TESTS BY DISEASE

Tests Found:

2943

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-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency 3
3-M Syndrome 2
3-Methylcrotonyl CoA Carboxylase 2 Deficiency 4
3-Methylglutaconic Aciduria 2
3-Methylglutaconic Aciduria Type 2 7
3-Methylglutaconic Aciduria Type 3 3
3-Methylglutaconic Aciduria Type V 1
3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency 4
46,XX Sex Reversal, Type 1 5
46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 1
46,XY Sex Reversal, Type 1 1
46,XY Sex Reversal, Type 2 1
46,XY Sex Reversal, Type 3 2
46,XY Sex Reversal, Type 5 4
46,XY Sex Reversal, Type 6 4
46,XY Sex Reversal, Type 7 5
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 2
Aarskog Syndrome 4
ABCD Syndrome 1
Aceruloplasminemia 2
Acetylation, Slow 1
Acheiropody 1
Achondrogenesis Type 2 3
Achondrogenesis, Type Ia 2
Achondrogenesis, Type Ib 4
Achondroplasia 5
Achromatopsia 2 3
Achromatopsia 3 2
Achromatopsia 4 3
Achromatopsia 7 1
Acrocallosal Syndrome, Schinzel Type 3
Acrodysostosis 2
Acrodysostosis 2, with or without Hormone Resistance 1
Acrofacial Dysostosis 1, Nager Type 4
Acromesomelic Dysplasia Hunter Thompson Type 2
Acromesomelic Dysplasia Maroteaux Type 1
Acute Intermittent Porphyria 3
Adams-Oliver Syndrome 1 2
Adams-Oliver Syndrome 2 3
Adams-Oliver Syndrome 3 2
Adams-Oliver Syndrome 4 2
Adams-Oliver Syndrome 5 1
Adams-Oliver Syndrome 6 1
Adenine Phosphoribosyltransferase Deficiency 1
Adenomatous Polyposis Coli 4
Adenylosuccinate Lyase Deficiency 2
Adolescent Nephronophthisis 3
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency 1
Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete 4
Adrenocortical Carcinoma, Hereditary 1
Adrenoleukodystrophy 4
Adult Hypophosphatasia 5
Adult Onset Ataxia With Oculomotor Apraxia 4
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 1
ADULT Syndrome 2
Afibrinogenemia, congenital 6
AGAT Deficiency 1
Age-Related Macular Degeneration 1 1
Age-Related Macular Degeneration 6 2
Agnathia-Otocephaly Complex 2
Aicardi-Goutieres Syndrome 1 1
Aicardi-Goutieres Syndrome 2 2
Aicardi-Goutieres Syndrome 3 2
Aicardi-Goutieres Syndrome 4 2
Aicardi-Goutieres Syndrome 5 2
Aicardi-Goutieres Syndrome 6 1
Aicardi-Goutieres Syndrome 7 2
Al-Raqad Syndrome 1
Alagille Syndrome 1 5
Alagille Syndrome 2 4
Aland Island Eye Disease 3
Alazami Syndrome 1
Alazami-Yuan Syndrome 1
Albinism, Ocular, With Sensorineural Deafness 3
Albinism, Oculocutaneous, Type VII 2
Alexander Disease 1
Alkaptonuria 1
Allan-Herndon-Dudley Syndrome 6
Alpha-1-Antitrypsin Deficiency 2
Alpha-B Crystallinopathy 5
Alpha-Methylacetoacetic Aciduria 4
Alpha-Methylacyl-CoA Racemase Deficiency 1
Alpha-Thalassemia Myelodysplasia Syndrome 1
Alport Syndrome, Autosomal Dominant 3
Alport Syndrome, Autosomal Recessive 4
Alport Syndrome, X-Linked Recessive 3
Alstrom Syndrome 4
Alternating Hemiplegia Of Childhood 1
Alzheimer Disease, Type 3 2
Alzheimer Disease, Type 4 3
Alzheimer's Disease 2
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 2
Amelogenesis Imperfecta, Type IG (Enamel-Renal Syndrome) 2
Amelogenesis Imperfecta, Type IH 1
Amelogenesis Imperfecta, Type IIA5 1
Amelogenesis Imperfecta, Type III 2
Amelogenesis Imperfecta, Type IV 2
Aminoacylase 1 Deficiency 3
Amish Infantile Epilepsy Syndrome 3
Aml - Acute Myeloid Leukemia 3
Amyloidogenic Transthyretin Amyloidosis 7
Amyloidosis, Finnish Type 1
Amyotrophic Lateral Sclerosis 16, Juvenile 1
Amyotrophic Lateral Sclerosis Type 1 3
Amyotrophic Lateral Sclerosis Type 10 4
Amyotrophic Lateral Sclerosis Type 12 2
Amyotrophic Lateral Sclerosis Type 14 1
Amyotrophic Lateral Sclerosis Type 15 3
Amyotrophic Lateral Sclerosis Type 17 2
Amyotrophic Lateral Sclerosis Type 18 2
Amyotrophic Lateral Sclerosis Type 20 3
Amyotrophic Lateral Sclerosis Type 4 1
Amyotrophic Lateral Sclerosis Type 6 4
Amyotrophic Lateral Sclerosis Type 8 2
Amyotrophic Lateral Sclerosis Type 9 2
Anauxetic Dysplasia 2
Andermann Syndrome 2
Andersen Tawil Syndrome 6
Androgen Resistance Syndrome 5
Angelman Syndrome 3
Aniridia, Cerebellar Ataxia, And Mental Retardation 2
Anterior Segment Mesenchymal Dysgenesis 4
Anti-Plasmin Deficiency, Congenital 3
Antithrombin III Deficiency 1
Antley-Bixler Syndrome 5
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis 5
Aortic Aneurysm, Familial Thoracic 4 4
Aortic Aneurysm, Familial Thoracic 6 4
Aortic Aneurysm, Familial Thoracic 7 4
Aortic Aneurysm, Familial Thoracic 8 3
Aortic Aneurysm, Familial Thoracic 9 2
Aortic Valve Disorder 1
Apert Syndrome 5
Aphakia, Congenital Primary 2
Apolipoprotein C2 Deficiency 1
Apparent Mineralocorticoid Excess 1
Arginase Deficiency 3
Argininosuccinate Lyase Deficiency 3
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 5
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 7
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 7
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 7
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 5
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 8
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 6
Arterial Calcification Of Infancy 2
Arterial Tortuosity Syndrome 3
Arthrogryposis Multiplex Congenita Distal Type 1 3
Arthrogryposis Renal Dysfunction Cholestasis Syndrome 2
Arthrogryposis, Distal, Type 1B 2
Arthrogryposis, Distal, Type 2B 6
Arthrogryposis, Distal, Type 3 3
Arthrogryposis, Distal, Type 5 3
Arthrogryposis, distal, type 5D 4
Arthrogryposis, Distal, Type 7 1
Arthrogryposis, Distal, Type 8 1
Arthrogryposis, Distal, with Impaired Proprioception and Touch 1
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 2
Arts Syndrome 2
Aspartylglycosaminuria 1
Asperger Syndrome, X-Linked, Susceptibility To, 2 1
Ataxia With Vitamin E Deficiency 1
Ataxia-Oculomotor Apraxia 3 1
Ataxia-Telangiectasia Syndrome 5
Ataxia-Telangiectasia-Like Disorder 3
Atelosteogenesis, type I 2
Atelosteogenesis, Type II 4
Atelosteogenesis, type III 2
Athabaskan Brainstem Dysgenesis 1
ATR-X Syndrome 7
Atrial Fibrillation, Familial, 10 5
Atrial Fibrillation, Familial, 11 4
Atrial Fibrillation, Familial, 12 7
Atrial Fibrillation, Familial, 13 2
Atrial Fibrillation, Familial, 14 5
Atrial Fibrillation, Familial, 18 2
Atrial Fibrillation, Familial, 3 5
Atrial Fibrillation, Familial, 4 4
Atrial Fibrillation, Familial, 6 4
Atrial Fibrillation, Familial, 7 5
Atrial Fibrillation, Familial, 9 4
Atrial Myxoma, Familial 2
Atrial Septal Defect 2 1
Atrial Septal Defect 3 5
Atrial Septal Defect 5 5
Atrial Septal Defect With Atrioventricular Conduction Defects 5
Atrioventricular Septal Defect 2 1
Atrioventricular Septal Defect 4 1
Autism 10 1
Autism, Susceptibility to, 18 1
Autism, Susceptibility To, X-Linked 2 3
Autism, Susceptibility to, X-linked 4 2
Autism, Susceptibility To, X-Linked 5 1
Autoimmune Disease, Multisystem, Infantile-Onset, 1 1
Autoimmune Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type 2 1
Autoimmune Lymphoproliferative Syndrome, Type III 1
Autoimmune Lymphoproliferative Syndrome, Type V 1
Autoinflammatory Syndrome, Familial, Behcet-like 1
Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E 6
Autosomal Recessive Centronuclear Myopathy 4
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 3A 1
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 3
Autosomal Recessive Hypophosphatemic Bone Disease 4
Avascular Necrosis Of Femoral Head, Primary 3
Avellino Corneal Dystrophy 2
Axenfeld-Rieger Syndrome Type 3 3
Axenfeld-Rieger syndrome, type 1 3
Ayme-Gripp Syndrome 1
Baller-Gerold Syndrome 2
Bamforth Syndrome 1
Bannayan-Riley-Ruvalcaba Syndrome 6
Baraitser-Winter Syndrome 1 1
Baraitser-Winter Syndrome 2 1
Barakat Syndrome 3
Bardet-Biedl Syndrome 1 9
Bardet-Biedl Syndrome 10 8
Bardet-Biedl Syndrome 11 8
Bardet-Biedl Syndrome 12 8
Bardet-Biedl Syndrome 13 3
Bardet-Biedl Syndrome 14 3
Bardet-Biedl Syndrome 15 3
Bardet-Biedl Syndrome 16 4
Bardet-Biedl Syndrome 17 3
Bardet-Biedl Syndrome 18 3
Bardet-Biedl Syndrome 19 3
Bardet-Biedl Syndrome 2 7
Bardet-Biedl Syndrome 3 7
Bardet-Biedl Syndrome 4 8
Bardet-Biedl Syndrome 5 8
Bardet-Biedl Syndrome 6 8
Bardet-Biedl Syndrome 7 8
Bardet-Biedl Syndrome 8 7
Bardet-Biedl Syndrome 9 8
Bartter Syndrome Antenatal Type 1 2
Bartter Syndrome Antenatal Type 2 2
Bartter Syndrome Type 4 2
Basal Ganglia Calcification, Idiopathic, 1 1
Basal Ganglia Calcification, Idiopathic, 4 2
Basal Ganglia Calcification, Idiopathic, 5 1
Basal Ganglia Calcification, Idiopathic, 6 1
Basal Ganglia Disease, Biotin-Responsive 3
Basel-Vanagait-Smirin-Yosef Syndrome 1
Becker Muscular Dystrophy 3
Beckwith-Wiedemann Syndrome 1
Behr Syndrome 1
Benign Familial Hematuria 1
Benign Familial Neonatal Seizures 1 1
Benign Familial Neonatal-Infantile Seizures 1
Benign Hereditary Chorea 1
Benign Recurrent Intrahepatic Cholestasis 1 2
Benign Recurrent Intrahepatic Cholestasis 2 2
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 2
Bent bone dysplasia syndrome 4
Bernard Soulier Syndrome 8
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 5
Bestrophinopathy, Autosomal Recessive 3
Beta-D-Mannosidosis 1
Bethlem Myopathy 7
Bethlem Myopathy 2 5
BH4-Deficient Hyperphenylalaninemia D 3
Bietti Crystalline Corneoretinal Dystrophy 1
Bile Acid Synthesis Defect, Congenital, 1 2
Bile Acid Synthesis Defect, Congenital, 2 2
Bile Acid Synthesis Defect, Congenital, 3 1
Bile Acid Synthesis Defect, Congenital, 5 2
Birt-Hogg-Dube Syndrome 2
Bjornstad Syndrome 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, 17 2
Bleeding Disorder, Platelet-Type, 18 1
Bleeding Disorder, Platelet-Type, 19 2
Bleeding Disorder, Platelet-Type, 8 3
Bleeding Disorder, Platelet-Type, 9 2
Blepharophimosis, Ptosis, And Epicanthus Inversus 5
Bloom Syndrome 4
Bone Marrow Failure Syndrome 1 2
Bone Mineral Density QTL18, Osteoporosis 3
Boomerang Dysplasia 2
Borjeson-Forssman-Lehmann Syndrome 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 3
Bothnia Retinal Dystrophy 6
Brachydactyly Type A1 1
Brachydactyly Type A2 2
Brachydactyly Type C 2
Brachydactyly, type A1, C 1
Brachydactyly, Type B1 2
Brachydactyly, Type B2 2
Brachydactyly, Type D 1
Brachydactyly, Type E1 1
Brachydactyly, Type E2 1
Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 2
Brachyolmia Type 3 1
Brain Small Vessel Disease With Hemorrhage 2
Branched-chain ketoacid dehydrogenase kinase deficiency 3
Branchiooculofacial Syndrome 1
Branchiootic syndrome 1 2
Branchiootic Syndrome 3 3
Branchiootorenal Syndrome 1, with or without Cataracts 2
Branchiootorenal Syndrome 2 3
Breast-Ovarian Cancer, Familial 1 5
Breast-Ovarian Cancer, Familial 2 6
Breast-Ovarian Cancer, Familial 3 3
Breast-Ovarian Cancer, Familial 4 4
Brittle Cornea Syndrome 1 3
Brittle Cornea Syndrome 2 1
Brody Myopathy 1
Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere syndrome 2 1
Bruck Syndrome 2 4
Brugada Syndrome 1 6
Brugada Syndrome 2 5
Brugada Syndrome 3 4
Brugada Syndrome 4 6
Brugada Syndrome 5 4
Brugada Syndrome 6 5
Brugada Syndrome 7 5
Brugada Syndrome 8 4
Brugada Syndrome 9 4
Bullous Erythroderma Ichthyosiformis Congenita Of Brocq 2
Burn-McKeown Syndrome 1
Butyrylcholinesterase Deficiency 1
C-Like Syndrome 1
Caffey Disease 3
Camptodactyly, Tall Stature, And Hearing Loss Syndrome 5
Camptomelic Dysplasia 6
Camptosynpolydactyly, Complex 2
Camurati-Engelmann Disease 2
Carcinoid Tumors, Intestinal 3
Cardiac Conduction Disease with or without Dilated Cardiomyopathy 1
Cardiac Valvular Dysplasia, X-Linked 4
Cardio-Facio-Cutaneous Syndrome 3
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 5
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 3
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 2
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 2
Cardiofaciocutaneous syndrome 2 5
Cardiofaciocutaneous syndrome 3 6
Cardiofaciocutaneous syndrome 4 6
Cardiomyopathy Dilated With Woolly Hair And Keratoderma 5
Cardiomyopathy, Dilated, 1Hh 4
Cardiomyopathy, dilated, 1II 3
Cardiomyopathy, dilated, 1JJ 4
Cardiomyopathy, Dilated, 1KK 4
Cardiomyopathy, Dilated, 2B 3
Cardiomyopathy, Dilated, 3B 4
Cardiomyopathy, Familial Hypertrophic, 17 4
Cardiomyopathy, Familial Hypertrophic, 19 2
Cardiomyopathy, Familial Restrictive, 1 3
Cardiomyopathy, Familial Restrictive, 3 3
Carney Complex Variant 1
Carney Complex, Type 1 4
Carnitine Palmitoyltransferase I Deficiency 4
Carnitine Palmitoyltransferase II Deficiency, Infantile 4
Carnitine Palmitoyltransferase II Deficiency, Late-Onset 4
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 4
Carnitine-Acylcarnitine Translocase Deficiency 4
Carpenter Syndrome 1
Carpenter Syndrome 2 1
Caspase-8 Deficiency 1
Cataract 10 2
Cataract 11 2
Cataract 12 1
Cataract 13 1
Cataract 14 2
Cataract 15 1
Cataract 16 1
Cataract 17 2
Cataract 18 1
Cataract 19 1
Cataract 2 2
Cataract 20 1
Cataract 21 2
Cataract 22 2
Cataract 23 3
Cataract 3 2
Cataract 30 1
Cataract 31 1
Cataract 33 2
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 2
Cataract, Zonular Pulverulent 1 1
Catecholaminergic Polymorphic Ventricular Tachycardia, 1 7
Catecholaminergic Polymorphic Ventricular Tachycardia, 4 5
Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness 4
Catel-Manzke Syndrome 1
CATSPER-Related Male Infertility 3
Central Core Disease 8
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation 3
Cerebral Amyloid Angiopathy, App-Related 3
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1
Cerebral Cavernous Malformations 1 3
Cerebral Cavernous Malformations 2 3
Cerebral Cavernous Malformations 3 2
Cerebral Creatine Deficiency Syndrome 1 1
Cerebral Folate Deficiency 5
Cerebral Palsy, Spastic Quadriplegic, 1 2
Cerebral Palsy, Spastic Quadriplegic, 2 2
Cerebro-Oculo-Facio-Skeletal Syndrome 1
Cerebroretinal Microangiopathy with Calcifications and Cysts 2
Cerebrotendinous Xanthomatosis 1
Ceroid Lipofuscinosis Neuronal 1 5
Ceroid Lipofuscinosis Neuronal 10 5
Ceroid Lipofuscinosis Neuronal 11 2
Ceroid Lipofuscinosis Neuronal 12 4
Ceroid Lipofuscinosis Neuronal 13 4
Ceroid Lipofuscinosis Neuronal 14 2
Ceroid Lipofuscinosis Neuronal 2 5
Ceroid Lipofuscinosis Neuronal 3 5
Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive 4
Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant 3
Ceroid Lipofuscinosis Neuronal 5 5
Ceroid Lipofuscinosis Neuronal 6 5
Ceroid Lipofuscinosis Neuronal 7 5
Ceroid Lipofuscinosis Neuronal 8 5
Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant 4
Chanarin-Dorfman Syndrome 2
Char Syndrome 1
Charcot-Marie-Tooth Disease Dominant Intermediate 3 4
Charcot-Marie-Tooth Disease Type 2B 5
Charcot-Marie-Tooth Disease Type 2B1 4
Charcot-Marie-Tooth Disease Type 2B2 3
Charcot-Marie-Tooth Disease Type 2C 5
Charcot-Marie-Tooth Disease Type 2D 5
Charcot-Marie-Tooth Disease Type 2E 5
Charcot-Marie-Tooth Disease Type 2F 5
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 2O 5
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive 4
Charcot-Marie-Tooth Disease, Dominant Intermediate B 5
Charcot-Marie-Tooth Disease, Dominant Intermediate C 4
Charcot-Marie-Tooth Disease, Dominant Intermediate E 4
Charcot-Marie-Tooth Disease, Dominant Intermediate F 5
Charcot-Marie-Tooth Disease, Recessive Intermediate A 4
Charcot-Marie-Tooth Disease, Recessive Intermediate B 5
Charcot-Marie-Tooth Disease, Recessive Intermediate C 4
Charcot-Marie-Tooth Disease, Recessive Intermediate D 5
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 6
Charcot-Marie-Tooth Disease, Type 2L 6
Charcot-Marie-Tooth Disease, Type 2N 4
Charcot-Marie-Tooth Disease, Type 2Q 3
Charcot-Marie-Tooth Disease, Type 2R 3
Charcot-Marie-Tooth Disease, Type 2S 3
Charcot-Marie-Tooth Disease, Type 2T 1
Charcot-Marie-Tooth Disease, Type 2U 4
Charcot-Marie-Tooth Disease, Type 3 5
Charcot-Marie-Tooth Disease, Type 4A 4
Charcot-Marie-Tooth Disease, Type 4B1 5
Charcot-Marie-Tooth Disease, Type 4B2 5
Charcot-Marie-Tooth Disease, Type 4B3 5
Charcot-Marie-Tooth Disease, Type 4C 5
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 5
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 3
Charcot-Marie-Tooth Disease, X-linked Dominant, 6 4
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 5
Charcot-Marie-Toothe Disease, Type 2P 3
CHARGE Association 4
Chediak-Higashi Syndrome 2
Cherubism 2
Child Syndrome 2
Childhood Hypophosphatasia 5
Chitayat Syndrome 1
CHMP2B-Related Frontotemporal Dementia 3
Cholestasis, Progressive Familial Intrahepatic 2 3
Cholestasis, Progressive Familial Intrahepatic 3 3
Cholestasis, Progressive Familial Intrahepatic 4 2
Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency 4
Chondrodysplasia Acromesomelic With Genital Anomalies 1
Chondrodysplasia Blomstrand Type 2
Chondrodysplasia Punctata 1, X-Linked Recessive 2
Chondrodysplasia Punctata 2 X-Linked Dominant 2
Chondrodysplasia with Joint Dislocations, Gpapp Type 2
CHOPS Syndrome 4
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 4
Choroid Plexus Papilloma 1
Choroidal Dystrophy, Central Areolar 2 2
Choroideremia 6
Chromosome 9Q Deletion Syndrome 1
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome 2
Chronic Infantile Neurological, Cutaneous And Articular Syndrome 2
Chudley-McCullough syndrome 2
Ciliary Dyskinesia, Primary, 1 7
Ciliary Dyskinesia, Primary, 10 5
Ciliary Dyskinesia, Primary, 11 4
Ciliary Dyskinesia, Primary, 12 4
Ciliary Dyskinesia, Primary, 13 5
Ciliary Dyskinesia, Primary, 14 5
Ciliary Dyskinesia, Primary, 15 5
Ciliary Dyskinesia, Primary, 16 5
Ciliary Dyskinesia, Primary, 17 5
Ciliary Dyskinesia, Primary, 18 5
Ciliary Dyskinesia, Primary, 19 5
Ciliary Dyskinesia, Primary, 2 5
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 2
Ciliary Dyskinesia, Primary, 33 3
Ciliary Dyskinesia, Primary, 34 2
Ciliary Dyskinesia, Primary, 35 3
Ciliary Dyskinesia, Primary, 36 3
Ciliary Dyskinesia, Primary, 37 3
Ciliary Dyskinesia, Primary, 6 5
Ciliary Dyskinesia, Primary, 7 5
Ciliary Dyskinesia, Primary, 9 5
Citrin Deficiency 4
Citrullinemia Type I 3
Citrullinemia Type II 4
CK syndrome 3
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome 2
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
Cleidocranial Dysostosis 2
COACH Syndrome 2
Cockayne Syndrome Type I 2
Cockayne Syndrome, Type B 2
Coenzyme Q10 Deficiency 4
Coenzyme Q10 Deficiency, Primary, 2 2
Coenzyme Q10 deficiency, primary, 3 3
Coenzyme Q10 Deficiency, Primary, 4 2
Coenzyme Q10 Deficiency, Primary, 5 2
Coenzyme Q10 deficiency, primary, 6 3
Coenzyme Q10 Deficiency, Primary, 7 1
Coffin-Lowry Syndrome 1
Coffin-Siris Syndrome 1 3
Coffin-Siris Syndrome 2 2
Coffin-Siris Syndrome 3 2
Coffin-Siris Syndrome 4 2
Coffin-Siris Syndrome 5 2
Cohen Syndrome 3
Cole-Carpenter Syndrome 2 2
Coloboma Of Optic Disc 2
Coloboma, Ocular 2
Colorectal cancer, susceptibility to, 10 2
Colorectal cancer, susceptibility to, 12 2
Combined D-2- and L-2-HydroxyGlutaric Aciduria 2
Combined Malonic And Methylmalonic Aciduria 5
Combined oxidative phosphorylation deficiency 14 2
Combined Oxidative Phosphorylation Deficiency 15 1
Combined Oxidative Phosphorylation Deficiency 22 1
Combined Oxidative Phosphorylation Deficiency 3 1
Combined Oxidative Phosphorylation Deficiency 6 1
Combined Oxidative Phosphorylation Deficiency 7 2
Combined Oxidative Phosphorylation Deficiency 9 1
Combined Saposin Deficiency 1
Common Variable Agammaglobulinemia 1
Cone Dystrophy 3 3
Cone Dystrophy 4 4
Cone-Rod Dystrophy 10 2
Cone-Rod Dystrophy 11 3
Cone-Rod Dystrophy 12 2
Cone-Rod Dystrophy 13 6
Cone-rod dystrophy 14 2
Cone-Rod Dystrophy 15 5
Cone-rod dystrophy 16 5
Cone-Rod Dystrophy 18 1
Cone-Rod Dystrophy 19 1
Cone-Rod Dystrophy 2 5
Cone-Rod Dystrophy 20 1
Cone-Rod Dystrophy 21 1
Cone-Rod Dystrophy 3 4
Cone-Rod Dystrophy 5 5
Cone-Rod Dystrophy 6 5
Cone-Rod Dystrophy 7 3
Cone-Rod Dystrophy 9 3
Cone-Rod Dystrophy X-Linked 3 4
Cone-Rod Dystrophy, X-Linked, 1 2
Congenital Amegakaryocytic Thrombocytopenia 4
Congenital Aniridia 4
Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to 3
Congenital Bilateral Absence Of The Vas Deferens 3
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 3
Congenital Cataracts, Hearing Loss, and Neurodegeneration 1
Congenital Central Hypoventilation syndrome 11
Congenital Contractural Arachnodactyly 6
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay 2
Congenital Cystic Disease Of Liver 4
Congenital Disorder Of Glycosylation Type 1A 2
Congenital Disorder Of Glycosylation Type 1B 2
Congenital Disorder Of Glycosylation Type 1C 2
Congenital Disorder Of Glycosylation Type 1D 2
Congenital Disorder Of Glycosylation Type 1E 5
Congenital Disorder Of Glycosylation Type 1F 2
Congenital Disorder Of Glycosylation Type 1G 2
Congenital Disorder Of Glycosylation Type 1H 2
Congenital Disorder Of Glycosylation Type 1I 3
Congenital Disorder Of Glycosylation Type 1M 2
Congenital Disorder Of Glycosylation Type 1O 4
Congenital Disorder Of Glycosylation Type 2C 1
Congenital Disorder Of Glycosylation Type 2G 1
Congenital Disorder Of Glycosylation, Type IIj 1
Congenital Disorder of Glycosylation, Type IIm 2
Congenital Disorder of Glycosylation, Type It 3
Congenital Disorder of Glycosylation, Type Iu 4
Congenital Fiber Type Disproportion 9
Congenital Generalized Lipodystrophy Type 1 2
Congenital Generalized Lipodystrophy Type 2 2
Congenital Hyperammonemia, Type I 3
Congenital Ichthyosis Of Skin 2
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 5
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B 3
Congenital Myasthenic Syndrome - RAPSN 2
Congenital Myasthenic Syndrome, Acetazolamide-Responsive 3
Congenital Myotonia, Autosomal Dominant Form 1
Congenital Stromal Corneal Dystrophy 1
Conotruncal Heart Malformations 4
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 2
Corneal Dystrophy And Perceptive Deafness 1
Corneal Dystrophy Fuchs Endothelial 1 1
Corneal Dystrophy, Fuchs Endothelial, 4 1
Corneal Dystrophy, Fuchs Endothelial, 6 1
Corneal Dystrophy, Fuchs Endothelial, 8 1
Corneal Dystrophy, Posterior Polymorphous, 2 1
Corneal Endothelial Dystrophy Type 2 2
Corneal Epithelial Dystrophy 2
Corneal Opacification and Other Ocular Anomalies 1
Cornelia de Lange syndrome 1 6
Cornelia de Lange syndrome 2 7
Cornelia de Lange syndrome 3 5
Cornelia de Lange syndrome 4 5
Cornelia de Lange syndrome 5 6
Corpus Callosum, Partial Agenesis Of, X-Linked 1
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Cortical Dysplasia-Focal Epilepsy Syndrome 4
Costello Syndrome 6
Cousin Syndrome 1
Cowchock Syndrome 3
Cowden Disease 6
Cowden syndrome 3 2
Cowden syndrome 5 1
Cowden-Like Syndrome 1
Craniodiaphyseal Dysplasia, Autosomal Dominant 1
Cranioectodermal Dysplasia 3
Cranioectodermal Dysplasia 2 2
Cranioectodermal Dysplasia 4 1
Craniofacial Deafness Hand Syndrome 1
Craniofrontonasal Dysplasia 2
Craniometaphyseal Dysplasia, Autosomal Dominant 1
Craniosynostosis 3 4
Craniosynostosis 4 1
Craniosynostosis And Dental Anomalies 1
Craniosynostosis, Type 1 4
Craniosynostosis, Type 2 1
Crigler-Najjar Syndrome, Type I 1
Crigler-Najjar Syndrome, Type II 1
Crouzon Syndrome 4
Crouzon Syndrome With Acanthosis Nigricans 3
Cushing's Symphalangism 2
Cutaneous Malignant Melanoma 1 2
Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
Cutis Laxa With Osteodystrophy 1
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 1
Cutis Laxa, Autosomal Dominant 1
Cutis Laxa, Autosomal Dominant 2 1
Cutis Laxa, Autosomal Recessive, Type IA 2
Cutis Laxa, Autosomal Recessive, Type IB 2
Cutis Laxa, Autosomal Recessive, Type IIB 1
Cutis Laxa, Autosomal Recessive, Type IIIB 1
Cyclical Neutropenia 2
Cystathioninuria 1
Cystic Fibrosis 6
Cystinosis 2
Cystinosis, Ocular Nonnephropathic 2
Cystinuria 4
Czech Dysplasia Metatarsal Type 3
D-2-Alpha Hydroxyglutaric Aciduria 3
D-2-Hydroxyglutaric Aciduria 2 3
D-Bifunctional Protein Deficiency 1
Danon Disease 8
De Sanctis-Cacchione Syndrome 1
Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) 2
Deafness, Autosomal Dominant 1 2
Deafness, Autosomal Dominant 10 3
Deafness, Autosomal Dominant 12 2
Deafness, Autosomal Dominant 13 2
Deafness, Autosomal Dominant 15 2
Deafness, Autosomal Dominant 17 4
Deafness, Autosomal Dominant 20 1
Deafness, Autosomal Dominant 22 5
Deafness, Autosomal Dominant 25 2
Deafness, Autosomal Dominant 28 2
Deafness, Autosomal Dominant 2A 2
Deafness, Autosomal Dominant 2B 2
Deafness, Autosomal Dominant 36 2
Deafness, Autosomal Dominant 3A 2
Deafness, Autosomal Dominant 3B 2
Deafness, Autosomal Dominant 4 2
Deafness, Autosomal Dominant 40 2
Deafness, Autosomal Dominant 44 2
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 2
Deafness, Autosomal Recessive 10 1
Deafness, Autosomal Recessive 15 2
Deafness, Autosomal Recessive 18 1
Deafness, Autosomal Recessive 1A 4
Deafness, Autosomal Recessive 1B 2
Deafness, Autosomal Recessive 21 2
Deafness, Autosomal Recessive 22 2
Deafness, Autosomal Recessive 24 2
Deafness, Autosomal Recessive 25 2
Deafness, Autosomal Recessive 28 3
Deafness, Autosomal Recessive 29 2
Deafness, Autosomal Recessive 3 2
Deafness, Autosomal Recessive 30 2
Deafness, Autosomal Recessive 31 1
Deafness, Autosomal Recessive 35 2
Deafness, Autosomal Recessive 37 2
Deafness, Autosomal Recessive 39 2
Deafness, Autosomal Recessive 42 2
Deafness, Autosomal Recessive 48 2
Deafness, Autosomal Recessive 49 2
Deafness, Autosomal Recessive 53 1
Deafness, Autosomal Recessive 59 2
Deafness, Autosomal Recessive 6 2
Deafness, Autosomal Recessive 61 2
Deafness, Autosomal Recessive 63 2
Deafness, Autosomal Recessive 67 2
Deafness, Autosomal Recessive 7 2
Deafness, Autosomal Recessive 74 2
Deafness, Autosomal Recessive 77 2
Deafness, Autosomal Recessive 79 1
Deafness, Autosomal Recessive 8/10 2
Deafness, Autosomal Recessive 9 2
Deafness, Autosomal Recessive 91 2
Deafness, X-Linked 1 2
Deafness, X-Linked 2 1
Deafness, X-Linked 4 2
Deafness, X-Linked 5 1
Deafness, X-linked 6 3
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase 3
Deficiency Of Alpha-Mannosidase 1
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase 1
Deficiency Of Butyryl-CoA Dehydrogenase 4
Deficiency Of Galactokinase 2
Deficiency Of Guanidinoacetate Methyltransferase 2
Deficiency Of Steroid 17-Alpha-Monooxygenase 4
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency 1
Dent Disease 1 3
Dent Disease 2 3
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
Desbuquois Dysplasia 2 1
Desbuquois Syndrome 1
Desmosterolosis 1
Diabetes Insipidus, Nephrogenic, Autosomal 2
Diabetes Insipidus, Nephrogenic, X-Linked 2
Diabetes Insipidus, Neurohypophyseal 2
Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness 4
Diabetes Mellitus Type 1 1
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism 2
Diabetes Mellitus, Noninsulin-Dependent 2
Diamond-Blackfan Anemia 1 1
Diamond-Blackfan Anemia 4 1
Diamond-Blackfan Anemia 7 1
Diaphanospondylodysostosis 2
Diaphragmatic Hernia 3 1
Diarrhea 5, With Tufting Enteropathy, Congenital 1
Dias-Logan Syndrome 2
Diastrophic Dysplasia 4
Digital Clubbing, Isolated Congenital 1
Dihydrolipoamide dehydrogenase deficiency 3
Dihydropteridine Reductase Deficiency 2
Dihydropyrimidinase Deficiency 1
Dihydropyrimidine Dehydrogenase Deficiency 1
Dilated Cardiomyopathy 1A 6
Dilated Cardiomyopathy 1Aa 6
Dilated Cardiomyopathy 1BB 1
Dilated Cardiomyopathy 1C 6
Dilated Cardiomyopathy 1CC 6
Dilated Cardiomyopathy 1D 4
Dilated Cardiomyopathy 1DD 4
Dilated Cardiomyopathy 1E 2
Dilated Cardiomyopathy 1Ee 4
Dilated Cardiomyopathy 1FF 3
Dilated Cardiomyopathy 1I 4
Dilated Cardiomyopathy 1J 3
Dilated Cardiomyopathy 1L 4
Dilated Cardiomyopathy 1M 1
Dilated Cardiomyopathy 1N 5
Dilated Cardiomyopathy 1O 1
Dilated Cardiomyopathy 1P 5
Dilated Cardiomyopathy 1R 5
Dilated Cardiomyopathy 1S 7
Dilated Cardiomyopathy 1W 3
Dilated Cardiomyopathy 1X 4
Dilated Cardiomyopathy 1Y 6
Dilated Cardiomyopathy 1Z 1
Dilated Cardiomyopathy 2A 7
Dimethylglycine Dehydrogenase Deficiency 1
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency 1
Distal Hereditary Motor Neuronopathy Type 2A 3
Distal Hereditary Motor Neuronopathy Type 2B 3
Distal Hereditary Motor Neuronopathy Type 5 4
Distal Myopathy Markesbery-Griggs Type 4
Distichiasis-Lymphedema Syndrome 2
Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin 1
Dominant Hereditary Optic Atrophy 4
DOOR syndrome 2
Doyne Honeycomb Retinal Dystrophy 4
Drash Syndrome 2
Duane Syndrome Type 2 2
Duane-Radial Ray Syndrome 4
Dubin-Johnson Syndrome 1
Duchenne Muscular Dystrophy 3
Dyggve-Melchior-Clausen Syndrome 1
Dyserythropoietic Anemia, Congenital, Type Ia 2
Dyserythropoietic Anemia, Congenital, Type Ib 2
Dyserythropoietic Anemia, Congenital, Type II 2
Dyserythropoietic Anemia, Congenital, Type IV 2
Dyskeratosis Congenita Autosomal Dominant 3
Dyskeratosis Congenita Autosomal Recessive 2
Dyskeratosis Congenita X-Linked 4
Dyskeratosis Congenita, Autosomal Dominant 4 1
Dyskeratosis Congenita, Autosomal Dominant, 2 4
Dyskeratosis Congenita, Autosomal Dominant, 3 3
Dyskeratosis Congenita, Autosomal Recessive 6 1
Dyskeratosis Congenita, Autosomal Recessive, 2 2
Dyskeratosis Congenita, Autosomal Recessive, 3 2
Dyskinesia, Seizures, and Intellectual Developmental Disorder 1
Dyssegmental Dysplasia Silverman-Handmaker Type 1
Dystonia 1 2
Dystonia 12 1
Dystonia 16 1
Dystonia 24 2
Dystonia 25 2
Dystonia 3, Torsion, X-Linked 2
Dystonia 4, Torsion 1
Dystonia 5, Dopa-Responsive Type 3
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, Ectrodactyly, and Macular Dystrophy 1
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 3
Ectodermal Dysplasia/Short Stature Syndrome 1
Ectopia lentis et pupillae 1
Ectopia Lentis, Isolated Autosomal Recessive 1
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 2
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, Autosomal Recessive, Cardiac Valvular Form 4
Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 4
Ehlers-Danlos Syndrome, Musculocontractural Type 3
Ehlers-Danlos Syndrome, Progeroid Type, 2 2
Ehlers-Danlos Syndrome, Type 1 9
Ehlers-Danlos Syndrome, Type 2 3
Ehlers-Danlos Syndrome, Type 3 3
Ehlers-Danlos Syndrome, Type 4 6
Ehlers-Danlos Syndrome, Type VIIA and VIIB 5
Ehlers-Danlos Syndrome, Type VIIC 2
Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency 3
Elliptocytosis 1 1
Elliptocytosis 2 2
Elliptocytosis 3 2
Ellis-van Creveld Syndrome 5
Emery-Dreifuss Muscular Dystrophy 1, X-Linked 6
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 2
Emery-Dreifuss Muscular Dystrophy 7, AD 1
Emery-Dreifuss muscular dystrophy-6 4
Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To 1
Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission 2
Endometrial Cancer 2
Endplate Acetylcholinesterase Deficiency 3
Enhanced S-Cone Syndrome 1
Enlarged Vestibular Aqueduct Syndrome 3
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 4
Epidermolysis Bullosa Simplex, Koebner Type 3
Epidermolysis Bullosa Simplex, Ogna Type 3
Epidermolysis Bullosa With Pyloric Atresia 4
Epidermolysis Bullosa, Lethal Acantholytic 2
Epidermolysis Bullosa, Pretibial 1
Epilepsy, Childhood Absence 5 2
Epilepsy, familial focal, with variable foci 3
Epilepsy, Familial Focal, with Variable Foci 2 2
Epilepsy, Familial Temporal Lobe, 7 2
Epilepsy, focal, with speech disorder and with or without mental retardation 3
Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 1
Epilepsy, Juvenile Myoclonic 5 2
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant 3
Epilepsy, nocturnal frontal lobe, 5 1
Epilepsy, Nocturnal Frontal Lobe, Type 1 3
Epilepsy, Nocturnal Frontal Lobe, Type 3 3
Epilepsy, Nocturnal Frontal Lobe, Type 4 2
Epilepsy, Progressive Myoclonic 3 3
Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure 4
Epilepsy, Progressive Myoclonic 6 3
Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders 2
Epileptic encephalopathy, childhood-onset 4
Epileptic encephalopathy, early infantile, 1 4
Epileptic Encephalopathy, Early Infantile, 10 4
Epileptic Encephalopathy, Early Infantile, 11 5
Epileptic Encephalopathy, Early Infantile, 12 3
Epileptic Encephalopathy, Early Infantile, 13 4
Epileptic encephalopathy, early infantile, 14 4
Epileptic Encephalopathy, Early Infantile, 15 3
Epileptic Encephalopathy, Early Infantile, 16 4
Epileptic Encephalopathy, Early Infantile, 17 3
Epileptic encephalopathy, early infantile, 18 3
Epileptic Encephalopathy, Early Infantile, 2 6
Epileptic Encephalopathy, Early Infantile, 24 3
Epileptic Encephalopathy, Early Infantile, 25 2
Epileptic Encephalopathy, Early Infantile, 26 2
Epileptic Encephalopathy, Early Infantile, 3 4
Epileptic Encephalopathy, Early Infantile, 32 3
Epileptic Encephalopathy, Early Infantile, 36 1
Epileptic Encephalopathy, Early Infantile, 4 5
Epileptic Encephalopathy, Early Infantile, 5 4
Epileptic Encephalopathy, Early Infantile, 7 4
Epileptic Encephalopathy, Early Infantile, 8 5
Epileptic Encephalopathy, Early Infantile, 9 4
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness 2
Episodic Ataxia Type 1 2
Episodic Kinesigenic Dyskinesia 1 1
Episodic Pain Syndrome, Familial, 2 2
Episodic Pain Syndrome, Familial, 3 3
Epstein Syndrome 5
Erythrocytosis, Familial, 2 1
Erythroderma, Ichthyosiform, Congenital Reticular 1
Erythrokeratodermia Variabilis Et Progressiva 1
Erythropoietic Protoporphyria 3
Escobar Syndrome 4
Essential Hypertension 1
Essential Thrombocythemia 1
Ethylmalonic Encephalopathy 1
Exostoses, Multiple, Type I 3
Exostoses, Multiple, Type II 3
Exudative Vitreoretinopathy 2, X-Linked 3
Exudative Vitreoretinopathy 4 2
Exudative Vitreoretinopathy 5 3
Exudative Vitreoretinopathy 6 2
Fabry's Disease 4
Facial Paresis, Hereditary Congenital, 3 1
Facioscapulohumeral Muscular Dystrophy 2 4
Factor V And Factor VIII, Combined Deficiency Of, 1 3
Factor V And Factor VIII, Combined Deficiency Of, 2 3
Factor V Deficiency 3
Factor VII Deficiency 3
Factor X Deficiency 3
Factor XII Deficiency Disease 2
Factor XIII, A Subunit, Deficiency Of 3
Factor XIII, B Subunit, Deficiency Of 3
Fallot Tetralogy 7
Familial Amyloid Nephropathy With Urticaria And Deafness 2
Familial Benign Hypercalcemia 2
Familial Cancer Of Breast 10
Familial Cold Autoinflammatory Syndrome 2 2
Familial Cold Urticaria 1
Familial Colorectal Cancer 2
Familial digital arthropathy with brachydactyly 1
Familial Dysautonomia 4
Familial Erythrocytosis, 1 1
Familial Exudative Vitreoretinopathy 3
Familial Gynecomastia, Due To Increased Aromatase Activity 4
Familial Hemiplegic Migraine Type 1 2
Familial Hemiplegic Migraine Type 2 2
Familial Hemiplegic Migraine Type 3 1
Familial Hypercholesterolemia 3
Familial Hypertrophic Cardiomyopathy 1 8
Familial Hypertrophic Cardiomyopathy 10 5
Familial Hypertrophic Cardiomyopathy 11 2
Familial Hypertrophic Cardiomyopathy 12 6
Familial Hypertrophic Cardiomyopathy 13 6
Familial Hypertrophic Cardiomyopathy 14 7
Familial Hypertrophic Cardiomyopathy 15 4
Familial Hypertrophic Cardiomyopathy 16 3
Familial Hypertrophic Cardiomyopathy 18 5
Familial Hypertrophic Cardiomyopathy 2 4
Familial Hypertrophic Cardiomyopathy 20 3
Familial Hypertrophic Cardiomyopathy 3 3
Familial Hypertrophic Cardiomyopathy 4 5
Familial Hypertrophic Cardiomyopathy 6 5
Familial Hypertrophic Cardiomyopathy 7 6
Familial Hypertrophic Cardiomyopathy 8 5
Familial Hypertrophic Cardiomyopathy 9 4
Familial Hypoalphalipoproteinemia 1
Familial Hypobetalipoproteinemia 1
Familial Hypokalemia-Hypomagnesemia 2
Familial Infantile Myasthenia 3
Familial Juvenile Hyperuricemic Nephropathy 2
Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates 3
Familial Mediterranean Fever 2
Familial Mediterranean Fever, Autosomal Dominant 2
Familial Medullary Thyroid Carcinoma 2
Familial Porphyria Cutanea Tarda 3
Familial Renal Hypouricemia 1
Familial Type 5 Hyperlipoproteinemia 1
Familial Visceral Amyloidosis, Ostertag Type 1
Fanconi Anemia, Complementation Group A 2
Fanconi Anemia, Complementation Group B 2
Fanconi Anemia, Complementation Group C 2
Fanconi Anemia, Complementation Group D1 2
Fanconi Anemia, Complementation Group D2 2
Fanconi Anemia, Complementation Group E 2
Fanconi Anemia, Complementation Group F 2
Fanconi Anemia, Complementation Group G 2
Fanconi Anemia, Complementation Group I 2
Fanconi Anemia, Complementation Group J 3
Fanconi Anemia, Complementation Group L 2
Fanconi Anemia, Complementation Group M 2
Fanconi Anemia, Complementation Group N 3
Fanconi Anemia, Complementation Group O 3
Fanconi Anemia, Complementation Group P 2
Fanconi anemia, Complementation Group Q 1
Fanconi Anemia, Complementation Group R 1
Fanconi Anemia, Complementation Group T 1
Fanconi-Bickel Syndrome 3
Farber's Lipogranulomatosis 1
Fasting Plasma Glucose Level Quantitative Trait Locus 5 1
Fazio-Londe Disease 1
Fechtner Syndrome 5
Feingold Syndrome 1 1
Fetal Akinesia Deformation Sequence 6
Fetal Hemoglobin Quantitative Trait Locus 6 1
Fg Syndrome 2
FG Syndrome 2 2
Fibrochondrogenesis 3
Fibrochondrogenesis 2 2
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 1
Finnish Congenital Nephrotic Syndrome 2
Fish-Eye Disease 1
Fleck Corneal Dystrophy 1
Fleck Retina, Familial Benign 4
Floating-Harbor Syndrome 5
Focal Dermal Hypoplasia 1
Focal Segmental Glomerulosclerosis 1 2
Focal Segmental Glomerulosclerosis 2 2
Focal Segmental Glomerulosclerosis 3, Susceptibility To 2
Focal Segmental Glomerulosclerosis 5 1
Focal Segmental Glomerulosclerosis 6 1
Focal Segmental Glomerulosclerosis 8 2
Focal Segmental Glomerulosclerosis 9 1
Folate Malabsorption, Hereditary 3
Follicle-Stimulating Hormone Deficiency, Isolated 5
Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis 1
Foveal Hypoplasia And Presenile Cataract Syndrome 3
Fragile X Syndrome 3
Fragile X Tremor/Ataxia Syndrome 1
Frank Ter Haar Syndrome 2
Fraser Syndrome 2
Frasier Syndrome 2
Freeman-Sheldon Syndrome 3
Frontometaphyseal Dysplasia 3
Frontonasal Dysplasia 2
Frontonasal Dysplasia 2 1
Frontonasal Dysplasia 3 1
Frontotemporal Dementia 5
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 4
Frontotemporal Dementia, Ubiquitin-Positive 3
Fructose-Biphosphatase Deficiency 2
Fuhrmann Syndrome 1
Fukuyama Congenital Muscular Dystrophy 6
Fumarase Deficiency 1
Galactosemia 5
Galactosialidosis 3
Galactosylceramide Beta-Galactosidase Deficiency 2
Galloway-Mowat Syndrome 2
Ganglioside Sialidase Deficiency 1
Gangliosidosis GM1 Type 3 1
GAPO 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 1
Gaucher Disease, Type II 1
Gaucher Disease, Type III 1
Gaucher Disease, Type IIIc 1
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Geleophysic Dysplasia 1
Generalized Dominant Dystrophic Epidermolysis Bullosa 1
Generalized Epilepsy With Febrile Seizures Plus, Type 1 4
Generalized Epilepsy With Febrile Seizures Plus, Type 2 2
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 2
Genitopatellar Syndrome 4
Geroderma Osteodysplasticum 2
Ghosal Syndrome 1
Giant Axonal Neuropathy 3
Glanzmann's Thrombasthenia 6
Glaucoma 1, Open Angle, G 1
Glaucoma 3, Primary Congenital, D 2
Glaucoma, Congenital 2
Glaucoma, Normal Tension, Susceptibility To 1
Glioma Susceptibility 1 1
Glioma Susceptibility 2 1
Glioma Susceptibility 3 1
Glomerulopathy With Fibronectin Deposits 2 1
Glomerulosclerosis, Focal Segmental, 7 2
Glut1 Deficiency Syndrome 1 4
Glut1 Deficiency Syndrome 2 1
Glutaric Aciduria, Type 1 2
Glutaric Aciduria, Type 2 9
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To 1
Gluthathione Synthetase Deficiency 1
Glycine Encephalopathy 4
Glycine N-Methyltransferase Deficiency 3
Glycogen Storage Disease 0, Liver 3
Glycogen Storage Disease 0, Muscle 2
Glycogen Storage Disease Of Heart, Lethal Congenital 4
Glycogen Storage Disease Type Ia 3
Glycogen Storage Disease Type Ib 3
Glycogen Storage Disease Type Ic 3
Glycogen Storage Disease Type II 10
Glycogen Storage Disease Type III 5
Glycogen Storage Disease Type IV 4
Glycogen Storage Disease Type IXa1 3
Glycogen Storage Disease Type IXc 3
Glycogen Storage Disease Type IXd 3
Glycogen Storage Disease Type V 6
Glycogen Storage Disease Type VI 3
Glycogen Storage Disease Type VII 4
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 3
Gnathodiaphyseal Dysplasia 2
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors 2
Goldberg-Shprintzen Megacolon Syndrome 1
Gonadotropin-Independent Familial Sexual Precocity 5
Gorlin Syndrome 1
Gout, HPRT-Related 1
Gracile Bone Dysplasia 3
GRACILE Syndrome 3
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative 2
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II 2
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III 2
Granulomatous Disease, Chronic, X-Linked 2
Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial 2
Gray Platelet Syndrome 3
Grebe Syndrome 2
Greenberg Dysplasia 2
Greig Cephalopolysyndactyly Syndrome 3
Griscelli Syndrome Type 1 2
Griscelli Syndrome Type 2 3
Groenouw Corneal Dystrophy Type I 2
Growth Hormone Deficiency, Isolated Partial 1
Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 1
Gtp Cyclohydrolase I Deficiency 1
Gyrate Atrophy of Choroid and Retina with or without Ornithinemia 4
Hajdu-Cheney Syndrome 2
Hand Foot Uterus Syndrome 2
Harlequin Ichthyosis 2
Hartsfield syndrome 4
Hawkinsinuria 1
Hay-Wells Syndrome 2
Helsmoortel-van der Aa Syndrome 2
Hemochromatosis Type 1 7
Hemochromatosis Type 2 2
Hemochromatosis Type 2B 2
Hemochromatosis Type 3 2
Hemochromatosis Type 4 2
Hemochromatosis Type 5 1
Hemolytic anemia due to G6PD deficiency 1
Hemolytic Anemia due to Triosephosphate Isomerase Deficiency 1
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency 1
Hemophagocytic Lymphohistiocytosis, Familial, 2 2
Hemophagocytic Lymphohistiocytosis, Familial, 3 2
Hemophagocytic Lymphohistiocytosis, Familial, 4 2
Hemophagocytic lymphohistiocytosis, Familial, 5 2
Hemophilia A, Congenital 3
Hennekam Syndrome 2
Hereditary Angioneurotic Edema 1
Hereditary Coproporphyria 4
Hereditary Diffuse Gastric Cancer 3
Hereditary Factor IX Deficiency Disease 3
Hereditary Factor XI Deficiency Disease 3
Hereditary Fructose Intolerance 5
Hereditary Hemorrhagic Telangiectasia Type 2 2
Hereditary Insensitivity To Pain With Anhidrosis 3
Hereditary Leiomyomatosis And Renal Cell Cancer 3
Hereditary Liability To Pressure Palsies 1
Hereditary Lymphedema Type 1C 2
Hereditary Lymphedema Type I 2
Hereditary Mixed Polyposis Syndrome 2 2
Hereditary Myopathy With Early Respiratory Failure 2
Hereditary Neutrophilia 2
Hereditary Nonpolyposis Colorectal Cancer Type 4 7
Hereditary Nonpolyposis Colorectal Cancer Type 5 7
Hereditary Nonpolyposis Colorectal Cancer Type 7 1
Hereditary Nonpolyposis Colorectal Cancer Type 8 5
Hereditary Pyropoikilocytosis 1
Hereditary Sideroblastic Anemia 1
Hereditary Spherocytosis 2
Hermansky Pudlak Syndrome 2 4
Hermansky-Pudlak Syndrome 1 5
Hermansky-Pudlak Syndrome 3 5
Hermansky-Pudlak Syndrome 4 5
Hermansky-Pudlak Syndrome 5 4
Hermansky-Pudlak Syndrome 6 5
Hermansky-Pudlak Syndrome 7 4
Hermansky-Pudlak Syndrome 8 4
Hermansky-Pudlak Syndrome 9 2
Heterotaxy, Visceral, 2, Autosomal 1
Heterotaxy, Visceral, 4, Autosomal 3
Heterotaxy, Visceral, 5 4
Heterotaxy, visceral, 6, autosomal recessive 1
Heterotaxy, Visceral, 7, Autosomal 1
Heterotaxy, Visceral, X-Linked 3
Heterotopia, Periventricular, Autosomal Recessive 3
Heterotopia, Periventricular, Ehlers-Danlos Variant 1
Hidrotic Ectodermal Dysplasia Syndrome 2
Hirschsprung Disease 1 4
Hirschsprung Disease 2 4
Hirschsprung Disease 3 2
Hirschsprung Disease 4 5
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction 2
Holoprosencephaly 11 2
Holoprosencephaly 2 2
Holoprosencephaly 3 2
Holoprosencephaly 4 2
Holoprosencephaly 5 2
Holoprosencephaly 7 3
Holoprosencephaly 9 2
Holoprosencephaly Sequence 2
Holt-Oram Syndrome 3
Homocystinuria Due To Cbs Deficiency 5
Homocystinuria due to MTHFR Deficiency 4
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblE Complementation Type 3
Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type 3
Hoyeraal Hreidarsson Syndrome 1
Huntington Disease 1
Hurler Syndrome 1
Hutchinson-Gilford Syndrome 2
Hyaline Fibromatosis Syndrome 1
Hydrolethalus Syndrome 2 1
Hyperaldosteronism, Familial, Type III 1
Hyperaldosteronism, Familial, Type IV 2
Hyperalphalipoproteinemia 1
Hyperammonemia, Type III 3
Hypercalciuria, Absorptive, 2 2
Hypercholanemia, Familial 1
Hypercholesterolemia, Autosomal Dominant, 3 2
Hypercholesterolemia, Autosomal Dominant, Type B 2
Hypercholesterolemia, Autosomal Recessive 2
Hyperferritinemia Cataract Syndrome 1
Hyperimmunoglobulin D With Periodic Fever 2
Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive 2
Hyperimmunoglobulin E Syndrome 3
Hyperinsulinemic Hypoglycemia, Familial 3 2
Hyperinsulinemic Hypoglycemia, Familial 6 3
Hyperinsulinemic Hypoglycemia, Familial, 1 3
Hyperinsulinemic Hypoglycemia, Familial, 2 3
Hyperinsulinemic Hypoglycemia, Familial, 4 2
Hyperinsulinemic Hypoglycemia, Familial, 7 1
Hyperkalemic Periodic Paralysis; HYPP 3
Hyperlipidemia, Familial Combined 1
Hyperlipoproteinemia, Type 1D 1
Hyperlipoproteinemia, Type I 2
Hyperlipoproteinemia, Type III 1
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency 3
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 2
Hyperparathyroidism 1 1
Hyperparathyroidism 2 1
Hyperparathyroidism, Neonatal Severe Primary 1
Hyperphenylalaninemia, Mild, Non-BH4-Deficient 1
Hyperphosphatasemia Tarda 1
Hyperphosphatasemia With Bone Disease 2
Hyperphosphatasia With Mental Retardation 1
Hyperphosphatasia with mental retardation syndrome 2 3
Hyperpigmentation with or without Hypopigmentation 1
Hyperprolactinemia 2
Hypertension and Brachydactyly Syndrome 1
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 1
Hyperthyroidism, Familial Gestational 2
Hyperthyroidism, Nonautoimmune 2
Hypertrichotic Osteochondrodysplasia 2
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 1
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis 2
Hypobetalipoproteinemia 1
Hypocalcemia, autosomal dominant 4
Hypocalcemia, autosomal dominant 2 2
Hypocalciuric Hypercalcemia, Familial, Type III 3
Hypocalciuric hypercalcemia, type II 2
Hypochondroplasia 5
Hypogonadotropic Hypogonadism 10 with or without Anosmia 5
Hypogonadotropic Hypogonadism 11 with or without Anosmia 6
Hypogonadotropic Hypogonadism 12 with or without Anosmia 5
Hypogonadotropic Hypogonadism 13 with or without Anosmia 5
Hypogonadotropic Hypogonadism 14 with or without Anosmia 4
Hypogonadotropic Hypogonadism 15 with or without Anosmia 4
Hypogonadotropic Hypogonadism 16 with or without Anosmia 4
Hypogonadotropic Hypogonadism 18 with or without Anosmia 1
Hypogonadotropic Hypogonadism 7 with or without Anosmia 6
Hypogonadotropic Hypogonadism 8 with or without Anosmia 5
Hypogonadotropic Hypogonadism 9 with or without Anosmia 4
Hypohidrotic X-Linked Ectodermal Dysplasia 3
Hypokalemic Periodic Paralysis 1
Hypokalemic Periodic Paralysis, Type 2 2
Hypomagnesemia 1, Intestinal 1
Hypomagnesemia 2, Renal 2
Hypomagnesemia 4, Renal 1
Hypomagnesemia 5, Renal, With Ocular Involvement 3
Hypomagnesemia 6, Renal 1
Hypomyelination And Congenital Cataract 2
Hypoparathyroidism Retardation Dysmorphism Syndrome 3
Hypoparathyroidism, Familial Isolated 3
Hypophosphatemic Rickets, Autosomal Dominant 3
Hypophosphatemic Rickets, Autosomal Recessive, 2 1
Hypophosphatemic Rickets, X-Linked Dominant 4
Hypophosphatemic Vitamin D Refractory Rickets 3
Hypoplastic Left Heart Syndrome 2 3
Hypoplastic or Aplastic Tibia with Polydactyly 1
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 1
Hypospadias 2, X-Linked 4
Hypothryoidism, Congenital, Nongoitrous 4 2
Hypothyroidism, Central, and Testicular Enlargement 2
Hypothyroidism, Congenital, Due To Thyroid Dysgenesis 2
Hypothyroidism, congenital, nongoitrous, 1 2
Hypothyroidism, Congenital, Nongoitrous, 5 3
Hypothyroidism, Congenital, Nongoitrous, 6 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 1
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 2
Ichthyosis, Congenital, Autosomal Recessive 8 1
Ichthyosis, Congenital, Autosomal Recessive 9 1
Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related 2
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 2
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 1
Immunodeficiency 13 3
Immunodeficiency 14 2
Immunodeficiency 23 1
Immunodeficiency With Hyper Igm Type 1 1
Immunodeficiency With Hyper IgM Type 2 1
Immunodeficiency, Common Variable, 8, with Autoimmunity 1
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia 1
Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked 1
Immunoglobulin A Deficiency 2 1
Inclusion Body Myopathy 2 1
Inclusion Body Myopathy 3 2
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
Indifference To Pain, Congenital, Autosomal Recessive 3
Infantile cerebellar-retinal degeneration 3
Infantile Gm1 Gangliosidosis 3
Infantile Hypophosphatasia 4
Infantile Nephronophthisis 4
Infantile Neuroaxonal Dystrophy 2
Infantile Parkinsonism-Dystonia 1
Infantile-Onset Ascending Hereditary Spastic Paralysis 1
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations 1
Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA 3
Inflammatory Bowel Disease 1 2
Interleukin 36 Receptor Antagonist Deficiency 2
Interstitial Lung and Liver Disease 1
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 3
Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked 2
Intrinsic Factor Deficiency 1
IRAK4 Deficiency 1
Iridogoniodysgenesis Type1 3
Iridogoniodysgenesis, Dominant Type 3
Isolated X-Linked Adrenal Hypoplasia Congenita 5
Isovaleryl-CoA Dehydrogenase Deficiency 3
Ivic Syndrome 2
Jackson-Weiss Syndrome 5
Jalili Syndrome 4
Jensen Syndrome 2
Jervell And Lange-Nielsen Syndrome 2 2
Jervell And Lange-Nielson Syndrome 2
Johanson-Blizzard Syndrome 2
Joubert Syndrome 4
Joubert Syndrome 1 3
Joubert Syndrome 10 3
Joubert Syndrome 13 2
Joubert syndrome 14 4
Joubert syndrome 15 1
Joubert syndrome 16 4
Joubert syndrome 18 4
Joubert syndrome 19 2
Joubert Syndrome 2 4
Joubert syndrome 20 2
Joubert Syndrome 21 3
Joubert Syndrome 22 3
Joubert Syndrome 24 1
Joubert Syndrome 27 1
Joubert Syndrome 28 1
Joubert Syndrome 3 4
Joubert Syndrome 4 4
Joubert Syndrome 5 7
Joubert Syndrome 6 4
Joubert Syndrome 7 4
Joubert Syndrome 8 4
Joubert Syndrome 9 4
Junctional Epidermolysis Bullosa 5
Juvenile Amyotrophic Lateral Sclerosis 1
Juvenile GM1 Gangliosidosis 1
Juvenile Macular Degeneration And Hypotrichosis 2
Juvenile Nephropathic Cystinosis 2
Juvenile Polyposis Syndrome 2
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome 5
Juvenile Primary Lateral Sclerosis 1
Kabuki Syndrome 1 2
Kabuki Syndrome 2 2
Kallmann Syndrome 1 8
Kallmann Syndrome 2 7
Kallmann Syndrome 3 6
Kallmann Syndrome 4 7
Kallmann Syndrome 5 6
Kallmann Syndrome 6 6
Karyomegalic Tubulointerstitial Nephritis 1
KBG Syndrome 4
Kenny-Caffey Syndrome Type 1 3
Kenny-Caffey Syndrome Type 2 5
Keratitis, Hereditary 1
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 2
Keratoconus 1 2
Keratoderma Palmoplantar Deafness 1
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma 2
Keratosis Palmoplantaris Striata II 1
Keutel Syndrome 1
Kindler's Syndrome 2
Klein-Waardenberg's Syndrome 1
Klippel-Feil Syndrome 1, Autosomal Dominant 2
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 2
Kniest Dysplasia 3
Knobloch Syndrome 1 1
Knuckle Pads, Deafness And Leukonychia Syndrome 1
Kohlschutter-Tonz syndrome 4
Krabbe Disease Atypical Due To Saposin A Deficiency 1
L-2-Hydroxyglutaric Aciduria 3
Lacrimoauriculodentodigital Syndrome 5
Lafora Disease 4
Langer Mesomelic Dysplasia Syndrome 2
Laron-Type Isolated Somatotropin Defect 1
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
Leber Congenital Amaurosis 1 5
Leber Congenital Amaurosis 10 5
Leber Congenital Amaurosis 11 2
Leber Congenital Amaurosis 12 4
Leber Congenital Amaurosis 13 6
Leber Congenital Amaurosis 14 6
Leber Congenital Amaurosis 15 2
Leber Congenital Amaurosis 16 1
Leber Congenital Amaurosis 17 1
Leber Congenital Amaurosis 2 2
Leber Congenital Amaurosis 3 4
Leber Congenital Amaurosis 4 6
Leber Congenital Amaurosis 5 4
Leber Congenital Amaurosis 6 5
Leber Congenital Amaurosis 7 4
Leber Congenital Amaurosis 8 2
Leber Congenital Amaurosis 9 1
Left Ventricular Noncompaction 1 4
Left ventricular noncompaction 10 6
Left Ventricular Noncompaction 7 2
Left Ventricular Noncompaction 8 3
Legg-Calve-Perthes Disease 3
Legius Syndrome 2
Leigh Syndrome 13
Leigh Syndrome, French Canadian Type 2
Lenz Microphthalmia Syndrome 1
Lenz-Majewski Hyperostotic Dwarfism 1
LEOPARD Syndrome 3
LEOPARD Syndrome 2 3
LEOPARD Syndrome 3 2
Leri Weill Dyschondrosteosis 2
Lesch-Lyhan Syndrome 3
Lethal Arthrogryposis With Anterior Horn Cell Disease 4
Lethal Congenital Contracture Syndrome 1 5
Lethal Congenital Contracture Syndrome 5 1
Lethal Multiple Pterygium Syndrome 7
Leukocyte Adhesion Deficiency, Type III 1
Leukodystrophy, Hypomyelinating, 2 1
Leukodystrophy, Hypomyelinating, 4 1
Leukoencephalopathy With Vanishing White Matter 8
Leydig Cell Hypoplasia, Type I 1
Li-Fraumeni Syndrome 8
Li-Fraumeni Syndrome 2 2
Liddle Syndrome 2
Liebenberg Syndrome 1
Lig4 Syndrome 1
Limb-Girdle Muscular Dystrophy, Type 1A 5
Limb-Girdle Muscular Dystrophy, Type 1B 4
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 4
Limb-Mammary Syndrome 2
Lipase Deficiency Combined 1
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 2
Lipodystrophy, Congenital Generalized, Type 3 2
Lipodystrophy, Congenital Generalized, Type 4 3
Lipodystrophy, Familial Partial, Type 2 1
Lipodystrophy, Familial Partial, Type 3 1
Lissencephaly 1 1
Lissencephaly 2 1
Lissencephaly 3 1
Liver Failure Acute Infantile 1
Loeys-Dietz Syndrome 2 8
Loeys-Dietz Syndrome 3 5
Loeys-Dietz Syndrome 4 5
Loeys-Dietz Syndrome I 5
Loeys-Dietz Syndrome Type 2A 2
Loeys-Dietz Syndrome Type 2B 2
Long QT Syndrome 1 7
Long QT Syndrome 10 5
Long QT Syndrome 11 5
Long QT Syndrome 12 5
Long QT Syndrome 13 4
Long QT Syndrome 14 5
Long QT Syndrome 15 3
Long QT Syndrome 2 7
Long QT Syndrome 3 7
Long QT Syndrome 4 5
Long QT Syndrome 5 5
Long QT Syndrome 6 5
Long QT Syndrome 9 7
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 5
Lowe Syndrome 3
Lujan-Fryns Syndrome 4
Lung Cancer 2
Lymphedema, Hereditary, III 1
Lymphedema, Primary, With Myelodysplasia 3
Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 1
Lymphoproliferative Syndrome, X-Linked, 1 3
Lymphoproliferative Syndrome, X-Linked, 2 3
Lynch Syndrome I 7
Lynch Syndrome II 6
Lysinuric Protein Intolerance 2
Lysosomal Acid Lipase Deficiency 3
Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis 2
Macrocephaly/Autism Syndrome 1
Macrothrombocytopenia And Progressive Sensorineural Deafness 2
Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related 2
Macular Corneal Dystrophy Type I 2
Macular Degeneration, Age-Related, 2 1
Macular Degeneration, X-Linked Atrophic 3
Macular Dystrophy with Central Cone Involvement 1
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 1
Macular Dystrophy, Retinal, 2 1
Macular Dystrophy, Vitelliform, 4 1
Macular Dystrophy, Vitelliform, Adult-Onset 3
Majeed Syndrome 2
Malignant Hyperthermia 4
Malignant Hyperthermia Susceptibility Type 5 2
Malignant Mesothelioma 2
Malonyl-CoA Decarboxylase Deficiency 6
Mandibuloacral Dysplasia With Type B Lipodystrophy 2
Mandibulofacial dysostosis, Guion-Almeida type 4
Manitoba Oculotrichoanal Syndrome 3
Maple Syrup Urine Disease 5
Marden-Walker Syndrome 1
Marfan Syndrome 6
Marinesco-Sjogren Syndrome 4
Marshall Syndrome 3
Martsolf Syndrome 1
Mast Syndrome 3
Maturity-Onset Diabetes Of The Young, Type 1 4
Maturity-Onset Diabetes Of The Young, Type 10 2
Maturity-Onset Diabetes Of The Young, Type 11 2
Maturity-Onset Diabetes Of The Young, Type 2 2
Maturity-Onset Diabetes Of The Young, Type 3 3
Maturity-Onset Diabetes Of The Young, Type 4 2
Maturity-Onset Diabetes Of The Young, Type 5 6
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 2
May-Hegglin Anomaly 6
Mckusick Kaufman Syndrome 2
McLeod Syndrome 1
Meckel Syndrome 1 3
Meckel Syndrome 10 2
Meckel syndrome 11 1
Meckel Syndrome 12 2
Meckel Syndrome 2 3
Meckel Syndrome 3 3
Meckel Syndrome 4 4
Meckel Syndrome 5 4
Meckel Syndrome 6 3
Meckel Syndrome 7 2
Meckel Syndrome 8 3
Meckel Syndrome 9 3
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 4
MEDNIK Syndrome 1
Medullary Cystic Kidney Disease 1 1
Medullary Cystic Kidney Disease 2 1
Medulloblastoma 2
Meesmann Corneal Dystrophy 2
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A 2
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation 2
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic 1
Megaloblastic Anemia Due To Inborn Errors Of Metabolism 2
Megalocornea 1, X-linked 1
Meier-Gorlin Syndrome 1 3
Meier-Gorlin Syndrome 2 3
Meier-Gorlin Syndrome 3 3
Meier-Gorlin Syndrome 4 3
Meier-Gorlin Syndrome 5 3
Melanoma Astrocytoma Syndrome 2
Melanoma, Cutaneous Malignant 2 2
Melanoma, Cutaneous Malignant 3 2
Melanoma, cutaneous malignant, susceptibility to, 8 1
Melanoma-Pancreatic Cancer Syndrome 3
Melnick-Needles Syndrome 2
Meningioma, Familial 3
Menkes Kinky-Hair Syndrome 2
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 1
Mental Retardation With Language Impairment And Autistic Features 1
Mental Retardation, Autosomal Dominant 1 5
Mental Retardation, Autosomal Dominant 13; MRD13 2
Mental Retardation, Autosomal Dominant 18 1
Mental Retardation, Autosomal dominant 19 1
Mental Retardation, Autosomal Dominant 21 1
Mental Retardation, Autosomal Dominant 23 1
Mental Retardation, Autosomal Dominant 29 1
Mental Retardation, Autosomal Dominant 3 1
Mental Retardation, Autosomal Dominant 31 1
Mental Retardation, Autosomal Dominant 39 1
Mental Retardation, Autosomal Dominant 4 1
Mental Retardation, Autosomal Dominant 43 1
Mental Retardation, Autosomal Dominant 44 1
Mental Retardation, Autosomal Dominant 6 1
Mental Retardation, Autosomal Dominant 7 1
Mental Retardation, Autosomal Dominant 8 1
Mental Retardation, Autosomal Dominant 9 1
Mental Retardation, Autosomal Dominant, 27 2
Mental Retardation, Autosomal Recessive 1 1
Mental Retardation, Autosomal Recessive 12 1
Mental Retardation, Autosomal Recessive 13 2
Mental Retardation, Autosomal Recessive 15 1
Mental Retardation, Autosomal Recessive 18 1
Mental Retardation, Autosomal Recessive 2 1
Mental Retardation, Autosomal Recessive 3 1
Mental Retardation, Autosomal Recessive 43 1
Mental Retardation, Autosomal Recessive 44 1
Mental Retardation, Autosomal Recessive 46 1
Mental Retardation, Autosomal Recessive 47 1
Mental Retardation, Autosomal Recessive 56 1
Mental Retardation, Autosomal Recessive 58 1
Mental Retardation, Autosomal Recessive 7 2
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations 5
Mental Retardation, with or without Nystagmus 2
Mental Retardation, X-Linked 1/78 3
Mental Retardation, X-Linked 102 1
Mental Retardation, X-Linked 19 1
Mental Retardation, X-Linked 21 2
Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) 5
Mental Retardation, X-Linked 30 3
Mental Retardation, X-Linked 41 2
Mental Retardation, X-linked 49 2
Mental Retardation, X-Linked 58 1
Mental Retardation, X-Linked 63 3
Mental Retardation, X-Linked 72 2
Mental Retardation, X-Linked 9 2
Mental Retardation, X-Linked 90 2
Mental Retardation, X-Linked 93 2
Mental Retardation, X-Linked 96 1
Mental Retardation, X-Linked 97 1
Mental Retardation, X-linked 98 2
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 1
Mental Retardation, X-Linked, Syndromic 14 3
Mental Retardation, X-linked, Syndromic 32 1
Mental Retardation, X-linked, Syndromic 33 1
Mental Retardation, X-Linked, Syndromic, Christianson Type 6
Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 3
Mental Retardation, X-Linked, Syndromic, Hedera Type 1
Mental Retardation, X-Linked, Syndromic, Nascimento Type 2
Mental Retardation, X-Linked, Syndromic, Raymond Type 2
Mental Retardation, X-Linked, Syndromic, Turner Type 3
Mental Retardation, X-Linked, Syndromic, Wu Type 2
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related 3
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait 3
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 4
Merosin Deficient Congenital Muscular Dystrophy 5
Metachondromatosis 1
Metachromatic Leukodystrophy 2
Metaphyseal Anadysplasia 2 1
Metaphyseal Chondrodysplasia, Jansen Type 1
Metaphyseal Chondrodysplasia, Mckusick Type 2
Metaphyseal Chondrodysplasia, Schmid Type 2
Metaphyseal Dysplasia Without Hypotrichosis 2
Metaphyseal Dysplasia, Spahr Type 1
Metatropic Dwarfism 1
Methemoglobinemia 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 3
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 1
Microcephalic Osteodysplastic Primordial Dwarfism Type 2 1
Microcephaly 9, primary, autosomal recessive 2
Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 1
Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 1
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 1
Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation 4
Microcephaly, Normal Intelligence And Immunodeficiency 4
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus 1
Microcytic Anemia 1
Microphthalmia Syndromic 3 7
Microphthalmia Syndromic 5 4
Microphthalmia Syndromic 6 2
Microphthalmia Syndromic 7 1
Microphthalmia Syndromic 9 1
Microphthalmia With Limb Anomalies 2
Microphthalmia, Isolated 2 2
Microphthalmia, Isolated 3 2
Microphthalmia, Isolated 4 2
Microphthalmia, Isolated 5 5
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 1
Microphthalmia, Isolated, with Coloboma 9 1
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
Miller Syndrome 4
Miller-Dieker Lissencephaly Syndrome 1
Minicore Myopathy With External Ophthalmoplegia 5
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency 2
Mitochondrial Complex I Deficiency 15
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency 3
Mitochondrial Complex II Deficiency 2
Mitochondrial Complex III Deficiency 3
Mitochondrial Complex III Deficiency, Nuclear Type 2 2
Mitochondrial Complex III Deficiency, Nuclear Type 3 2
Mitochondrial Complex III Deficiency, Nuclear Type 4 2
Mitochondrial Complex III Deficiency, Nuclear Type 5 2
Mitochondrial Complex III Deficiency, Nuclear Type 6 2
Mitochondrial Complex III Deficiency, Nuclear Type 7 2
Mitochondrial Complex III Deficiency, Nuclear Type 8 2
Mitochondrial Complex III Deficiency, Nuclear Type 9 2
Mitochondrial Complex IV Deficiency 10
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 2
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 3
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 2
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4 2
Mitochondrial DNA depletion syndrome 11 2
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) 2
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 2
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) 3
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type 3
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) 5
Mitochondrial DNA Depletion Syndrome 7 3
Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria) 5
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy 3
Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral 2
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome 3
Mitochondrial Phosphate Carrier Deficiency 2
Mitochondrial Pyruvate Carrier Deficiency 1
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency 1
Miyoshi Muscular Dystrophy 3 3
Miyoshi Myopathy 4
Mohr-Tranebjaerg Syndrome 3
Molybdenum Cofactor Deficiency C 1
Molybdenum Cofactor Deficiency Type A 1
Molybdenum Cofactor Deficiency Type B 1
Monoamine Oxidase A Deficiency 1
Monocarboxylate Transporter 1 Deficiency 2
MORM Syndrome 4
Morquio Syndrome A 3
Mosaic Variegated Aneuploidy Syndrome 2
Mosaic Variegated Aneuploidy Syndrome 2 1
Mowat-Wilson Syndrome 2
Moyamoya Disease 5 2
Mucolipidosis III Gamma 1
Mucopolysaccharidosis Type IX 1
Mucopolysaccharidosis Type VI 1
Mucopolysaccharidosis Type VII 3
Mucopolysaccharidosis, MPS-I-H/S 1
Mucopolysaccharidosis, MPS-I-S 3
Mucopolysaccharidosis, MPS-II 2
Mucopolysaccharidosis, MPS-III-A 2
Mucopolysaccharidosis, MPS-III-B 2
Mucopolysaccharidosis, MPS-III-C 3
Mucopolysaccharidosis, MPS-III-D 2
Mucopolysaccharidosis, MPS-IV-B 1
Muenke Syndrome 4
Muir-Torre Syndrome 2
Mullerian Aplasia And Hyperandrogenism 6
Multiple Carboxylase Deficiency, Juvenile Onset 1
Multiple Carboxylase Defiency, Early Onset 3
Multiple Endocrine Neoplasia, Type 1 2
Multiple Endocrine Neoplasia, Type 2A 2
Multiple Endocrine Neoplasia, Type 2B 1
Multiple Endocrine Neoplasia, Type IV 1
Multiple Epiphyseal Dysplasia 1 3
Multiple Epiphyseal Dysplasia 2 4
Multiple Epiphyseal Dysplasia 3 4
Multiple Epiphyseal Dysplasia 4 3
Multiple Epiphyseal Dysplasia 5 3
Multiple Epiphyseal Dysplasia 6 4
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 1
Multiple Sulfatase Deficiency 3
Multiple Synostoses Syndrome 1 2
Multiple Synostoses Syndrome 2 2
Multisystemic Smooth Muscle Dysfunction Syndrome 2
Muscle Eye Brain Disease 4
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency 3
Muscular Dystrophy, Congenital, LMNA-Related 5
Muscular Dystrophy, Congenital, Megaconial Type 3
Muscular Dystrophy, Limb Girdle, Type 2C 6
Muscular Dystrophy, Limb-Girdle, Type 1C 4
Muscular Dystrophy, Limb-Girdle, Type 1G 4
Muscular Dystrophy, Limb-Girdle, Type 2J 5
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 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 5
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 3
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 3
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 4
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 2
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2 2
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 2
Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 3
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 4
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, 9 3
Myasthenia, Limb-Girdle, Familial 4
Myasthenic Syndrome, Congenital, 15, without Tubular Aggregates 1
Myasthenic Syndrome, Congenital, 18 2
Myasthenic Syndrome, Congenital, 19 1
Myasthenic Syndrome, Congenital, 2A, Slow-Channel 1
Myasthenic Syndrome, Congenital, 7, Presynaptic 3
Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects 1
Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 1
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency 5
Myasthenic Syndrome, Congenital, Fast-Channel 5
Myasthenic Syndrome, Congenital, Slow-Channel 6
Myasthenic syndrome, congenital, with tubular aggregates 2 3
Myelodysplastic Syndrome 1
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to 2
Myh-Associated Polyposis 5
Myoclonic Dystonia 2
Myoclonic Epilepsy, Familial Infantile 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 4
Myopathy due to Myoadenylate Deaminase Deficiency 1
Myopathy with Extrapyramidal Signs 2
Myopathy With Lactic Acidosis, Hereditary 3
Myopathy, Centronuclear 4
Myopathy, Centronuclear, 1 4
Myopathy, Centronuclear, 3 1
Myopathy, Congenital, Compton-North 4
Myopathy, Distal, 1 3
Myopathy, Distal, 2 3
Myopathy, Distal, 4 2
Myopathy, Distal, Tateyama Type 1
Myopathy, Distal, With Anterior Tibial Onset 3
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia 5
Myopathy, Early-Onset, With Fatal Cardiomyopathy 2
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 3
Myopathy, Myosin Storage 4
Myopathy, Myosin Storage, Autosomal Recessive 1
Myopathy, Reducing Body, X-Linked, Childhood-Onset 2
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 3
Myopathy, tubular aggregate 3
Myopathy, X-Linked, With Postural Muscle Atrophy 3
Myopia, High, with Cataract And Vitreoretinal Degeneration 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 3
Nanophthalmos 2 1
Native American myopathy 4
Navajo Neurohepatopathy 2
Naxos Disease 2
Nemaline Myopathy 1 4
Nemaline Myopathy 10 4
Nemaline Myopathy 2 6
Nemaline Myopathy 3 5
Nemaline Myopathy 4 5
Nemaline Myopathy 5 4
Nemaline Myopathy 6 4
Nemaline Myopathy 7 4
Nemaline Myopathy 8 7
Nemaline Myopathy 9 4
Neoplasm Of Ovary 1
Nephrogenic Syndrome Of Inappropriate Antidiuresis 2
Nephrolithiasis, Calcium Oxalate 2
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 1
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 2
Nephronophthisis 3
Nephronophthisis 11 3
Nephronophthisis 12 3
Nephronophthisis 13 2
Nephronophthisis 14 1
Nephronophthisis 15 3
Nephronophthisis 16 3
Nephronophthisis 18 3
Nephronophthisis 19 2
Nephronophthisis 4 3
Nephronophthisis 7 3
Nephronophthisis 9 3
Nephronophthisis-Like Nephropathy 1 1
Nephrotic Syndrome, Idiopathic, Steroid-Resistant 2
Nephrotic Syndrome, Type 10 2
Nephrotic Syndrome, Type 11 2
Nephrotic Syndrome, Type 12 2
Nephrotic Syndrome, Type 13 2
Nephrotic Syndrome, Type 3 2
Nephrotic syndrome, type 4 2
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities 2
Nephrotic Syndrome, Type 6 1
Nephrotic Syndrome, Type 7 2
Nephrotic Syndrome, Type 8 1
Nephrotic syndrome, type 9 3
Netherton Syndrome 2
Neu-Laxova syndrome 1 1
Neuroblastoma 1 2
Neuroblastoma 2 2
Neuroblastoma 3 2
Neurodegeneration With Brain Iron Accumulation 1 2
Neurodegeneration With Brain Iron Accumulation 2B 2
Neurodegeneration With Brain Iron Accumulation 4 2
Neurodegeneration With Brain Iron Accumulation 5 4
Neurodegeneration With Brain Iron Accumulation 6 2
Neurodevelopmental Disorder with Involuntary Movements 1
Neuroferritinopathy 1
Neurofibromatosis, Familial Spinal 2
Neurofibromatosis, Type 1 6
Neurofibromatosis, Type 2 1
Neurofibromatosis-Noonan Syndrome 2
Neuromyotonia and axonal neuropathy, autosomal recessive 3
Neuronopathy, Distal Hereditary Motor, Type VIIB 3
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 3
Neuropathy, Hereditary Motor and Sensory, Okinawa Type 2
Neuropathy, Hereditary Motor and Sensory, Russe Type 4
Neuropathy, Hereditary Motor and Sensory, Type VIA 5
Neuropathy, Hereditary Motor and Sensory, Type VIB 1
Neuropathy, Hereditary Sensory And Autonomic, Type 1A 2
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 1
Neuropathy, Hereditary Sensory, Type ID 2
Neuropathy, Hereditary Sensory, Type IE 4
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 2
Neutral Lipid Storage Disease With Myopathy 5
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults 2
Neutropenia, Severe Congenital, 2, Autosomal Dominant 2
Neutropenia, Severe Congenital, 4, Autosomal Recessive 2
Neutropenia, Severe Congenital, 5, Autosomal Recessive 2
Newfoundland Rod-Cone Dystrophy 4
Niemann-Pick Disease Type C1 2
Niemann-Pick Disease Type C2 2
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 3
Night Blindness, Congenital Stationary, Rhodopsin-Related 3
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 4
Night Blindness, Congenital Stationary, Type 1E 2
Night Blindness, Congenital Stationary, Type 1F 2
Night Blindness, Congenital Stationary, Type 1G 2
Night Blindness, Congenital Stationary, Type 2A 4
Night Blindness, Congenital Stationary, Type 2B 5
Nijmegen Breakage Syndrome-Like Disorder 2
Non-Herlitz Junctional Epidermolysis Bullosa 7
Nonaka Myopathy 3
Noonan Syndrome 1 7
Noonan Syndrome 10 2
Noonan Syndrome 3 4
Noonan Syndrome 4 6
Noonan Syndrome 5 8
Noonan Syndrome 6 7
Noonan Syndrome 7 6
Noonan Syndrome 8 4
Noonan Syndrome 9 2
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia 5
Noonan-Like Syndrome With Loose Anagen Hair 5
Norrie Disease 3
Norum Disease 1
Nystagmus 6, Congenital, X-Linked 2
Obesity 3
Obesity, Morbid, Due to Leptin Deficiency 5
Obesity, Morbid, Due to Leptin Receptor Deficiency 5
Occipital Horn Syndrome 2
Occult Macular Dystrophy 2
Ocular Albinism, Type I 2
Oculoauricular Syndrome 1
Oculocutaneous Albinism Type 1A 2
Oculocutaneous Albinism Type 1B 2
Oculocutaneous Albinism Type 3 2
Oculocutaneous Albinism Type IV 2
Oculodentodigital Dysplasia 1
Oculodentodigital Dysplasia, Autosomal Recessive 1
Oculofaciocardiodental Syndrome 3
Odontoonychodermal Dysplasia 2
Ogden Syndrome 3
Oguchi's Disease 2
OHDO Syndrome, X-linked; OHDOX 2
Oligodontia-Colorectal Cancer Syndrome 2
Omenn Syndrome 4
Omodysplasia 1 1
Oocyte Maturation Defect 3
Opitz G/BBB Syndrome, Type I 2
Opsismodysplasia 1
Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures 1
Optic Atrophy 7 3
Optic Atrophy And Cataract, Autosomal Dominant 4
Optic Atrophy Type 1 4
Optic Disc Anomalies with Retinal and/or Macular Dystrophy 1
Optic Nerve Hypoplasia, Bilateral 3
Oral-Facial-Digital Syndrome 2
Ornithine Carbamoyltransferase Deficiency 4
Orofacial Cleft 6, Susceptibility To 1
Orofaciodigital Syndrome IV 1
Orofaciodigital Syndrome V 1
Orotic Aciduria 1
Osler Hemorrhagic Telangiectasia Syndrome 2
Osteitis Deformans 4
Osteoarthritis With Mild Chondrodysplasia 3
Osteogenesis Imperfecta Type III 4
Osteogenesis Imperfecta, Type I 4
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
Osteoglophonic Dysplasia 4
Osteopathia Striata With Cranial Sclerosis 1
Osteopetrosis Autosomal Dominant Type 1 3
Osteopetrosis Autosomal Dominant Type 2 2
Osteopetrosis Autosomal Recessive 1 2
Osteopetrosis Autosomal Recessive 2 2
Osteopetrosis Autosomal Recessive 4 1
Osteopetrosis Autosomal Recessive 5 2
Osteopetrosis Autosomal Recessive 7 2
Osteopetrosis With Renal Tubular Acidosis 4
Osteopetrosis, Autosomal Recessive 8 2
Osteoporosis 2
Osteoporosis With Pseudoglioma 1
Oto-Palato-Digital Syndrome Type 1 3
Oto-Palato-Digital Syndrome, Type II 3
Otospondylomegaepiphyseal Dysplasia 4
Ovalocytosis 1
Ovarian Dysgenesis 1 3
Ovarian Dysgenesis 2 3
Ovarian Hyperstimulation Syndrome 3
Pachydermoperiostosis 1
Paget Disease of Bone 3 1
Pallister-Hall Syndrome 3
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal 4
Palmoplantar Keratoderma and Woolly Hair 2
Palmoplantar Keratoderma, Epidermolytic 3
Palmoplantar Keratoderma, Nonepidermolytic 1
Pancreatic Cancer 2
Pancreatic Cancer 2 5
Pancreatic Cancer 3 3
Pancreatic Cancer 4 6
Pancreatitis, Chronic 6
Panhypopituitarism X-Linked 5
Panic Disorder 1 1
Papillon-Lefevre Syndrome 1
Papillorenal Syndrome 3
Paraganglioma And Gastric Stromal Sarcoma 5
Paragangliomas 1 3
Paragangliomas 2 2
Paragangliomas 3 3
Paragangliomas 4 3
Paragangliomas 5 2
Paramyotonia Congenita Of Von Eulenburg 1
Parastremmatic Dwarfism 1
Parathyroid Carcinoma 2
Parietal Foramina 1
Parietal Foramina 2 1
Parietal Foramina With Cleidocranial Dysplasia 2
Parkinson Disease 1 2
Parkinson Disease 14 2
Parkinson Disease 15 1
Parkinson Disease 19 1
Parkinson Disease 2 2
Parkinson Disease 20 1
Parkinson Disease 4 2
Parkinson Disease 6, Autosomal Recessive Early-Onset 2
Parkinson Disease 7 2
Parkinson Disease 8 2
Parkinson's Disease 1
Paroxysmal Choreoathetosis 2
Paroxysmal Extreme Pain Disorder 2
Partial Albinism 2
Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome 1
Partington X-Linked Mental Retardation Syndrome 1
Patterned Dystrophy Of Retinal Pigment Epithelium 4
Peeling Skin Syndrome, Acral Type 1
Pelger-Huet Anomaly 2
Pelizaeus-Merzbacher Disease 2
Pendred's Syndrome 1
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease 3
Perlman Syndrome 1
Permanent Neonatal Diabetes Mellitus 2
Peroxisomal Acyl-CoA Oxidase Deficiency 2
Peroxisome biogenesis disorder 10A (Zellweger) 3
Peroxisome biogenesis disorder 11A (Zellweger) 3
Peroxisome biogenesis disorder 11B 3
Peroxisome biogenesis disorder 12A (Zellweger) 3
Peroxisome biogenesis disorder 13A (Zellweger) 3
Peroxisome Biogenesis Disorder 14B 3
Peroxisome biogenesis disorder 1A (Zellweger) 5
Peroxisome biogenesis disorder 1B (NALD/IRD) 3
Peroxisome biogenesis disorder 2A (Zellweger) 3
Peroxisome biogenesis disorder 2B 3
Peroxisome biogenesis disorder 3A (Zellweger) 5
Peroxisome biogenesis disorder 3B 3
Peroxisome biogenesis disorder 4A (Zellweger) 5
Peroxisome biogenesis disorder 4B 3
Peroxisome biogenesis disorder 5A (Zellweger) 3
Peroxisome biogenesis disorder 5B 3
Peroxisome biogenesis disorder 6A (Zellweger) 5
Peroxisome biogenesis disorder 6B 3
Peroxisome biogenesis disorder 7A (Zellweger) 5
Peroxisome biogenesis disorder 7B 3
Peroxisome biogenesis disorder 8A, (Zellweger) 3
Peroxisome biogenesis disorder 8B 3
Peroxisome Biogenesis Disorder 9B 4
Perrault Syndrome 1
Perrault Syndrome 2 1
Perrault Syndrome 3 3
Perrault Syndrome 4 1
Perrault Syndrome 5 1
Perry Syndrome 2
Persistent Mullerian Duct Syndrome 3
Peters Anomaly 3
Peters Plus Syndrome 1
Pettigrew Syndrome 2
Peutz-Jeghers Syndrome 7
Pfeiffer Syndrome 6
Phelan-Mcdermid Syndrome 2
Phenylketonuria 2
Pheochromocytoma 7
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 3
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 3
Phosphoglycerate Dehydrogenase Deficiency 1
Phosphoglycerate Kinase 1 Deficiency 4
Phosphoribosylpyrophosphate Synthetase Superactivity 1
Pierson Syndrome 1
Pigmentary Retinal Dystrophy 10
Pigmented Nodular Adrenocortical Disease, Primary, 1 1
Pigmented Nodular Adrenocortical Disease, Primary, 2 1
Pigmented Paravenous Chorioretinal Atrophy 3
Pilomatrixoma 1
Pitt-Hopkins Syndrome 3
Pitt-Hopkins-like syndrome 2 4
Pituitary Adenoma, Growth Hormone-Secreting 1
Pituitary Dependent Hypercortisolism 1
Pituitary Hormone Deficiency, Combined 1 1
Pituitary Hormone Deficiency, Combined 2 7
Pituitary Hormone Deficiency, Combined 3 4
Pituitary Hormone Deficiency, Combined 4 6
Pityriasis rubra pilaris 1
Plasminogen Activator Inhibitor Type 1 Deficiency 2
Platelet Glycoprotein IV Deficiency 2
Platyspondylic Lethal Skeletal Dysplasia Torrance Type 2
Pleuropulmonary Blastoma 2
Pneumothorax, Primary Spontaneous 1
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 1
Polycyctic Kidney Disease 3 3
Polycystic Kidney Disease 1 4
Polycystic Kidney Disease 2 4
Polycystic Kidney Disease, Infantile Type 2
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 3
Polycystic Liver Disease 2 1
Polydactyly Preaxial Type 4 3
Polydactyly, Postaxial, Type A1 3
Polydactyly, Preaxial II 1
Polyglandular Autoimmune Syndrome, Type 1 5
Polyglucosan body disease, adult form 2
Polyglucosan Body Myopathy 1 with or without Immunodeficiency 2
Polyglucosan Body Myopathy 2 3
Polymicrogyria, Asymmetric 1
Polymicrogyria, Bilateral Frontoparietal 1
Polymorphous Corneal Dystrophy 1
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 3
Polyostotic Osteolytic Dysplasia, Hereditary Expansile 3
Pontocerebellar Hypoplasia Type 1 1
Pontocerebellar Hypoplasia Type 1B 1
Pontocerebellar Hypoplasia Type 2A 1
Pontocerebellar Hypoplasia Type 2B 1
Pontocerebellar Hypoplasia Type 2C 1
Pontocerebellar Hypoplasia Type 4 3
Pontocerebellar Hypoplasia Type 5 1
Pontocerebellar Hypoplasia Type 6 1
Popliteal Pterygium Syndrome 1
Popliteal pterygium syndrome 2, lethal type 2
Poretti-Boltshauser Syndrome 1
Porokeratosis, Disseminated Superficial Actinic 1 1
Porphyria, Acute Hepatic 2
Porphyria, Congenital Erythropoietic 3
Posterior Column Ataxia With Retinitis Pigmentosa 5
Potassium Aggravated Myotonia 2
Potocki-Lupski syndrome 1
Prader-Willi Syndrome 1
Preaxial Deficiency, Postaxial Polydactyly And Hypospadias 2
Premature Chromatid Separation Trait 2
Premature Ovarian Failure 1
Premature Ovarian Failure 10 3
Premature Ovarian Failure 3 2
Premature Ovarian Failure 5 2
Premature Ovarian Failure 6 2
Premature Ovarian Failure 7 2
Premature Ovarian Failure 9 2
Primary Aldosteronism, Seizures, and Neurologic Abnormalities 2
Primary Autosomal Recessive Microcephaly 1 2
Primary Autosomal Recessive Microcephaly 2 2
Primary Autosomal Recessive Microcephaly 3 2
Primary Autosomal Recessive Microcephaly 4 1
Primary Autosomal Recessive Microcephaly 5 2
Primary Autosomal Recessive Microcephaly 6 2
Primary Autosomal Recessive Microcephaly 7 2
Primary Erythromelalgia 2
Primary Hyperoxaluria, Type I 3
Primary Hyperoxaluria, Type II 3
Primary Hyperoxaluria, Type III 3
Primary Hypomagnesemia 3
Primary Macronodular Adrenal Hyperplasia 1
Primary Open Angle Glaucoma 2
Primary Open Angle Glaucoma Juvenile Onset 1 2
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions 1 3
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 2 2
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 2
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 3
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 2
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive 4
Progressive Familial Heart Block Type 1A 2
Progressive Familial Heart Block Type 1B 2
Progressive Intrahepatic Cholestasis 3
Progressive Osseous Heteroplasia 1
Progressive Sclerosing Poliodystrophy 6
Prolactinoma, Familial 1
Prolonged Electroretinal Response Suppression 1
Proopiomelanocortin Deficiency 2
Propionic Acidemia 6
Proprotein Convertase 1/3 Deficiency 6
Prostate Cancer 6
Prothrombin Deficiency, Congenital 3
Protoporphyria, Erythropoietic, X-Linked 3
Proud Levine Carpenter Syndrome 1
Pseudo Von Willebrand Disease 3
Pseudo-Hurler Polydystrophy 1
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 3
Pseudohypoaldosteronism Type 1 Autosomal Dominant 1
Pseudohypoaldosteronism Type 1 Autosomal Recessive 3
Pseudohypoaldosteronism, type IIB 2
Pseudohypoaldosteronism, type IIC 2
Pseudohypoaldosteronism, type IID 2
Pseudohypoaldosteronism, type IIE 2
Pseudohypoparathyroidism Type 1A 3
Pseudohypoparathyroidism Type 1B 3
Pseudohypoparathyroidism Type 1C 2
Pseudopseudohypoparathyroidism 2
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency 1
Psoriasis susceptibility 2 1
Pulmonary Alveolar Microlithiasis 1
Pulmonary Arterial Hypertension 1
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 3
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 1
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 1
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 1
Pyknodysostosis 1
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne 1
Pyridoxal 5'-Phosphate-Dependent Epilepsy 2
Pyridoxine-Dependent Epilepsy 3
Pyruvate Carboxylase Deficiency 3
Pyruvate Dehydrogenase E1-Alpha Deficiency 3
Pyruvate Dehydrogenase E1-Beta Deficiency 2
Pyruvate Dehydrogenase E2 Deficiency 2
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 2
Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency 1
Pyruvate Dehydrogenase Phosphatase Deficiency 2
Pyruvate Kinase Deficiency 1
Quebec Platelet Disorder 2
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 3
Raine Syndrome 1
Rapadilino Syndrome 2
Rapp-Hodgkin Ectodermal Dysplasia Syndrome 2
RAS-Associated Autoimmune Leukoproliferative Disorder 1
Recessive Dystrophic Epidermolysis Bullosa 2
Refsum Disease, Classic 3
Reis-Bucklers' Corneal Dystrophy 1
Renal Adysplasia 2
Renal Cell Carcinoma, Nonpapillary 2
Renal Cell Carcinoma, Papillary, 1 3
Renal Dysplasia And Retinal Aplasia 4
Renal Hypodysplasia/Aplasia 2 2
Renal Hypouricemia 2 2
Renal Tubular Acidosis With Progressive Nerve Deafness 3
Renal Tubular Acidosis, Distal, Autosomal Dominant 3
Renal Tubular Acidosis, Distal, Autosomal Recessive 3
Renal Tubular Acidosis, Distal, With Hemolytic Anemia 2
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 1
Renal Tubular Dysgenesis 6
Renpenning Syndrome 1 3
Restrictive Dermopathy, Lethal 2
Reticulate Acropigmentation Of Kitamura 1
Retinal Cone Dystrophy 3A 2
Retinal Cone Dystrophy 3B 3
Retinal Cone Dystrophy 4 4
Retinal Dystrophy and Iris Coloboma with or without Cataract 1
Retinal Dystrophy and Obesity 1
Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities 1
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
Retinitis Pigmentosa 5
Retinitis Pigmentosa 1 4
Retinitis Pigmentosa 10 4
Retinitis Pigmentosa 11 4
Retinitis Pigmentosa 12 5
Retinitis Pigmentosa 13 4
Retinitis Pigmentosa 14 4
Retinitis Pigmentosa 15 4
Retinitis Pigmentosa 17 4
Retinitis Pigmentosa 18 4
Retinitis Pigmentosa 19 5
Retinitis Pigmentosa 2 4
Retinitis Pigmentosa 20 5
Retinitis Pigmentosa 23 4
Retinitis Pigmentosa 25 4
Retinitis Pigmentosa 26 6
Retinitis Pigmentosa 27 4
Retinitis Pigmentosa 28 3
Retinitis Pigmentosa 30 4
Retinitis Pigmentosa 31 4
Retinitis Pigmentosa 33 5
Retinitis Pigmentosa 35 5
Retinitis Pigmentosa 36 4
Retinitis Pigmentosa 37 5
Retinitis Pigmentosa 38 5
Retinitis Pigmentosa 39 3
Retinitis Pigmentosa 4 5
Retinitis Pigmentosa 40 4
Retinitis Pigmentosa 41 4
Retinitis Pigmentosa 42 4
Retinitis Pigmentosa 43 4
Retinitis Pigmentosa 44 4
Retinitis Pigmentosa 45 4
Retinitis Pigmentosa 46 3
Retinitis Pigmentosa 47 4
Retinitis Pigmentosa 48 5
Retinitis Pigmentosa 49 4
Retinitis Pigmentosa 50 5
Retinitis Pigmentosa 51 3
Retinitis Pigmentosa 54 3
Retinitis Pigmentosa 55 3
Retinitis Pigmentosa 56 4
Retinitis Pigmentosa 57 3
Retinitis Pigmentosa 58 4
Retinitis Pigmentosa 59 3
Retinitis Pigmentosa 60 4
Retinitis Pigmentosa 61 3
Retinitis Pigmentosa 62 3
Retinitis Pigmentosa 66 4
Retinitis Pigmentosa 67 1
Retinitis Pigmentosa 68 3
Retinitis Pigmentosa 69 1
Retinitis Pigmentosa 7 6
Retinitis Pigmentosa 70 1
Retinitis Pigmentosa 71 1
Retinitis Pigmentosa 72 1
Retinitis Pigmentosa 73 1
Retinitis Pigmentosa 74 1
Retinitis Pigmentosa 75 1
Retinitis Pigmentosa 9 1
Retinitis Pigmentosa and Erythrocytic Microcytosis 1
Retinitis Pigmentosa with or without Situs Inversus 3
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 4
Retinoblastoma 1
Retinoschisis 1, X-Linked, Juvenile 4
Rett Syndrome 3
Rett Syndrome, Congenital Variant 5
Revesz Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 1 2
Rhabdoid Tumor Predisposition Syndrome 2 3
Rhizomelic Chondrodysplasia Punctata Type 1 3
Rhizomelic Chondrodysplasia Punctata Type 2 2
Rhizomelic Chondrodysplasia Punctata, Type 3 3
Rigid Spine Muscular Dystrophy 1 4
Ring Dermoid Of Cornea 2
Rippling Muscle Disease 2
Ritscher-Schinzel Syndrome 2 1
Roberts Syndrome 3
Roberts-SC Phocomelia Syndrome 1
Robinow Syndrome 1
Robinow Syndrome, Autosomal Recessive 2
Robinow-Sorauf Syndrome 1
Rothmund-Thomson Syndrome 3
Rotor syndrome 3
Rubinstein-Taybi Syndrome 5
Rubinstein-Taybi Syndrome 2 5
Saethre-Chotzen Syndrome 5
Salla Disease 1
Sandhoff Disease 1
Scaphocephaly, Maxillary Retrusion, And Mental Retardation 2
Scapuloperoneal Myopathy, Myh7-Related 2
Scapuloperoneal Myopathy, X-Linked Dominant 4
Scapuloperoneal Spinal Muscular Atrophy 2
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 1
Schimke Immunoosseous Dysplasia 3
Schneckenbecken Dysplasia 1
Schnyder Crystalline Corneal Dystrophy 2
Schopf-Schulz-Passarge Syndrome 2
Schwannomatosis 1 2
Schwannomatosis 2 2
Schwartz Jampel Syndrome Type 1 1
Sclerosteosis 1
Scott Syndrome 3
Sebastian Syndrome 6
Seckel Syndrome 1
Seckel Syndrome 4 1
Seizures, Benign Familial Infantile, 2 3
Seizures, Benign Familial Neonatal, 2 3
Seizures, Cortical Blindness, Microcephaly Syndrome 1
Sengers syndrome 3
Senior-Loken Syndrome 4 2
Senior-Loken Syndrome 5 4
Senior-Loken Syndrome 6 5
Senior-Loken Syndrome 7 4
Senior-Loken Syndrome 8 2
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis 4
Sepiapterin Reductase Deficiency 2
Septooptic Dysplasia 7
Serkal Syndrome 1
SeSAME Syndrome 3
Severe Combined Immunodeficiency Due To Ada Deficiency 1
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation 1
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 1
Severe Congenital Neutropenia Autosomal Dominant 3
Severe Congenital Neutropenia Autosomal Recessive 3 2
Severe Congenital Neutropenia X-Linked 2
Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, NK Cell-Positive 2
Severe Myoclonic Epilepsy In Infancy 4
Severe X-Linked Myotubular Myopathy 4
Short QT Syndrome 1 3
Short QT Syndrome 2 4
Short QT Syndrome 3 3
Short Stature, Idiopathic, Autosomal 2
Short Stature, Idiopathic, X-Linked 2
Short Stature, Mcrocephaly, and Endocrine Dysfunction 1
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
Short-Rib Thoracic Dysplasia 10 with or without Polydactyly 1
Short-Rib Thoracic Dysplasia 11 with or without Polydactyly 1
Short-Rib Thoracic Dysplasia 13 with or without Polydactyly 1
Short-Rib Thoracic Dysplasia 2 with or without Polydactyly 2
Short-Rib Thoracic Dysplasia 3 with or without Polydactyly 3
Short-Rib Thoracic Dysplasia 4 with or without Polydactyly 2
Short-Rib Thoracic Dysplasia 5 with or without Polydactyly 3
Short-Rib Thoracic Dysplasia 6 with or without Polydactyly 2
Short-Rib Thoracic Dysplasia 7 with or without Polydactyly 4
Short-Rib Thoracic Dysplasia 8 with or without Polydactyly 2
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly 3
Shprintzen-Goldberg Syndrome 3
Shwachman Syndrome 2
Sialic Acid Storage Disease, Severe Infantile Type 3
Sialuria 1
Sick Sinus Syndrome 1, Autosomal Recessive 1
Sick Sinus Syndrome 2, Autosomal Dominant 4
Sick Sinus Syndrome 3, Susceptibility To 2
Sickle Cell Anemia 1
Siderius X-Linked Mental Retardation Syndrome 1
Simpson-Golabi-Behmel Syndrome 3
Simpson-Golabi-Behmel Syndrome, Type 2 2
Single Upper Central Incisor 1
Singleton-Merten Syndrome 1 1
Sitosterolemia 6
Sjogren-Larsson Syndrome 1
Skin Fragility Woolly Hair Syndrome 2
Skin/Hair/Eye Pigmentation, Variation In, 1 2
Skin/Hair/Eye Pigmentation, Variation In, 2 1
Skin/Hair/Eye Pigmentation, Variation In, 3 2
Skin/Hair/Eye Pigmentation, Variation In, 4 2
Small patella syndrome 2
Smith Mccort Dysplasia 1
Smith-Lemli-Opitz Syndrome 3
Smith-Magenis Syndrome 1
Smith-McCort Dysplasia 2 1
Snyder Robinson Syndrome 3
Sorsby Fondus Dystrophy 3
Sotos Syndrome 2 1
Sotos' Syndrome 2
Spastic Ataxia 2, Autosomal Recessive 1
Spastic Ataxia 4, Autosomal Recessive 2
Spastic Ataxia Charlevoix-Saguenay Type 1
Spastic Paraplegia 1 4
Spastic Paraplegia 10 4
Spastic Paraplegia 11 4
Spastic Paraplegia 12 3
Spastic Paraplegia 13 3
Spastic Paraplegia 15 4
Spastic Paraplegia 17 4
Spastic Paraplegia 18 3
Spastic Paraplegia 2 4
Spastic Paraplegia 26 3
Spastic Paraplegia 28 4
Spastic Paraplegia 3 4
Spastic Paraplegia 30 4
Spastic Paraplegia 31 4
Spastic Paraplegia 33 2
Spastic paraplegia 35 4
Spastic Paraplegia 39 3
Spastic Paraplegia 4 4
Spastic Paraplegia 42 2
Spastic Paraplegia 43 2
Spastic Paraplegia 44 2
Spastic Paraplegia 45 3
Spastic Paraplegia 46 3
Spastic Paraplegia 47 3
Spastic Paraplegia 48 4
Spastic Paraplegia 49 3
Spastic Paraplegia 50 3
Spastic Paraplegia 51 3
Spastic Paraplegia 52 3
Spastic Paraplegia 53 3
Spastic Paraplegia 54 3
Spastic Paraplegia 55 2
Spastic Paraplegia 56 4
Spastic Paraplegia 57 3
Spastic Paraplegia 5A 4
Spastic Paraplegia 6 4
Spastic Paraplegia 61 3
Spastic Paraplegia 62 3
Spastic Paraplegia 63 2
Spastic Paraplegia 64 2
Spastic Paraplegia 7 6
Spastic Paraplegia 72 3
Spastic Paraplegia 75 3
Spastic Paraplegia 8 4
Spermatogenic Failure 2 2
Spermatogenic Failure 3 2
Spermatogenic Failure 6 3
Spermatogenic Failure 8 3
Spermatogenic Failure, Y-Linked, 1 1
Spermatogenic Failure, Y-Linked, 2 1
Spherocytosis, type 2 2
Spherocytosis, Type 3 2
Spherocytosis, Type 4 2
Spherocytosis, Type 5 2
Spheroid Body Myopathy 1
Sphingolipid Activator Protein 1 Deficiency 2
Spinal Muscular Atrophy With Respiratory Distress 1 2
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 1
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 1
Spinal Muscular Atrophy, Distal, X-Linked 3 3
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED 2
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 4
Spinocerebellar Ataxia 21 1
Spinocerebellar Ataxia 7 1
Spinocerebellar Ataxia Autosomal Recessive 1 4
Spinocerebellar Ataxia, Autosomal Recessive 10 1
Spinocerebellar ataxia, autosomal recessive 12 3
Spinocerebellar Ataxia, Autosomal Recessive 20 1
Spinocerebellar Ataxia, Autosomal Recessive 8 2
Split-Hand/Foot Malformation 4 2
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 1
Spondylocarpotarsal Synostosis Syndrome 2
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 2
Spondylocostal Dysostosis 1 3
Spondylocostal Dysostosis 2 3
Spondylocostal Dysostosis 3 3
Spondylocostal Dysostosis 4 3
Spondylocostal Dysostosis 5 3
Spondyloenchondrodysplasia With Immune Dysregulation 2
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related 1
Spondyloepimetaphyseal Dysplasia Strudwick Type 3
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 1
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
Spondyloepimetaphyseal Dysplasia, Missouri Type 2
Spondyloepiphyseal Dysplasia Congenita 3
Spondyloepiphyseal Dysplasia Maroteaux Type 2
Spondyloepiphyseal Dysplasia Tarda 2
Spondyloepiphyseal Dysplasia Tarda Progressive Arthropathy 1
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 2
Spondyloepiphyseal Sysplasia, Stanescu Type 1
Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 2
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 2
Spondylometaphyseal Dysplasia, Kozlowski Type 1
Spondyloperipheral Dysplasia 3
Spongy Degeneration Of Central Nervous System 1
Stapes Ankylosis With Broad Thumb And Toes 1
STAR Syndrome 1
Stargardt Disease 1 7
Stargardt Disease 3 4
Stargardt Disease 4 4
Steel Syndrome 1
Stickler Syndrome Type 1 4
Stickler Syndrome, Type 2 4
Stickler Syndrome, Type 3 3
Stickler Syndrome, Type 4 4
Stickler Syndrome, Type 5 3
Stickler Syndrome, Type I, Nonsyndromic Ocular 5
Stuttering, Familial Persistent, 2 4
Stuve-Wiedemann Syndrome 1
Succinyl-CoA Acetoacetate Transferase Deficiency 2
Sulfite Oxidase Deficiency 1
Supranuclear Palsy, Progressive, 1 1
Supravalvar Aortic Stenosis 2
Surfactant Metabolism Dysfunction, Pulmonary, 1 3
Surfactant Metabolism Dysfunction, Pulmonary, 2 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 2
Surfactant Metabolism Dysfunction, Pulmonary, 5 2
Sveinsson Chorioretinal Atrophy 1
Symphalangism, Proximal, 1B 1
Syndactyly Cenani Lenz Type 2
Syndactyly Type 5 1
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 2
Synpolydactyly 1 1
Synpolydactyly 2 1
Systemic Carnitine Deficiency 4
TARP Syndrome 1
Tarsal Carpal Coalition Syndrome 1
Tay-Sachs Disease 2
Tay-Sachs disease AB Variant 1
Temple-Baraitser Syndrome 1
Temtamy Preaxial Brachydactyly Syndrome 2
Terminal Osseous Dysplasia 1
Testicular Anomalies with or without Congenital Heart Disease 3
Testosterone 17-Beta-Dehydrogenase Deficiency 5
Tetraamelia, Autosomal Recessive 1
Thalassemias, beta 1
Thanatophoric Dysplasia Type 1 6
Thanatophoric Dysplasia Type 2 6
Thiamine Responsive Megaloblastic Anemia Syndrome 1
Thiel-Behnke Corneal Dystrophy 2
Thiopurine Methyltransferase Deficiency 1
Three M Syndrome 1 2
Three M Syndrome 2 1
Thrombocythemia 2 1
Thrombocytopenia 2 6
Thrombocytopenia 4 4
Thrombocytopenia 5 2
Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia 5
Thrombocytopenia, Paris-Trousseau Type 3
Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis 1
Thrombocytopenia, X-Linked 3
Thrombocytopenia-Absent Radius Syndrome 4
Thrombophilia Due to Protein S Deficiency, Autosomal Dominant 1
Thrombophilia Due to Protein S Deficiency, Autosomal Recessive 1
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 1
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive 1
Thrombotic Thrombocytopenic Purpura 4
Thyroid Cancer, Nonmedullary, 4 1
Thyroid Dyshormonogenesis 1 2
Thyroid Dyshormonogenesis 2A 2
Thyroid Dyshormonogenesis 3 2
Thyroid Dyshormonogenesis 4 2
Thyroid Dyshormonogenesis 5 2
Thyroid Dyshormonogenesis 6 2
Thyroid Hormone Metabolism, Abnormal 2
Thyroid Hormone Resistance, Generalized, Autosomal Dominant 2
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 2
Thyroid Hormone Resistance, Selective Pituitary 2
Thyrotropin-Releasing Hormone Deficiency 2
Tietz Syndrome 1
Timothy Syndrome 6
Tnf Receptor-Associated Periodic Fever Syndrome (Traps) 2
Tooth Agenesis, Selective, 1 2
Tooth Agenesis, Selective, 3 2
Tooth Agenesis, Selective, 4 3
Tooth Agenesis, Selective, X-Linked, 1 3
Torg Winchester Syndrome 1
Townes-Brocks Syndrome 3
Transcobalamin II Deficiency 3
Transient Bullous Dermolysis Of The Newborn 1
Transposition Of The Great Arteries, Dextro-Looped 3 2
Treacher Collins Syndrome 4
Treacher Collins Syndrome 2 4
Treacher Collins syndrome 3 4
Tricho-Dento-Osseous Syndrome 1
Trichorhinophalangeal Dysplasia Type I 1
Trichorhinophalangeal Syndrome Type 3 2
Trichothiodystrophy Photosensitive 2
Trifunctional Protein Deficiency 5
Trigonocephaly 2 1
Trigonocephaly, Nonsyndromic 4
Trimethylaminuria 1
Tropical Calcific Pancreatitis 1
Troyer Syndrome 3
Tuberous Sclerosis 1 4
Tuberous Sclerosis 2 4
Tumor Predisposition Syndrome 3
Tumoral Calcinosis, Hyperphosphatemic, Familial 4
Turcot Syndrome 2
Tyrosinase-Positive Oculocutaneous Albinism 3
Tyrosine Hydroxylase Deficiency 2
Tyrosine Kinase 2 Deficiency 2
Tyrosinemia Type 2 1
Tyrosinemia Type I 1
Tyrosinemia, Type III 1
UDPglucose-4-Epimerase Deficiency 1
Ullrich Congenital Muscular Dystrophy 7
Ullrich Congenital Muscular Dystrophy 2 3
Ulna And Fibula Absence Of With Severe Limb Deficiency 1
Ulnar-Mammary Syndrome 3
Unverricht-Lundborg Syndrome 2
Urofacial Syndrome 1 2
Urofacial syndrome 2 1
Usher Syndrome Type 3B 1
Usher Syndrome, Type 1 3
Usher Syndrome, Type 1D 4
Usher Syndrome, Type 1F 3
Usher Syndrome, Type 2C 4
Usher Syndrome, Type 2D 3
Usher Syndrome, Type 3 2
Usher Syndrome, Type Ic 3
Usher Syndrome, Type Ig 3
Usher Syndrome, Type IIa 2
Usher Syndrome, Type IJ 3
UV-Sensitive Syndrome 1
UV-sensitive syndrome 2 1
Vacterl Association With Hydrocephalus 1
Van Der Woude Syndrome 2
Van Der Woude Syndrome 2 1
Van Maldergem Syndrome 1 1
Variegate Porphyria 4
Vasculopathy, Retinal, With Cerebral Leukodystrophy 1
Vater Association 1
Ventricular Fibrillation, Paroxysmal Familial, 2 2
Ventricular Septal Defect 1 1
Ventricular Septal Defect 3 5
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 5
Very Long Chain Acyl-CoA Dehydrogenase Deficiency 4
Vesicoureteral Reflux 2 1
Vesicoureteral Reflux 3 1
Vesicoureteral Reflux 8 1
Vitamin D-Dependent Rickets, Type 1 3
Vitamin D-Dependent Rickets, Type 2 2
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 1
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2 2
Vitelliform Dystrophy 3
Vitreoretinochoroidopathy Dominant 3
Vitreoretinopathy, Neovascular Inflammatory 3
Vohwinkel syndrome 1
Von Hippel-Lindau Syndrome 3
Von Willebrand Disease, Recessive Form 2
Von Willebrand Disease, Type 1 3
Von Willebrand Disease, Type 2 2
Waardenburg Syndrome Type 1 2
Waardenburg Syndrome, Type 2A 3
Waardenburg Syndrome, Type 2D 2
Waardenburg Syndrome, Type 2E 2
Waardenburg Syndrome, Type 4A 3
Waardenburg Syndrome, Type 4B 3
Waardenburg Syndrome, Type 4C 2
Wagner Syndrome 3
Waisman Syndrome 1
Walker-Warburg Congenital Muscular Dystrophy 4
Walker-Warburg Congenital Muscular Dystrophy 1
Warburg Micro Syndrome 1 1
Warburg Micro Syndrome 2 1
Warburg Micro Syndrome 3 1
Warburg Micro Syndrome 4 1
Warts, Hypogammaglobulinemia, Infections, And Myelokathexis 1
Watson Syndrome 1
Weaver Syndrome 1
Weill-Marchesani Syndrome 1 1
Weill-Marchesani Syndrome 3 2
Weill-Marchesani-Like Syndrome 1
Weissenbacher-Zweymuller Syndrome 2
Welander distal myopathy 3
Werner Syndrome 2
Weyers Acrofacial Dysostosis 1
Wieacker-Wolff Syndrome 2
Wiedemann-Steiner Syndrome 3
Wilms' Tumor 8
Wilson's Disease 1
Wilson-Turner syndrome 2
Wiskott-Aldrich Syndrome 3
Witteveen-Kolk Syndrome 1
Wolcott-Rallison Dysplasia 1
Wolff-Parkinson-White Pattern 5
Wolfram Syndrome 2 4
Wolfram-Like Syndrome, Autosomal Dominant 3
Woodhouse-Sakati Syndrome 2
Wrinkly Skin Syndrome 1
X-Linked Agammaglobulinemia 1
X-Linked Hydrocephalus Syndrome 1
X-Linked Infantile Nystagmus 1
X-Linked Lissencephaly 2
X-Linked Lissencephaly 2 6
X-Linked Periventricular Heterotopia 3
X-Linked Recessive Nephrolithiasis With Renal Failure 1
X-Linked Severe Combined Immunodeficiency 1
X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance 3
Xanthinuria, Type I 2
Xanthinuria, Type II 1
Xerocytosis Gardos 1
Xerocytosis, Hereditary 2
Xeroderma Pigmentosum Type 7 2
Xeroderma Pigmentosum, Complementation Group B 2
Xeroderma Pigmentosum, Complementation Group C 2
Xeroderma Pigmentosum, Complementation Group D 2
Xeroderma Pigmentosum, Complementation Group E 2
Xeroderma Pigmentosum, Complementation Group F 2
Xeroderma Pigmentosum, Type 1 2
Xeroderma Pigmentosum, Variant Type 2
XFE Progeroid Syndrome 2
Young Simpson Syndrome 2
Zimmermann-Laband Syndrome 1 1