory, Type IIC 3
Neuropathy, Hereditary Sensory, With Spastic Paraplegia 5
Neuropathy, Hereditary, with or without Age-Related Macular Degeneration 3
Neutral Lipid Storage Disease With Myopathy 5
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults 4
Neutropenia, Severe Congenital, 2, Autosomal Dominant 4
Neutropenia, Severe Congenital, 4, Autosomal Recessive 3
Neutropenia, Severe Congenital, 5, Autosomal Recessive 3
Neutropenia, Severe Congenital, 6, Autosomal Recessive 2
Neutropenia, severe congenital, 7, autosomal recessive 2
Neutrophil Immunodeficiency Syndrome 2
Newfoundland Rod-Cone Dystrophy 4
Nicolaides-Baraitser Syndrome 1
Niemann-Pick Disease Type C1 3
Niemann-Pick Disease Type C2 3
Niemann-Pick Disease, Type A 1
Niemann-Pick Disease, Type B 2
Night Blindness, Congenital Stationary, Nougaret Type 2
Night Blindness, Congenital Stationary, Rambusch Type 5
Night Blindness, Congenital Stationary, Rhodopsin-Related 4
Night Blindness, Congenital Stationary, Type 1A 3
Night Blindness, Congenital Stationary, Type 1B 2
Night Blindness, Congenital Stationary, Type 1C 2
Night Blindness, Congenital Stationary, Type 1D 5
Night Blindness, Congenital Stationary, Type 1E 2
Night Blindness, Congenital Stationary, Type 1F 3
Night Blindness, Congenital Stationary, Type 1G 2
Night Blindness, Congenital Stationary, Type 2A 5
Night Blindness, Congenital Stationary, Type 2B 6
Nijmegen Breakage Syndrome 11
Nijmegen Breakage Syndrome-Like Disorder 4
Non-Herlitz Junctional Epidermolysis Bullosa 8
Noonan Syndrome 1 11
Noonan Syndrome 10 3
Noonan Syndrome 3 4
Noonan Syndrome 4 8
Noonan Syndrome 5 7
Noonan Syndrome 6 6
Noonan Syndrome 7 5
Noonan Syndrome 8 3
Noonan Syndrome 9 2
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia 5
Noonan-Like Syndrome With Loose Anagen Hair 4
Norrie Disease 6
Norum Disease 1
Nystagmus 6, Congenital, X-Linked 3
Obesity 5
Obesity, Hyperphagia, And Developmental Delay 2
Obesity, Morbid, Due to Leptin Deficiency 8
Obesity, Morbid, Due to Leptin Receptor Deficiency 8
Obsessive-Compulsive Disorder 1
Occipital Horn Syndrome 3
Occult Macular Dystrophy 2
Ocular Albinism, Type I 3
Oculoauricular Syndrome 1
Oculocutaneous Albinism Type 1A 4
Oculocutaneous Albinism Type 1B 4
Oculocutaneous Albinism Type 3 3
Oculocutaneous Albinism Type IV 3
Oculodentodigital Dysplasia 5
Oculodentodigital Dysplasia, Autosomal Recessive 3
Oculofaciocardiodental Syndrome 9
Oculomaxillofacial Dysostosis 3
Oculopharyngeal Muscular Dystrophy 1
Odontoonychodermal Dysplasia 2
Ogden Syndrome 4
Oguchi Disease 2 2
Oguchi's Disease 2
OHDO Syndrome, X-linked; OHDOX 4
Oligodontia-Colorectal Cancer Syndrome 5
Omenn Syndrome 6
Omodysplasia 1 1
Oocyte Maturation Defect 3
Opitz G/BBB Syndrome, Type I 7
Opitz GBBB syndrome, type II 6
Opsismodysplasia 1
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures 1
Optic atrophy 5 1
Optic Atrophy 7 3
Optic Atrophy And Cataract, Autosomal Dominant 5
Optic Atrophy Type 1 6
Optic Disc Anomalies with Retinal and/or Macular Dystrophy 1
Optic Nerve Hypoplasia, Bilateral 3
Oral-Facial-Digital Syndrome 4
Ornithine Carbamoyltransferase Deficiency 5
Orofacial Cleft 11 2
Orofacial Cleft 6, Susceptibility To 3
Orofaciodigital Syndrome IV 2
Orofaciodigital Syndrome V 1
Orofaciodigital syndrome VI 1
Orofaciodigital Syndrome XIV 1
Orofaciodigital Syndrome XVI 1
Orotic Aciduria 1
Osler Hemorrhagic Telangiectasia Syndrome 3
Osteitis Deformans 5
Osteoarthritis Of Distal Interphalangeal Joint 1
Osteoarthritis With Mild Chondrodysplasia 5
Osteochondritis Dissecans 1
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 3
Osteodysplastic Primordial Dwarfism, Type 1 1
Osteogenesis Imperfecta Type III 5
Osteogenesis Imperfecta, Type I 5
Osteogenesis Imperfecta, Type II 5
Osteogenesis Imperfecta, Type IV 5
Osteogenesis Imperfecta, Type IX 3
Osteogenesis imperfecta, type V 4
Osteogenesis Imperfecta, Type VI 4
Osteogenesis Imperfecta, Type VII 4
Osteogenesis Imperfecta, Type VIII 4
Osteogenesis Imperfecta, Type X 4
Osteogenesis Imperfecta, Type XI 4
Osteogenesis Imperfecta, Type XII 4
Osteogenesis Imperfecta, Type XIII 4
Osteogenesis Imperfecta, Type XIV 4
Osteogenesis Imperfecta, Type XV 4
Osteogenesis Imperfecta, Type XVII 4
Osteogenesis imperfecta, type XVIII 3
Osteoglophonic Dysplasia 7
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis 1
Osteopathia Striata With Cranial Sclerosis 1
Osteopetrosis Autosomal Dominant Type 1 3
Osteopetrosis Autosomal Dominant Type 2 3
Osteopetrosis Autosomal Recessive 1 3
Osteopetrosis Autosomal Recessive 2 3
Osteopetrosis Autosomal Recessive 4 3
Osteopetrosis Autosomal Recessive 5 3
Osteopetrosis Autosomal Recessive 7 4
Osteopetrosis With Renal Tubular Acidosis 5
Osteopetrosis, Autosomal Recessive 8 3
Osteoporosis 3
Osteoporosis With Pseudoglioma 1
Oto-Palato-Digital Syndrome Type 1 5
Oto-Palato-Digital Syndrome, Type II 6
Otofaciocervical Syndrome 2
Otospondylomegaepiphyseal Dysplasia 6
Ovalocytosis 1
Ovalocytosis, SA type 1
Ovarian Dysgenesis 1 6
Ovarian Dysgenesis 2 6
Ovarian Dysgenesis 3 5
Ovarian Dysgenesis 4 5
Ovarian Dysgenesis 5 2
Ovarian Hyperstimulation Syndrome 4
Pachydermoperiostosis 1
Paget Disease of Bone 3 2
Pallister-Hall Syndrome 7
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal 5
Palmoplantar Keratoderma and Woolly Hair 2
Palmoplantar keratoderma with congenital alopecia 1
Palmoplantar Keratoderma, Epidermolytic 3
Palmoplantar Keratoderma, Nonepidermolytic 1
Pancreatic Agenesis, Congenital 1
Pancreatic Cancer 2
Pancreatic Cancer 1 2
Pancreatic Cancer 2 6
Pancreatic Cancer 3 5
Pancreatic Cancer 4 8
Pancreatitis, Chronic 7
Panhypopituitarism X-Linked 7
Panic Disorder 1 1
Papillon-Lefevre Syndrome 2
Papillorenal Syndrome 5
Paraganglioma And Gastric Stromal Sarcoma 6
Paragangliomas 1 4
Paragangliomas 2 4
Paragangliomas 3 5
Paragangliomas 4 6
Paragangliomas 5 6
Paramyotonia Congenita Of Von Eulenburg 2
Parastremmatic Dwarfism 3
Parathyroid Carcinoma 4
Parietal Foramina 3
Parietal Foramina 2 1
Parietal Foramina With Cleidocranial Dysplasia 3
Parkinson Disease 1 4
Parkinson Disease 11 2
Parkinson Disease 13 2
Parkinson Disease 14 3
Parkinson Disease 15 3
Parkinson Disease 17 3
Parkinson Disease 18 2
Parkinson Disease 19 2
Parkinson Disease 2 4
Parkinson Disease 20 2
Parkinson disease 22, autosomal dominant 2
Parkinson disease 23, autosomal recessive, early onset 2
Parkinson Disease 4 4
Parkinson Disease 5 2
Parkinson Disease 6, Autosomal Recessive Early-Onset 4
Parkinson Disease 7 3
Parkinson Disease 8 4
Parkinson's Disease 1
Parkinson-Dementia Syndrome 1
Parkinsonism with Spasticity, X-Linked 2
Paroxysmal Choreoathetosis 3
Paroxysmal Extreme Pain Disorder 2
Paroxysmal Nocturnal Hemoglobinuria 2
Partial Albinism 2
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 1
Partington X-Linked Mental Retardation Syndrome 3
Patent ductus arteriosus 2 1
Patterned Dystrophy Of Retinal Pigment Epithelium 5
Peeling Skin Syndrome, Acral Type 2
PEHO syndrome 1
Pelger-Huet Anomaly 2
Pelizaeus-Merzbacher Disease 4
Pendred Syndrome 3
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease 9
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss 1
Periventricular Nodular Heterotopia 7 1
Perlman Syndrome 4
Permanent Neonatal Diabetes Mellitus 3
Peroxisomal Acyl-CoA Oxidase Deficiency 3
Peroxisome biogenesis disorder 10A (Zellweger) 5
Peroxisome biogenesis disorder 11A (Zellweger) 4
Peroxisome biogenesis disorder 11B 3
Peroxisome biogenesis disorder 12A (Zellweger) 4
Peroxisome biogenesis disorder 13A (Zellweger) 5
Peroxisome Biogenesis Disorder 14B 4
Peroxisome biogenesis disorder 1A (Zellweger) 8
Peroxisome biogenesis disorder 1B (NALD/IRD) 4
Peroxisome biogenesis disorder 2A (Zellweger) 5
Peroxisome biogenesis disorder 2B 4
Peroxisome biogenesis disorder 3A (Zellweger) 5
Peroxisome biogenesis disorder 3B 3
Peroxisome biogenesis disorder 4A (Zellweger) 4
Peroxisome biogenesis disorder 4B 4
Peroxisome biogenesis disorder 5A (Zellweger) 4
Peroxisome biogenesis disorder 5B 3
Peroxisome biogenesis disorder 6A (Zellweger) 4
Peroxisome biogenesis disorder 6B 4
Peroxisome biogenesis disorder 7A (Zellweger) 5
Peroxisome biogenesis disorder 7B 3
Peroxisome biogenesis disorder 8A, (Zellweger) 4
Peroxisome biogenesis disorder 8B 5
Peroxisome Biogenesis Disorder 9B 4
Perrault Syndrome 5
Perrault Syndrome 2 2
Perrault Syndrome 3 5
Perrault Syndrome 4 2
Perrault Syndrome 5 4
Perry Syndrome 4
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 2
Persistent Mullerian Duct Syndrome 3
Peters Anomaly 3
Peters Plus Syndrome 6
Pettigrew Syndrome 4
Peutz-Jeghers Syndrome 10
Pfeiffer Syndrome 10
Phelan-Mcdermid Syndrome 4
Phenylketonuria 3
Pheochromocytoma 10
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 4
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 3
Phosphoglycerate Dehydrogenase Deficiency 1
Phosphoglycerate Kinase 1 Deficiency 5
Phosphoribosylpyrophosphate Synthetase Superactivity 1
Pick's Disease 1
Pierson Syndrome 2
Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-linked 2
Pigmentary Retinal Dystrophy 13
Pigmented Nodular Adrenocortical Disease, Primary, 1 3
Pigmented Nodular Adrenocortical Disease, Primary, 2 1
Pigmented Paravenous Chorioretinal Atrophy 3
Pilomatrixoma 1
Pitt-Hopkins Syndrome 7
Pitt-Hopkins-like syndrome 2 7
Pituitary adenoma 3, multiple types, somatic 1
Pituitary Adenoma, Growth Hormone-Secreting 2
Pituitary Dependent Hypercortisolism 1
Pituitary Hormone Deficiency, Combined 1 2
Pituitary Hormone Deficiency, Combined 2 9
Pituitary Hormone Deficiency, Combined 3 6
Pituitary Hormone Deficiency, Combined 4 8
Pituitary Hormone Deficiency, Combined, 6 2
Pityriasis rubra pilaris 3
Plasminogen Activator Inhibitor Type 1 Deficiency 2
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 1
Platelet Glycoprotein IV Deficiency 3
Platyspondylic Lethal Skeletal Dysplasia Torrance Type 4
Pleuropulmonary Blastoma 7
Pneumothorax, Primary Spontaneous 2
Poikiloderma With Neutropenia 2
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
Polyarteritis nodosa, childhood-onset 1
Polycyctic Kidney Disease 3 5
Polycystic Kidney Disease 1 6
Polycystic Kidney Disease 2 5
Polycystic Kidney Disease 5 4
Polycystic Kidney Disease 6 with or without Polycystic Liver Disease 1
Polycystic Kidney Disease, Infantile Type 4
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 4
Polycystic Liver Disease 2 2
Polycystic liver disease 3 with or without kidney cysts 1
Polycystic Liver Disease 4 with or without Kidney Cysts 1
Polydactyly Preaxial Type 4 4
Polydactyly, Postaxial, Type A1 4
Polydactyly, Preaxial II 2
Polyglandular Autoimmune Syndrome, Type 1 7
Polyglucosan body disease, adult form 3
Polyglucosan Body Myopathy 1 with or without Immunodeficiency 3
Polyglucosan Body Myopathy 2 3
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy 2
Polymicrogyria With Optic Nerve Hypoplasia 1
Polymicrogyria, Asymmetric 2
Polymicrogyria, Bilateral Frontoparietal 3
Polymicrogyria, bilateral perisylvian 1
Polymorphous Corneal Dystrophy 2
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 3
Polyostotic Osteolytic Dysplasia, Hereditary Expansile 5
Pontocerebellar Hypoplasia Type 1 2
Pontocerebellar Hypoplasia Type 10 2
Pontocerebellar Hypoplasia Type 11 2
Pontocerebellar Hypoplasia Type 1B 3
Pontocerebellar Hypoplasia Type 2A 2
Pontocerebellar Hypoplasia Type 2B 2
Pontocerebellar Hypoplasia Type 2C 2
Pontocerebellar Hypoplasia Type 2D 2
Pontocerebellar Hypoplasia Type 2E 2
Pontocerebellar Hypoplasia Type 2F 2
Pontocerebellar Hypoplasia Type 4 2
Pontocerebellar Hypoplasia Type 5