TESTS BY DISEASE
Tests Found: 5899
| Disease Name | Number of Tests Offered |
|---|---|
| 18 Hydroxylase Deficiency | 2 |
| 2,4-dienoyl-CoA reductase deficiency | 6 |
| 2-aminoadipic 2-oxoadipic aciduria | 3 |
| 2-Methyl-3-Hydroxybutyric Aciduria | 10 |
| 2-Methylbutyryl-CoA Dehydrogenase Deficiency | 5 |
| 3 Methylcrotonyl-CoA Carboxylase 1 Deficiency | 8 |
| 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of | 7 |
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | 10 |
| 3-M Syndrome | 2 |
| 3-Methylcrotonyl CoA Carboxylase 2 Deficiency | 10 |
| 3-Methylglutaconic Aciduria | 9 |
| 3-Methylglutaconic Aciduria Type 2 | 20 |
| 3-Methylglutaconic Aciduria Type 3 | 9 |
| 3-Methylglutaconic Aciduria Type V | 9 |
| 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome | 8 |
| 3-methylglutaconic aciduria, type IX | 6 |
| 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | 11 |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | 4 |
| 3-methylglutaconic aciduria, type VIII | 9 |
| 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency | 7 |
| 3MC syndrome 1 | 5 |
| 3MC syndrome 2 | 4 |
| 46, XX sex reversal 4 | 3 |
| 46,XX sex reversal 5 | 3 |
| 46,XX Sex Reversal, Type 1 | 8 |
| 46,XY Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy | 3 |
| 46,XY Sex Reversal 8 | 6 |
| 46,XY Sex Reversal, Type 1 | 5 |
| 46,XY Sex Reversal, Type 2 | 5 |
| 46,XY Sex Reversal, Type 3 | 6 |
| 46,XY Sex Reversal, Type 5 | 4 |
| 46,XY Sex Reversal, Type 6 | 8 |
| 46,XY Sex Reversal, Type 7 | 6 |
| 46XX sex reversal 2 | 2 |
| 46XY sex reversal 10 | 2 |
| 46XY Sex Reversal 9 | 7 |
| 5-oxoprolinase deficiency | 2 |
| 5Q- Syndrome | 1 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency | 5 |
| Aarskog Syndrome | 6 |
| ABCD Syndrome | 6 |
| Abdominal obesity-metabolic syndrome 3 | 3 |
| Ablepharon-macrostomia syndrome | 1 |
| Abnormal hair, joint laxity, and developmental delay | 1 |
| Abruzzo-Erickson syndrome | 3 |
| Acatalasemia | 1 |
| Aceruloplasminemia | 7 |
| Acetyl-CoA Acetyltransferase-2 Deficiency | 2 |
| Acetyl-CoA Carboxylase Deficiency | 1 |
| Acheiropody | 5 |
| Achondrogenesis Type 2 | 15 |
| Achondrogenesis, Type Ia | 5 |
| Achondrogenesis, Type Ib | 9 |
| Achondroplasia | 17 |
| Achromatopsia 2 | 5 |
| Achromatopsia 3 | 5 |
| Achromatopsia 4 | 5 |
| Achromatopsia 7 | 4 |
| Acne Inversa, Familial, 2 | 3 |
| Acne Inversa, Familial, 3 | 3 |
| Acquired Partial Lipodystrophy | 4 |
| Acrocallosal Syndrome, Schinzel Type | 20 |
| Acrocapitofemoral Dysplasia | 5 |
| Acrodermatitis Enteropathica | 5 |
| Acrodysostosis | 8 |
| Acrodysostosis 2, with or without Hormone Resistance | 7 |
| Acrofacial Dysostosis 1, Nager Type | 11 |
| Acrofacial dysostosis, Cincinnati type | 4 |
| Acrokeratosis Verruciformis Of Hopf | 1 |
| Acromelic frontonasal dysostosis | 4 |
| Acromesomelic Dysplasia Hunter Thompson Type | 7 |
| Acromesomelic Dysplasia Maroteaux Type | 5 |
| Acromicric Dysplasia | 15 |
| Acth Deficiency | 2 |
| ACTH Resistance | 3 |
| ACTH-independent macronodular adrenal hyperplasia | 3 |
| Acute Alcohol Sensitivity | 1 |
| Acute Intermittent Porphyria | 7 |
| Acute Lymphoblastic Leukemia | 9 |
| Adams-Oliver Syndrome 1 | 12 |
| Adams-Oliver Syndrome 2 | 12 |
| Adams-Oliver Syndrome 3 | 6 |
| Adams-Oliver Syndrome 4 | 10 |
| Adams-Oliver Syndrome 5 | 8 |
| Adams-Oliver Syndrome 6 | 8 |
| Adenine Phosphoribosyltransferase Deficiency | 3 |
| Adenomatous Polyposis Coli | 11 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes | 2 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To | 2 |
| Adenylosuccinate Lyase Deficiency | 10 |
| Adermatoglyphia | 1 |
| Adolescent Nephronophthisis | 11 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency | 3 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency | 7 |
| Adrenal Insufficiency, Congenital, With 46,XY Sex Reversal, Partial Or Complete | 8 |
| Adrenocortical Carcinoma, Hereditary | 13 |
| Adrenoleukodystrophy | 14 |
| Adult Hypophosphatasia | 12 |
| Adult Onset Ataxia With Oculomotor Apraxia | 9 |
| Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant | 4 |
| ADULT Syndrome | 10 |
| Advanced sleep-phase syndrome, familial, 2 | 1 |
| Afibrinogenemia | 3 |
| Afibrinogenemia, congenital | 12 |
| Agammaglobulinemia 1 | 5 |
| Agammaglobulinemia 10, autosomal dominant | 3 |
| Agammaglobulinemia 2, Autosomal Recessive | 5 |
| Agammaglobulinemia 3, Autosomal Recessive | 5 |
| Agammaglobulinemia 4, Autosomal Recessive | 5 |
| Agammaglobulinemia 5, Autosomal Dominant | 5 |
| Agammaglobulinemia 6, Autosomal Recessive | 6 |
| Agammaglobulinemia 7, Autosomal Recessive | 11 |
| Agammaglobulinemia 8, autosomal dominant | 5 |
| Agammaglobulinemia 8B, autosomal recessive | 1 |
| Agammaglobulinemia 9, autosomal recessive | 1 |
| AGAT Deficiency | 7 |
| Age-Related Macular Degeneration 1 | 7 |
| Age-Related Macular Degeneration 11 | 2 |
| Age-Related Macular Degeneration 4 | 8 |
| Age-Related Macular Degeneration 5 | 7 |
| Age-Related Macular Degeneration 6 | 3 |
| Age-Related Macular Degeneration 7 | 4 |
| Age-Related Macular Degeneration 9 | 4 |
| Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 6 |
| Agnathia-Otocephaly Complex | 4 |
| AICAR Transformylase/Imp Cyclohydrolase Deficiency | 2 |
| Aicardi-Goutieres Syndrome 1 | 13 |
| Aicardi-Goutieres Syndrome 2 | 11 |
| Aicardi-Goutieres Syndrome 3 | 11 |
| Aicardi-Goutieres Syndrome 4 | 11 |
| Aicardi-Goutieres Syndrome 5 | 11 |
| Aicardi-Goutieres Syndrome 6 | 8 |
| Aicardi-Goutieres Syndrome 7 | 12 |
| Aicardi-Goutieres syndrome 8 | 3 |
| Aicardi-Goutieres syndrome 9 | 3 |
| Al Kaissi syndrome | 1 |
| Al-Gazali syndrome | 5 |
| Al-Gazali-Bakalinova syndrome | 15 |
| Al-Raqad Syndrome | 1 |
| Alacrima, Achalasia, and Mental Retardation Syndrome | 5 |
| Alagille Syndrome 1 | 17 |
| Alagille Syndrome 2 | 15 |
| Aland Island Eye Disease | 6 |
| Alazami Syndrome | 3 |
| Alazami-Yuan Syndrome | 2 |
| Albinism, Ocular, With Sensorineural Deafness | 9 |
| Albinism, Oculocutaneous, Type VII | 4 |
| Alcohol Dependence | 2 |
| Alexander Disease | 8 |
| Alkaptonuria | 2 |
| Alkuraya-Kucinskas syndrome | 9 |
| Allan-Herndon-Dudley Syndrome | 8 |
| Alopecia-mental retardation syndrome 4 | 2 |
| Alpha Thalassemia | 7 |
| Alpha, Alpha-Trehalase Deficiency | 2 |
| Alpha-1-Antitrypsin Deficiency | 3 |
| Alpha-B Crystallinopathy | 7 |
| Alpha-Ketoglutarate Dehydrogenase Deficiency | 2 |
| Alpha-Methylacetoacetic Aciduria | 9 |
| Alpha-Methylacyl-CoA Racemase Deficiency | 9 |
| Alpha-Thalassemia Myelodysplasia Syndrome | 11 |
| Alpha/Beta T-Cell Lymphopenia With Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity | 4 |
| Alport syndrome 3B, autosomal recessive | 2 |
| Alport Syndrome, Autosomal Dominant | 7 |
| Alport Syndrome, Autosomal Recessive | 9 |
| Alport Syndrome, X-Linked Recessive | 7 |
| Alstrom Syndrome | 12 |
| Alternating Hemiplegia Of Childhood | 7 |
| Alternating Hemiplegia of Childhood 2 | 12 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins | 5 |
| Alzheimer's Disease | 12 |
| Alzheimer's Disease 9, Susceptibility to | 1 |
| Alzheimer's Disease, Type 2 | 5 |
| Alzheimer's Disease, Type 3 | 10 |
| Alzheimer's Disease, Type 4 | 9 |
| Amegakaryocytic thrombocytopenia, congenital, 2 | 2 |
| Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome | 3 |
| Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome | 1 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIa1 | 2 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIa2 | 2 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIa3 | 2 |
| Amelogenesis imperfecta, hypomaturation type, IIA4 | 2 |
| Amelogenesis Imperfecta, Hypomaturation Type, IIA6 | 1 |
| Amelogenesis Imperfecta, Type IA | 2 |
| Amelogenesis Imperfecta, Type Ib | 2 |
| Amelogenesis Imperfecta, Type Ic | 2 |
| Amelogenesis Imperfecta, Type Ie | 4 |
| Amelogenesis imperfecta, type IF | 1 |
| Amelogenesis Imperfecta, Type IG (Enamel-Renal Syndrome) | 3 |
| Amelogenesis Imperfecta, Type IH | 1 |
| Amelogenesis Imperfecta, Type IIA5 | 1 |
| Amelogenesis Imperfecta, Type III | 2 |
| Amelogenesis imperfecta, type IIIB | 1 |
| Amelogenesis imperfecta, type IIIC | 1 |
| Amelogenesis imperfecta, type IJ | 1 |
| Amelogenesis imperfecta, type IK | 1 |
| Amelogenesis Imperfecta, Type IV | 3 |
| Aminoacylase 1 Deficiency | 7 |
| Amish Infantile Epilepsy Syndrome | 5 |
| Amish Lethal Microcephaly | 5 |
| Aml - Acute Myeloid Leukemia | 32 |
| Amyloidogenic Transthyretin Amyloidosis | 12 |
| Amyloidosis, Finnish Type | 6 |
| Amyloidosis, hereditary systemic 3 | 1 |
| Amyloidosis, hereditary systemic 5 | 1 |
| Amyloidosis, hereditary systemic 6 | 2 |
| Amyotrophic Lateral Sclerosis 16, Juvenile | 6 |
| Amyotrophic lateral sclerosis 19 | 1 |
| Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia | 3 |
| Amyotrophic lateral sclerosis 27, juvenile | 3 |
| Amyotrophic lateral sclerosis 5, juvenile | 7 |
| Amyotrophic Lateral Sclerosis Type 1 | 6 |
| Amyotrophic Lateral Sclerosis Type 10 | 6 |
| Amyotrophic Lateral Sclerosis Type 11 | 10 |
| Amyotrophic Lateral Sclerosis Type 12 | 5 |
| Amyotrophic Lateral Sclerosis Type 14 | 7 |
| Amyotrophic Lateral Sclerosis Type 15 | 5 |
| Amyotrophic Lateral Sclerosis Type 17 | 5 |
| Amyotrophic Lateral Sclerosis Type 18 | 4 |
| Amyotrophic Lateral Sclerosis Type 2 | 6 |
| Amyotrophic Lateral Sclerosis Type 20 | 3 |
| Amyotrophic Lateral Sclerosis Type 4 | 6 |
| Amyotrophic Lateral Sclerosis Type 6 | 5 |
| Amyotrophic Lateral Sclerosis Type 8 | 5 |
| Amyotrophic Lateral Sclerosis Type 9 | 2 |
| Amyotrophic lateral sclerosis, susceptibility to, 24 | 10 |
| Amyotrophic Lateral Sclerosis, Susceptibility to, 25 | 5 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 | 1 |
| Amytrophic Lateral Sclerosis 23 | 3 |
| Analbuminemia | 1 |
| Anauxetic Dysplasia | 7 |
| Anauxetic dysplasia 2 | 2 |
| Anauxetic dysplasia 3 | 3 |
| Andermann Syndrome | 6 |
| Andersen Tawil Syndrome | 10 |
| Androgen Resistance Syndrome | 8 |
| Anemia Sideroblastic And Spinocerebellar Ataxia | 6 |
| Anemia, congenital dyserythropoietic, type IIIA | 1 |
| Anemia, congenital dyserythropoietic, type IVb | 2 |
| Anemia, Hypochromic Microcytic, With Iron Overload | 1 |
| Anemia, hypochromic microcytic, with iron overload 2 | 1 |
| Anemia, neonatal hemolytic, fatal or near-fatal | 1 |
| Anemia, sideroblastic, 3, pyridoxine-refractory | 6 |
| Anemia, sideroblastic, 4 | 4 |
| Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive | 4 |
| Angelman Syndrome | 10 |
| Angioedema, hereditary, 4 | 1 |
| Angioedema, hereditary, 5 | 1 |
| Angioedema, Hereditary, Type III | 1 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps | 12 |
| Anhidrosis, isolated, with normal sweat glands | 1 |
| Aniridia 2 | 7 |
| Aniridia, Cerebellar Ataxia, And Mental Retardation | 6 |
| Anterior segment dysgenesis 6, multiple subtypes | 2 |
| Anterior segment dysgenesis 8 | 3 |
| Anterior Segment Mesenchymal Dysgenesis | 9 |
| Anti-Plasmin Deficiency, Congenital | 3 |
| Antithrombin III Deficiency | 3 |
| Antley-Bixler Syndrome | 14 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis | 12 |
| Aortic Aneurysm, Familial Thoracic 10 | 6 |
| Aortic Aneurysm, Familial Thoracic 11, susceptibility to | 7 |
| Aortic Aneurysm, Familial Thoracic 4 | 9 |
| Aortic Aneurysm, Familial Thoracic 6 | 8 |
| Aortic Aneurysm, Familial Thoracic 7 | 7 |
| Aortic Aneurysm, Familial Thoracic 8 | 6 |
| Aortic Aneurysm, Familial Thoracic 9 | 4 |
| Aortic valve disease 2 | 3 |
| Aortic valve disease 8 | 2 |
| Aortic Valve Disorder | 6 |
| Apert Syndrome | 16 |
| Aphakia, Congenital Primary | 12 |
| Aplasia cutis congenita, nonsyndromic | 1 |
| Aplasia Of Lacrimal And Salivary Glands | 3 |
| Aplastic Anemia | 17 |
| ApoA-I and apoC-III deficiency, combined | 6 |
| Apolipoprotein C2 Deficiency | 2 |
| Apparent Mineralocorticoid Excess | 4 |
| Arginase Deficiency | 11 |
| Argininosuccinate Lyase Deficiency | 6 |
| Aromatase Deficiency | 4 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 1 | 12 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 10 | 8 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 11 | 8 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 12 | 10 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 2 | 10 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 | 8 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 8 | 11 |
| Arrhythmogenic Right Ventricular Cardiomyopathy, Type 9 | 9 |
| Arrhythmogenic right ventricular dysplasia, familial, 13 | 5 |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | 5 |
| Arterial Calcification Of Infancy | 11 |
| Arterial Calcification, Generalized, of Infancy, 2 | 10 |
| Arterial Tortuosity Syndrome | 9 |
| Arteriovenous Malformations Of The Brain | 13 |
| Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 4 |
| Arthrogryposis multiplex congenita 5 | 2 |
| Arthrogryposis multiplex congenita 6 | 1 |
| Arthrogryposis Multiplex Congenita Distal Type 1 | 6 |
| Arthrogryposis Multiplex Congenita, Distal, X-Linked | 3 |
| Arthrogryposis multiplex congenita, myogenic type | 2 |
| Arthrogryposis multiplex congenita, neurogenic type | 1 |
| Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 3 |
| Arthrogryposis Renal Dysfunction Cholestasis Syndrome | 6 |
| Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | 3 |
| Arthrogryposis, distal, type 11 | 2 |
| Arthrogryposis, Distal, Type 1B | 5 |
| Arthrogryposis, distal, type 1C | 1 |
| Arthrogryposis, Distal, Type 2B | 12 |
| Arthrogryposis, distal, type 2B2 | 3 |
| Arthrogryposis, distal, type 2B3 (Sheldon-Hall) | 6 |
| Arthrogryposis, Distal, Type 3 | 6 |
| Arthrogryposis, Distal, Type 5 | 6 |
| Arthrogryposis, distal, type 5D | 6 |
| Arthrogryposis, Distal, Type 7 | 5 |
| Arthrogryposis, Distal, Type 8 | 9 |
| Arthrogryposis, Distal, with Impaired Proprioception and Touch | 4 |
| Arthrogryposis, Mental Retardation, and Seizures | 2 |
| Arthrogryposis, Perthes disease, and upward gaze palsy | 3 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 | 6 |
| Arts Syndrome | 7 |
| Asparagine synthetase deficiency | 5 |
| Aspartylglycosaminuria | 7 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 | 3 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 | 5 |
| Aspergillosis, Susceptibility To | 2 |
| Asplenia, isolated congenital | 4 |
| Asthma, Nasal Polyps, And Aspirin Intolerance | 3 |
| Ataxia With Vitamin E Deficiency | 4 |
| Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 4 |
| Ataxia, sensory, 1, autosomal dominant | 2 |
| Ataxia-Oculomotor Apraxia 3 | 3 |
| Ataxia-oculomotor apraxia 4 | 5 |
| Ataxia-Pancytopenia Syndrome | 8 |
| Ataxia-Telangiectasia Syndrome | 20 |
| Ataxia-Telangiectasia-Like Disorder | 12 |
| Ataxia-telangiectasia-like disorder 2 | 1 |
| Ateleiotic Dwarfism | 1 |
| Atelosteogenesis, type I | 6 |
| Atelosteogenesis, Type II | 10 |
| Atelosteogenesis, type III | 6 |
| Athabaskan Brainstem Dysgenesis | 5 |
| ATR-X Syndrome | 17 |
| Atransferrinemia | 1 |
| Atrial fibrillation 15 | 4 |
| Atrial Fibrillation, Familial, 10 | 7 |
| Atrial Fibrillation, Familial, 11 | 6 |
| Atrial Fibrillation, Familial, 12 | 9 |
| Atrial Fibrillation, Familial, 13 | 8 |
| Atrial Fibrillation, Familial, 14 | 6 |
| Atrial Fibrillation, Familial, 18 | 5 |
| Atrial Fibrillation, Familial, 3 | 7 |
| Atrial Fibrillation, Familial, 4 | 6 |
| Atrial Fibrillation, Familial, 6 | 6 |
| Atrial Fibrillation, Familial, 7 | 6 |
| Atrial Fibrillation, Familial, 9 | 8 |
| Atrial Myxoma, Familial | 9 |
| Atrial Septal Defect 2 | 10 |
| Atrial Septal Defect 3 | 8 |
| Atrial Septal Defect 4 | 5 |
| Atrial Septal Defect 5 | 7 |
| Atrial Septal Defect 6 | 2 |
| Atrial septal defect 8 | 2 |
| Atrial septal defect 9 | 7 |
| Atrial Septal Defect With Atrioventricular Conduction Defects | 12 |
| Atrial standstill 2 | 2 |
| Atrial standstill, digenic (GJA5/SCN5A) | 2 |
| Atrioventricular Septal Defect | 11 |
| Atrioventricular Septal Defect 2 | 6 |
| Atrioventricular Septal Defect 4 | 10 |
| Atrioventricular septal defect 5 | 7 |
| Attention Deficit-Hyperactivity Disorder | 1 |
| Attention deficit-hyperactivity disorder 8 | 1 |
| Atypical Hemolytic-Uremic Syndrome 1 | 7 |
| Atypical Hemolytic-Uremic Syndrome 2 | 3 |
| Atypical Hemolytic-Uremic Syndrome 3 | 3 |
| Atypical Hemolytic-Uremic Syndrome 4 | 5 |
| Atypical Hemolytic-Uremic Syndrome 5 | 5 |
| Atypical Hemolytic-Uremic Syndrome 6 | 5 |
| Atypical Mycobacteriosis, Familial | 4 |
| Atypical Mycobacteriosis, Familial, X-Linked 2 | 7 |
| Au-Kline syndrome | 5 |
| Auditory neuropathy and optic atrophy | 7 |
| Auditory neuropathy, autosomal dominant 2 | 1 |
| Auditory neuropathy, autosomal dominant 3 | 1 |
| Auditory neuropathy, autosomal dominant, 1 | 1 |
| Aural atresia, congenital | 1 |
| Auriculocondylar syndrome 1 | 3 |
| Auriculocondylar syndrome 2 | 4 |
| Auriculocondylar syndrome 2B | 1 |
| Auriculocondylar syndrome 3 | 2 |
| Autism 10 | 1 |
| Autism 15 | 5 |
| Autism 17 | 1 |
| Autism Susceptibility 1 | 3 |
| Autism, Susceptibility to, 18 | 6 |
| Autism, Susceptibility To, X-Linked 1 | 3 |
| Autism, Susceptibility To, X-Linked 2 | 5 |
| Autism, Susceptibility To, X-Linked 3 | 7 |
| Autism, Susceptibility to, X-linked 4 | 3 |
| Autism, Susceptibility To, X-Linked 5 | 4 |
| Autism, Susceptibility to, X-linked 6 | 2 |
| Autoimmune Disease 6 | 2 |
| Autoimmune disease with susceptibility to mycobacterium tuberculosis | 1 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 | 10 |
| Autoimmune disease, multisystem, infantile-onset, 2 | 4 |
| Autoimmune Disease, Syndromic Multisystem | 5 |
| Autoimmune interstitial lung, joint, and kidney disease | 4 |
| Autoimmune Lymphoproliferative Syndrome | 7 |
| Autoimmune Lymphoproliferative Syndrome, Type 2 | 5 |
| Autoimmune Lymphoproliferative Syndrome, Type III | 6 |
| Autoimmune Lymphoproliferative Syndrome, Type V | 6 |
| Autoimmune Thyroid Disease 3 | 1 |
| Autoinflammation with arthritis and dyskeratosis | 3 |
| Autoinflammation with arthritis and vasculitis | 2 |
| Autoinflammation with episodic fever and lymphadenopathy | 5 |
| Autoinflammation with Infantile Enterocolitis | 6 |
| Autoinflammation with pulmonary and cutaneous vasculitis | 1 |
| Autoinflammation, antibody deficiency, and immune dysregulation syndrome | 6 |
| Autoinflammation, immune dysregulation, and eosinophilia | 3 |
| Autoinflammation, panniculitis, and dermatosis syndrome | 3 |
| Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant | 1 |
| Autoinflammatory disease, multisystem, with immune dysregulation, X-linked | 2 |
| Autoinflammatory disease, systemic, X-linked | 3 |
| Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia | 1 |
| Autoinflammatory Syndrome, Familial, Behcet-like | 5 |
| Autoinflammatory syndrome, familial, with or without immunodeficiency | 3 |
| Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 | 3 |
| Autoinflammatory-pancytopenia syndrome | 2 |
| Autosomal Dominant Isolated Somatotropin Deficiency | 1 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy, Type 1E | 6 |
| Autosomal Recessive Centronuclear Myopathy | 4 |
| Autosomal Recessive Cutis Laxa Type 3A | 11 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome | 3 |
| Autosomal Recessive Hypophosphatemic Bone Disease | 7 |
| Avascular Necrosis Of Femoral Head, Primary | 14 |
| Avascular necrosis of femoral head, primary, 2 | 5 |
| Avellino Corneal Dystrophy | 2 |
| Axenfeld-Rieger Syndrome Type 3 | 12 |
| Axenfeld-Rieger syndrome, type 1 | 15 |
| Ayme-Gripp Syndrome | 8 |
| Azorean Disease | 1 |
| B-cell expansion with NFKB and T-cell anergy | 7 |
| B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | 2 |
| Bacteremia, Susceptibility To, 1 | 3 |
| Bainbridge-Ropers Syndrome | 6 |
| Baker-Gordon syndrome | 4 |
| Baller-Gerold Syndrome | 15 |
| Bamforth Syndrome | 2 |
| Band Heterotopia | 5 |
| Bannayan-Riley-Ruvalcaba Syndrome | 8 |
| Baraitser-Winter Syndrome 1 | 16 |
| Baraitser-Winter Syndrome 2 | 8 |
| Barakat Syndrome | 7 |
| Barber-Say Syndrome | 3 |
| Bardet-Biedl Syndrome 1 | 17 |
| Bardet-Biedl Syndrome 10 | 16 |
| Bardet-Biedl Syndrome 11 | 17 |
| Bardet-Biedl Syndrome 12 | 16 |
| Bardet-Biedl Syndrome 13 | 17 |
| Bardet-Biedl Syndrome 14 | 16 |
| Bardet-Biedl Syndrome 15 | 11 |
| Bardet-Biedl Syndrome 16 | 15 |
| Bardet-Biedl Syndrome 17 | 12 |
| Bardet-Biedl Syndrome 18 | 11 |
| Bardet-Biedl Syndrome 19 | 13 |
| Bardet-Biedl Syndrome 2 | 15 |
| Bardet-Biedl Syndrome 20 | 10 |
| Bardet-Biedl syndrome 20 | 7 |
| Bardet-Biedl Syndrome 21 | 11 |
| Bardet-Biedl Syndrome 3 | 16 |
| Bardet-Biedl Syndrome 4 | 16 |
| Bardet-Biedl Syndrome 5 | 17 |
| Bardet-Biedl Syndrome 6 | 19 |
| Bardet-Biedl Syndrome 7 | 16 |
| Bardet-Biedl Syndrome 8 | 15 |
| Bardet-Biedl Syndrome 9 | 16 |
| Bare Lymphocyte Syndrome, Type I | 3 |
| Barrett Esophagus | 4 |
| Bartter Syndrome Antenatal Type 1 | 6 |
| Bartter Syndrome Antenatal Type 2 | 5 |
| Bartter Syndrome Type 4 | 6 |
| Bartter syndrome, type 5, antenatal, transient | 2 |
| Basal cell carcinoma 7 | 13 |
| Basal Cell Carcinoma, Multiple | 13 |
| Basal cell nevus syndrome 2 | 6 |
| Basal Ganglia Calcification, Idiopathic, 1 | 3 |
| Basal Ganglia Calcification, Idiopathic, 4 | 8 |
| Basal Ganglia Calcification, Idiopathic, 5 | 5 |
| Basal Ganglia Calcification, Idiopathic, 6 | 4 |
| Basal ganglia cancification, idiopathic, 7, autosomal recessive | 2 |
| Basal Ganglia Disease, Biotin-Responsive | 12 |
| Basal Laminar Drusen | 7 |
| Basan syndrome | 2 |
| Basel-Vanagait-Smirin-Yosef Syndrome | 1 |
| Basilicata-Akhtar syndrome | 2 |
| Beck-Fahrner syndrome | 1 |
| Becker Muscular Dystrophy | 8 |
| Becker nevus, syndromic or isolated, somatic mosaic | 5 |
| Beckwith-Wiedemann Syndrome | 19 |
| Behr Syndrome | 9 |
| Benign Familial Hematuria | 5 |
| Benign Familial Neonatal Seizures 1 | 7 |
| Benign Familial Neonatal-Infantile Seizures | 9 |
| Benign Hereditary Chorea | 3 |
| Benign Recurrent Intrahepatic Cholestasis 1 | 5 |
| Benign Recurrent Intrahepatic Cholestasis 2 | 4 |
| Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy | 12 |
| Bent bone dysplasia syndrome | 15 |
| Bent bone dysplasia syndrome 2 | 1 |
| Bernard Soulier Syndrome | 11 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant | 8 |
| Bestrophinopathy, Autosomal Recessive | 9 |
| Beta Thalassemia, Dominant Inclusion Body Type | 1 |
| Beta-D-Mannosidosis | 7 |
| Beta-Hydroxyisobutyryl-CoA Deacylase Deficiency | 7 |
| Beta-Ureidopropionase Deficiency | 4 |
| Bethlem Myopathy | 7 |
| Bethlem Myopathy | 14 |
| Bethlem Myopathy 2 | 9 |
| BH4-Deficient Hyperphenylalaninemia D | 5 |
| Bietti Crystalline Corneoretinal Dystrophy | 4 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies | 9 |
| Bile acid conjugation defect 1 | 1 |
| Bile Acid Malabsorption, Primary | 5 |
| Bile Acid Synthesis Defect, Congenital, 1 | 5 |
| Bile Acid Synthesis Defect, Congenital, 2 | 4 |
| Bile Acid Synthesis Defect, Congenital, 3 | 6 |
| Bile Acid Synthesis Defect, Congenital, 4 | 9 |
| Bile Acid Synthesis Defect, Congenital, 5 | 3 |
| Bile acid synthesis defect, congenital, 6 | 3 |
| Bilirubin, Serum Level Of, Quantitative Trait Locus 1 | 3 |
| Birk Barel Mental Retardation Dysmorphism Syndrome | 1 |
| Birk-Landau-Perez syndrome | 2 |
| Birt-Hogg-Dube Syndrome | 6 |
| Bjornstad Syndrome | 7 |
| Bladder Cancer | 23 |
| Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT | 1 |
| 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 | 4 |
| Bleeding disorder, platelet-type, 16, autosomal dominant | 7 |
| Bleeding Disorder, Platelet-Type, 17 | 4 |
| Bleeding Disorder, Platelet-Type, 18 | 1 |
| Bleeding Disorder, Platelet-Type, 19 | 4 |
| Bleeding disorder, platelet-type, 20 | 1 |
| Bleeding Disorder, Platelet-Type, 21 | 3 |
| Bleeding disorder, platelet-type, 22 | 2 |
| Bleeding disorder, platelet-type, 24, autosomal dominant | 3 |
| Bleeding Disorder, Platelet-Type, 8 | 5 |
| Bleeding Disorder, Platelet-Type, 9 | 2 |
| Blepharocheilodontic syndrome 1 | 10 |
| Blepharocheilodontic syndrome 2 | 3 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus | 8 |
| Blepharophimosis-impaired intellectual development syndrome | 4 |
| Blepharospasm | 1 |
| Blood Group, Cromer System | 3 |
| Blood Group--Diego System | 2 |
| Blood Group--Froese | 2 |
| Blood Group--I System | 2 |
| Blood Group--Lutheran Inhibitor | 4 |
| Blood Group--Ok | 1 |
| Blood Group--Swann System | 2 |
| Blood Group--Waldner Type | 2 |
| Blood Group--Wright Antigen | 2 |
| Bloom Syndrome | 11 |
| Body Mass Index Quantitative Trait Locus 12 | 7 |
| Body Mass Index Quantitative Trait Locus 4 | 2 |
| Body Mass Index Quantitative Trait Locus 9 | 1 |
| Bohring-Opitz Syndrome | 8 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness | 5 |
| Bone Marrow Failure Syndrome 1 | 8 |
| Bone Marrow Failure Syndrome 2 | 4 |
| Bone Marrow Failure Syndrome 3 | 9 |
| Bone marrow failure syndrome 4 | 3 |
| Bone marrow failure syndrome 5 | 12 |
| Bone Mineral Density QTL18, Osteoporosis | 7 |
| Bone Mineral Density Quantitative Trait Locus 1 | 8 |
| Boomerang Dysplasia | 6 |
| Borjeson-Forssman-Lehmann Syndrome | 11 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 6 |
| Bosma arhinia microphthalmia syndrome | 5 |
| Bothnia Retinal Dystrophy | 7 |
| Boucher-Neuhauser syndrome | 4 |
| Boudin-Mortier syndrome | 1 |
| Bowen-Conradi Syndrome | 3 |
| Brachycephaly, trichomegaly, and developmental delay | 1 |
| Brachydactyly Type A1 | 6 |
| Brachydactyly Type A2 | 10 |
| Brachydactyly Type C | 8 |
| Brachydactyly, type A1, C | 7 |
| Brachydactyly, Type A1, D | 4 |
| Brachydactyly, Type B1 | 7 |
| Brachydactyly, Type B2 | 7 |
| Brachydactyly, Type D | 8 |
| Brachydactyly, Type E1 | 8 |
| Brachydactyly, Type E2 | 3 |
| Brachydactyly-Syndactyly Syndrome | 8 |
| Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes | 6 |
| Brachyolmia Type 3 | 6 |
| Brain abnormalities, neurodegeneration, and dysosteosclerosis | 6 |
| Brain malformations with or without urinary tract defects | 4 |
| Brain small vessel disease 3 | 6 |
| Brain Small Vessel Disease With Hemorrhage | 3 |
| Branched-chain ketoacid dehydrogenase kinase deficiency | 5 |
| Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | 5 |
| Branchiooculofacial Syndrome | 8 |
| Branchiootic syndrome 1 | 10 |
| Branchiootic Syndrome 3 | 7 |
| Branchiootorenal Syndrome 1, with or without Cataracts | 10 |
| Branchiootorenal Syndrome 2 | 7 |
| Breast-Ovarian Cancer, Familial 1 | 19 |
| Breast-Ovarian Cancer, Familial 2 | 26 |
| Breast-Ovarian Cancer, Familial 3 | 13 |
| Breast-Ovarian Cancer, Familial 4 | 10 |
| Brittle Cornea Syndrome 1 | 7 |
| Brittle Cornea Syndrome 2 | 8 |
| Brody Myopathy | 2 |
| Bronchiectasis | 9 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 2 | 2 |
| Bronchiectasis With Or Without Elevated Sweat Chloride 3 | 2 |
| Brown-Vialetto-Van Laere Syndrome | 10 |
| Brown-Vialetto-Van Laere syndrome 2 | 14 |
| Bruck syndrome 1 | 5 |
| Bruck Syndrome 2 | 8 |
| Brugada Syndrome 1 | 8 |
| Brugada Syndrome 2 | 7 |
| Brugada Syndrome 3 | 13 |
| Brugada Syndrome 4 | 8 |
| Brugada Syndrome 5 | 9 |
| Brugada Syndrome 6 | 6 |
| Brugada Syndrome 7 | 6 |
| Brugada Syndrome 8 | 10 |
| Brugada Syndrome 9 | 8 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 1 | 2 |
| Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 2 |
| Budd-Chiari Syndrome | 5 |
| Bulbo-Spinal Atrophy X-Linked | 4 |
| Burn-McKeown Syndrome | 2 |
| Butyrylcholinesterase Deficiency | 1 |
| C Syndrome | 1 |
| C1q Deficiency | 3 |
| C1q deficiency 2 | 1 |
| C1q deficiency 3 | 1 |
| Caffey Disease | 11 |
| Calcification Of Joints And Arteries | 2 |
| Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia | 3 |
| Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome | 3 |
| Camptodactyly, Tall Stature, And Hearing Loss Syndrome | 17 |
| Camptomelic Dysplasia | 14 |
| Camptosynpolydactyly, Complex | 7 |
| Camurati-Engelmann Disease | 9 |
| Candidiasis, Familial, 2 | 4 |
| Candidiasis, Familial, 4 | 2 |
| Candidiasis, Familial, 5 | 3 |
| Candidiasis, Familial, 6 | 3 |
| Candidiasis, Familial, 7 | 6 |
| Candidiasis, familial, 8 | 2 |
| Candidiasis, familial, 9 | 3 |
| Capillary Malformation-Arteriovenous Malformation | 4 |
| Capillary malformation-arteriovenous malformation 2 | 4 |
| Capillary malformations, congenital, 1, somatic, mosaic | 1 |
| CAPOS syndrome | 11 |
| CARASIL Syndrome | 10 |
| Carbohydrate-Deficient Glycoprotein Syndrome Type II | 4 |
| Carcinoid Tumors, Intestinal | 4 |
| Cardiac Conduction Disease with or without Dilated Cardiomyopathy | 6 |
| Cardiac valvular defect, developmental | 3 |
| Cardiac Valvular Dysplasia, X-Linked | 18 |
| Cardiac, facial, and digital anomalies with developmental delay | 3 |
| Cardiac-urogenital syndrome | 6 |
| Cardio-Facio-Cutaneous Syndrome | 11 |
| Cardioacrofacial dysplasia 1 | 1 |
| Cardioacrofacial dysplasia 2 | 1 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 1 | 14 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 2 | 9 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 3 | 4 |
| Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency 4 | 4 |
| Cardiofaciocutaneous syndrome 2 | 18 |
| Cardiofaciocutaneous syndrome 3 | 10 |
| Cardiofaciocutaneous syndrome 4 | 9 |
| Cardiomyopathy Dilated With Woolly Hair And Keratoderma | 8 |
| Cardiomyopathy, Dilated, 1gg | 10 |
| Cardiomyopathy, Dilated, 1Hh | 7 |
| Cardiomyopathy, dilated, 1II | 6 |
| Cardiomyopathy, dilated, 1JJ | 5 |
| Cardiomyopathy, Dilated, 1KK | 8 |
| Cardiomyopathy, dilated, 1NN | 7 |
| Cardiomyopathy, Dilated, 1U | 3 |
| Cardiomyopathy, Dilated, 1V | 3 |
| Cardiomyopathy, Dilated, 2B | 4 |
| Cardiomyopathy, dilated, 2C | 6 |
| Cardiomyopathy, dilated, 2E | 1 |
| Cardiomyopathy, dilated, 2F | 3 |
| Cardiomyopathy, dilated, 2G | 3 |
| Cardiomyopathy, Dilated, 3B | 9 |
| Cardiomyopathy, familial hypertrophic | 3 |
| Cardiomyopathy, familial hypertrophic 27 | 6 |
| Cardiomyopathy, Familial Hypertrophic, 17 | 6 |
| Cardiomyopathy, Familial Hypertrophic, 19 | 1 |
| Cardiomyopathy, familial hypertrophic, 28 | 4 |
| Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | 3 |
| Cardiomyopathy, familial restrictive 5 | 8 |
| Cardiomyopathy, Familial Restrictive, 1 | 4 |
| Cardiomyopathy, Familial Restrictive, 3 | 3 |
| Cardiospondylocarpofacial Syndrome | 2 |
| Carey-Fineman-Ziter syndrome | 1 |
| Carney Complex Variant | 4 |
| Carney Complex, Type 1 | 9 |
| Carnitine Palmitoyltransferase I Deficiency | 9 |
| Carnitine Palmitoyltransferase II Deficiency, Infantile | 14 |
| Carnitine Palmitoyltransferase II Deficiency, Late-Onset | 14 |
| Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal | 14 |
| Carnitine-Acylcarnitine Translocase Deficiency | 10 |
| Carotid Intimal Medial Thickness 1 | 1 |
| Carpal Tunnel Syndrome | 6 |
| Carpal tunnel syndrome 2 | 2 |
| Carpenter Syndrome | 6 |
| Carpenter Syndrome 2 | 4 |
| Caspase-8 Deficiency | 5 |
| Cataract 10 | 5 |
| Cataract 11 | 7 |
| Cataract 12 | 4 |
| Cataract 13 | 4 |
| Cataract 14 | 5 |
| Cataract 15 | 5 |
| Cataract 16 | 6 |
| Cataract 17 | 5 |
| Cataract 18 | 4 |
| Cataract 19 | 5 |
| Cataract 2 | 5 |
| Cataract 20 | 4 |
| Cataract 21 | 9 |
| Cataract 22 | 5 |
| Cataract 23 | 6 |
| Cataract 3 | 5 |
| Cataract 30 | 4 |
| Cataract 31 | 5 |
| Cataract 33 | 5 |
| Cataract 34, multiple types | 9 |
| Cataract 36 | 4 |
| Cataract 38 | 11 |
| Cataract 39 | 5 |
| Cataract 4 | 4 |
| Cataract 41 | 8 |
| Cataract 42 | 2 |
| Cataract 43 | 2 |
| Cataract 44 | 3 |
| Cataract 45 | 3 |
| Cataract 46, juvenile-onset | 1 |
| Cataract 47 | 4 |
| Cataract 5 | 4 |
| Cataract 50 with or without glaucoma | 1 |
| Cataract 6 | 5 |
| Cataract 9 | 5 |
| Cataract, Congenital, X-Linked | 10 |
| Cataract, Zonular Pulverulent 1 | 6 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia | 6 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 | 3 |
| Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | 3 |
| Cataracts, spastic paraparesis, and speech delay | 3 |
| Catecholaminergic Polymorphic Ventricular Tachycardia, 1 | 9 |
| Catecholaminergic Polymorphic Ventricular Tachycardia, 4 | 6 |
| Catecholaminergic Polymorphic Ventricular Tachycardia, 5, with or without Muscle Weakness | 7 |
| Catel-Manzke Syndrome | 4 |
| CATSPER-Related Male Infertility | 4 |
| Caudal Duplication Anomaly | 1 |
| Cd59 Deficiency | 6 |
| Cd8 Deficiency, Familial | 3 |
| CEBALID syndrome | 2 |
| Celiac Disease 3 | 4 |
| Central areolar choroidal dystrophy 1 | 2 |
| Central Core Disease | 7 |
| Central hypoventilation syndrome, congenital, 3 | 1 |
| Central Precocious Puberty | 2 |
| Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency | 7 |
| Centronuclear myopathy 5 | 3 |
| Centronuclear myopathy 6 with fiber-type disproportion | 3 |
| Cerebellar ataxia and hypogonadotropic hypogonadism | 2 |
| Cerebellar Ataxia, Cayman Type | 1 |
| Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 4 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | 3 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 | 1 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 3 |
| Cerebellar ataxia, nonprogressive, with mental retardation | 2 |
| Cerebellar atrophy with seizures and variable developmental delay | 3 |
| Cerebellar atrophy, developmental delay, and seizures | 6 |
| Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation | 7 |
| Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay | 1 |
| Cerebellar, ocular, craniofacial, and genital syndrome | 3 |
| Cerebral Amyloid Angiopathy, App-Related | 4 |
| Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 2 | 9 |
| Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy | 10 |
| Cerebral Cavernous Malformations 1 | 7 |
| Cerebral Cavernous Malformations 2 | 7 |
| Cerebral Cavernous Malformations 3 | 4 |
| Cerebral cavernous malformations 4, somatic | 2 |
| Cerebral Creatine Deficiency Syndrome 1 | 6 |
| Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome | 4 |
| Cerebral Folate Deficiency | 10 |
| Cerebral Palsy, Spastic Quadriplegic, 1 | 5 |
| Cerebral Palsy, Spastic Quadriplegic, 2 | 4 |
| Cerebral palsy, spastic quadriplegic, 3 | 2 |
| Cerebro-Oculo-Facio-Skeletal Syndrome | 8 |
| Cerebrocostomandibular syndrome | 1 |
| Cerebrooculofacioskeletal Syndrome 2 | 10 |
| Cerebrooculofacioskeletal syndrome 3 | 9 |
| Cerebrooculofacioskeletal Syndrome 4 | 8 |
| Cerebroretinal Microangiopathy with Calcifications and Cysts | 14 |
| Cerebroretinal microangiopathy with calcifications and cysts 2 | 7 |
| Cerebroretinal microangiopathy with calcifications and cysts 3 | 5 |
| Cerebrotendinous Xanthomatosis | 17 |
| Ceroid Lipofuscinosis Neuronal 1 | 12 |
| Ceroid Lipofuscinosis Neuronal 10 | 10 |
| Ceroid Lipofuscinosis Neuronal 11 | 10 |
| Ceroid Lipofuscinosis Neuronal 12 | 10 |
| Ceroid Lipofuscinosis Neuronal 13 | 8 |
| Ceroid Lipofuscinosis Neuronal 14 | 10 |
| Ceroid Lipofuscinosis Neuronal 2 | 12 |
| Ceroid Lipofuscinosis Neuronal 3 | 10 |
| Ceroid Lipofuscinosis Neuronal 4A, Autosomal Recessive | 8 |
| Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant | 9 |
| Ceroid Lipofuscinosis Neuronal 5 | 9 |
| Ceroid Lipofuscinosis Neuronal 6 | 9 |
| Ceroid Lipofuscinosis Neuronal 7 | 11 |
| Ceroid Lipofuscinosis Neuronal 8 | 10 |
| Ceroid Lipofuscinosis Neuronal 8, Northern Epilepsy Variant | 9 |
| Cervical Cancer | 11 |
| Chanarin-Dorfman Syndrome | 7 |
| CHAND syndrome | 4 |
| Char Syndrome | 6 |
| Charcot-Marie-Tooth Disease Dominant Intermediate 3 | 6 |
| Charcot-Marie-Tooth Disease Type 2B | 6 |
| Charcot-Marie-Tooth Disease Type 2B1 | 13 |
| Charcot-Marie-Tooth Disease Type 2B2 | 6 |
| Charcot-Marie-Tooth Disease Type 2C | 12 |
| Charcot-Marie-Tooth Disease Type 2D | 8 |
| Charcot-Marie-Tooth Disease Type 2E | 6 |
| Charcot-Marie-Tooth Disease Type 2F | 7 |
| Charcot-Marie-Tooth Disease Type 2I | 7 |
| Charcot-Marie-Tooth Disease Type 2J | 7 |
| Charcot-Marie-Tooth Disease Type 2K | 5 |
| Charcot-Marie-Tooth disease, axonal, type 2A2B | 7 |
| Charcot-Marie-Tooth disease, axonal, type 2CC | 3 |
| Charcot-Marie-Tooth disease, axonal, type 2DD | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 8 |
| Charcot-Marie-Tooth disease, axonal, type 2FF | 1 |
| Charcot-Marie-Tooth disease, axonal, type 2GG | 1 |
| Charcot-Marie-Tooth disease, axonal, type 2HH | 5 |
| Charcot-Marie-Tooth disease, axonal, type 2II | 2 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2O | 12 |
| Charcot-Marie-Tooth disease, axonal, type 2T | 3 |
| Charcot-Marie-Tooth disease, axonal, type 2V | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2W | 6 |
| Charcot-Marie-Tooth disease, axonal, type 2X | 7 |
| Charcot-Marie-Tooth disease, axonal, type 2Z | 5 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive | 5 |
| Charcot-Marie-Tooth disease, demyelinating, type 1G | 2 |
| Charcot-Marie-Tooth disease, demyelinating, type 1H | 1 |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | 2 |
| Charcot-Marie-Tooth disease, demyelinating, type 1J | 1 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B | 8 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C | 6 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E | 5 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F | 6 |
| Charcot-Marie-Tooth disease, dominant intermediate G | 1 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A | 5 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B | 10 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C | 5 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D | 6 |
| Charcot-Marie-Tooth Disease, Type 1A | 6 |
| Charcot-Marie-Tooth Disease, Type 1D | 4 |
| Charcot-Marie-Tooth Disease, Type 1E | 6 |
| Charcot-Marie-Tooth Disease, Type 1F | 6 |
| Charcot-Marie-Tooth Disease, Type 2A1 | 4 |
| Charcot-Marie-Tooth Disease, Type 2A2 | 12 |
| Charcot-Marie-Tooth Disease, Type 2L | 7 |
| Charcot-Marie-Tooth Disease, Type 2N | 10 |
| Charcot-Marie-Tooth Disease, Type 2Q | 6 |
| Charcot-Marie-Tooth Disease, Type 2R | 5 |
| Charcot-Marie-Tooth Disease, Type 2S | 5 |
| Charcot-Marie-Tooth Disease, Type 2T | 1 |
| Charcot-Marie-Tooth Disease, Type 2U | 7 |
| Charcot-Marie-Tooth Disease, Type 2Y | 8 |
| Charcot-Marie-Tooth Disease, Type 3 | 9 |
| Charcot-Marie-Tooth Disease, Type 4A | 5 |
| Charcot-Marie-Tooth Disease, Type 4B1 | 8 |
| Charcot-Marie-Tooth Disease, Type 4B2 | 12 |
| Charcot-Marie-Tooth Disease, Type 4B3 | 10 |
| Charcot-Marie-Tooth Disease, Type 4C | 7 |
| Charcot-Marie-Tooth Disease, Type 4D | 6 |
| Charcot-Marie-Tooth Disease, Type 4E | 6 |
| Charcot-Marie-Tooth Disease, Type 4F | 8 |
| Charcot-Marie-Tooth Disease, Type 4H | 5 |
| Charcot-Marie-Tooth Disease, Type 4J | 15 |
| Charcot-Marie-Tooth Disease, Type 4K | 7 |
| Charcot-Marie-Tooth Disease, Type Ib | 7 |
| Charcot-Marie-Tooth Disease, Type IC | 4 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 | 5 |
| Charcot-Marie-Tooth Disease, X-linked Dominant, 6 | 7 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5 | 11 |
| Charcot-Marie-Toothe Disease, Type 2P | 4 |
| CHARGE Association | 28 |
| Chediak-Higashi Syndrome | 17 |
| Cherubism | 6 |
| Chilblain lupus 2 | 6 |
| Chilblain Lupus Erythematosus | 8 |
| Child Syndrome | 10 |
| Childhood Hypophosphatasia | 12 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 1 |
| CHIME syndrome | 6 |
| Chitayat Syndrome | 4 |
| CHMP2B-Related Frontotemporal Dementia | 6 |
| Choanal Atresia And Lymphedema | 2 |
| Cholecystitis | 4 |
| Cholestasis Of Pregnancy | 4 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 4 |
| Cholestasis, Progressive Familial Intrahepatic 2 | 5 |
| Cholestasis, Progressive Familial Intrahepatic 3 | 6 |
| Cholestasis, Progressive Familial Intrahepatic 4 | 4 |
| Cholestasis, progressive familial intrahepatic, 12 | 2 |
| Cholestasis, progressive familial intrahepatic, 5 | 3 |
| Cholesterol Monooxygenase (Side-Chain Cleaving) Deficiency | 7 |
| Chondrocalcinosis 2 | 3 |
| Chondrodysplasia Acromesomelic With Genital Anomalies | 4 |
| Chondrodysplasia Blomstrand Type | 3 |
| Chondrodysplasia Punctata 1, X-Linked Recessive | 5 |
| Chondrodysplasia Punctata 2 X-Linked Dominant | 13 |
| Chondrodysplasia with Joint Dislocations, Gpapp Type | 4 |
| Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia | 3 |
| Chondrosarcoma | 4 |
| Chopra-Amiel-Gordon syndrome | 1 |
| CHOPS Syndrome | 6 |
| Chorea, childhood-onset, with psychomotor retardation | 1 |
| Choreoacanthocytosis | 3 |
| Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | 6 |
| Choroid Plexus Papilloma | 16 |
| Choroidal Dystrophy, Central Areolar 2 | 5 |
| Choroideremia | 8 |
| Chromosome 9Q Deletion Syndrome | 8 |
| Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome | 8 |
| Chronic granulomatous disease 5, autosomal recessive | 3 |
| Chronic Infantile Neurological, Cutaneous And Articular Syndrome | 11 |
| Chronic Myeloid Leukemia | 1 |
| Chronic Obstructive Pulmonary Disease | 5 |
| Chudley-McCullough syndrome | 6 |
| Chylomicron Retention Disease | 4 |
| Ciliary Dyskinesia, Primary, 1 | 13 |
| Ciliary Dyskinesia, Primary, 10 | 10 |
| Ciliary Dyskinesia, Primary, 11 | 8 |
| Ciliary Dyskinesia, Primary, 12 | 8 |
| Ciliary Dyskinesia, Primary, 13 | 10 |
| Ciliary Dyskinesia, Primary, 14 | 10 |
| Ciliary Dyskinesia, Primary, 15 | 10 |
| Ciliary Dyskinesia, Primary, 16 | 9 |
| Ciliary Dyskinesia, Primary, 17 | 9 |
| Ciliary Dyskinesia, Primary, 18 | 9 |
| Ciliary Dyskinesia, Primary, 19 | 8 |
| Ciliary Dyskinesia, Primary, 2 | 10 |
| Ciliary Dyskinesia, Primary, 20 | 9 |
| Ciliary Dyskinesia, Primary, 21 | 7 |
| Ciliary Dyskinesia, Primary, 22 | 9 |
| Ciliary Dyskinesia, Primary, 23 | 7 |
| Ciliary Dyskinesia, Primary, 24 | 7 |
| Ciliary Dyskinesia, Primary, 25 | 7 |
| Ciliary Dyskinesia, Primary, 26 | 9 |
| Ciliary Dyskinesia, Primary, 27 | 7 |
| Ciliary Dyskinesia, Primary, 28 | 8 |
| Ciliary Dyskinesia, primary, 29 | 7 |
| Ciliary Dyskinesia, Primary, 3 | 9 |
| Ciliary Dyskinesia, Primary, 30 | 8 |
| Ciliary Dyskinesia, Primary, 32 | 7 |
| Ciliary Dyskinesia, Primary, 33 | 8 |
| Ciliary Dyskinesia, Primary, 34 | 7 |
| Ciliary Dyskinesia, Primary, 35 | 8 |
| Ciliary Dyskinesia, Primary, 36 | 5 |
| Ciliary Dyskinesia, Primary, 37 | 10 |
| Ciliary dyskinesia, primary, 38 | 9 |
| Ciliary dyskinesia, primary, 39 | 8 |
| Ciliary dyskinesia, primary, 40 | 9 |
| Ciliary dyskinesia, primary, 41 | 7 |
| Ciliary dyskinesia, primary, 42 | 8 |
| Ciliary dyskinesia, primary, 43 | 9 |
| Ciliary dyskinesia, primary, 45 | 8 |
| Ciliary dyskinesia, primary, 46 | 5 |
| Ciliary dyskinesia, primary, 5 | 5 |
| Ciliary Dyskinesia, Primary, 6 | 9 |
| Ciliary Dyskinesia, Primary, 7 | 10 |
| Ciliary Dyskinesia, Primary, 9 | 9 |
| CIMDAG syndrome | 2 |
| Citrin Deficiency | 10 |
| Citrullinemia Type I | 7 |
| Citrullinemia Type II | 10 |
| CK syndrome | 9 |
| CLAPO syndrome, somatic | 9 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome | 4 |
| Cleft Palate X-Linked | 3 |
| Cleft palate, cardiac defects, and mental retardation | 9 |
| Cleft palate, proliferative retinopathy, and developmental delay | 1 |
| Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features | 7 |
| Cleidocranial Dysostosis | 3 |
| CLOVE syndrome, somatic | 10 |
| COACH Syndrome | 16 |
| COACH syndrome 2 | 8 |
| COACH syndrome 3 | 6 |
| Cockayne Syndrome Type I | 9 |
| Cockayne Syndrome, Type B | 8 |
| Cocoon Syndrome | 6 |
| CODAS syndrome | 7 |
| Coenzyme Q10 Deficiency | 13 |
| Coenzyme Q10 Deficiency, Primary, 2 | 9 |
| Coenzyme Q10 deficiency, primary, 3 | 10 |
| Coenzyme Q10 Deficiency, Primary, 4 | 8 |
| Coenzyme Q10 Deficiency, Primary, 5 | 10 |
| Coenzyme Q10 deficiency, primary, 6 | 9 |
| Coenzyme Q10 Deficiency, Primary, 7 | 8 |
| Coenzyme Q10 Deficiency, Primary, 8 | 4 |
| Coenzyme Q10 deficiency, primary, 9 | 3 |
| Coffin-Lowry Syndrome | 4 |
| Coffin-Siris Syndrome 1 | 11 |
| Coffin-Siris syndrome 10 | 2 |
| Coffin-Siris Syndrome 2 | 10 |
| Coffin-Siris Syndrome 3 | 12 |
| Coffin-Siris Syndrome 4 | 18 |
| Coffin-Siris Syndrome 5 | 11 |
| Coffin-Siris syndrome 6 | 4 |
| Coffin-Siris syndrome 7 | 5 |
| Coffin-Siris syndrome 8 | 4 |
| Cognitive Impairment With Or Without Cerebellar Ataxia | 7 |
| Cohen Syndrome | 18 |
| Cohen-Gibson syndrome | 2 |
| Colchicine resistance | 1 |
| Cold-Induced Sweating Syndrome 1 | 2 |
| Cold-Induced Sweating Syndrome 3 | 3 |
| Cole Disease | 8 |
| Cole-Carpenter Syndrome 1 | 4 |
| Cole-Carpenter Syndrome 2 | 10 |
| Coloboma Of Optic Disc | 9 |
| Coloboma, Ocular | 11 |
| Coloboma, ocular, autosomal recessive | 2 |
| Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation | 2 |
| Colorectal Cancer 1 | 2 |
| Colorectal cancer, susceptibility to, 10 | 13 |
| Colorectal cancer, susceptibility to, 12 | 12 |
| Combined Cellular And Humoral Immune Defects With Granulomas | 6 |
| Combined D-2- and L-2-HydroxyGlutaric Aciduria | 9 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 5 |
| Combined Immunodeficiency, X-Linked | 6 |
| Combined low LDL and fibrinogen | 1 |
| Combined Malonic And Methylmalonic Aciduria | 7 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 8 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 7 |
| Combined Oxidative Phosphorylation Deficiency 1 | 8 |
| Combined Oxidative Phosphorylation Deficiency 10 | 11 |
| Combined Oxidative Phosphorylation Deficiency 11 | 3 |
| Combined Oxidative Phosphorylation Deficiency 12 | 7 |
| Combined Oxidative Phosphorylation Deficiency 13 | 6 |
| Combined oxidative phosphorylation deficiency 14 | 9 |
| Combined Oxidative Phosphorylation Deficiency 15 | 8 |
| Combined Oxidative Phosphorylation Deficiency 16 | 2 |
| Combined Oxidative Phosphorylation Deficiency 17 | 7 |
| Combined Oxidative Phosphorylation Deficiency 18 | 4 |
| Combined Oxidative Phosphorylation Deficiency 19 | 2 |
| Combined Oxidative Phosphorylation Deficiency 2 | 2 |
| Combined Oxidative Phosphorylation Deficiency 20 | 6 |
| Combined Oxidative Phosphorylation Deficiency 21 | 2 |
| Combined Oxidative Phosphorylation Deficiency 22 | 4 |
| Combined Oxidative Phosphorylation Deficiency 23 | 4 |
| Combined Oxidative Phosphorylation Deficiency 24 | 7 |
| Combined Oxidative Phosphorylation Deficiency 25 | 4 |
| Combined Oxidative Phosphorylation Deficiency 26 | 4 |
| Combined Oxidative Phosphorylation Deficiency 27 | 5 |
| Combined oxidative phosphorylation deficiency 28 | 2 |
| Combined oxidative phosphorylation deficiency 29 | 3 |
| Combined Oxidative Phosphorylation Deficiency 3 | 10 |
| Combined Oxidative Phosphorylation Deficiency 30 | 3 |
| Combined oxidative phosphorylation deficiency 31 | 5 |
| Combined oxidative phosphorylation deficiency 32 | 3 |
| Combined oxidative phosphorylation deficiency 33 | 6 |
| Combined Oxidative Phosphorylation Deficiency 34 | 3 |
| Combined Oxidative Phosphorylation Deficiency 35 | 3 |
| Combined oxidative phosphorylation deficiency 36 | 4 |
| Combined oxidative phosphorylation deficiency 37 | 3 |
| Combined oxidative phosphorylation deficiency 38 | 2 |
| Combined oxidative phosphorylation deficiency 39 | 4 |
| Combined Oxidative Phosphorylation Deficiency 4 | 3 |
| Combined oxidative phosphorylation deficiency 40 | 2 |
| Combined oxidative phosphorylation deficiency 41 | 3 |
| Combined oxidative phosphorylation deficiency 42 | 2 |
| Combined oxidative phosphorylation deficiency 43 | 2 |
| Combined oxidative phosphorylation deficiency 44 | 4 |
| Combined oxidative phosphorylation deficiency 45 | 1 |
| Combined oxidative phosphorylation deficiency 47 | 2 |
| Combined oxidative phosphorylation deficiency 48 | 1 |
| Combined Oxidative Phosphorylation Deficiency 5 | 6 |
| Combined oxidative phosphorylation deficiency 50 | 1 |
| Combined oxidative phosphorylation deficiency 51 | 2 |
| Combined oxidative phosphorylation deficiency 52 | 1 |
| Combined oxidative phosphorylation deficiency 53 | 5 |
| Combined oxidative phosphorylation deficiency 56 | 2 |
| Combined oxidative phosphorylation deficiency 58 | 2 |
| Combined Oxidative Phosphorylation Deficiency 6 | 10 |
| Combined Oxidative Phosphorylation Deficiency 7 | 9 |
| Combined Oxidative Phosphorylation Deficiency 8 | 6 |
| Combined Oxidative Phosphorylation Deficiency 9 | 3 |
| Combined oxidative phosphorylation defiency 46 | 2 |
| Combined Saposin Deficiency | 7 |
| COMMAD syndrome | 6 |
| Common Variable Agammaglobulinemia | 6 |
| Complement Component 2 Deficiency | 4 |
| Complement Component 3 Deficiency, Autosomal Recessive | 5 |
| Complement Component 4, Partial Deficiency Of | 4 |
| Complement Component 6 Deficiency | 3 |
| Complement Component 7 Deficiency | 3 |
| Complement Component 8 Deficiency Type 1 | 3 |
| Complement Component 8 Deficiency Type 2 | 3 |
| Complement Component 9 Deficiency | 3 |
| Complement Component c1s Deficiency | 5 |
| Complement factor B deficiency | 5 |
| Complement Factor D Deficiency | 3 |
| Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | 4 |
| Complete Trisomy 21 Syndrome | 6 |
| Cone Dystrophy 3 | 4 |
| Cone Dystrophy 4 | 6 |
| Cone-Rod Dystrophy 10 | 4 |
| Cone-Rod Dystrophy 11 | 4 |
| Cone-Rod Dystrophy 12 | 5 |
| Cone-Rod Dystrophy 13 | 8 |
| Cone-rod dystrophy 14 | 3 |
| Cone-Rod Dystrophy 15 | 7 |
| Cone-rod dystrophy 16 | 15 |
| Cone-Rod Dystrophy 18 | 4 |
| Cone-Rod Dystrophy 19 | 3 |
| Cone-Rod Dystrophy 2 | 7 |
| Cone-Rod Dystrophy 20 | 5 |
| Cone-Rod Dystrophy 21 | 4 |
| Cone-Rod Dystrophy 3 | 6 |
| Cone-Rod Dystrophy 5 | 7 |
| Cone-Rod Dystrophy 6 | 7 |
| Cone-Rod Dystrophy 7 | 5 |
| Cone-Rod Dystrophy 9 | 5 |
| Cone-Rod Dystrophy and Hearing Loss | 3 |
| Cone-rod dystrophy and hearing loss 2 | 2 |
| Cone-Rod Dystrophy X-Linked 3 | 7 |
| Cone-Rod Dystrophy, X-Linked, 1 | 10 |
| Congenital Amegakaryocytic Thrombocytopenia | 7 |
| Congenital Aniridia | 12 |
| Congenital Anomalies of Kidney and Urinary Tract 2 | 2 |
| Congenital anomalies of kidney and urinary tract 3 | 3 |
| Congenital Anomalies of Kidney and Urinary Tract Syndrome with or without Hearing Loss, Abnormal Ears, or Developmental Delay | 5 |
| Congenital Anomalies of Kidney and Urinary Tract, Susceptibility to | 7 |
| Congenital Bilateral Absence Of The Vas Deferens | 9 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy | 10 |
| Congenital Cataracts, Hearing Loss, and Neurodegeneration | 10 |
| Congenital Central Hypoventilation syndrome | 22 |
| Congenital Contractural Arachnodactyly | 8 |
| Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay | 9 |
| Congenital Cystic Disease Of Liver | 6 |
| Congenital Disorder of Deglycosylation | 6 |
| Congenital Disorder Of Glycosylation Type 1A | 14 |
| Congenital Disorder Of Glycosylation Type 1B | 5 |
| Congenital Disorder Of Glycosylation Type 1C | 10 |
| Congenital Disorder Of Glycosylation Type 1D | 7 |
| Congenital Disorder Of Glycosylation Type 1E | 12 |
| Congenital Disorder Of Glycosylation Type 1F | 8 |
| Congenital Disorder Of Glycosylation Type 1G | 7 |
| Congenital Disorder Of Glycosylation Type 1H | 11 |
| Congenital Disorder Of Glycosylation Type 1I | 9 |
| Congenital Disorder Of Glycosylation Type 1J | 6 |
| Congenital Disorder Of Glycosylation Type 1K | 6 |
| Congenital Disorder Of Glycosylation Type 1L | 9 |
| Congenital Disorder Of Glycosylation Type 1M | 10 |
| Congenital Disorder Of Glycosylation Type 1O | 8 |
| Congenital Disorder Of Glycosylation Type 1P | 4 |
| Congenital Disorder Of Glycosylation Type 1Q | 6 |
| Congenital Disorder Of Glycosylation Type 2C | 8 |
| Congenital Disorder Of Glycosylation Type 2D | 3 |
| Congenital Disorder Of Glycosylation Type 2E | 5 |
| Congenital Disorder Of Glycosylation Type 2F | 5 |
| Congenital Disorder Of Glycosylation Type 2G | 3 |
| Congenital Disorder Of Glycosylation Type 2I | 5 |
| Congenital Disorder Of Glycosylation Type IIb | 8 |
| Congenital Disorder Of Glycosylation Type IIh | 3 |
| Congenital Disorder Of Glycosylation Type IIj | 7 |
| Congenital Disorder of Glycosylation Type IIk | 4 |
| Congenital Disorder of Glycosylation Type IIl | 7 |
| Congenital Disorder of Glycosylation Type IIm | 8 |
| Congenital Disorder of Glycosylation Type IIn | 3 |
| Congenital Disorder of Glycosylation Type IIo | 3 |
| Congenital Disorder of Glycosylation Type IIp | 2 |
| Congenital Disorder of Glycosylation Type IIq | 3 |
| Congenital Disorder Of Glycosylation Type In | 4 |
| Congenital Disorder of Glycosylation Type Ir | 2 |
| Congenital Disorder of Glycosylation Type It | 9 |
| Congenital Disorder of Glycosylation Type Iu | 9 |
| Congenital Disorder of Glycosylation Type Iw | 3 |
| Congenital Disorder of Glycosylation Type Ix | 3 |
| Congenital Disorder of Glycosylation Type Iy | 5 |
| Congenital disorder of glycosylation with defective fucosylation 1 | 4 |
| Congenital disorder of glycosylation with defective fucosylation 2 | 2 |
| Congenital disorder of glycosylation, type 1aa | 4 |
| Congenital disorder of glycosylation, type Icc | 5 |
| Congenital disorder of glycosylation, type IIr | 4 |
| Congenital disorder of glycosylation, type IIt | 2 |
| Congenital disorder of glycosylation, type IIw | 4 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 |
| Congenital Fiber Type Disproportion | 9 |
| Congenital Generalized Lipodystrophy Type 1 | 4 |
| Congenital Generalized Lipodystrophy Type 2 | 9 |
| Congenital Glucose-Galactose Malabsorption | 5 |
| Congenital heart defects and ectodermal dysplasia | 1 |
| Congenital heart defects and skeletal malformations syndrome | 3 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 5 |
| Congenital heart defects, hamartomas of tongue, and polysyndactyly | 7 |
| Congenital heart defects, multiple types, 4 | 5 |
| Congenital heart defects, multiple types, 5 | 4 |
| Congenital heart defects, multiple types, 7 | 2 |
| Congenital heart defects, multiple types, 8, with or without heterotaxy | 1 |
| Congenital heart defects, nonsyndromic, 2 | 3 |
| Congenital Human Immunodeficiency Virus | 6 |
| Congenital Hyperammonemia, Type I | 10 |
| Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 2 |
| Congenital Ichthyosis Of Skin | 3 |
| Congenital Lactase Deficiency | 5 |
| Congenital Microvillous Atrophy | 6 |
| Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 | 13 |
| Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B | 12 |
| Congenital Myasthenic Syndrome - RAPSN | 4 |
| Congenital Myasthenic Syndrome, Acetazolamide-Responsive | 5 |
| Congenital myopathy 10B, mild variant | 1 |
| Congenital myopathy 11 | 1 |
| Congenital myopathy 14 | 1 |
| Congenital myopathy 15 | 1 |
| Congenital myopathy 20 | 1 |
| Congenital myopathy 21 with early respiratory failure | 1 |
| Congenital myopathy 22A, classic | 1 |
| Congenital myopathy 22B, severe fetal | 1 |
| Congenital Myotonia, Autosomal Dominant Form | 3 |
| Congenital Secretory Diarrhea, Chloride Type | 4 |
| Congenital Secretory Diarrhea, Sodium Type | 6 |
| Congenital short bowel syndrome | 1 |
| Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic | 2 |
| Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic | 3 |
| Congenital Stromal Corneal Dystrophy | 3 |
| Conotruncal Heart Malformations | 21 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1B | 6 |
| Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis | 10 |
| Cornea Plana 2 | 3 |
| Corneal Dystrophy And Perceptive Deafness | 1 |
| Corneal Dystrophy Fuchs Endothelial 1 | 4 |
| Corneal dystrophy, Fuchs endothelial, 3 | 7 |
| Corneal Dystrophy, Fuchs Endothelial, 4 | 1 |
| Corneal Dystrophy, Fuchs Endothelial, 6 | 4 |
| Corneal Dystrophy, Fuchs Endothelial, 8 | 3 |
| Corneal Dystrophy, Posterior Polymorphous, 2 | 4 |
| Corneal Dystrophy, Posterior Polymorphous, 3 | 3 |
| Corneal dystrophy, posterior polymorphous, 4 | 7 |
| Corneal Endothelial Dystrophy Type 2 | 2 |
| Corneal Epithelial Dystrophy | 2 |
| Corneal Opacification and Other Ocular Anomalies | 7 |
| Cornelia de Lange syndrome 1 | 16 |
| Cornelia de Lange syndrome 2 | 18 |
| Cornelia de Lange syndrome 3 | 13 |
| Cornelia de Lange syndrome 4 | 14 |
| Cornelia de Lange syndrome 5 | 12 |
| Coronary Heart Disease 7 | 1 |
| Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 1 |
| Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia | 2 |
| Corpus Callosum, Partial Agenesis Of, X-Linked | 6 |
| Cortical Dysplasia, Complex, With Other Brain Malformations | 10 |
| Cortical dysplasia, complex, with other brain malformations 10 | 4 |
| Cortical dysplasia, complex, with other brain malformations 12 | 1 |
| Cortical dysplasia, complex, with other brain malformations 2 | 7 |
| Cortical dysplasia, complex, with other brain malformations 3 | 7 |
| Cortical Dysplasia, Complex, with other Brain Malformations 4 | 7 |
| Cortical Dysplasia, Complex, with other Brain Malformations 5 | 5 |
| Cortical dysplasia, complex, with other brain malformations 6 | 5 |
| Cortical dysplasia, complex, with other brain malformations 9 | 4 |
| Cortical Dysplasia-Focal Epilepsy Syndrome | 9 |
| Cortical Malformations, Occipital | 3 |
| Corticosterone Methyloxidase Type II Deficiency | 2 |
| Cortisone reductase deficiency 2 | 1 |
| Costello Syndrome | 18 |
| Coumarin Resistance | 2 |
| Cousin Syndrome | 8 |
| Cowchock Syndrome | 10 |
| Cowden Disease | 28 |
| Cowden syndrome 3 | 3 |
| Cowden syndrome 5 | 14 |
| Cowden syndrome 6 | 3 |
| Cowden syndrome 7 | 5 |
| Cowden-Like Syndrome | 2 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant | 2 |
| Cranioectodermal Dysplasia | 10 |
| Cranioectodermal Dysplasia 2 | 12 |
| Cranioectodermal Dysplasia 3 | 6 |
| Cranioectodermal Dysplasia 4 | 9 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome | 4 |
| Craniofacial Deafness Hand Syndrome | 7 |
| Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 1 |
| Craniofrontonasal Dysplasia | 10 |
| Craniolenticulosutural Dysplasia | 3 |
| Craniometaphyseal Dysplasia, Autosomal Dominant | 3 |
| Craniometaphyseal dysplasia, autosomal recessive | 12 |
| Craniosynostosis 3 | 7 |
| Craniosynostosis 4 | 4 |
| Craniosynostosis 5, Susceptibility to | 4 |
| Craniosynostosis 6 | 2 |
| Craniosynostosis 7, susceptibility to | 1 |
| Craniosynostosis And Dental Anomalies | 3 |
| Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies | 1 |
| Craniosynostosis, Type 1 | 10 |
| Craniosynostosis, Type 2 | 5 |
| Creatine Phosphokinase, Elevated Serum | 3 |
| Crigler-Najjar Syndrome, Type I | 4 |
| Crigler-Najjar Syndrome, Type II | 4 |
| Crouzon Syndrome | 16 |
| Crouzon Syndrome With Acanthosis Nigricans | 15 |
| Cryohydrocytosis | 2 |
| Cryptophthalmos, unilateral or bilateral, isolated | 9 |
| Cryptorchidism, Unilateral Or Bilateral | 3 |
| Culler-Jones Syndrome | 13 |
| Currarino Syndrome | 5 |
| Curry-Jones syndrome, somatic mosaic | 4 |
| Cushing syndrome, ACTH-independent adrenal, somatic | 1 |
| Cushing's Symphalangism | 7 |
| Cutaneous Malignant Melanoma 1 | 8 |
| Cutaneous Telangiectasia and Cancer Syndrome, Familial | 6 |
| Cutis Gyrata Syndrome Of Beare And Stevenson | 12 |
| Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities | 6 |
| Cutis Laxa, Autosomal Dominant | 8 |
| Cutis Laxa, Autosomal Dominant 2 | 9 |
| Cutis Laxa, Autosomal Dominant 3 | 10 |
| Cutis Laxa, Autosomal Recessive, Type IA | 10 |
| Cutis Laxa, Autosomal Recessive, Type IB | 8 |
| Cutis Laxa, Autosomal Recessive, Type IIA | 11 |
| Cutis Laxa, Autosomal Recessive, Type IIB | 7 |
| Cutis Laxa, Autosomal Recessive, Type IIC | 4 |
| Cutis Laxa, Autosomal Recessive, Type IID | 6 |
| Cutis Laxa, Autosomal Recessive, Type IIIB | 6 |
| Cyclical Neutropenia | 9 |
| Cylindromatosis, Familial | 1 |
| Cystathioninuria | 2 |
| Cystic Fibrosis | 16 |
| Cystinosis | 5 |
| Cystinosis, Ocular Nonnephropathic | 5 |
| Cystinuria | 6 |
| Czech Dysplasia Metatarsal Type | 16 |
| D-2-Alpha Hydroxyglutaric Aciduria | 8 |
| D-2-Hydroxyglutaric Aciduria 2 | 7 |
| D-Bifunctional Protein Deficiency | 8 |
| D-lactic aciduria with susceptibility to gout | 1 |
| Danon Disease | 14 |
| De Sanctis-Cacchione Syndrome | 6 |
| Deafness , autosomal recessive 86 | 8 |
| Deafness and myopia | 2 |
| Deafness autosomal recessive 106 | 1 |
| Deafness With Labyrinthine Aplasia Microtia And Microdontia (Lamm) | 3 |
| Deafness, Aminoglycoside-Induced | 3 |
| Deafness, Autosomal Dominant 1 | 8 |
| Deafness, Autosomal Dominant 10 | 4 |
| Deafness, Autosomal Dominant 11 | 3 |
| Deafness, Autosomal Dominant 12 | 3 |
| Deafness, Autosomal Dominant 13 | 10 |
| Deafness, Autosomal Dominant 15 | 2 |
| Deafness, Autosomal Dominant 17 | 9 |
| Deafness, Autosomal Dominant 20 | 5 |
| Deafness, autosomal dominant 21 | 1 |
| Deafness, Autosomal Dominant 22 | 7 |
| Deafness, Autosomal Dominant 23 | 5 |
| Deafness, Autosomal Dominant 25 | 2 |
| Deafness, autosomal dominant 27 | 3 |
| Deafness, Autosomal Dominant 28 | 5 |
| Deafness, Autosomal Dominant 2A | 3 |
| Deafness, Autosomal Dominant 2B | 5 |
| Deafness, autosomal dominant 34, with or without inflammation | 8 |
| Deafness, Autosomal Dominant 36 | 3 |
| Deafness, autosomal dominant 37 | 7 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 | 3 |
| Deafness, Autosomal Dominant 3A | 5 |
| Deafness, Autosomal Dominant 3B | 4 |
| Deafness, Autosomal Dominant 4 | 5 |
| Deafness, Autosomal Dominant 40 | 2 |
| Deafness, autosomal dominant 41 | 1 |
| Deafness, Autosomal Dominant 44 | 3 |
| Deafness, Autosomal Dominant 4B | 2 |
| Deafness, Autosomal Dominant 5 | 1 |
| Deafness, Autosomal Dominant 50 | 1 |
| Deafness, Autosomal Dominant 51 | 1 |
| Deafness, autosomal dominant 56 | 1 |
| Deafness, Autosomal Dominant 6 | 9 |
| Deafness, Autosomal Dominant 64 | 3 |
| Deafness, autosomal dominant 65 | 8 |
| Deafness, autosomal dominant 66 | 1 |
| Deafness, autosomal dominant 67 | 1 |
| Deafness, autosomal dominant 68 | 1 |
| Deafness, Autosomal Dominant 69 | 4 |
| Deafness, autosomal dominant 7 | 1 |
| Deafness, autosomal dominant 70 | 1 |
| Deafness, autosomal dominant 71 | 5 |
| Deafness, autosomal dominant 72 | 1 |
| Deafness, autosomal dominant 73 | 1 |
| Deafness, autosomal dominant 74 | 1 |
| Deafness, autosomal dominant 75 | 2 |
| Deafness, autosomal dominant 76 | 1 |
| Deafness, autosomal dominant 80 | 3 |
| Deafness, autosomal dominant 81 | 1 |
| Deafness, autosomal dominant 82 | 1 |
| Deafness, autosomal dominant 83 | 2 |
| Deafness, autosomal dominant 84 | 1 |
| Deafness, autosomal dominant 85 | 1 |
| Deafness, autosomal dominant 87 | 1 |
| Deafness, autosomal dominant 89 | 1 |
| Deafness, Autosomal Dominant 9 | 3 |
| Deafness, autosomal dominant 90 | 1 |
| Deafness, autosomal recessive 101 | 1 |
| Deafness, autosomal recessive 102 | 1 |
| Deafness, autosomal recessive 103 | 1 |
| Deafness, autosomal recessive 104 | 1 |
| Deafness, autosomal recessive 105 | 1 |
| Deafness, autosomal recessive 107 | 1 |
| Deafness, autosomal recessive 108 | 1 |
| Deafness, autosomal recessive 110 | 1 |
| Deafness, autosomal recessive 111 | 1 |
| Deafness, autosomal recessive 112 | 1 |
| Deafness, autosomal recessive 113 | 1 |
| Deafness, autosomal recessive 114 | 1 |
| Deafness, autosomal recessive 115 | 2 |
| Deafness, autosomal recessive 116 | 1 |
| Deafness, autosomal recessive 117 | 1 |
| Deafness, autosomal recessive 119 | 2 |
| Deafness, Autosomal Recessive 12 | 2 |
| Deafness, autosomal recessive 120 | 1 |
| Deafness, autosomal recessive 121 | 1 |
| Deafness, autosomal recessive 122 | 1 |
| Deafness, autosomal recessive 124 | 1 |
| Deafness, Autosomal Recessive 15 | 2 |
| Deafness, Autosomal Recessive 16 | 3 |
| Deafness, Autosomal Recessive 18 | 3 |
| Deafness, autosomal recessive 18B | 1 |
| Deafness, Autosomal Recessive 1A | 9 |
| Deafness, Autosomal Recessive 1B | 4 |
| Deafness, Autosomal Recessive 2 | 3 |
| Deafness, Autosomal Recessive 21 | 3 |
| Deafness, Autosomal Recessive 22 | 2 |
| Deafness, Autosomal Recessive 23 | 2 |
| Deafness, Autosomal Recessive 24 | 2 |
| Deafness, Autosomal Recessive 25 | 2 |
| Deafness, Autosomal Recessive 28 | 4 |
| Deafness, Autosomal Recessive 29 | 3 |
| Deafness, Autosomal Recessive 3 | 3 |
| Deafness, Autosomal Recessive 30 | 3 |
| Deafness, Autosomal Recessive 31 | 4 |
| Deafness, autosomal recessive 32, with or without immotile sperm | 1 |
| Deafness, Autosomal Recessive 35 | 3 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement | 2 |
| Deafness, Autosomal Recessive 37 | 5 |
| Deafness, Autosomal Recessive 39 | 3 |
| Deafness, Autosomal Recessive 42 | 3 |
| Deafness, autosomal recessive 44 | 1 |
| Deafness, Autosomal Recessive 48 | 3 |
| Deafness, Autosomal Recessive 49 | 2 |
| Deafness, Autosomal Recessive 53 | 9 |
| Deafness, autosomal recessive 57 | 3 |
| Deafness, Autosomal Recessive 59 | 3 |
| Deafness, Autosomal Recessive 6 | 2 |
| Deafness, Autosomal Recessive 61 | 3 |
| Deafness, Autosomal Recessive 63 | 2 |
| Deafness, autosomal recessive 66 | 5 |
| Deafness, Autosomal Recessive 67 | 4 |
| Deafness, autosomal recessive 68 | 1 |
| Deafness, Autosomal Recessive 7 | 3 |
| Deafness, autosomal recessive 70 | 5 |
| Deafness, Autosomal Recessive 74 | 2 |
| Deafness, autosomal recessive 76 | 1 |
| Deafness, Autosomal Recessive 77 | 3 |
| Deafness, Autosomal Recessive 79 | 1 |
| Deafness, Autosomal Recessive 8/10 | 2 |
| Deafness, Autosomal Recessive 84 | 1 |
| Deafness, autosomal recessive 84B | 1 |
| Deafness, autosomal recessive 88 | 1 |
| Deafness, autosomal recessive 89 | 6 |
| Deafness, Autosomal Recessive 9 | 3 |
| Deafness, Autosomal Recessive 91 | 2 |
| Deafness, autosomal recessive 93 | 1 |
| Deafness, autosomal recessive 94 | 6 |
| Deafness, autosomal recessive 97 | 2 |
| Deafness, autosomal recessive 98 | 2 |
| Deafness, autosomal recessive 99 | 1 |
| Deafness, congenital heart defects, and posterior embryotoxon | 12 |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | 3 |
| Deafness, congenital, with onychodystrophy, autosomal dominant | 1 |
| Deafness, Dystonia, and Cerebral Hypomyelination | 5 |
| Deafness, X-Linked 1 | 7 |
| Deafness, X-Linked 2 | 2 |
| Deafness, X-Linked 4 | 4 |
| Deafness, X-Linked 5 | 9 |
| Deafness, X-linked 6 | 6 |
| Deafness, X-linked 7 | 1 |
| DEEAH syndrome | 1 |
| Deficiency Of (R)-20-Hydroxysteroid Dehydrogenase | 1 |
| Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase | 10 |
| Deficiency Of Alpha-Mannosidase | 9 |
| Deficiency Of Aromatic-L-Amino-Acid Decarboxylase | 8 |
| Deficiency Of Butyryl-CoA Dehydrogenase | 9 |
| Deficiency Of Galactokinase | 8 |
| Deficiency Of Glycerate Kinase | 3 |
| Deficiency Of Guanidinoacetate Methyltransferase | 8 |
| Deficiency Of Isobutyryl-CoA Dehydrogenase | 3 |
| Deficiency Of Pyrroline-5-Carboxylate Reductase | 3 |
| Deficiency Of Ribose-5-Phosphate Isomerase | 3 |
| Deficiency Of Steroid 17-Alpha-Monooxygenase | 8 |
| Deficiency Of Transaldolase | 6 |
| Dementia Familial British | 5 |
| Dementia, Familial Danish | 5 |
| Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency | 7 |
| Dent Disease 1 | 9 |
| Dent Disease 2 | 13 |
| Dental Anomalies and Short Stature | 7 |
| Dentatorubral Pallidoluysian Atrophy | 3 |
| Dentici-Novelli neurodevelopmental syndrome | 1 |
| Denticles | 4 |
| Dentin Dysplasia, Type I, with Microdontia and Misshapen Teeth | 1 |
| Dentinogenesis Imperfecta - Shield's Type II | 4 |
| Dentinogenesis Imperfecta Shields Type 3 | 4 |
| Dermatitis, Atopic, 2 | 2 |
| Dermatofibrosarcoma protuberans | 3 |
| Dermatofibrosis Lenticularis Disseminata | 1 |
| Dermatopathia Pigmentosa Reticularis | 3 |
| Desanto-Shinawi syndrome | 5 |
| Desbuquois Dysplasia 2 | 5 |
| Desbuquois Syndrome | 8 |
| Desmoid Disease, Hereditary | 8 |
| Desmosterolosis | 11 |
| Developmental and epileptic encephalopathy 100 | 1 |
| Developmental and epileptic encephalopathy 101 | 1 |
| Developmental and epileptic encephalopathy 102 | 1 |
| Developmental and epileptic encephalopathy 103 | 2 |
| Developmental and epileptic encephalopathy 104 | 1 |
| Developmental and epileptic encephalopathy 105 with hypopituitarism | 1 |
| Developmental and epileptic encephalopathy 106 | 1 |
| Developmental and epileptic encephalopathy 107 | 1 |
| Developmental and epileptic encephalopathy 108 | 2 |
| Developmental and epileptic encephalopathy 109 | 1 |
| Developmental and epileptic encephalopathy 110 | 1 |
| Developmental and epileptic encephalopathy 111 | 1 |
| Developmental and epileptic encephalopathy 112 | 1 |
| Developmental and epileptic encephalopathy 114 | 1 |
| Developmental and epileptic encephalopathy 115 | 1 |
| Developmental and epileptic encephalopathy 116 | 1 |
| Developmental and epileptic encephalopathy 31B, autosomal recessive | 1 |
| Developmental and Epileptic Encephalopathy 4 | 10 |
| Developmental and epileptic encephalopathy 6B, non-Dravet | 4 |
| Developmental and epileptic encephalopathy 79 | 1 |
| Developmental and epileptic encephalopathy 84 | 2 |
| Developmental and epileptic encephalopathy 86 | 1 |
| Developmental and epileptic encephalopathy 87 | 2 |
| Developmental and epileptic encephalopathy 89 | 3 |
| Developmental and epileptic encephalopathy 90 | 2 |
| Developmental and epileptic encephalopathy 96 | 1 |
| Developmental and epileptic encephalopathy 97 | 1 |
| Developmental and epileptic encephalopathy 98 | 4 |
| Developmental and epileptic encephalopathy 99 | 6 |
| Developmental Delay and Seizures with or without Movement Abnormalities | 6 |
| Developmental delay with dysmorphic facies and dental anomalies | 2 |
| Developmental delay with hypotonia, myopathy, and brain abnormalities | 2 |
| Developmental delay with or without dysmorphic facies and autism | 2 |
| Developmental delay with or without epilepsy | 3 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 |
| Developmental delay with short stature, dysmorphic facial features, and sparse hair | 1 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 4 |
| Developmental delay with variable neurologic and brain abnormalities | 2 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 |
| Developmental delay, dysmorphic facies, and brain anomalies | 1 |
| Developmental delay, hypotonia, and impaired language | 1 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 2 |
| Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy | 3 |
| Developmental delay, impaired speech, and behavioral abnormalities | 2 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 1 |
| Developmental delay, intellectual disability, obesity, and dysmorphic features | 2 |
| Diabetes Insipidus, Nephrogenic, Autosomal | 5 |
| Diabetes Insipidus, Nephrogenic, X-Linked | 5 |
| Diabetes Insipidus, Neurohypophyseal | 3 |
| Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness | 13 |
| Diabetes Mellitus Type 1 | 6 |
| Diabetes Mellitus, Insulin-Dependent, 10 | 5 |
| Diabetes Mellitus, Insulin-Dependent, 12 | 4 |
| Diabetes Mellitus, Insulin-Dependent, 2 | 4 |
| Diabetes Mellitus, Insulin-Dependent, 20 | 4 |
| Diabetes Mellitus, Ketosis-Prone | 3 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism | 4 |
| Diabetes Mellitus, Noninsulin-Dependent | 34 |
| Diabetes Mellitus, Noninsulin-Dependent, 1 | 1 |
| Diabetes mellitus, permanent neonatal | 4 |
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | 6 |
| Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis | 6 |
| Diabetes, permanent neonatal 2, with or without neurologic features | 4 |
| Diamond Blackfan anemia 15 with mandibulofacial dysostosis | 5 |
| Diamond-Blackfan Anemia 1 | 9 |
| Diamond-Blackfan Anemia 10 | 8 |
| Diamond-Blackfan Anemia 11 | 8 |
| Diamond-Blackfan Anemia 12 | 9 |
| Diamond-Blackfan anemia 13 | 6 |
| Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 4 |
| Diamond-Blackfan anemia 16 | 6 |
| Diamond-Blackfan anemia 17 | 6 |
| Diamond-Blackfan anemia 18 | 5 |
| Diamond-Blackfan anemia 19 | 5 |
| Diamond-Blackfan anemia 20 | 5 |
| Diamond-Blackfan Anemia 3 | 8 |
| Diamond-Blackfan Anemia 4 | 8 |
| Diamond-Blackfan Anemia 5 | 8 |
| Diamond-Blackfan Anemia 6 | 8 |
| Diamond-Blackfan Anemia 7 | 8 |
| Diamond-Blackfan Anemia 8 | 9 |
| Diamond-Blackfan Anemia 9 | 8 |
| Diamond-Blackfan anemia-like | 3 |
| Diaphanospondylodysostosis | 3 |
| Diaphragmatic Hernia 3 | 5 |
| Diaphragmatic hernia 5, X-linked | 4 |
| Diaphyseal medullary stenosis with malignant fibrous histiocytoma | 1 |
| Diarrhea 10, protein-losing enteropathy type | 2 |
| Diarrhea 12, with microvillus atrophy | 1 |
| Diarrhea 4, Malabsorptive, Congenital | 4 |
| Diarrhea 5, With Tufting Enteropathy, Congenital | 10 |
| Diarrhea 6 | 5 |
| Diarrhea 7, protein-losing enteropathy type | 5 |
| Diarrhea 8, secretory sodium, congenital | 3 |
| Diarrhea 9 | 1 |
| Dias-Logan Syndrome | 4 |
| Diastrophic Dysplasia | 10 |
| Dicarboxylic Aminoaciduria | 1 |
| Diencephalic-mesencephalic junction dysplasia syndrome 2 | 1 |
| Diets-Jongmans syndrome | 3 |
| Digeorge Sequence | 12 |
| Digital Clubbing, Isolated Congenital | 4 |
| Dihydrolipoamide dehydrogenase deficiency | 10 |
| Dihydropteridine Reductase Deficiency | 7 |
| Dihydropyrimidinase Deficiency | 4 |
| Dihydropyrimidine Dehydrogenase Deficiency | 6 |
| Dilated Cardiomyopathy 1A | 15 |
| Dilated Cardiomyopathy 1Aa | 8 |
| Dilated Cardiomyopathy 1BB | 3 |
| Dilated Cardiomyopathy 1C | 10 |
| Dilated Cardiomyopathy 1CC | 7 |
| Dilated Cardiomyopathy 1D | 4 |
| Dilated Cardiomyopathy 1DD | 7 |
| Dilated Cardiomyopathy 1E | 4 |
| Dilated Cardiomyopathy 1Ee | 6 |
| Dilated Cardiomyopathy 1FF | 4 |
| Dilated Cardiomyopathy 1G | 5 |
| Dilated Cardiomyopathy 1I | 6 |
| Dilated Cardiomyopathy 1J | 6 |
| Dilated Cardiomyopathy 1L | 8 |
| Dilated Cardiomyopathy 1M | 3 |
| Dilated Cardiomyopathy 1N | 8 |
| Dilated Cardiomyopathy 1O | 4 |
| Dilated Cardiomyopathy 1P | 7 |
| Dilated Cardiomyopathy 1R | 7 |
| Dilated Cardiomyopathy 1S | 8 |
| Dilated Cardiomyopathy 1W | 5 |
| Dilated Cardiomyopathy 1X | 10 |
| Dilated Cardiomyopathy 1Y | 7 |
| Dilated Cardiomyopathy 1Z | 3 |
| Dilated Cardiomyopathy 2A | 6 |
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | 4 |
| Dimethylglycine Dehydrogenase Deficiency | 2 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency | 9 |
| Distal Hereditary Motor Neuronopathy Type 2A | 5 |
| Distal Hereditary Motor Neuronopathy Type 2B | 5 |
| Distal Hereditary Motor Neuronopathy Type 5 | 9 |
| Distal Myopathy Markesbery-Griggs Type | 5 |
| Distichiasis-Lymphedema Syndrome | 5 |
| Dizygotic Twins | 2 |
| Dominant Dystrophic Epidermolysis Bullosa With Absence Of Skin | 5 |
| Dominant Hereditary Optic Atrophy | 13 |
| Donnai Barrow Syndrome | 6 |
| DOOR syndrome | 9 |
| Dopamine Beta Hydroxylase Deficiency | 3 |
| Dowling-Degos disease 2 | 1 |
| Dowling-Degos disease 4 | 2 |
| Doyne Honeycomb Retinal Dystrophy | 6 |
| Drash Syndrome | 12 |
| Duane retraction syndrome 3 | 5 |
| Duane Syndrome Type 2 | 3 |
| Duane-Radial Ray Syndrome | 12 |
| Dubin-Johnson Syndrome | 5 |
| Duchenne Muscular Dystrophy | 8 |
| Dworschak-Punetha neurodevelopmental syndrome | 1 |
| Dyggve-Melchior-Clausen Syndrome | 5 |
| Dyschromatosis universalis hereditaria 3 | 2 |
| Dyserythropoietic Anemia, Congenital, Type Ia | 7 |
| Dyserythropoietic Anemia, Congenital, Type Ib | 5 |
| Dyserythropoietic Anemia, Congenital, Type II | 8 |
| Dyserythropoietic Anemia, Congenital, Type IV | 7 |
| Dysfibrinogenemia, congenital | 7 |
| Dyskeratosis Congenita Autosomal Dominant | 9 |
| Dyskeratosis Congenita Autosomal Recessive | 8 |
| Dyskeratosis Congenita X-Linked | 13 |
| Dyskeratosis Congenita, Autosomal Dominant 4 | 10 |
| Dyskeratosis congenita, autosomal dominant 6 | 5 |
| Dyskeratosis Congenita, Autosomal Dominant, 2 | 12 |
| Dyskeratosis Congenita, Autosomal Dominant, 3 | 9 |
| Dyskeratosis Congenita, Autosomal Recessive 6 | 12 |
| Dyskeratosis Congenita, Autosomal Recessive, 2 | 8 |
| Dyskeratosis Congenita, Autosomal Recessive, 3 | 7 |
| Dyskinesia, familial, with facial myokymia | 1 |
| Dyskinesia, limb and orofacial, infantile-onset | 1 |
| Dyskinesia, Seizures, and Intellectual Developmental Disorder | 5 |
| Dyslexia 1 | 3 |
| Dyssegmental Dysplasia Silverman-Handmaker Type | 4 |
| Dystonia 1 | 5 |
| Dystonia 12 | 12 |
| Dystonia 16 | 3 |
| Dystonia 2, torsion, autosomal recessive | 1 |
| Dystonia 24 | 3 |
| Dystonia 25 | 3 |
| Dystonia 26, myoclonic | 1 |
| Dystonia 27 | 4 |
| Dystonia 28, childhood-onset | 2 |
| Dystonia 3, Torsion, X-Linked | 8 |
| Dystonia 32 | 2 |
| Dystonia 33 | 1 |
| Dystonia 35, childhood-onset | 1 |
| Dystonia 4, Torsion | 7 |
| Dystonia 5, Dopa-Responsive Type | 9 |
| Dystonia 6, Torsion | 3 |
| Dystonia 9 | 11 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 7 |
| Dystransthyretinemic Euthyroidal Hyperthyroxinemia | 6 |
| Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type | 3 |
| Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 3 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 2 |
| Ectodermal Dysplasia 3, Witkop Type | 6 |
| Ectodermal Dysplasia Skin Fragility Syndrome | 4 |
| Ectodermal Dysplasia, 'Pure' Hair-Nail Type | 2 |
| Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema | 2 |
| Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant | 6 |
| Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy | 5 |
| Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant | 3 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 | 3 |
| Ectodermal Dysplasia/Short Stature Syndrome | 6 |
| Ectopia lentis et pupillae | 5 |
| Ectopia Lentis, Isolated Autosomal Recessive | 5 |
| Ectopia Lentis, Isolated, Autosomal Dominant | 16 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 | 13 |
| EDICT Syndrome | 3 |
| Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss | 7 |
| Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies | 6 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 7 |
| Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form | 11 |
| Ehlers-Danlos Syndrome, Classic Like, 2 | 6 |
| Ehlers-Danlos Syndrome, Hydroxylysine-Deficient | 7 |
| Ehlers-Danlos Syndrome, Musculocontractural Type | 9 |
| Ehlers-Danlos Syndrome, Musculocontractural Type 2 | 4 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 | 5 |
| Ehlers-Danlos Syndrome, Progeroid Type, 2 | 7 |
| Ehlers-Danlos Syndrome, Type 1 | 12 |
| Ehlers-Danlos Syndrome, Type 2 | 6 |
| Ehlers-Danlos Syndrome, Type 3 | 1 |
| Ehlers-Danlos Syndrome, Type 4 | 9 |
| Ehlers-Danlos Syndrome, Type VIIA and VIIB | 13 |
| Ehlers-Danlos Syndrome, Type VIIC | 4 |
| Ehlers-Danlos Syndrome, Type VIII | 6 |
| Ehlers-Danlos-Like Syndrome Due To Tenascin-X Deficiency | 5 |
| Eiken Skeletal Dysplasia | 3 |
| Elliptocytosis 1 | 2 |
| Elliptocytosis 2 | 4 |
| Elliptocytosis 3 | 2 |
| Ellis-van Creveld Syndrome | 16 |
| Elsahy-Waters syndrome | 3 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked | 9 |
| Emery-Dreifuss muscular dystrophy 3, AR | 11 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant | 5 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant | 1 |
| Emery-Dreifuss Muscular Dystrophy 7, AD | 4 |
| Emery-Dreifuss muscular dystrophy-6 | 6 |
| Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 6 |
| Encephalocraniocutaneous lipomatosis | 10 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 6 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 | 3 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6 | 3 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | 3 |
| Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 8 |
| Encephalopathy, Acute, Infection-Induced, 3, Suceptibility To | 4 |
| Encephalopathy, Acute, Infection-Induced, 4, Susceptibility To | 9 |
| Encephalopathy, Lethal, Due To Defective Mitochondrial And Peroxisomal Fission | 12 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations | 8 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 5 |
| Encephalopathy, porphyria-related | 2 |
| Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | 5 |
| Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 4 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 5 |
| Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | 4 |
| Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | 1 |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | 4 |
| Encephalopathy, progressive, with or without lipodystrophy | 8 |
| Endocrine-Cerebroosteodysplasia | 8 |
| Endometrial Cancer | 18 |
| Endplate Acetylcholinesterase Deficiency | 4 |
| Enhanced S-Cone Syndrome | 2 |
| Enlarged Vestibular Aqueduct Syndrome | 11 |
| Enterokinase Deficiency | 1 |
| Epidermal Nevus | 25 |
| Epidermodysplasia Verruciformis | 3 |
| Epidermodysplasia verruciformis 2 | 2 |
| Epidermodysplasia verruciformis 3 | 3 |
| Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy | 7 |
| Epidermolysis Bullosa Herpetiformis, Dowling-Meara | 4 |
| Epidermolysis Bullosa Pruriginosa | 5 |
| Epidermolysis Bullosa Simplex | 2 |
| Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy | 3 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation | 2 |
| Epidermolysis bullosa simplex with nail dystrophy | 6 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia | 6 |
| Epidermolysis Bullosa Simplex, Autosomal Recessive | 3 |
| Epidermolysis Bullosa Simplex, Autosomal Recessive 2 | 5 |
| Epidermolysis Bullosa Simplex, Cockayne-Touraine Type | 8 |
| Epidermolysis Bullosa Simplex, Koebner Type | 4 |
| Epidermolysis Bullosa Simplex, Ogna Type | 7 |
| Epidermolysis Bullosa With Pyloric Atresia | 8 |
| Epidermolysis bullosa, junctional 2A, intermediate | 1 |
| Epidermolysis bullosa, junctional 2B, severe | 1 |
| Epidermolysis bullosa, junctional 4, intermediate | 1 |
| Epidermolysis bullosa, junctional 5A, intermediate | 1 |
| Epidermolysis Bullosa, Lethal Acantholytic | 6 |
| Epidermolysis Bullosa, Pretibial | 5 |
| Epidermolytic Hyperkeratosis | 5 |
| Epidermolytic hyperkeratosis 2A, autosomal dominant | 1 |
| Epidermolytic hyperkeratosis 2B, autosomal recessive | 1 |
| Epilepsy, Childhood Absence 2 | 5 |
| Epilepsy, Childhood Absence 5 | 10 |
| Epilepsy, Childhood Absence 6 | 1 |
| Epilepsy, early-onset, 3, with or without developmental delay | 1 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent | 3 |
| Epilepsy, early-onset, with or without developmental delay | 1 |
| Epilepsy, familial focal, with variable foci | 5 |
| Epilepsy, Familial Focal, with Variable Foci 2 | 3 |
| Epilepsy, Familial Focal, with Variable Foci 3 | 3 |
| Epilepsy, familial focal, with variable foci 4 | 4 |
| Epilepsy, Familial Temporal Lobe, 7 | 5 |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 6 |
| Epilepsy, Hearing Loss, and Mental Retardation Syndrome | 5 |
| Epilepsy, Idiopathic Generalized 10 | 4 |
| Epilepsy, Idiopathic Generalized 8 | 5 |
| Epilepsy, Idiopathic Generalized 9 | 2 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 | 3 |
| Epilepsy, idiopathic generalized, susceptibility to, 14 | 3 |
| Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 | 10 |
| Epilepsy, Juvenile Myoclonic 5 | 7 |
| Epilepsy, juvenile myoclonic, susceptibility to, 10 | 6 |
| Epilepsy, Lateral Temporal Lobe, Autosomal Dominant | 4 |
| Epilepsy, myoclonic, familial adult, 4 | 1 |
| Epilepsy, Myoclonic, Familial Adult, 5 | 2 |
| Epilepsy, nocturnal frontal lobe, 5 | 6 |
| Epilepsy, Nocturnal Frontal Lobe, Type 1 | 3 |
| Epilepsy, Nocturnal Frontal Lobe, Type 3 | 3 |
| Epilepsy, Nocturnal Frontal Lobe, Type 4 | 3 |
| Epilepsy, Progressive Myoclonic 3 | 9 |
| Epilepsy, Progressive Myoclonic 4, With Or Without Renal Failure | 8 |
| Epilepsy, Progressive Myoclonic 6 | 7 |
| Epilepsy, Progressive Myoclonic 7 | 3 |
| Epilepsy, Progressive Myoclonic, 10 | 1 |
| Epilepsy, progressive myoclonic, 11 | 1 |
| Epilepsy, progressive myoclonic, 12 | 1 |
| Epilepsy, Progressive Myoclonic, 8 | 3 |
| Epilepsy, Progressive Myoclonic, 9 | 4 |
| Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | 9 |
| Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | 1 |
| Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders | 6 |
| Epileptic encephalopathy, childhood-onset | 6 |
| Epileptic encephalopathy, early infantile, 1 | 12 |
| Epileptic Encephalopathy, Early Infantile, 10 | 7 |
| Epileptic Encephalopathy, Early Infantile, 11 | 10 |
| Epileptic Encephalopathy, Early Infantile, 12 | 6 |
| Epileptic Encephalopathy, Early Infantile, 13 | 9 |
| Epileptic encephalopathy, early infantile, 14 | 6 |
| Epileptic Encephalopathy, Early Infantile, 15 | 5 |
| Epileptic Encephalopathy, Early Infantile, 16 | 10 |
| Epileptic Encephalopathy, Early Infantile, 17 | 7 |
| Epileptic encephalopathy, early infantile, 18 | 6 |
| Epileptic Encephalopathy, Early Infantile, 19 | 7 |
| Epileptic Encephalopathy, Early Infantile, 2 | 9 |
| Epileptic Encephalopathy, Early Infantile, 21 | 3 |
| Epileptic Encephalopathy, Early Infantile, 23 | 3 |
| Epileptic Encephalopathy, Early Infantile, 24 | 8 |
| Epileptic Encephalopathy, Early Infantile, 25 | 8 |
| Epileptic Encephalopathy, Early Infantile, 26 | 6 |
| Epileptic Encephalopathy, Early Infantile, 27 | 12 |
| Epileptic Encephalopathy, Early Infantile, 28 | 7 |
| Epileptic Encephalopathy, Early Infantile, 29 | 6 |
| Epileptic Encephalopathy, Early Infantile, 3 | 6 |
| Epileptic Encephalopathy, Early Infantile, 31 | 5 |
| Epileptic Encephalopathy, Early Infantile, 32 | 7 |
| Epileptic Encephalopathy, Early Infantile, 33 | 4 |
| Epileptic Encephalopathy, Early Infantile, 34 | 3 |
| Epileptic Encephalopathy, Early Infantile, 35 | 5 |
| Epileptic Encephalopathy, Early Infantile, 36 | 8 |
| Epileptic Encephalopathy, Early Infantile, 37 | 5 |
| Epileptic Encephalopathy, Early Infantile, 38 | 3 |
| Epileptic Encephalopathy, Early Infantile, 39 | 6 |
| Epileptic Encephalopathy, Early Infantile, 40 | 3 |
| Epileptic Encephalopathy, Early Infantile, 41 | 5 |
| Epileptic Encephalopathy, Early Infantile, 42 | 8 |
| Epileptic Encephalopathy, Early Infantile, 43 | 9 |
| Epileptic Encephalopathy, Early Infantile, 44 | 4 |
| Epileptic Encephalopathy, Early Infantile, 45 | 5 |
| Epileptic Encephalopathy, Early Infantile, 46 | 6 |
| Epileptic Encephalopathy, Early Infantile, 47 | 4 |
| Epileptic Encephalopathy, Early Infantile, 48 | 5 |
| Epileptic Encephalopathy, Early Infantile, 49 | 3 |
| Epileptic Encephalopathy, Early Infantile, 5 | 8 |
| Epileptic Encephalopathy, Early Infantile, 50 | 5 |
| Epileptic Encephalopathy, Early Infantile, 51 | 6 |
| Epileptic encephalopathy, early infantile, 52 | 7 |
| Epileptic Encephalopathy, Early Infantile, 53 | 8 |
| Epileptic Encephalopathy, Early Infantile, 54 | 6 |
| Epileptic Encephalopathy, Early Infantile, 55 | 5 |
| Epileptic Encephalopathy, Early Infantile, 56 | 4 |
| Epileptic encephalopathy, early infantile, 57 | 3 |
| Epileptic Encephalopathy, Early Infantile, 58 | 4 |
| Epileptic Encephalopathy, Early Infantile, 59 | 4 |
| Epileptic encephalopathy, early infantile, 60 | 4 |
| Epileptic encephalopathy, early infantile, 61 | 2 |
| Epileptic Encephalopathy, Early Infantile, 62 | 6 |
| Epileptic encephalopathy, early infantile, 63 | 3 |
| Epileptic encephalopathy, early infantile, 64 | 6 |
| Epileptic encephalopathy, early infantile, 65 | 4 |
| Epileptic encephalopathy, early infantile, 66 | 3 |
| Epileptic encephalopathy, early infantile, 67 | 4 |
| Epileptic encephalopathy, early infantile, 68 | 3 |
| Epileptic encephalopathy, early infantile, 69 | 3 |
| Epileptic Encephalopathy, Early Infantile, 7 | 8 |
| Epileptic encephalopathy, early infantile, 70 | 3 |
| Epileptic encephalopathy, early infantile, 71 | 5 |
| Epileptic encephalopathy, early infantile, 72 | 2 |
| Epileptic encephalopathy, early infantile, 73 | 2 |
| Epileptic encephalopathy, early infantile, 74 | 5 |
| Epileptic encephalopathy, early infantile, 75 | 4 |
| Epileptic encephalopathy, early infantile, 76 | 4 |
| Epileptic encephalopathy, early infantile, 77 | 5 |
| Epileptic encephalopathy, early infantile, 78 | 1 |
| Epileptic Encephalopathy, Early Infantile, 8 | 7 |
| Epileptic encephalopathy, early infantile, 80 | 3 |
| Epileptic encephalopathy, early infantile, 81 | 5 |
| Epileptic encephalopathy, early infantile, 82 | 3 |
| Epileptic encephalopathy, early infantile, 83 | 3 |
| Epileptic encephalopathy, early infantile, 85, with or without midline brain defects | 8 |
| Epileptic Encephalopathy, Early Infantile, 9 | 7 |
| Epileptic Encephalopathy, Infantile or Early Childhood, 1 | 3 |
| Epileptic Encephalopathy, Infantile or Early Childhood, 2 | 6 |
| Epileptic Encephalopathy, Infantile or Early Childhood, 3 | 6 |
| Epiphyseal chondrodysplasia, Miura type | 5 |
| Epiphyseal dysplasia, multiple, 7 | 8 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness | 15 |
| Episodic Ataxia Type 1 | 7 |
| Episodic Ataxia Type 2 | 8 |
| Episodic Ataxia, Type 5 | 2 |
| Episodic Ataxia, Type 6 | 6 |
| Episodic ataxia, type 9 | 5 |
| Episodic Kinesigenic Dyskinesia 1 | 9 |
| Episodic Pain Syndrome, Familial, 2 | 5 |
| Episodic Pain Syndrome, Familial, 3 | 5 |
| Epithelial recurrent erosion dystrophy | 2 |
| Epstein Syndrome | 3 |
| Erythrocyte Amp Deaminase Deficiency | 1 |
| Erythrocyte Lactate Transporter Defect | 3 |
| Erythrocytosis 6 | 1 |
| Erythrocytosis, 7 | 2 |
| Erythrocytosis, Familial, 2 | 8 |
| Erythrocytosis, familial, 5 | 3 |
| Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE | 3 |
| Erythroderma, Ichthyosiform, Congenital Reticular | 4 |
| Erythrokeratodermia Variabilis Et Progressiva | 5 |
| Erythrokeratodermia variabilis et progressiva 2 | 1 |
| Erythrokeratodermia variabilis et progressiva 3 | 10 |
| Erythrokeratodermia variabilis et progressiva 4 | 1 |
| Erythrokeratodermia veriabilis et progressiva 6 | 1 |
| Erythropoietic Protoporphyria | 4 |
| Escobar Syndrome | 5 |
| Esophageal Cancer | 16 |
| Essential Hypertension | 10 |
| Essential Pentosuria | 1 |
| Essential Thrombocythemia | 7 |
| Essential tremor, hereditary, 4 | 1 |
| Essential tremor, hereditary, 5 | 2 |
| Estrogen resistance | 1 |
| Ethylmalonic Encephalopathy | 8 |
| eukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | 4 |
| Even-plus syndrome | 4 |
| Exercise intolerance, riboflavin-responsive | 4 |
| Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa Of Siemens-Like | 1 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis | 1 |
| Exostoses, Multiple, Type I | 7 |
| Exostoses, Multiple, Type II | 10 |
| Extraoral halitosis due to MTO deficiency | 1 |
| Exudative Vitreoretinopathy 2, X-Linked | 12 |
| Exudative Vitreoretinopathy 4 | 11 |
| Exudative Vitreoretinopathy 5 | 5 |
| Exudative Vitreoretinopathy 6 | 5 |
| Exudative Vitreoretinopathy 7 | 8 |
| Fabry's Disease | 16 |
| Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | 2 |
| Facial Paresis, Hereditary Congenital, 3 | 1 |
| Facioscapulohumeral Muscular Dystrophy 2 | 7 |
| Facioscapulohumeral muscular dystrophy 4, digenic | 2 |
| Factor H Deficiency | 7 |
| Factor V And Factor VIII, Combined Deficiency Of, 1 | 6 |
| Factor V And Factor VIII, Combined Deficiency Of, 2 | 4 |
| Factor V Deficiency | 6 |
| Factor VII Deficiency | 6 |
| Factor X Deficiency | 6 |
| Factor XII Deficiency Disease | 2 |
| Factor XIII, A Subunit, Deficiency Of | 8 |
| Factor XIII, B Subunit, Deficiency Of | 6 |
| Failure Of Tooth Eruption, Primary | 3 |
| Fallot Tetralogy | 34 |
| Familial Adenomatous Polyposis 3 | 5 |
| Familial Adenomatous Polyposis 4 | 4 |
| Familial Amyloid Nephropathy With Urticaria And Deafness | 11 |
| Familial Benign Hypercalcemia | 7 |
| Familial Benign Pemphigus | 1 |
| Familial Cancer Of Breast | 38 |
| Familial Cold Autoinflammatory Syndrome 2 | 6 |
| Familial cold autoinflammatory syndrome 3 | 5 |
| Familial cold autoinflammatory syndrome 4 | 5 |
| Familial Cold Urticaria | 11 |
| Familial Colorectal Cancer | 42 |
| Familial digital arthropathy with brachydactyly | 6 |
| Familial Dysautonomia | 8 |
| Familial Encephalopathy With Neuroserpin Inclusion Bodies | 2 |
| Familial Erythrocytosis, 1 | 5 |
| Familial Exudative Vitreoretinopathy | 7 |
| Familial Gynecomastia, Due To Increased Aromatase Activity | 6 |
| Familial Hemiplegic Migraine Type 1 | 10 |
| Familial Hemiplegic Migraine Type 2 | 7 |
| Familial Hemiplegic Migraine Type 3 | 9 |
| Familial Hypercholesterolemia | 8 |
| Familial Hypertriglyceridemia | 2 |
| Familial Hypertrophic Cardiomyopathy 1 | 12 |
| Familial Hypertrophic Cardiomyopathy 10 | 6 |
| Familial Hypertrophic Cardiomyopathy 11 | 5 |
| Familial Hypertrophic Cardiomyopathy 12 | 7 |
| Familial Hypertrophic Cardiomyopathy 13 | 7 |
| Familial Hypertrophic Cardiomyopathy 14 | 9 |
| Familial Hypertrophic Cardiomyopathy 15 | 6 |
| Familial Hypertrophic Cardiomyopathy 16 | 4 |
| Familial Hypertrophic Cardiomyopathy 18 | 9 |
| Familial Hypertrophic Cardiomyopathy 2 | 7 |
| Familial Hypertrophic Cardiomyopathy 20 | 6 |
| Familial Hypertrophic Cardiomyopathy 3 | 6 |
| Familial Hypertrophic Cardiomyopathy 4 | 8 |
| Familial Hypertrophic Cardiomyopathy 6 | 9 |
| Familial Hypertrophic Cardiomyopathy 7 | 7 |
| Familial Hypertrophic Cardiomyopathy 8 | 5 |
| Familial Hypertrophic Cardiomyopathy 9 | 8 |
| Familial Hypoalphalipoproteinemia | 5 |
| Familial Hypobetalipoproteinemia | 5 |
| Familial Hypokalemia-Hypomagnesemia | 5 |
| Familial Infantile Myasthenia | 6 |
| Familial Juvenile Hyperuricemic Nephropathy | 5 |
| Familial Limb-Girdle Myasthenic Syndrome With Tubular Aggregates | 5 |
| Familial Mediterranean Fever | 7 |
| Familial Mediterranean Fever, Autosomal Dominant | 7 |
| Familial Medullary Thyroid Carcinoma | 10 |
| Familial Non-Hodgkin Lymphoma | 9 |
| Familial Porphyria Cutanea Tarda | 4 |
| Familial Renal Glucosuria | 2 |
| Familial Renal Hypouricemia | 4 |
| Familial Type 5 Hyperlipoproteinemia | 2 |
| Familial Visceral Amyloidosis, Ostertag Type | 9 |
| Fanconi Anemia, Complementation Group A | 15 |
| Fanconi Anemia, Complementation Group B | 11 |
| Fanconi Anemia, Complementation Group C | 13 |
| Fanconi Anemia, Complementation Group D1 | 20 |
| Fanconi Anemia, Complementation Group D2 | 11 |
| Fanconi Anemia, Complementation Group E | 10 |
| Fanconi Anemia, Complementation Group F | 11 |
| Fanconi Anemia, Complementation Group G | 11 |
| Fanconi Anemia, Complementation Group I | 9 |
| Fanconi Anemia, Complementation Group J | 15 |
| Fanconi Anemia, Complementation Group L | 10 |
| Fanconi Anemia, Complementation Group M | 2 |
| Fanconi Anemia, Complementation Group N | 21 |
| Fanconi Anemia, Complementation Group O | 12 |
| Fanconi Anemia, Complementation Group P | 11 |
| Fanconi anemia, Complementation Group Q | 14 |
| Fanconi Anemia, Complementation Group R | 7 |
| Fanconi Anemia, Complementation Group S | 13 |
| Fanconi Anemia, Complementation Group T | 7 |
| Fanconi Anemia, Complementation Group U | 9 |
| Fanconi Anemia, Complementation Group V | 7 |
| Fanconi Anemia, Complementation Group W | 7 |
| Fanconi renotubular syndrome 1 | 6 |
| Fanconi Renotubular Syndrome 2 | 6 |
| Fanconi renotubular syndrome 3 | 3 |
| Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | 7 |
| Fanconi renotubular syndrome 5 | 4 |
| Fanconi-Bickel Syndrome | 14 |
| Farber's Lipogranulomatosis | 11 |
| Fazio-Londe Disease | 10 |
| Febrile Seizures, Familial, 4 | 4 |
| Fechtner Syndrome | 3 |
| Feingold Syndrome 1 | 10 |
| Feingold Syndrome 2 | 6 |
| Fetal Akinesia Deformation Sequence | 8 |
| Fetal akinesia deformation sequence 2 | 1 |
| Fetal akinesia deformation sequence 3 | 1 |
| Fetal akinesia deformation sequence 4 | 1 |
| Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 4 |
| Fetal Hemoglobin Quantitative Trait Locus 1 | 1 |
| Fetal Hemoglobin Quantitative Trait Locus 6 | 5 |
| Fg Syndrome | 17 |
| FG Syndrome 2 | 22 |
| FG Syndrome 4 | 10 |
| Fibrochondrogenesis | 11 |
| Fibrochondrogenesis 2 | 10 |
| Fibrodysplasia Ossificans Progressiva | 7 |
| Fibromatosis, gingival, 5 | 3 |
| Fibromuscular dysplasia, multifocal | 3 |
| 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 | 7 |
| Fibrosis of extraocular muscles, congenital, 5 | 2 |
| Fibular Hypoplasia And Complex Brachydactyly | 7 |
| Filippi syndrome | 6 |
| FILS syndrome | 9 |
| FINCA syndrome | 2 |
| Finnish Congenital Nephrotic Syndrome | 3 |
| Fish-Eye Disease | 5 |
| Fleck Corneal Dystrophy | 4 |
| Fleck Retina, Familial Benign | 6 |
| Fliedner-Zweier syndrome | 1 |
| Floating-Harbor Syndrome | 9 |
| Focal Cortical Dysplasia Of Taylor | 14 |
| Focal Dermal Hypoplasia | 7 |
| Focal facial dermal dysplasia 3, Setleis type | 1 |
| Focal Segmental Glomerulosclerosis 1 | 4 |
| Focal segmental glomerulosclerosis 10 | 3 |
| Focal Segmental Glomerulosclerosis 2 | 5 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To | 4 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To | 5 |
| Focal Segmental Glomerulosclerosis 5 | 2 |
| Focal Segmental Glomerulosclerosis 6 | 2 |
| Focal Segmental Glomerulosclerosis 8 | 4 |
| Focal Segmental Glomerulosclerosis 9 | 6 |
| Focal segmental glomerulosclerosis and neurodevelopmental syndrome | 3 |
| Folate Malabsorption, Hereditary | 10 |
| Follicle-Stimulating Hormone Deficiency, Isolated | 7 |
| Fontaine progeroid syndrome | 4 |
| Foveal Hypoplasia 2, with or without Optic Nerve Misrouting and/or Anterior Segment Dysgenesis | 6 |
| Foveal Hypoplasia And Presenile Cataract Syndrome | 11 |
| Fragile X Syndrome | 4 |
| Fragile X Tremor/Ataxia Syndrome | 4 |
| Frank Ter Haar Syndrome | 7 |
| Fraser Syndrome | 16 |
| Fraser Syndrome 2 | 16 |
| Fraser Syndrome 3 | 11 |
| Frasier Syndrome | 12 |
| Freeman-Sheldon Syndrome | 10 |
| Friedreich's Ataxia | 3 |
| Frontometaphyseal Dysplasia | 19 |
| Frontometaphyseal Dysplasia 2 | 2 |
| Frontonasal Dysplasia | 5 |
| Frontonasal Dysplasia 2 | 5 |
| Frontonasal Dysplasia 3 | 2 |
| Frontotemporal Dementia | 10 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis | 4 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 8 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 | 9 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 | 11 |
| Frontotemporal Dementia, Ubiquitin-Positive | 11 |
| Fructose-Biphosphatase Deficiency | 6 |
| Fructosuria, Essential | 1 |
| Fucosidosis | 8 |
| Fuhrmann Syndrome | 3 |
| Fukuyama Congenital Muscular Dystrophy | 15 |
| Fumarase Deficiency | 12 |
| Gabriele-de Vries syndrome | 2 |
| Galactosemia | 9 |
| Galactosemia IV | 1 |
| Galactosialidosis | 9 |
| Galactosylceramide Beta-Galactosidase Deficiency | 11 |
| Gallbladder Disease 4 | 4 |
| Galloway-Mowat Syndrome | 8 |
| Galloway-Mowat syndrome 10 | 2 |
| Galloway-Mowat Syndrome 2, X-linked | 7 |
| Galloway-Mowat Syndrome 3 | 9 |
| Galloway-Mowat Syndrome 4 | 7 |
| Galloway-Mowat Syndrome 5 | 6 |
| Galloway-Mowat syndrome 6 | 7 |
| Galloway-Mowat syndrome 7 | 3 |
| Galloway-Mowat syndrome 8 | 3 |
| Galloway-Mowat syndrome 9 | 2 |
| Gamma Aminobutyric Acid Transaminase Deficiency | 4 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To | 3 |
| Ganglioside Sialidase Deficiency | 6 |
| Gangliosidosis GM1 Type 3 | 8 |
| GAPO Syndrome | 2 |
| Gastric adenocarcinoma and proximal polyposis of the stomach | 7 |
| Gastric Lymphoma | 3 |
| Gastrointestinal defects and immunodeficiency syndrome | 5 |
| Gastrointestinal defects and immunodeficiency syndrome 2 | 1 |
| Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial | 7 |
| Gastrointestinal Stromal Tumors | 14 |
| Gastrointestinal ulceration, recurrent, with dysfunctional platelets | 1 |
| GATA-1-Related Thrombocytopenia With Dyserythropoiesis | 13 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency | 6 |
| Gaucher Disease, Perinatal Lethal | 9 |
| Gaucher Disease, Type 1 | 9 |
| Gaucher Disease, Type II | 9 |
| Gaucher Disease, Type III | 8 |
| Gaucher Disease, Type IIIc | 9 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis | 3 |
| Gaze palsy, familial horizontal, with progressive scoliosis, 2 | 3 |
| Geleophysic Dysplasia | 5 |
| Geleophysic Dysplasia 2 | 16 |
| Geleophysic dysplasia 3 | 5 |
| Generalized Dominant Dystrophic Epidermolysis Bullosa | 5 |
| Generalized Epilepsy And Paroxysmal Dyskinesia | 5 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 | 8 |
| Generalized epilepsy with febrile seizures plus, type 10 | 7 |
| Generalized epilepsy with febrile seizures plus, type 12 | 1 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 | 10 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 3 | 1 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 | 4 |
| Generalized Epilepsy with Febrile Seizures Plus, Type 9 | 6 |
| Genitopatellar Syndrome | 7 |
| Genitourinary and/or/brain malformation syndrome | 6 |
| Geroderma Osteodysplasticum | 6 |
| Ghosal Syndrome | 6 |
| Giant Axonal Neuropathy | 7 |
| Giant axonal neuropathy 2, autosomal dominant | 1 |
| Gilbert Syndrome | 4 |
| Gillessen-Kaesbach-Nishimura syndrome | 8 |
| Glanzmann thrombasthenia 2 | 3 |
| Glanzmann's Thrombasthenia | 12 |
| Glass Syndrome | 5 |
| Glaucoma 1, open angle, F | 1 |
| Glaucoma 1, Open Angle, G | 3 |
| Glaucoma 1, Open Angle, O | 2 |
| Glaucoma 3, Primary Congenital, D | 10 |
| Glaucoma 3, primary congenital, E | 2 |
| Glaucoma, Congenital | 5 |
| Glaucoma, Normal Tension, Susceptibility To | 9 |
| Glaucoma, primary closed-angle | 5 |
| Glioma Susceptibility 1 | 16 |
| Glioma Susceptibility 2 | 14 |
| Glioma Susceptibility 3 | 15 |
| Glioma Susceptibility 9 | 5 |
| Global developmental delay with speech and behavioral abnormalities | 1 |
| Global developmental delay, progressive ataxia, and elevated glutamine | 5 |
| Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria | 1 |
| Glomerulopathy With Fibronectin Deposits 2 | 3 |
| Glomerulosclerosis, Focal Segmental, 7 | 9 |
| GLOW syndrome, somatic mosaic | 8 |
| Glucocorticoid Deficiency 2 | 3 |
| Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | 3 |
| Glucocorticoid deficiency 5 | 6 |
| Glucocorticoid Deficiency With Achalasia | 3 |
| Glucocorticoid Resistance | 5 |
| Glucocorticoid-Remediable Aldosteronism | 3 |
| Glut1 Deficiency Syndrome 1 | 11 |
| Glut1 Deficiency Syndrome 2 | 11 |
| Glutamate Formiminotransferase Deficiency | 2 |
| Glutamine Deficiency, Congenital | 4 |
| Glutaric Aciduria III | 1 |
| Glutaric Aciduria, Type 1 | 10 |
| Glutaric Aciduria, Type 2 | 20 |
| Glutathione Peroxidase Deficiency | 1 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To | 6 |
| Gluthathione Synthetase Deficiency | 6 |
| Glycerol Kinase Deficiency | 5 |
| Glycine Encephalopathy | 8 |
| Glycine encephalopathy 2 | 1 |
| Glycine encephalopathy with normal serum glycine | 3 |
| Glycine N-Methyltransferase Deficiency | 4 |
| Glycogen Storage Disease 0, Liver | 5 |
| Glycogen Storage Disease 0, Muscle | 6 |
| Glycogen Storage Disease Of Heart, Lethal Congenital | 9 |
| Glycogen Storage Disease Type Ia | 6 |
| Glycogen Storage Disease Type Ib | 10 |
| Glycogen Storage Disease Type Ic | 9 |
| Glycogen Storage Disease Type II | 15 |
| Glycogen Storage Disease Type III | 10 |
| Glycogen Storage Disease Type IV | 11 |
| Glycogen Storage Disease Type IXa1 | 6 |
| Glycogen Storage Disease Type IXc | 4 |
| Glycogen Storage Disease Type IXd | 8 |
| Glycogen Storage Disease Type V | 7 |
| Glycogen Storage Disease Type VI | 4 |
| Glycogen Storage Disease Type VII | 8 |
| Glycogen Storage Disease Type X | 6 |
| Glycogen Storage Disease Type XI | 5 |
| Glycogen Storage Disease Type XII | 5 |
| Glycogen Storage Disease Type XIII | 5 |
| Glycogen Storage Disease Type XV | 6 |
| Glycogen Storage DiseaseType IXb | 7 |
| Glycosylphosphatidylinositol biosynthesis defect 11 | 4 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 8 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 3 |
| Glycosylphosphatidylinositol biosynthesis defect 17 | 4 |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 5 |
| Glycosylphosphatidylinositol biosynthesis defect 21 | 3 |
| Glycosylphosphatidylinositol Deficiency | 4 |
| Gnathodiaphyseal Dysplasia | 4 |
| GNE Myopathy | 9 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors | 12 |
| Goldberg-Shprintzen Megacolon Syndrome | 5 |
| Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 2 |
| Gonadotropin-Independent Familial Sexual Precocity | 6 |
| Gorlin Syndrome | 15 |
| Gout, HPRT-Related | 6 |
| Gracile Bone Dysplasia | 6 |
| GRACILE Syndrome | 7 |
| Graft-Versus-Host Disease, Susceptibility To | 3 |
| Grange syndrome | 4 |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Negative | 7 |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type II | 6 |
| Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome b-Positive, Type III | 6 |
| Granulomatous Disease, Chronic, X-Linked | 9 |
| Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial | 6 |
| Gray Platelet Syndrome | 6 |
| Grebe Syndrome | 7 |
| Greenberg Dysplasia | 9 |
| Greig Cephalopolysyndactyly Syndrome | 14 |
| Griscelli Syndrome Type 1 | 8 |
| Griscelli Syndrome Type 2 | 13 |
| Griscelli Syndrome Type 3 | 6 |
| Groenouw Corneal Dystrophy Type I | 2 |
| Growth Hormone Deficiency, Isolated Partial | 1 |
| Growth hormone deficiency, isolated, type V | 1 |
| Growth hormone insensitivity with immune dysregulation 2, autosomal dominant | 2 |
| Growth Hormone Insensitivity With Immunodeficiency | 3 |
| Growth restriction, severe, with distinctive facies | 1 |
| Growth Retardation, Developmental Delay, Coarse Facies, And Early Death | 3 |
| Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | 1 |
| Gtp Cyclohydrolase I Deficiency | 5 |
| Gyrate Atrophy of Choroid and Retina with or without Ornithinemia | 7 |
| Haim-Munk Syndrome | 7 |
| Hajdu-Cheney Syndrome | 13 |
| Hamamy syndrome | 1 |
| Hand Foot Uterus Syndrome | 8 |
| Hao-Fountain syndrome | 1 |
| Harderoporphyria | 1 |
| Hardikar syndrome | 2 |
| Harlequin Ichthyosis | 6 |
| Hartnup Disease | 3 |
| Hartsfield syndrome | 18 |
| Hashimoto Thyroiditis | 4 |
| Hawkinsinuria | 4 |
| Hay-Wells Syndrome | 12 |
| Heart and brain malformation syndrome | 3 |
| Heart-Hand Syndrome, Slovenian Type | 9 |
| Heimler syndrome 1 | 13 |
| Heimler syndrome 2 | 11 |
| Heinz Body Anemias | 4 |
| Helicobacter Pylori Infection, Susceptibility To | 3 |
| HELIX syndrome | 2 |
| Helsmoortel-van der Aa Syndrome | 6 |
| Hemangioma, Capillary Infantile | 5 |
| Hematuria, benign familial, 2 | 2 |
| Heme Oxygenase 1 Deficiency | 4 |
| Hemifacial myohyperplasia, somatic | 1 |
| Hemifacial myohyperplasia, somatic | 1 |
| Hemochromatosis Type 1 | 10 |
| Hemochromatosis Type 2 | 3 |
| Hemochromatosis Type 2B | 3 |
| Hemochromatosis Type 3 | 3 |
| Hemochromatosis Type 4 | 4 |
| Hemochromatosis Type 5 | 2 |
| Hemoglobin H Disease | 5 |
| Hemolytic anemia due to elevated adenosine deaminase | 5 |
| Hemolytic anemia due to G6PD deficiency | 7 |
| Hemolytic anemia due to glutathione reductase deficiency | 2 |
| Hemolytic Anemia Due To Hexokinase Deficiency | 6 |
| Hemolytic Anemia due to Triosephosphate Isomerase Deficiency | 5 |
| Hemolytic anemia, congenital, X-linked | 1 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency | 4 |
| Hemolytic uremic syndrome, atypical, susceptibility to, 2 | 3 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 | 10 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 | 10 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 | 9 |
| Hemophagocytic lymphohistiocytosis, Familial, 5 | 10 |
| Hemophilia A, Congenital | 2 |
| Hemophilia A, Congenital | 6 |
| Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts | 9 |
| Hengel-Maroofian-Schols syndrome | 1 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 | 9 |
| Hennekam lymphangiectasia-lymphedema syndrome 3 | 4 |
| Hennekam Syndrome | 12 |
| Heparin Cofactor II Deficiency | 1 |
| Hepatic Adenomas, Familial | 4 |
| Hepatic Lipase Deficiency | 1 |
| Hepatic Venoocclusive Disease With Immunodeficiency | 3 |
| Hepatitis B Virus, Susceptibility To | 5 |
| Hepatitis C Virus, Susceptibility To | 6 |
| Hereditary Angioneurotic Edema | 5 |
| Hereditary Cerebral Amyloid Angiopathy, Icelandic Type | 2 |
| Hereditary Coproporphyria | 6 |
| Hereditary Diffuse Gastric Cancer | 20 |
| Hereditary Factor IX Deficiency Disease | 5 |
| Hereditary Factor XI Deficiency Disease | 5 |
| Hereditary Fructose Intolerance | 6 |
| Hereditary Gingival Fibromatosis | 8 |
| Hereditary Hemorrhagic Telangiectasia Type 2 | 7 |
| Hereditary Insensitivity To Pain With Anhidrosis | 7 |
| Hereditary Leiomyomatosis And Renal Cell Cancer | 12 |
| Hereditary Liability To Pressure Palsies | 3 |
| Hereditary Lymphedema Type 1C | 4 |
| Hereditary Lymphedema Type I | 6 |
| Hereditary Mixed Polyposis Syndrome 2 | 8 |
| Hereditary Myopathy With Early Respiratory Failure | 5 |
| Hereditary Neuralgic Amyotrophy | 2 |
| Hereditary Neutrophilia | 4 |
| Hereditary Nonpolyposis Colorectal Cancer Type 4 | 21 |
| Hereditary Nonpolyposis Colorectal Cancer Type 5 | 22 |
| Hereditary Nonpolyposis Colorectal Cancer Type 6 | 9 |
| Hereditary Nonpolyposis Colorectal Cancer Type 7 | 4 |
| Hereditary Nonpolyposis Colorectal Cancer Type 8 | 20 |
| Hereditary Pyropoikilocytosis | 3 |
| Hereditary Sideroblastic Anemia | 6 |
| Hereditary Spherocytosis | 4 |
| Hermansky-Pudlak Syndrome 1 | 13 |
| Hermansky-Pudlak Syndrome 10 | 11 |
| Hermansky-Pudlak syndrome 11 | 1 |
| Hermansky-Pudlak Syndrome 2 | 15 |
| Hermansky-Pudlak Syndrome 3 | 13 |
| Hermansky-Pudlak Syndrome 4 | 13 |
| Hermansky-Pudlak Syndrome 5 | 12 |
| Hermansky-Pudlak Syndrome 6 | 12 |
| Hermansky-Pudlak Syndrome 7 | 13 |
| Hermansky-Pudlak Syndrome 8 | 13 |
| Hermansky-Pudlak Syndrome 9 | 13 |
| Herpes Simplex Encephalitis 1 | 3 |
| Herpes Simplex Encephalitis 2 | 4 |
| Heterotaxy, visceral, 10, autosomal, with male infertility | 1 |
| Heterotaxy, Visceral, 2, Autosomal | 1 |
| Heterotaxy, Visceral, 4, Autosomal | 6 |
| Heterotaxy, Visceral, 5 | 8 |
| Heterotaxy, visceral, 6, autosomal recessive | 4 |
| Heterotaxy, Visceral, 7, Autosomal | 3 |
| Heterotaxy, visceral, 8, autosomal | 5 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 1 |
| Heterotaxy, Visceral, X-Linked | 8 |
| Heterotopia, Periventricular, Autosomal Recessive | 9 |
| Heterotopia, Periventricular, Ehlers-Danlos Variant | 1 |
| Heyn-Sproul-Jackson syndrome | 7 |
| Hiatt-Neu-Cooper neurodevelopmental syndrome | 2 |
| Hidradenitis Suppurativa, Familial | 3 |
| Hidrotic Ectodermal Dysplasia Syndrome | 5 |
| High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 12 | 1 |
| High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 | 1 |
| Hijazi-Reis syndrome | 1 |
| Hip dysplasia, Beukes type | 2 |
| Hirschsprung Disease 1 | 12 |
| Hirschsprung Disease 2 | 9 |
| Hirschsprung Disease 3 | 4 |
| Hirschsprung Disease 4 | 10 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction | 4 |
| Histidinemia | 1 |
| Histiocytosis-lymphadenopathy plus syndrome | 9 |
| Hodgkin Lymphoma | 1 |
| Holoprosencephaly 11 | 6 |
| Holoprosencephaly 12, with or without pancreatic agenesis | 4 |
| Holoprosencephaly 13, X-linked | 5 |
| Holoprosencephaly 2 | 6 |
| Holoprosencephaly 3 | 12 |
| Holoprosencephaly 4 | 7 |
| Holoprosencephaly 5 | 7 |
| Holoprosencephaly 7 | 15 |
| Holoprosencephaly 9 | 13 |
| Holoprosencephaly Sequence | 2 |
| Holt-Oram Syndrome | 8 |
| Homocystinuria Due To Cbs Deficiency | 14 |
| Homocystinuria due to MTHFR Deficiency | 11 |
| Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblE Complementation Type | 7 |
| Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type | 7 |
| Humerofemoral hypoplasia with radiotibial ray deficiency | 1 |
| Huntington Disease | 2 |
| Huriez syndrome | 1 |
| Hurler Syndrome | 7 |
| Hutchinson-Gilford Syndrome | 10 |
| Hyaline Fibromatosis Syndrome | 3 |
| Hydrocephalus, congenital communicating, 1 | 2 |
| Hydrocephalus, Nonsyndromic, 1 | 6 |
| Hydrocephalus, Nonsyndromic, 3 | 4 |
| Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 | 7 |
| Hydrocephalus, normal pressure, 1 | 3 |
| Hydrolethalus Syndrome 1 | 1 |
| Hydrolethalus Syndrome 2 | 15 |
| Hydrops, lactic acidosis, and sideroblastic anemia | 4 |
| Hydroxykynureninuria | 4 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 4 |
| Hyper-IgE recurrent infection syndrome 4, autosomal recessive | 4 |
| Hyper-IgE recurrent infection syndrome 5, autosomal recessive | 3 |
| Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections | 2 |
| Hyperaldosteronism, familial, type II | 5 |
| Hyperaldosteronism, Familial, Type III | 4 |
| Hyperaldosteronism, Familial, Type IV | 3 |
| Hyperalphalipoproteinemia | 1 |
| Hyperalphalipoproteinemia 2 | 1 |
| Hyperammonemia due to carbonic anhydrase VA deficiency | 5 |
| Hyperammonemia, Type III | 5 |
| Hyperbiliverdinemia | 1 |
| Hypercalcemia, infantile, 2 | 5 |
| Hypercalciuria, Absorptive, 2 | 3 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant | 4 |
| Hypercholanemia, Familial | 4 |
| Hypercholanemia, familial 2 | 1 |
| Hypercholesterolemia, Autosomal Dominant, 3 | 4 |
| Hypercholesterolemia, Autosomal Dominant, Type B | 6 |
| Hypercholesterolemia, Autosomal Recessive | 3 |
| Hyperekplexia 2 | 2 |
| Hyperekplexia 3 | 2 |
| Hyperekplexia 4 | 3 |
| Hyperekplexia Hereditary | 4 |
| Hyperferritinemia Cataract Syndrome | 7 |
| Hyperglycinuria | 3 |
| Hyperimmunoglobulin D With Periodic Fever | 13 |
| Hyperimmunoglobulin E Recurrent Infection Syndrome, Autosomal Recessive | 9 |
| Hyperimmunoglobulin E Syndrome | 12 |
| Hyperinsulinemic Hypoglycemia Familial 5 | 6 |
| Hyperinsulinemic Hypoglycemia, Familial 3 | 5 |
| Hyperinsulinemic Hypoglycemia, Familial 6 | 10 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 | 9 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 | 8 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 | 9 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 | 5 |
| Hyperkalemic Periodic Paralysis; HYPP | 6 |
| Hyperlipidemia, Familial Combined | 3 |
| Hyperlipoproteinemia, Type 1D | 2 |
| Hyperlipoproteinemia, Type I | 4 |
| Hyperlipoproteinemia, Type III | 4 |
| Hyperlysinemia | 3 |
| Hypermanganesemia with dystonia 1 | 3 |
| Hypermanganesemia with dystonia 2 | 3 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency | 6 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency | 9 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | 6 |
| Hyperostosis cranalis interna | 2 |
| Hyperparathyroidism 1 | 6 |
| Hyperparathyroidism 2 | 6 |
| Hyperparathyroidism 4 | 1 |
| Hyperparathyroidism, Neonatal Severe Primary | 6 |
| Hyperparathyroidism, transient neonatal | 3 |
| Hyperphenylalaninemia, Mild, Non-BH4-Deficient | 7 |
| Hyperphosphatasemia Tarda | 3 |
| Hyperphosphatasemia With Bone Disease | 3 |
| Hyperphosphatasia With Mental Retardation | 8 |
| Hyperphosphatasia with mental retardation syndrome 2 | 7 |
| Hyperphosphatasia with mental retardation syndrome 3 | 3 |
| Hyperphosphatasia with mental retardation syndrome 4 | 5 |
| Hyperphosphatasia with Mental Retardation Syndrome 6 | 4 |
| Hyperpigmentation with or without Hypopigmentation | 4 |
| Hyperproinsulinemia | 4 |
| Hyperprolactinemia | 2 |
| Hypertelorism, Teebi type | 4 |
| Hypertension and Brachydactyly Syndrome | 5 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy | 5 |
| Hyperthyroidism, Familial Gestational | 3 |
| Hyperthyroidism, Nonautoimmune | 3 |
| Hypertrichotic Osteochondrodysplasia | 5 |
| Hypertriglyceridemia, transient infantile | 2 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant | 2 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 | 3 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis | 5 |
| Hyperuricemic Nephropathy, Familial Juvenile, 2 | 5 |
| Hyperuricemic Nephropathy, Familial Juvenile, 4 | 5 |
| Hypervalinemia or hyperleucine-isoleucinemia | 1 |
| Hypoalphalipoproteinemia, primary, 2, intermediate | 2 |
| Hypobetalipoproteinemia | 5 |
| Hypobetalipoproteinemia, Familial, 2 | 2 |
| Hypocalcemia, autosomal dominant | 9 |
| Hypocalcemia, autosomal dominant 2 | 4 |
| Hypocalciuric Hypercalcemia, Familial, Type III | 5 |
| Hypocalciuric hypercalcemia, type II | 4 |
| Hypochondroplasia | 15 |
| Hypoglycemia, Neonatal, Simulating Foetopathia Diabetica | 8 |
| Hypogonadotropic Hypogonadism 10 with or without Anosmia | 6 |
| Hypogonadotropic Hypogonadism 11 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 12 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 13 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 14 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 15 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 16 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 17 with or without Anosmia | 5 |
| Hypogonadotropic Hypogonadism 18 with or without Anosmia | 8 |
| Hypogonadotropic Hypogonadism 19 with or without Anosmia | 4 |
| Hypogonadotropic Hypogonadism 20 with or without Anosmia | 5 |
| Hypogonadotropic Hypogonadism 21 with Anosmia | 4 |
| Hypogonadotropic Hypogonadism 22, with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 7 with or without Anosmia | 10 |
| Hypogonadotropic Hypogonadism 8 with or without Anosmia | 7 |
| Hypogonadotropic Hypogonadism 9 with or without Anosmia | 7 |
| Hypohidrotic Ectodermal Dysplasia With Immune Deficiency | 7 |
| Hypohidrotic X-Linked Ectodermal Dysplasia | 3 |
| Hypokalemic Periodic Paralysis | 3 |
| Hypokalemic Periodic Paralysis, Type 2 | 5 |
| Hypomagnesemia 1, Intestinal | 5 |
| Hypomagnesemia 2, Renal | 8 |
| Hypomagnesemia 4, Renal | 5 |
| Hypomagnesemia 5, Renal, With Ocular Involvement | 9 |
| Hypomagnesemia 6, Renal | 5 |
| Hypomagnesemia, seizures, and mental retardation | 4 |
| Hypomagnesemia, seizures, and mental retardation 2 | 6 |
| Hypomyelinating neuropathy, congenital, 2 | 2 |
| Hypomyelinating neuropathy, congenital, 3 | 5 |
| Hypomyelination And Congenital Cataract | 6 |
| Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity | 6 |
| Hypoparathyroidism Retardation Dysmorphism Syndrome | 7 |
| Hypoparathyroidism, Familial Isolated | 5 |
| Hypoparathyroidism, X-linked | 1 |
| Hypophosphatemic Rickets, Autosomal Dominant | 7 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 | 8 |
| Hypophosphatemic Rickets, X-Linked Dominant | 8 |
| Hypophosphatemic Rickets, X-Linked Recessive | 6 |
| Hypophosphatemic Vitamin D Refractory Rickets | 5 |
| Hypopigmentation, organomegaly, and delayed myelination and development | 5 |
| Hypoplastic Left Heart Syndrome | 10 |
| Hypoplastic Left Heart Syndrome 2 | 10 |
| Hypoplastic or Aplastic Tibia with Polydactyly | 5 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration | 5 |
| Hypoproteinemia, Hypercatabolic | 4 |
| Hypospadias 1, X-Linked | 4 |
| Hypospadias 2, X-Linked | 5 |
| Hypospadias 3, Autosomal | 2 |
| Hypotaurinemic retinal degeneration and cardiomyopathy | 1 |
| Hypothalamic Hamartomas | 6 |
| Hypothryoidism, Congenital, Nongoitrous 4 | 3 |
| Hypothyroidism, Central, and Testicular Enlargement | 3 |
| Hypothyroidism, Congenital, Due To Thyroid Dysgenesis | 4 |
| Hypothyroidism, congenital, nongoitrous, 1 | 2 |
| Hypothyroidism, Congenital, Nongoitrous, 5 | 9 |
| Hypothyroidism, Congenital, Nongoitrous, 6 | 3 |
| Hypotonia, ataxia, and delayed development syndrome | 5 |
| Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | 1 |
| Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 2 |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies | 7 |
| Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 | 8 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 5 |
| Hypotonia-Cystinuria Syndrome | 1 |
| Hypotrichosis 12 | 1 |
| Hypotrichosis 14 | 2 |
| Hypotrichosis 2 | 1 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome | 3 |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 |
| I Cell Disease | 7 |
| Ichthyosiform Erythroderma, Nonbullous Congenital | 4 |
| Ichthyosis Bullosa Of Siemens | 4 |
| Ichthyosis Follicularis Atrichia Photophobia Syndrome | 10 |
| Ichthyosis Histrix, Curth-Macklin Type | 4 |
| Ichthyosis histrix, Lambert type | 1 |
| Ichthyosis Lamellar 3 | 4 |
| Ichthyosis Prematurity Syndrome | 3 |
| Ichthyosis Vulgaris | 2 |
| Ichthyosis, annular epidermolytic 2 | 1 |
| Ichthyosis, congenital, autosomal recessive 10 | 5 |
| Ichthyosis, Congenital, Autosomal Recessive 11 | 2 |
| Ichthyosis, congenital, autosomal recessive 12 | 1 |
| Ichthyosis, congenital, autosomal recessive 13 | 2 |
| Ichthyosis, congenital, autosomal recessive 14 | 2 |
| Ichthyosis, congenital, autosomal recessive 3 | 4 |
| Ichthyosis, congenital, autosomal recessive 4A | 6 |
| Ichthyosis, Congenital, Autosomal Recessive 8 | 3 |
| Ichthyosis, Congenital, Autosomal Recessive 9 | 3 |
| Ichthyosis, Congenital, Autosomal Recessive, Nipal4-Related | 3 |
| Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis | 5 |
| Ichthyosis, follicular, with atrichia and photophobia syndrome 2 | 1 |
| Ichthyosis, Hystrix-Like, With Deafness | 4 |
| Ichthyosis, lamellar, autosomal dominant | 1 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis | 2 |
| Ichthyosis, spastic quadriplegia, and mental retardation | 6 |
| Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies | 3 |
| Idiopathic Fibrosing Alveolitis, Chronic Form | 3 |
| Idiopathic Hypercalcemia Of Infancy | 2 |
| Idiopathic Hypereosinophilic Syndrome | 5 |
| Ige Responsiveness, Atopic | 1 |
| IL12RB1 Deficiency | 5 |
| Imagawa-Matsumoto syndrome | 1 |
| IMAGE Syndrome | 15 |
| IMAGE-I syndrome | 8 |
| Imerslund-Grasbeck syndrome 2 | 1 |
| Iminoglycinuria | 3 |
| Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1 | 4 |
| Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2 | 9 |
| Immune dysregulation, autoimmunity, and autoinflammation | 1 |
| Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia | 1 |
| Immunodeficiency 101 (varicella zoster virus-specific) | 1 |
| Immunodeficiency 102 | 3 |
| Immunodeficiency 105, severe combined | 1 |
| Immunodeficiency 106, susceptibility to viral infections | 1 |
| Immunodeficiency 108 with autoinflammation | 3 |
| Immunodeficiency 109 with lymphoproliferation | 1 |
| Immunodeficiency 112 | 1 |
| Immunodeficiency 115 with autoinflammation | 1 |
| Immunodeficiency 11A | 7 |
| Immunodeficiency 11B with atopic dermatitis | 7 |
| Immunodeficiency 12 | 4 |
| Immunodeficiency 120 | 2 |
| Immunodeficiency 122 | 1 |
| Immunodeficiency 13 | 6 |
| Immunodeficiency 14 (Activated PI3K-Delta Syndrome; APDS) | 11 |
| Immunodeficiency 14B, autosomal recessive | 3 |
| Immunodeficiency 15 | 4 |
| Immunodeficiency 15A | 3 |
| Immunodeficiency 16 | 3 |
| Immunodeficiency 17, CD3 gamma deficient | 4 |
| Immunodeficiency 18 | 4 |
| Immunodeficiency 19 | 4 |
| Immunodeficiency 22 | 3 |
| Immunodeficiency 23 | 9 |
| Immunodeficiency 24 | 4 |
| Immunodeficiency 26, with or without neurologic abnormalities | 4 |
| Immunodeficiency 27B, mycobacteriosis, AD | 4 |
| Immunodeficiency 28, mycobacteriosis | 6 |
| Immunodeficiency 29, mycobacteriosis | 4 |
| Immunodeficiency 31A, mycobacteriosis, autosomal dominant | 6 |
| Immunodeficiency 32A, mycobacteriosis, autosomal dominant | 4 |
| Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive | 4 |
| Immunodeficiency 36 (Activated PI3K-Delta Syndrome; APDS) | 10 |
| Immunodeficiency 37 | 4 |
| Immunodeficiency 38 | 4 |
| Immunodeficiency 39 | 3 |
| Immunodeficiency 40 | 3 |
| Immunodeficiency 42 | 4 |
| Immunodeficiency 44 | 5 |
| Immunodeficiency 45 | 3 |
| Immunodeficiency 46 | 4 |
| Immunodeficiency 48 | 4 |
| Immunodeficiency 49 | 5 |
| Immunodeficiency 50 | 3 |
| Immunodeficiency 52 | 4 |
| Immunodeficiency 53 | 3 |
| Immunodeficiency 54 | 3 |
| Immunodeficiency 55 | 6 |
| Immunodeficiency 56 | 3 |
| Immunodeficiency 57 | 6 |
| Immunodeficiency 58 | 4 |
| Immunodeficiency 59 and hypoglycemia | 3 |
| Immunodeficiency 60 | 2 |
| Immunodeficiency 61 | 3 |
| Immunodeficiency 62 | 3 |
| Immunodeficiency 63 with lymphoproliferation and autoimmunity | 3 |
| Immunodeficiency 64 | 3 |
| Immunodeficiency 65, susceptibility to viral infections | 3 |
| Immunodeficiency 66 | 4 |
| Immunodeficiency 69, mycobacteriosis | 3 |
| Immunodeficiency 7, TCR-alpha/beta deficient | 3 |
| Immunodeficiency 70 | 2 |
| Immunodeficiency 72 with autoinflammation | 4 |
| Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | 5 |
| Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia | 5 |
| Immunodeficiency 74, COVID19-related, X-linked | 3 |
| Immunodeficiency 75 | 4 |
| Immunodeficiency 76 | 2 |
| Immunodeficiency 78 with autoimmunity and developmental delay | 2 |
| Immunodeficiency 8 | 4 |
| Immunodeficiency 80 with or without cardiomyopathy | 3 |
| Immunodeficiency 82 with systemic inflammation | 3 |
| Immunodeficiency 84 | 3 |
| Immunodeficiency 86, mycobacteriosis | 2 |
| Immunodeficiency 87 and autoimmunity | 2 |
| Immunodeficiency 88 | 3 |
| Immunodeficiency 91 and hyperinflammation | 1 |
| Immunodeficiency 92 | 3 |
| Immunodeficiency 93 and hypertrophic cardiomyopathy | 3 |
| Immunodeficiency 94 with autoinflammation and dysmorphic facies | 2 |
| Immunodeficiency 95 | 3 |
| Immunodeficiency 96 | 1 |
| Immunodeficiency 97 with autoinflammation | 3 |
| Immunodeficiency 98 with autoinflammation, X-linked | 3 |
| Immunodeficiency and Hepatopathy with Cutis Laxa | 11 |
| Immunodeficiency Due To Defect In Cd3-Zeta | 4 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein | 5 |
| Immunodeficiency Due To Ficolin 3 Deficiency | 3 |
| Immunodeficiency With Hyper Igm Type 1 | 8 |
| Immunodeficiency With Hyper IgM Type 2 | 9 |
| Immunodeficiency With Hyper IgM Type 3 | 5 |
| Immunodeficiency With Hyper IgM Type 5 | 7 |
| Immunodeficiency Without Anhidrotic Ectodermal Dysplasia | 2 |
| Immunodeficiency, Common Variable, 1 | 6 |
| Immunodeficiency, common variable, 10 | 9 |
| Immunodeficiency, common variable, 11 | 6 |
| Immunodeficiency, common variable, 12 | 6 |
| Immunodeficiency, common variable, 13 | 8 |
| Immunodeficiency, common variable, 14 | 5 |
| Immunodeficiency, common variable, 15 | 3 |
| Immunodeficiency, Common Variable, 3 | 6 |
| Immunodeficiency, Common Variable, 4 | 6 |
| Immunodeficiency, Common Variable, 5 | 6 |
| Immunodeficiency, Common Variable, 6 | 6 |
| Immunodeficiency, common variable, 7 | 6 |
| Immunodeficiency, Common Variable, 8, with Autoimmunity | 8 |
| Immunodeficiency, developmental delay, and hypohomocysteinemia | 4 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia | 9 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 | 5 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | 3 |
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | 3 |
| Immunodysregulation, Polyendocrinopathy And Enteropathy X-Linked | 7 |
| Immunoglobulin A Deficiency 2 | 5 |
| Immunoglobulin Kappa Light Chain Deficiency | 3 |
| Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities | 7 |
| Inclusion Body Myopathy 3 | 3 |
| Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia | 12 |
| Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 | 2 |
| Inclusion Body Myopathy with Early-Onset Paget Disease without Frontotemporal Dementia 3 | 2 |
| Incontinentia Pigmenti | 9 |
| Indifference To Pain, Congenital, Autosomal Recessive | 6 |
| Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | 4 |
| Infantile cerebellar-retinal degeneration | 11 |
| Infantile Gm1 Gangliosidosis | 9 |
| Infantile Hypophosphatasia | 12 |
| Infantile Liver Failure Syndrome 1 | 4 |
| Infantile Liver Failure Syndrome 2 | 15 |
| Infantile liver failure syndrome 3 | 1 |
| Infantile Nephronophthisis | 13 |
| Infantile Neuroaxonal Dystrophy | 7 |
| Infantile Parkinsonism-Dystonia | 7 |
| Infantile-Onset Ascending Hereditary Spastic Paralysis | 6 |
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | 4 |
| Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 | 1 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations | 5 |
| Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA | 3 |
| Inflammatory bowel disease (Crohn disease) 30 | 2 |
| Inflammatory Bowel Disease 1 | 5 |
| Inflammatory Bowel Disease 13 | 1 |
| Inflammatory Bowel Disease 17 | 3 |
| Inflammatory Bowel Disease 25, Autosomal Recessive | 4 |
| Inflammatory Bowel Disease 28, Autosomal Recessive | 4 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 7 |
| Inflammatory Skin And Bowel Disease, Neonatal | 4 |
| Inflammatory skin and bowel disease, neonatal, 2 | 2 |
| Inosine Triphosphatase Deficiency | 4 |
| Insulin-Like Growth Factor 1 Resistance To | 4 |
| Insulin-Like Growth Factor I Deficiency | 1 |
| Insulin-Resistant Diabetes Mellitus And Acanthosis Nigricans | 5 |
| Insulinomatosis and diabetes mellitus | 3 |
| Intellectual developmental disorder 60 with seizures | 2 |
| Intellectual developmental disorder 61 | 4 |
| Intellectual developmental disorder 62 | 2 |
| Intellectual developmental disorder and retinitis pigmentosa | 1 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 |
| Intellectual developmental disorder with autism and speech delay | 3 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 2 |
| Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 4 |
| Intellectual developmental disorder with cardiac arrhythmia | 3 |
| Intellectual developmental disorder with cardiac defects and dysmorphic facies | 3 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 3 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 |
| Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities | 4 |
| Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 4 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 2 |
| Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | 1 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 |
| Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 3 |
| Intellectual developmental disorder with neuropsychiatric features | 2 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 3 |
| Intellectual developmental disorder with paroxysmal dyskinesia or seizures | 2 |
| Intellectual developmental disorder with poor growth and with or without seizures or ataxia | 2 |
| Intellectual developmental disorder with seizures and language delay | 2 |
| Intellectual developmental disorder with severe speech and ambulation defects | 4 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 2 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 4 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 |
| Intellectual developmental disorder, autosomal dominant 66 | 2 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 |
| Intellectual developmental disorder, autosomal dominant 69 | 1 |
| Intellectual developmental disorder, autosomal dominant 70 | 2 |
| Intellectual developmental disorder, autosomal recessive 70 | 1 |
| Intellectual developmental disorder, autosomal recessive 71 | 1 |
| Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 1 |
| Intellectual developmental disorder, autosomal recessive 77 | 2 |
| Intellectual developmental disorder, autosomal recessive 78 | 1 |
| Intellectual developmental disorder, autosomal recessive 81 | 1 |
| Intellectual developmental disorder, X-linked 108 | 2 |
| Intellectual developmental disorder, X-linked 110 | 1 |
| Intellectual developmental disorder, X-linked 50 | 4 |
| Intellectual developmental disorder, X-linked syndromic, Pilorge type | 1 |
| Intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies | 1 |
| Intellectual developmental disorder, X-linked, syndromic, Armfield type | 2 |
| Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type | 2 |
| Intellectual disability and myopathy syndrome | 1 |
| Interleukin 2 Receptor, Alpha, Deficiency Of | 7 |
| Interleukin 36 Receptor Antagonist Deficiency | 6 |
| Interstitial Lung and Liver Disease | 4 |
| Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital | 8 |
| Intervertebral Disc Disorder | 10 |
| Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked | 16 |
| Intrinsic Factor Deficiency | 2 |
| Invasive Pneumococcal Disease, Recurrent Isolated, 1 | 1 |
| Invasive Pneumococcal Disease, Recurrent Isolated, 2 | 2 |
| IRAK4 Deficiency | 6 |
| Iridogoniodysgenesis Type1 | 12 |
| Iridogoniodysgenesis, Dominant Type | 13 |
| Ischemic Stroke | 5 |
| Isolated Growth Hormone Deficiency Type 1B | 1 |
| Isolated Lutropin Deficiency | 4 |
| Isolated X-Linked Adrenal Hypoplasia Congenita | 9 |
| Isovaleryl-CoA Dehydrogenase Deficiency | 7 |
| Ivic Syndrome | 9 |
| Jaberi-Elahi syndrome | 3 |
| Jackson-Weiss Syndrome | 21 |
| Jalili Syndrome | 6 |
| Jansen de Vries syndrome | 2 |
| Jawad syndrome | 3 |
| Jeffries-Lakhani neurodevelopmental syndrome | 1 |
| Jensen Syndrome | 2 |
| Jervell And Lange-Nielsen Syndrome 2 | 5 |
| Jervell And Lange-Nielson Syndrome | 5 |
| Johanson-Blizzard Syndrome | 7 |
| Joint laxity, short stature, and myopia | 3 |
| Joubert Syndrome | 14 |
| Joubert Syndrome 1 | 14 |
| Joubert Syndrome 10 | 21 |
| Joubert Syndrome 13 | 12 |
| Joubert syndrome 14 | 14 |
| Joubert syndrome 15 | 14 |
| Joubert syndrome 16 | 13 |
| Joubert syndrome 18 | 14 |
| Joubert syndrome 19 | 11 |
| Joubert Syndrome 2 | 14 |
| Joubert syndrome 20 | 11 |
| Joubert Syndrome 21 | 13 |
| Joubert Syndrome 22 | 10 |
| Joubert Syndrome 23 | 11 |
| Joubert Syndrome 24 | 12 |
| Joubert Syndrome 25 | 11 |
| Joubert Syndrome 26 | 7 |
| Joubert Syndrome 27 | 13 |
| Joubert Syndrome 28 | 12 |
| Joubert Syndrome 3 | 14 |
| Joubert Syndrome 30 | 11 |
| Joubert Syndrome 31 | 12 |
| Joubert Syndrome 32 | 11 |
| Joubert Syndrome 33 | 5 |
| Joubert syndrome 35 | 2 |
| Joubert syndrome 38 | 1 |
| Joubert Syndrome 4 | 16 |
| Joubert syndrome 40 | 5 |
| Joubert Syndrome 5 | 18 |
| Joubert Syndrome 6 | 15 |
| Joubert Syndrome 7 | 17 |
| Joubert Syndrome 8 | 15 |
| Joubert Syndrome 9 | 18 |
| Juberg-Hayward syndrome | 3 |
| Junctional Epidermolysis Bullosa | 6 |
| Juvenile Amyotrophic Lateral Sclerosis | 5 |
| Juvenile arthritis | 1 |
| Juvenile GM1 Gangliosidosis | 8 |
| Juvenile Macular Degeneration And Hypotrichosis | 4 |
| Juvenile Myelomonocytic Leukemia | 26 |
| Juvenile Nephropathic Cystinosis | 5 |
| Juvenile Polyposis Syndrome | 17 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome | 15 |
| Juvenile Primary Lateral Sclerosis | 4 |
| Juvenile-Onset Dystonia | 11 |
| Kabuki Syndrome 1 | 24 |
| Kabuki Syndrome 2 | 21 |
| Kahrizi syndrome | 6 |
| Kallmann Syndrome 1 | 13 |
| Kallmann Syndrome 2 | 20 |
| Kallmann Syndrome 3 | 10 |
| Kallmann Syndrome 4 | 9 |
| Kallmann Syndrome 5 | 26 |
| Kallmann Syndrome 6 | 15 |
| Kanzaki Disease | 5 |
| Karyomegalic Tubulointerstitial Nephritis | 3 |
| Kaufman oculocerebrofacial syndrome | 2 |
| Kaya-Barakat-Masson syndrome | 2 |
| KBG Syndrome | 12 |
| Keipert syndrome | 4 |
| Kenny-Caffey Syndrome Type 1 | 7 |
| Kenny-Caffey Syndrome Type 2 | 8 |
| Keppen-Lubinsky syndrome | 4 |
| Keratitis, Hereditary | 7 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant | 5 |
| Keratitis-ichthyosis-deafness syndrome, autosomal recessive | 4 |
| Keratoconus 1 | 6 |
| Keratoderma Palmoplantar Deafness | 5 |
| Keratoderma, palmoplantar, punctate type IA | 1 |
| Keratoderma-ichthyosis-deafness syndrome, autosomal recessive | 2 |
| Keratoendothelitis fugax hereditaria | 8 |
| Keratolytic winter erythema | 1 |
| Keratosis Follicularis | 1 |
| Keratosis Follicularis Spinulosa Decalvans | 7 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma | 6 |
| Keratosis Palmoplantaris Striata 1 | 3 |
| Keratosis Palmoplantaris Striata 3 | 3 |
| Keratosis Palmoplantaris Striata II | 5 |
| Keratosis, Seborrheic | 7 |
| Keutel Syndrome | 3 |
| Kindler's Syndrome | 7 |
| King-Denborough syndrome | 1 |
| KINSSHIP syndrome | 2 |
| Kleefstra syndrome 2 | 3 |
| Klein-Waardenberg's Syndrome | 8 |
| Klippel-Feil Syndrome 1, Autosomal Dominant | 6 |
| Klippel-Feil syndrome 2, autosomal recessive | 4 |
| Klippel-Feil Syndrome 3, Autosomal Dominant | 5 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism | 5 |
| Kniest Dysplasia | 16 |
| Knobloch Syndrome 1 | 12 |
| Knuckle Pads, Deafness And Leukonychia Syndrome | 5 |
| Kohlschutter-Tonz syndrome | 6 |
| Kohlschutter-Tonz syndrome-like | 2 |
| Koolen-De Vries Syndrome | 4 |
| Kosaki overgrowth syndrome | 7 |
| Kowarski Syndrome | 1 |
| Krabbe Disease Atypical Due To Saposin A Deficiency | 7 |
| Kury-Isidor syndrome | 2 |
| L-2-Hydroxyglutaric Aciduria | 9 |
| L-ferritin deficiency, dominant and recessive | 4 |
| Lacrimoauriculodentodigital Syndrome | 24 |
| Lactate Dehydrogenase B Deficiency | 1 |
| LADD syndrome 2 | 5 |
| Lafora Disease | 9 |
| Lamb-Shaffer syndrome | 2 |
| Langer Mesomelic Dysplasia Syndrome | 3 |
| Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia | 3 |
| Laron-Type Isolated Somatotropin Defect | 3 |
| Larsen Syndrome, Dominant Type | 7 |
| Laryngoonychocutaneous Syndrome | 4 |
| Late-Onset Retinal Degeneration | 5 |
| Lateral meningocele syndrome | 6 |
| Lathosterolosis | 4 |
| Lattice Corneal Dystrophy Type 3A | 2 |
| Lattice Corneal Dystrophy Type I | 2 |
| Lattice Corneal Dystrophy Type III | 2 |
| Laurence-Moon syndrome | 4 |
| Laurin-Sandrow Syndrome | 5 |
| Leber Congenital Amaurosis 1 | 8 |
| Leber Congenital Amaurosis 10 | 14 |
| Leber Congenital Amaurosis 11 | 5 |
| Leber Congenital Amaurosis 12 | 6 |
| Leber Congenital Amaurosis 13 | 8 |
| Leber Congenital Amaurosis 14 | 9 |
| Leber Congenital Amaurosis 15 | 5 |
| Leber Congenital Amaurosis 16 | 4 |
| Leber Congenital Amaurosis 17 | 5 |
| Leber Congenital Amaurosis 2 | 5 |
| Leber Congenital Amaurosis 3 | 6 |
| Leber Congenital Amaurosis 4 | 8 |
| Leber Congenital Amaurosis 5 | 7 |
| Leber Congenital Amaurosis 6 | 8 |
| Leber Congenital Amaurosis 7 | 7 |
| Leber Congenital Amaurosis 8 | 5 |
| Leber Congenital Amaurosis 9 | 5 |
| Leber congenital amaurosis with early-onset deafness | 2 |
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 2 |
| Leber-like hereditary optic neuropathy, autosomal recessive 2 | 3 |
| Left Ventricular Noncompaction 1 | 7 |
| Left ventricular noncompaction 10 | 7 |
| Left Ventricular Noncompaction 7 | 5 |
| Left Ventricular Noncompaction 8 | 5 |
| Legg-Calve-Perthes Disease | 15 |
| Legius Syndrome | 9 |
| Leigh Syndrome | 22 |
| Leigh Syndrome, French Canadian Type | 9 |
| Leiner Disease | 3 |
| Leiomyoma, Uterine | 1 |
| Lenz Microphthalmia Syndrome | 10 |
| Lenz-Majewski Hyperostotic Dwarfism | 8 |
| LEOPARD Syndrome | 21 |
| LEOPARD Syndrome 2 | 10 |
| LEOPARD Syndrome 3 | 10 |
| Leprechaunism Syndrome | 6 |
| Leprosy 2 | 2 |
| Leri Weill Dyschondrosteosis | 3 |
| Lesch-Lyhan Syndrome | 7 |
| Lethal Arthrogryposis With Anterior Horn Cell Disease | 5 |
| Lethal Congenital Contractural Syndrome 3 | 2 |
| Lethal Congenital Contracture Syndrome 1 | 6 |
| Lethal congenital contracture syndrome 10 | 3 |
| Lethal congenital contracture syndrome 11 | 4 |
| Lethal Congenital Contracture Syndrome 2 | 2 |
| Lethal congenital contracture syndrome 4 | 3 |
| Lethal Congenital Contracture Syndrome 5 | 5 |
| Lethal congenital contracture syndrome 7 | 5 |
| Lethal congenital contracture syndrome 8 | 3 |
| Lethal congenital contracture syndrome 9 | 1 |
| Lethal Multiple Pterygium Syndrome | 10 |
| Leucine-Induced Hypoglycemia | 6 |
| Leukemia, acute lymphoblastic, susceptibility to, 3 | 2 |
| Leukemia, acute promyelocytic, somatic | 1 |
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic | 5 |
| Leukocyte Adhesion Deficiency Type 1 | 5 |
| Leukocyte Adhesion Deficiency, Type III | 5 |
| Leukodystrophy and acquired microcephaly with or without dystonia | 3 |
| Leukodystrophy, Hypomyelinating 3 | 6 |
| Leukodystrophy, hypomyelinating, 10 | 5 |
| Leukodystrophy, Hypomyelinating, 11 | 6 |
| Leukodystrophy, hypomyelinating, 12 | 4 |
| Leukodystrophy, hypomyelinating, 13 | 2 |
| Leukodystrophy, hypomyelinating, 14 | 3 |
| Leukodystrophy, hypomyelinating, 15 | 6 |
| Leukodystrophy, hypomyelinating, 16 | 2 |
| Leukodystrophy, hypomyelinating, 17 | 4 |
| Leukodystrophy, hypomyelinating, 18 | 4 |
| Leukodystrophy, hypomyelinating, 19, transient infantile | 1 |
| Leukodystrophy, Hypomyelinating, 2 | 5 |
| Leukodystrophy, hypomyelinating, 20 | 1 |
| Leukodystrophy, hypomyelinating, 21 | 1 |
| Leukodystrophy, hypomyelinating, 22 | 1 |
| Leukodystrophy, hypomyelinating, 24 | 1 |
| Leukodystrophy, hypomyelinating, 27 | 1 |
| Leukodystrophy, Hypomyelinating, 4 | 7 |
| Leukodystrophy, Hypomyelinating, 6 | 6 |
| Leukodystrophy, Hypomyelinating, 7, with Or wthout Oligodontia and/or Hypogonadotropic Hypogonadism | 10 |
| Leukodystrophy, Hypomyelinating, 8, with Or without Oligodontia and/or Hypogonadotropic Hypogonadism | 9 |
| Leukodystrophy, Hypomyelinating, 9 | 6 |
| Leukodystrophy, progressive, early childhood-onset | 1 |
| Leukoencephalopathy with Ataxia | 6 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation | 7 |
| Leukoencephalopathy with Dystonia and Motor Neuropathy | 6 |
| Leukoencephalopathy With Vanishing White Matter | 18 |
| Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure | 1 |
| Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure | 1 |
| Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure | 1 |
| Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure | 2 |
| Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | 1 |
| Leukoencephalopathy, brain calcifications, and cysts | 5 |
| Leukoencephalopathy, Cystic, Without Megalencephaly | 4 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 2 |
| Leukoencephalopathy, Diffuse Hereditary, with Spheroids | 9 |
| Leukoencephalopathy, hereditary diffuse, with spheroids 2 | 3 |
| Leukoencephalopathy, porphyria-related | 2 |
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 3 |
| Leukoencephalopathy, Progressive, with Ovarian Failure | 7 |
| Leukonychia Totalis | 1 |
| Lewy Body Dementia | 11 |
| Leydig Cell Hypoplasia, Type I | 3 |
| Li-Campeau syndrome | 2 |
| Li-Fraumeni Syndrome | 27 |
| Li-Fraumeni Syndrome 2 | 12 |
| Li-Ghorgani-Weisz-Hubshman syndrome | 1 |
| Liang-Wang syndrome | 6 |
| Liberfarb syndrome | 4 |
| Lichtenstein-Knorr syndrome | 3 |
| Liddle Syndrome | 5 |
| Liddle syndrome 2 | 1 |
| Liddle syndrome 3 | 1 |
| Liebenberg Syndrome | 5 |
| Lig4 Syndrome | 10 |
| Limb-Girdle Muscular Dystrophy, Type 1A | 5 |
| Limb-Girdle Muscular Dystrophy, Type 1B | 6 |
| Limb-Girdle Muscular Dystrophy, Type 1F | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2A | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2B | 7 |
| Limb-Girdle Muscular Dystrophy, Type 2D | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2E | 5 |
| Limb-Girdle Muscular Dystrophy, Type 2F | 7 |
| Limb-Girdle Muscular Dystrophy, Type 2G | 9 |
| Limb-Girdle Muscular Dystrophy, Type 2H | 10 |
| Limb-Girdle Muscular Dystrophy, Type 2Y | 3 |
| Limb-Mammary Syndrome | 10 |
| Linear Skin Defects with Multiple Congenital Anomalies 2 | 5 |
| Linear skin defects with multiple congenital anomalies 3 | 5 |
| Lipase Deficiency Combined | 2 |
| Lipid Proteinosis | 1 |
| Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency | 6 |
| Lipodystrophy, Congenital Generalized, Type 3 | 7 |
| Lipodystrophy, Congenital Generalized, Type 4 | 7 |
| Lipodystrophy, Familial Partial, Type 2 | 10 |
| Lipodystrophy, Familial Partial, Type 3 | 5 |
| Lipodystrophy, Familial Partial, Type 4 | 3 |
| Lipodystrophy, familial partial, type 5 | 3 |
| Lipodystrophy, familial partial, type 6 | 4 |
| Lipoprotein Glomerulopathy | 4 |
| Lipoyltransferase 1 Deficiency | 6 |
| Lisch epithelial corneal dystrophy | 1 |
| Lissencephaly 1 | 9 |
| Lissencephaly 10 | 3 |
| Lissencephaly 2 | 7 |
| Lissencephaly 3 | 8 |
| Lissencephaly 4 | 8 |
| Lissencephaly 5 | 7 |
| Lissencephaly 6, with microcephaly | 7 |
| Lissencephaly 7 with cerebellar hypoplasia | 3 |
| Lissencephaly 8 | 5 |
| Lissencephaly 9 with complex brainstem malformation | 6 |
| Liver Cancer | 23 |
| Liver Failure Acute Infantile | 4 |
| Loeys-Dietz Syndrome 1 | 13 |
| Loeys-Dietz Syndrome 2 | 14 |
| Loeys-Dietz Syndrome 3 | 10 |
| Loeys-Dietz Syndrome 4 | 10 |
| Loeys-Dietz Syndrome 5 | 11 |
| Loeys-Dietz syndrome 6 | 1 |
| Long QT Syndrome 1 | 7 |
| Long QT Syndrome 10 | 7 |
| Long QT Syndrome 11 | 7 |
| Long QT Syndrome 12 | 7 |
| Long QT Syndrome 13 | 7 |
| Long QT Syndrome 14 | 6 |
| Long QT Syndrome 15 | 7 |
| Long QT Syndrome 2 | 6 |
| Long QT Syndrome 3 | 6 |
| Long QT Syndrome 4 | 9 |
| Long QT Syndrome 5 | 7 |
| Long QT Syndrome 6 | 7 |
| Long QT syndrome 8 | 8 |
| Long QT Syndrome 9 | 9 |
| Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | 13 |
| Lopes-Maciel-Rodan syndrome | 1 |
| Lowe Syndrome | 13 |
| Lower urinary tract obstruction, congenital | 2 |
| Lowry-Wood syndrome | 4 |
| Lucey-Driscoll Syndrome | 3 |
| Lujan-Fryns Syndrome | 15 |
| Lung Cancer | 31 |
| Lung disease, immunodeficiency, and chromosome breakage syndrome | 3 |
| Luo-Schoch-Yamamoto syndrome | 1 |
| Luscan-Lumish Syndrome | 6 |
| Lymphangioleiomyomatosis | 11 |
| Lymphatic malformation 12 | 1 |
| Lymphatic malformation 7 | 4 |
| Lymphatic malformation 9 | 1 |
| Lymphedema, Hereditary, ID | 1 |
| Lymphedema, Hereditary, III | 6 |
| Lymphedema, Primary, With Myelodysplasia | 8 |
| Lymphoproliferative Syndrome 2 | 4 |
| Lymphoproliferative syndrome 3 | 2 |
| Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 | 7 |
| Lymphoproliferative Syndrome, X-Linked, 1 | 11 |
| Lymphoproliferative Syndrome, X-Linked, 2 | 10 |
| Lynch Syndrome I | 22 |
| Lynch Syndrome II | 20 |
| Lysinuric Protein Intolerance | 8 |
| Lysosomal Acid Lipase Deficiency | 9 |
| Macrocephaly, acquired, with impaired intellectual development | 2 |
| Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis | 6 |
| Macrocephaly, dysmorphic facies, and psychomotor retardation | 4 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 1 |
| Macrocephaly/Autism Syndrome | 20 |
| Macrocephaly/megalencephaly syndrome, autosomal recessive | 2 |
| Macrodactyly, somatic | 7 |
| Macroglobulinemia, Waldenstrom, somatic | 2 |
| Macrothrombocytopenia And Progressive Sensorineural Deafness | 2 |
| Macrothrombocytopenia, Autosomal Dominant, TUBB1-Related | 4 |
| Macrothrombocytopenia, isolated, 2, autosomal dominant | 2 |
| Macular Corneal Dystrophy Type I | 6 |
| Macular degeneration, age-related, 13, susceptibility to | 2 |
| Macular degeneration, age-related, 14, reduced risk of | 4 |
| Macular degeneration, age-related, 15, susceptibility to | 2 |
| Macular Degeneration, Age-Related, 2 | 3 |
| Macular Degeneration, Early-Onset | 5 |
| Macular Degeneration, X-Linked Atrophic | 11 |
| Macular Dystrophy with Central Cone Involvement | 8 |
| Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 | 3 |
| Macular dystrophy, patterned, 3 | 2 |
| Macular Dystrophy, Retinal, 2 | 4 |
| Macular Dystrophy, Vitelliform, 4 | 6 |
| Macular Dystrophy, Vitelliform, 5 | 2 |
| Macular Dystrophy, Vitelliform, Adult-Onset | 6 |
| Majeed Syndrome | 8 |
| Malaria, Susceptibility To Malaria, Resistance To, Included | 10 |
| Malignant Hyperthermia | 7 |
| Malignant Hyperthermia Susceptibility Type 5 | 4 |
| Malignant Mesothelioma | 13 |
| Malonyl-CoA Decarboxylase Deficiency | 9 |
| Malouf Syndrome | 13 |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 8 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy | 9 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy | 5 |
| Mandibulofacial dysostosis with alopecia | 1 |
| Mandibulofacial dysostosis, Guion-Almeida type | 12 |
| Manitoba Oculotrichoanal Syndrome | 12 |
| Mannose-Binding Protein Deficiency | 4 |
| Maple Syrup Urine Disease | 11 |
| Maple syrup urine disease, mild variant | 1 |
| Maple syrup urine disease, type Ib | 1 |
| Maple syrup urine disease, type II | 1 |
| Marden Walker Like Syndrome | 2 |
| Marden-Walker Syndrome | 5 |
| Marfan lipodystrophy syndrome | 16 |
| Marfan Syndrome | 19 |
| Marinesco-Sjogren Syndrome | 9 |
| Marshall Syndrome | 15 |
| Marshall-Smith Syndrome | 6 |
| Martsolf Syndrome | 9 |
| Martsolf syndrome 2 | 4 |
| MASA Syndrome | 9 |
| Masp2 Deficiency | 4 |
| Mass Syndrome | 16 |
| Mast Syndrome | 4 |
| Mastocytosis, cutaneous | 7 |
| Maturity-Onset Diabetes Of The Young, Type 1 | 11 |
| Maturity-Onset Diabetes Of The Young, Type 10 | 7 |
| Maturity-Onset Diabetes Of The Young, Type 11 | 6 |
| Maturity-onset diabetes of the young, type 13 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 14 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 2 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 3 | 8 |
| Maturity-Onset Diabetes Of The Young, Type 4 | 8 |
| Maturity-Onset Diabetes Of The Young, Type 5 | 16 |
| Maturity-Onset Diabetes Of The Young, Type 6 | 6 |
| Maturity-Onset Diabetes Of The Young, Type 7 | 5 |
| Maturity-Onset Diabetes Of The Young, Type 8 | 1 |
| Maturity-Onset Diabetes Of The Young, Type 9 | 6 |
| May-Hegglin Anomaly | 12 |
| Mccune-Albright Syndrome | 1 |
| Mckusick Kaufman Syndrome | 13 |
| McLeod Syndrome | 5 |
| Meacham Syndrome | 10 |
| Meckel Syndrome 1 | 15 |
| Meckel Syndrome 10 | 11 |
| Meckel syndrome 11 | 10 |
| Meckel Syndrome 12 | 7 |
| Meckel Syndrome 13 | 9 |
| Meckel syndrome 14 | 1 |
| Meckel Syndrome 2 | 13 |
| Meckel Syndrome 3 | 14 |
| Meckel Syndrome 4 | 16 |
| Meckel Syndrome 5 | 17 |
| Meckel Syndrome 6 | 16 |
| Meckel Syndrome 7 | 13 |
| Meckel Syndrome 8 | 14 |
| Meckel Syndrome 9 | 14 |
| Meconium ileus | 5 |
| MECP2 Duplication Syndrome | 8 |
| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | 11 |
| MEDNIK Syndrome | 4 |
| Medullary Cystic Kidney Disease 1 | 3 |
| Medullary Cystic Kidney Disease 2 | 3 |
| Medulloblastoma | 27 |
| Meesmann Corneal Dystrophy | 4 |
| Meesmann corneal dystrophy 2 | 1 |
| Meester-Loeys syndrome | 5 |
| Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | 3 |
| Megabladder, congenital | 1 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome | 5 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 4 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 | 1 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 | 1 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 1 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts | 8 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A | 9 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Mental Retardation | 9 |
| Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic | 14 |
| Megalencephaly-polydactyly syndrome | 1 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 | 12 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 | 11 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 | 9 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency | 6 |
| Megaloblastic Anemia Due To Inborn Errors Of Metabolism | 4 |
| Megaloblastic anemia, folate-responsive | 1 |
| Megalocornea 1, X-linked | 1 |
| MEHMO Syndrome | 3 |
| Meier-Gorlin Syndrome 1 | 4 |
| Meier-Gorlin Syndrome 2 | 4 |
| Meier-Gorlin Syndrome 3 | 4 |
| Meier-Gorlin Syndrome 4 | 5 |
| Meier-Gorlin Syndrome 5 | 4 |
| Meier-Gorlin syndrome 6 | 1 |
| Meier-Gorlin syndrome 7 | 1 |
| Melanoma Astrocytoma Syndrome | 6 |
| Melanoma, Cutaneous Malignant 2 | 8 |
| Melanoma, Cutaneous Malignant 3 | 7 |
| Melanoma, Cutaneous Malignant, 9 | 9 |
| Melanoma, Cutaneous Malignant, Susceptibility to, 10 | 9 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 9 |
| Melanoma-Pancreatic Cancer Syndrome | 8 |
| Melnick-Needles Syndrome | 18 |
| Melorheostosis | 4 |
| MEND Syndrome | 12 |
| Meningioma, Familial | 29 |
| Menke-Hennekam syndrome 1 | 13 |
| Menke-Hennekam syndrome 2 | 9 |
| Menkes Kinky-Hair Syndrome | 19 |
| Mental Retardation 105 | 1 |
| Mental Retardation and Distinctive Facial Features with or without Cardiac Defects | 8 |
| Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia | 11 |
| Mental Retardation With Language Impairment And Autistic Features | 8 |
| Mental Retardation, Autosomal Dominant 1 | 9 |
| Mental Retardation, Autosomal Dominant 13; MRD13 | 12 |
| Mental Retardation, Autosomal Dominant 18 | 4 |
| Mental Retardation, Autosomal dominant 19 | 7 |
| Mental Retardation, Autosomal Dominant 21 | 6 |
| Mental retardation, autosomal dominant 22 | 5 |
| Mental Retardation, Autosomal Dominant 23 | 8 |
| Mental Retardation, Autosomal Dominant 24 | 6 |
| Mental Retardation, Autosomal Dominant 26 | 3 |
| Mental Retardation, Autosomal Dominant 29 | 7 |
| Mental Retardation, Autosomal Dominant 30 | 3 |
| Mental Retardation, Autosomal Dominant 31 | 8 |
| Mental retardation, autosomal dominant 32 | 6 |
| Mental retardation, autosomal dominant 33 | 1 |
| Mental retardation, autosomal dominant 34 | 1 |
| Mental retardation, autosomal dominant 35 | 4 |
| Mental Retardation, Autosomal Dominant 36 | 1 |
| Mental retardation, autosomal dominant 38 | 4 |
| Mental Retardation, Autosomal Dominant 39 | 4 |
| Mental retardation, autosomal dominant 40 | 6 |
| Mental Retardation, Autosomal Dominant 41 | 4 |
| Mental Retardation, Autosomal Dominant 42 | 3 |
| Mental Retardation, Autosomal Dominant 43 | 3 |
| Mental Retardation, Autosomal Dominant 44 | 5 |
| Mental retardation, autosomal dominant 45 | 3 |
| Mental retardation, autosomal dominant 46 | 3 |
| Mental retardation, autosomal dominant 47 | 2 |
| Mental retardation, autosomal dominant 48 | 2 |
| Mental Retardation, Autosomal Dominant 49 | 5 |
| Mental Retardation, Autosomal Dominant 5 | 6 |
| Mental Retardation, Autosomal Dominant 50 | 5 |
| Mental Retardation, Autosomal Dominant 51 | 3 |
| Mental Retardation, Autosomal Dominant 52 | 5 |
| Mental retardation, autosomal dominant 53 | 1 |
| Mental retardation, autosomal dominant 54 | 3 |
| Mental Retardation, Autosomal Dominant 55, with Seizures | 4 |
| Mental Retardation, Autosomal Dominant 56 | 5 |
| Mental retardation, autosomal dominant 57 | 3 |
| Mental retardation, autosomal dominant 58 | 1 |
| Mental Retardation, Autosomal Dominant 6 | 12 |
| Mental Retardation, Autosomal Dominant 7 | 7 |
| Mental Retardation, Autosomal Dominant 8 | 6 |
| Mental Retardation, Autosomal Dominant 9 | 9 |
| Mental Retardation, Autosomal Dominant, 27 | 10 |
| Mental Retardation, Autosomal Recessive 1 | 1 |
| Mental Retardation, Autosomal Recessive 12 | 5 |
| Mental Retardation, Autosomal Recessive 13 | 5 |
| Mental Retardation, Autosomal Recessive 14 | 2 |
| Mental Retardation, Autosomal Recessive 15 | 5 |
| Mental Retardation, Autosomal Recessive 18 | 1 |
| Mental Retardation, Autosomal Recessive 2 | 2 |
| Mental Retardation, Autosomal Recessive 3 | 2 |
| Mental retardation, autosomal recessive 34, with variant lissencephaly | 3 |
| Mental Retardation, Autosomal Recessive 36 | 3 |
| Mental retardation, autosomal recessive 38 | 1 |
| Mental retardation, autosomal recessive 40 | 1 |
| Mental retardation, autosomal recessive 41 | 3 |
| Mental retardation, autosomal recessive 42 | 5 |
| Mental Retardation, Autosomal Recessive 43 | 1 |
| Mental Retardation, Autosomal Recessive 44 | 1 |
| Mental Retardation, Autosomal Recessive 46 | 3 |
| Mental Retardation, Autosomal Recessive 47 | 2 |
| Mental retardation, autosomal recessive 48 | 2 |
| Mental retardation, autosomal recessive 49 | 3 |
| Mental retardation, autosomal recessive 5 | 3 |
| Mental Retardation, Autosomal Recessive 53 | 6 |
| Mental retardation, autosomal recessive 55 | 3 |
| Mental retardation, autosomal recessive 57 | 5 |
| Mental Retardation, Autosomal Recessive 58 | 2 |
| Mental Retardation, Autosomal Recessive 6 | 4 |
| Mental retardation, autosomal recessive 61 | 1 |
| Mental retardation, autosomal recessive 63 | 1 |
| Mental retardation, autosomal recessive 64 | 1 |
| Mental retardation, autosomal recessive 65 | 2 |
| Mental retardation, autosomal recessive 66 | 1 |
| Mental retardation, autosomal recessive 67 | 2 |
| Mental retardation, autosomal recessive 68 | 2 |
| Mental Retardation, Autosomal Recessive 7 | 4 |
| Mental retardation, autosomal recessive, 37 | 3 |
| Mental retardation, autosomal recessive, 52 | 1 |
| Mental Retardation, Fra12a Type | 1 |
| Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations | 8 |
| Mental Retardation, X-Linked 1/78 | 8 |
| Mental Retardation, X-linked 100 | 3 |
| Mental Retardation, X-linked 101 | 2 |
| Mental Retardation, X-Linked 102 | 10 |
| Mental Retardation, X-linked 103 | 2 |
| Mental Retardation, X-linked 104 | 2 |
| Mental retardation, X-linked 106 | 4 |
| Mental retardation, X-linked 107 | 1 |
| Mental Retardation, X-linked 12/35 | 3 |
| Mental Retardation, X-Linked 19 | 4 |
| Mental Retardation, X-Linked 21 | 5 |
| Mental Retardation, X-Linked 3 (Methylmalonic Acidemia and Homocysteinemia, cblX Type) | 8 |
| Mental Retardation, X-Linked 30 | 4 |
| Mental Retardation, X-Linked 41 | 2 |
| Mental Retardation, X-Linked 46 | 1 |
| Mental Retardation, X-linked 49 | 7 |
| Mental Retardation, X-Linked 58 | 1 |
| Mental Retardation, X-linked 61 | 3 |
| Mental Retardation, X-Linked 63 | 5 |
| Mental Retardation, X-Linked 72 | 8 |
| Mental Retardation, X-Linked 9 | 3 |
| Mental Retardation, X-Linked 90 | 4 |
| Mental Retardation, X-Linked 93 | 4 |
| Mental Retardation, X-Linked 96 | 2 |
| Mental Retardation, X-Linked 97 | 2 |
| Mental Retardation, X-linked 98 | 6 |
| Mental Retardation, X-linked 99 | 5 |
| Mental retardation, X-linked 99, Syndromic, Female-Restricted | 5 |
| Mental retardation, X-linked syndromic, Turner type | 7 |
| Mental Retardation, X-linked, FRAXE Type | 3 |
| Mental Retardation, X-Linked, Syndromic 10 | 1 |
| Mental Retardation, X-Linked, Syndromic 13 | 8 |
| Mental Retardation, X-Linked, Syndromic 14 | 7 |
| Mental Retardation, X-linked, Syndromic 32 | 1 |
| Mental Retardation, X-linked, Syndromic 33 | 8 |
| Mental Retardation, X-linked, Syndromic 34 | 5 |
| Mental Retardation, X-linked, Syndromic, 35 | 5 |
| Mental Retardation, X-linked, Syndromic, Bain Type | 4 |
| Mental Retardation, X-Linked, Syndromic, Christianson Type | 9 |
| Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type | 9 |
| Mental Retardation, X-Linked, Syndromic, Hedera Type | 6 |
| Mental retardation, X-linked, syndromic, Houge type | 3 |
| Mental Retardation, X-Linked, Syndromic, Nascimento Type | 4 |
| Mental Retardation, X-Linked, Syndromic, Raymond Type | 3 |
| Mental Retardation, X-Linked, Syndromic, Wu Type | 8 |
| Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related | 13 |
| Mental Retardation, X-Linked, With Panhypopituitarism | 7 |
| Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait | 10 |
| Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 | 14 |
| Merosin Deficient Congenital Muscular Dystrophy | 12 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 6 |
| Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | 17 |
| Metabolic Syndrome X | 4 |
| Metacarpal 4-5 fusion | 3 |
| Metachondromatosis | 17 |
| Metachromatic Leukodystrophy | 12 |
| Metaphyseal Anadysplasia 2 | 1 |
| Metaphyseal Chondrodysplasia, Jansen Type | 3 |
| Metaphyseal Chondrodysplasia, Mckusick Type | 7 |
| Metaphyseal Chondrodysplasia, Schmid Type | 4 |
| Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | 2 |
| Metaphyseal Dysplasia Without Hypotrichosis | 7 |
| Metaphyseal Dysplasia, Spahr Type | 1 |
| Metatropic Dwarfism | 6 |
| Methemoglobinemia | 5 |
| Methemoglobinemia and Ambiguous Genitalia | 4 |
| Methemoglobinemia, alpha type | 3 |
| Methemoglobinemia, beta type | 1 |
| Methionine Adenosyltransferase I/III Deficiency | 6 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency | 7 |
| Methylmalonic Aciduria and Homocystinuria, cblC Type | 11 |
| Methylmalonic Aciduria and Homocystinuria, cblD Type | 11 |
| Methylmalonic Aciduria and Homocystinuria, cblF Type | 7 |
| Methylmalonic Aciduria and Homocystinuria, cblJ Type | 5 |
| Methylmalonic Aciduria Cbla Type | 7 |
| Methylmalonic Aciduria Cblb Type | 7 |
| Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency | 9 |
| Methylmalonic Aciduria Due To Transcobalamin Receptor Defect | 6 |
| Methylmalonyl-CoA Epimerase Deficiency | 6 |
| Mevalonic Aciduria | 11 |
| MHC class I deficiency 2 | 1 |
| MHC class I deficiency 3 | 1 |
| MHC class II deficiency 2 | 1 |
| MHC class II deficiency 3 | 1 |
| MHC class II deficiency 4 | 1 |
| MHC class II deficiency 5 | 1 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 14 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type 2 | 10 |
| Microcephaly 10, primary, autosomal recessive | 4 |
| Microcephaly 11, primary, autosomal recessive | 1 |
| Microcephaly 12, primary, autosomal recessive | 1 |
| Microcephaly 13, primary, autosomal recessive | 3 |
| Microcephaly 14, primary, autosomal recessive | 2 |
| Microcephaly 15, primary, autosomal recessive | 5 |
| Microcephaly 16, primary, autosomal recessive | 4 |
| Microcephaly 18, Primary, Autosomal Dominant | 2 |
| Microcephaly 19, primary, autosomal recessive | 1 |
| Microcephaly 20, primary, autosomal recessive | 5 |
| Microcephaly 22, primary, autosomal recessive | 3 |
| Microcephaly 26, primary, autosomal dominant | 1 |
| Microcephaly 27, primary, autosomal dominant | 1 |
| Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 | 7 |
| Microcephaly and Chorioretinopathy, Autosomal Recessive, 2 | 6 |
| Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 | 4 |
| Microcephaly with or without Chorioretinopathy, Lymphedema, or Mental Retardation | 10 |
| Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum | 1 |
| Microcephaly, congenital cataract, and psoriasiform dermatitis | 3 |
| Microcephaly, developmental delay, and brittle hair syndrome | 2 |
| Microcephaly, Epilepsy, And Diabetes Syndrome | 5 |
| Microcephaly, epilepsy, and diabetes syndrome 2 | 1 |
| Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | 5 |
| Microcephaly, growth deficiency, seizures, and brain malformations | 7 |
| Microcephaly, growth restriction, and increased sister chromatid exchange 2 | 2 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy | 5 |
| Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy | 5 |
| Microcephaly, seizures, spasticity, and brain calcification | 2 |
| Microcephaly, short stature, and impaired glucose metabolism 1 | 5 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 6 |
| Microcephaly, short stature, and limb abnormalities | 2 |
| Microcephaly, short stature, and polymicrogyria with seizures | 7 |
| Microcephaly-capillary malformation syndrome | 4 |
| Microcephaly-micromelia syndrome | 2 |
| Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus | 5 |
| Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 | 1 |
| Microcytic Anemia | 2 |
| Microhydranencephaly | 7 |
| Microphthalmia Syndromic 3 | 19 |
| Microphthalmia Syndromic 5 | 13 |
| Microphthalmia Syndromic 6 | 19 |
| Microphthalmia Syndromic 7 | 11 |
| Microphthalmia Syndromic 9 | 5 |
| Microphthalmia With Limb Anomalies | 7 |
| Microphthalmia, Isolated 2 | 5 |
| Microphthalmia, Isolated 3 | 4 |
| Microphthalmia, Isolated 4 | 6 |
| Microphthalmia, Isolated 5 | 9 |
| Microphthalmia, Isolated 6 | 4 |
| Microphthalmia, Isolated 7 | 5 |
| Microphthalmia, Isolated 8 | 6 |
| Microphthalmia, Isolated, with Coloboma 10 | 4 |
| Microphthalmia, Isolated, With Coloboma 3 | 5 |
| Microphthalmia, Isolated, With Coloboma 5 | 8 |
| Microphthalmia, Isolated, With Coloboma 6 | 6 |
| Microphthalmia, isolated, with coloboma 7 | 5 |
| Microphthalmia, Isolated, with Coloboma 9 | 3 |
| Microphthalmia, syndromic 11 | 4 |
| Microphthalmia, syndromic 12 | 5 |
| Microphthalmia, Syndromic 13 | 4 |
| Microphthalmia/coloboma 13 | 1 |
| Microphthalmia/Coloboma and Skeletal Dysplasia Syndrome | 7 |
| Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma | 9 |
| Microtia, Hearing Impairment, And Cleft Palate | 2 |
| Microvascular Complications Of Diabetes 2 | 3 |
| Microvascular Complications Of Diabetes 3 | 4 |
| Microvascular Complications Of Diabetes 4 | 2 |
| Microvascular Complications Of Diabetes 5 | 1 |
| Microvascular Complications Of Diabetes 7 | 1 |
| Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 2 |
| Migraine | 2 |
| Migraine, With Or Without Aura 13 | 1 |
| Miller Syndrome | 9 |
| Miller-Dieker Lissencephaly Syndrome | 1 |
| Minicore Myopathy With External Ophthalmoplegia | 8 |
| MIRAGE syndrome | 8 |
| Mirror movements 2 | 5 |
| Mirror movements 4 | 1 |
| Mirror Movements, Congenital | 3 |
| Mismatch repair cancer syndrome 2 | 10 |
| Mismatch repair cancer syndrome 3 | 11 |
| Mismatch repair cancer syndrome 4 | 13 |
| Mitchell syndrome | 4 |
| Mitchell-Riley syndrome | 6 |
| Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency | 6 |
| Mitochondrial Complex I Deficiency | 24 |
| Mitochondrial Complex I Deficiency due to ACAD9 Deficiency | 10 |
| Mitochondrial complex I deficiency, nuclear type 10 | 5 |
| Mitochondrial complex I deficiency, nuclear type 11 | 3 |
| Mitochondrial complex I deficiency, nuclear type 12 | 7 |
| Mitochondrial complex I deficiency, nuclear type 13 | 5 |
| Mitochondrial complex I deficiency, nuclear type 14 | 4 |
| Mitochondrial complex I deficiency, nuclear type 15 | 5 |
| Mitochondrial complex I deficiency, nuclear type 16 | 8 |
| Mitochondrial complex I deficiency, nuclear type 17 | 5 |
| Mitochondrial complex I deficiency, nuclear type 18 | 6 |
| Mitochondrial complex I deficiency, nuclear type 19 | 5 |
| Mitochondrial complex I deficiency, nuclear type 2 | 5 |
| Mitochondrial complex I deficiency, nuclear type 21 | 4 |
| Mitochondrial complex I deficiency, nuclear type 22 | 5 |
| Mitochondrial complex I deficiency, nuclear type 23 | 6 |
| Mitochondrial complex I deficiency, nuclear type 24 | 3 |
| Mitochondrial complex I deficiency, nuclear type 25 | 4 |
| Mitochondrial complex I deficiency, nuclear type 26 | 4 |
| Mitochondrial complex I deficiency, nuclear type 27 | 5 |
| Mitochondrial complex I deficiency, nuclear type 28 | 3 |
| Mitochondrial complex I deficiency, nuclear type 29 | 3 |
| Mitochondrial complex I deficiency, nuclear type 3 | 6 |
| Mitochondrial complex I deficiency, nuclear type 30 | 5 |
| Mitochondrial complex I deficiency, nuclear type 31 | 3 |
| Mitochondrial complex I deficiency, nuclear type 32 | 5 |
| Mitochondrial complex I deficiency, nuclear type 33 | 2 |
| Mitochondrial complex I deficiency, nuclear type 34 | 4 |
| Mitochondrial complex I deficiency, nuclear type 35 | 2 |
| Mitochondrial complex I deficiency, nuclear type 36 | 1 |
| Mitochondrial complex I deficiency, nuclear type 37 | 1 |
| Mitochondrial complex I deficiency, nuclear type 4 | 6 |
| Mitochondrial complex I deficiency, nuclear type 5 | 5 |
| Mitochondrial complex I deficiency, nuclear type 6 | 6 |
| Mitochondrial complex I deficiency, nuclear type 7 | 4 |
| Mitochondrial complex I deficiency, nuclear type 8 | 5 |
| Mitochondrial complex I deficiency, nuclear type 9 | 4 |
| Mitochondrial Complex II Deficiency | 14 |
| Mitochondrial complex II deficiency, nuclear type 2 | 2 |
| Mitochondrial complex II deficiency, nuclear type 3 | 5 |
| Mitochondrial complex II deficiency, nuclear type 4 | 5 |
| Mitochondrial Complex III Deficiency | 7 |
| Mitochondrial complex III deficiency, nuclear type 10 | 3 |
| Mitochondrial Complex III Deficiency, Nuclear Type 2 | 8 |
| Mitochondrial Complex III Deficiency, Nuclear Type 3 | 6 |
| Mitochondrial Complex III Deficiency, Nuclear Type 4 | 6 |
| Mitochondrial Complex III Deficiency, Nuclear Type 5 | 8 |
| Mitochondrial Complex III Deficiency, Nuclear Type 6 | 5 |
| Mitochondrial Complex III Deficiency, Nuclear Type 7 | 6 |
| Mitochondrial Complex III Deficiency, Nuclear Type 8 | 7 |
| Mitochondrial Complex III Deficiency, Nuclear Type 9 | 6 |
| Mitochondrial Complex IV Deficiency | 19 |
| Mitochondrial complex IV deficiency, nuclear type 10 | 2 |
| Mitochondrial complex IV deficiency, nuclear type 11 | 4 |
| Mitochondrial complex IV deficiency, nuclear type 12 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 14 | 2 |
| Mitochondrial complex IV deficiency, nuclear type 15 | 2 |
| Mitochondrial complex IV deficiency, nuclear type 16 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 17 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 18 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 19 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 20 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 21 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 22 | 1 |
| Mitochondrial complex IV deficiency, nuclear type 3 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 4 | 3 |
| Mitochondrial complex IV deficiency, nuclear type 7 | 4 |
| Mitochondrial complex IV deficiency, nuclear type 8 | 5 |
| Mitochondrial complex V (ATP synthase) deficiency | 5 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 | 6 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 | 12 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 | 6 |
| Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 4 | 5 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | 1 |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 | 2 |
| Mitochondrial DNA depletion syndrome 11 | 11 |
| Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) | 9 |
| Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD | 8 |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 15 |
| Mitochondrial DNA Depletion Syndrome 14 (Encephalocardiomyopathic Type) | 8 |
| Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 3 |
| Mitochondrial DNA depletion syndrome 16 (hepatic type) | 8 |
| Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) | 6 |
| Mitochondrial DNA depletion syndrome 17 | 2 |
| Mitochondrial DNA depletion syndrome 18 | 3 |
| Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) | 17 |
| Mitochondrial DNA depletion syndrome 20 (MNGIE type) | 1 |
| Mitochondrial DNA Depletion Syndrome 4B, Mngie Type | 16 |
| Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) | 16 |
| Mitochondrial DNA Depletion Syndrome 7 | 16 |
| Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic With Methylmalonic Aciduria) | 13 |
| Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy | 13 |
| Mitochondrial DNA-Depletion Syndrome 3, Hepatocerebral | 10 |
| Mitochondrial myopathy with lactic acidosis | 6 |
| Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | 6 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome | 14 |
| Mitochondrial Phosphate Carrier Deficiency | 7 |
| Mitochondrial Pyruvate Carrier Deficiency | 6 |
| Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency | 7 |
| Mitochondrial trifunctional protein deficiency 2 | 3 |
| Mitral valve prolapse 2 | 5 |
| Mitral valve prolapse 3 | 2 |
| Miyoshi Muscular Dystrophy 3 | 7 |
| Miyoshi Myopathy | 6 |
| Mohr-Tranebjaerg Syndrome | 11 |
| Molybdenum Cofactor Deficiency C | 6 |
| Molybdenum Cofactor Deficiency Type A | 18 |
| Molybdenum Cofactor Deficiency Type B | 7 |
| Monoamine Oxidase A Deficiency | 5 |
| Monocarboxylate Transporter 1 Deficiency | 5 |
| Mononeuropathy Of The Median Nerve, Mild | 2 |
| Monosomy 7 myelodysplasia and leukemia syndrome 1 | 4 |
| Monosomy 7 myelodysplasia and leukemia syndrome 2 | 4 |
| Morbid obesity and spermatogenic failure | 1 |
| MORM Syndrome | 13 |
| Morquio Syndrome A | 5 |
| Mosaic Variegated Aneuploidy Syndrome | 7 |
| Mosaic Variegated Aneuploidy Syndrome 2 | 2 |
| Mosaic Variegated Aneuploidy Syndrome 3 | 4 |
| Mowat-Wilson Syndrome | 15 |
| Moyamoya 6 with achalasia | 3 |
| Moyamoya Disease 2 | 1 |
| Moyamoya Disease 5 | 8 |
| Mucocutaneous ulceration, chronic | 3 |
| Mucoepithelial dysplasia, hereditary | 1 |
| Mucolipidosis III Gamma | 9 |
| Mucopolysaccharidosis Type IX | 3 |
| Mucopolysaccharidosis Type VI | 4 |
| Mucopolysaccharidosis Type VII | 7 |
| Mucopolysaccharidosis, MPS-I-H/S | 7 |
| Mucopolysaccharidosis, MPS-I-S | 7 |
| Mucopolysaccharidosis, MPS-II | 7 |
| Mucopolysaccharidosis, MPS-III-A | 8 |
| Mucopolysaccharidosis, MPS-III-B | 8 |
| Mucopolysaccharidosis, MPS-III-C | 8 |
| Mucopolysaccharidosis, MPS-III-D | 8 |
| Mucopolysaccharidosis, MPS-IV-B | 8 |
| Mucopolysaccharidosis-plus syndrome | 4 |
| Muenke Syndrome | 16 |
| Muir-Torre Syndrome | 18 |
| Mulibrey Nanism Syndrome | 5 |
| Mullerian Aplasia And Hyperandrogenism | 8 |
| Multicentric carpotarsal osteolysis syndrome | 6 |
| Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | 4 |
| Multiple Carboxylase Deficiency, Juvenile Onset | 8 |
| Multiple Carboxylase Defiency, Early Onset | 7 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome | 11 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 | 16 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 6 |
| Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | 3 |
| Multiple Cutaneous And Mucosal Venous Malformations | 1 |
| Multiple Endocrine Neoplasia, Type 1 | 6 |
| Multiple Endocrine Neoplasia, Type 2A | 10 |
| Multiple Endocrine Neoplasia, Type 2B | 10 |
| Multiple Endocrine Neoplasia, Type IV | 5 |
| Multiple Epiphyseal Dysplasia 1 | 6 |
| Multiple Epiphyseal Dysplasia 2 | 9 |
| Multiple Epiphyseal Dysplasia 3 | 7 |
| Multiple Epiphyseal Dysplasia 4 | 9 |
| Multiple Epiphyseal Dysplasia 5 | 5 |
| Multiple Epiphyseal Dysplasia 6 | 10 |
| Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects | 7 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 | 6 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 | 8 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 | 6 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 | 7 |
| Multiple mitochondrial dysfunctions syndrome 5 | 2 |
| Multiple mitochondrial dysfunctions syndrome 6 | 4 |
| Multiple mitochondrial dysfunctions syndrome 7 | 1 |
| Multiple mitochondrial dysfunctions syndrome 9B | 1 |
| Multiple Myeloma | 7 |
| Multiple Sclerosis Susceptibility | 3 |
| Multiple sclerosis, susceptibility to, 5 | 5 |
| Multiple Self Healing Squamous Epithelioma | 8 |
| Multiple Sulfatase Deficiency | 9 |
| Multiple Synostoses Syndrome 1 | 6 |
| Multiple Synostoses Syndrome 2 | 7 |
| Multiple Synostoses Syndrome 3 | 1 |
| Multiple synostoses syndrome 4 | 4 |
| Multiple system atrophy, susceptibility to | 8 |
| Multisystemic Smooth Muscle Dysfunction Syndrome | 8 |
| Mungan syndrome | 9 |
| Muscle Eye Brain Disease | 15 |
| Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome | 2 |
| Muscular dystrophy, congenital, Davignon-Chauveau type | 4 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency | 5 |
| Muscular Dystrophy, Congenital, LMNA-Related | 12 |
| Muscular Dystrophy, Congenital, Megaconial Type | 8 |
| Muscular dystrophy, congenital, with cataracts and intellectual disability | 4 |
| Muscular dystrophy, congenital, with or without seizures | 2 |
| Muscular Dystrophy, Limb Girdle, Type 2C | 8 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 1 |
| Muscular dystrophy, limb-girdle, autosomal recessive 21 | 2 |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | 5 |
| Muscular dystrophy, limb-girdle, autosomal recessive 26 | 1 |
| Muscular dystrophy, limb-girdle, autosomal recessive 27 | 1 |
| Muscular dystrophy, limb-girdle, autosomal recessive 28 | 1 |
| Muscular Dystrophy, Limb-Girdle, Type 1C | 5 |
| Muscular Dystrophy, Limb-Girdle, Type 1G | 3 |
| Muscular Dystrophy, Limb-Girdle, Type 2J | 6 |
| Muscular Dystrophy, Limb-Girdle, Type 2L | 8 |
| Muscular Dystrophy, Limb-Girdle, Type 2Q | 8 |
| Muscular dystrophy, limb-girdle, type 2R | 2 |
| Muscular dystrophy, limb-girdle, type 2S | 8 |
| Muscular Dystrophy, Limb-Girdle, Type 2W | 4 |
| Muscular dystrophy, limb-girdle, type 2X | 2 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 10; MDDGA10 | 9 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 13 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | 11 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | 13 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 | 15 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 15 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 | 5 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | 10 |
| Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | 2 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1 | 12 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 | 10 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2 | 10 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 | 13 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 | 14 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 | 5 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 | 7 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | 11 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 | 10 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 | 12 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 | 12 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 | 12 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 | 7 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 | 8 |
| Myasthenia, Limb-Girdle, Familial | 5 |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 3 |
| Myasthenic syndrome, congenital, 14, with tubular aggregates | 7 |
| Myasthenic Syndrome, Congenital, 15, without Tubular Aggregates | 5 |
| Myasthenic Syndrome, Congenital, 17 | 5 |
| Myasthenic Syndrome, Congenital, 18 | 5 |
| Myasthenic Syndrome, Congenital, 19 | 4 |
| Myasthenic syndrome, congenital, 20, presynaptic | 6 |
| Myasthenic syndrome, congenital, 21, presynaptic | 4 |
| Myasthenic syndrome, congenital, 22 | 3 |
| Myasthenic syndrome, congenital, 23, presynaptic | 6 |
| Myasthenic syndrome, congenital, 24, presynaptic | 3 |
| Myasthenic syndrome, congenital, 25 | 4 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel | 4 |
| Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | 3 |
| Myasthenic syndrome, congenital, 3A, slow-channel | 3 |
| Myasthenic syndrome, congenital, 3B, fast-channel | 4 |
| Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | 3 |
| Myasthenic syndrome, congenital, 4A, slow-channel | 4 |
| Myasthenic syndrome, congenital, 4B, fast-channel | 4 |
| Myasthenic Syndrome, Congenital, 7, Presynaptic | 6 |
| Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | 1 |
| Myasthenic Syndrome, Congenital, 8, with Pre- and Postsynaptic Defects | 3 |
| Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency | 3 |
| Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency | 7 |
| Myasthenic Syndrome, Congenital, Fast-Channel | 7 |
| Myasthenic Syndrome, Congenital, Slow-Channel | 8 |
| Myasthenic syndrome, congenital, with tubular aggregates 2 | 7 |
| Mycobacterial And Viral Infections, Susceptibility To, Autosomal Recessive | 6 |
| Mycobacterium Tuberculosis, Susceptibility To | 5 |
| Myd88 Deficiency | 3 |
| Myelodysplastic Syndrome | 15 |
| Myelofibrosis | 5 |
| Myeloperoxidase Deficiency | 2 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia | 5 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to | 6 |
| Myh-Associated Polyposis | 9 |
| Myhre Syndrome | 12 |
| Myocardial Infarction 1 | 9 |
| Myoclonic Dystonia | 6 |
| Myoclonic epilepsy of Lafora 2 | 3 |
| Myoclonic Epilepsy, Familial Infantile | 10 |
| Myoclonic-Atonic Epilepsy | 8 |
| Myoclonus, familial, 1 | 1 |
| Myoclonus, familial, 2 | 6 |
| Myoclonus, Intractable, Neonatal | 5 |
| Myofibrillar myopathy 11 | 1 |
| Myofibrillar Myopathy, BAG3-Related | 10 |
| Myofibrillar Myopathy, Desmin-Related | 6 |
| Myofibrillar Myopathy, Filamin C-Related | 6 |
| Myofibrillar Myopathy, ZASP-Related | 9 |
| Myofibromatosis, Infantile, 1 | 7 |
| Myofibromatosis, Infantile, 2 | 5 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive | 8 |
| Myopathy due to Myoadenylate Deaminase Deficiency | 3 |
| Myopathy with Extrapyramidal Signs | 6 |
| Myopathy With Lactic Acidosis, Hereditary | 5 |
| Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | 2 |
| Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | 1 |
| Myopathy, Centronuclear | 4 |
| Myopathy, Centronuclear, 1 | 6 |
| Myopathy, Centronuclear, 3 | 1 |
| Myopathy, congenital proximal, with minicore lesions | 1 |
| Myopathy, congenital with structured cores and Z-line abnormalities | 2 |
| Myopathy, Congenital, Compton-North | 5 |
| Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | 3 |
| Myopathy, congenital, with respiratory insufficiency and bone fractures | 1 |
| Myopathy, congenital, with tremor | 2 |
| Myopathy, Distal, 1 | 6 |
| Myopathy, Distal, 2 | 7 |
| Myopathy, Distal, 4 | 6 |
| Myopathy, distal, 5 | 3 |
| Myopathy, distal, 6, adult onset | 2 |
| Myopathy, distal, 7, adult-onset, X-linked | 2 |
| Myopathy, Distal, Tateyama Type | 4 |
| Myopathy, Distal, With Anterior Tibial Onset | 5 |
| Myopathy, distal, with rimmed vacuoles | 5 |
| Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia | 5 |
| Myopathy, Early-Onset, With Fatal Cardiomyopathy | 4 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 3 |
| Myopathy, isolated mitochondrial, autosomal dominant | 4 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 | 4 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay | 5 |
| Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | 1 |
| Myopathy, myofibrillar, 7 | 3 |
| Myopathy, myofibrillar, 8 | 3 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related | 6 |
| Myopathy, Myosin Storage | 5 |
| Myopathy, Myosin Storage, Autosomal Recessive | 4 |
| Myopathy, Reducing Body, X-Linked, Childhood-Onset | 4 |
| Myopathy, Reducing Body, X-Linked, Early-Onset, Severe | 4 |
| Myopathy, sarcoplasmic body | 1 |
| Myopathy, scapulohumeroperoneal | 1 |
| Myopathy, tubular aggregate | 9 |
| Myopathy, tubular aggregate, 2 | 3 |
| Myopathy, vacuolar, with CASQ1 aggregates | 2 |
| Myopathy, X-linked, with excessive autophagy | 4 |
| Myopathy, X-Linked, With Postural Muscle Atrophy | 5 |
| Myopia 21, Autosomal Dominant | 1 |
| Myopia 22, autosomal dominant | 1 |
| Myopia 23, autosomal recessive | 1 |
| Myopia 24, autosomal dominant | 1 |
| Myopia 25, autosomal dominant | 1 |
| Myopia 26, X-linked, female-limited | 1 |
| Myopia 27 | 1 |
| Myopia 6 | 9 |
| Myopia, High, with Cataract And Vitreoretinal Degeneration | 6 |
| Myosclerosis, Autosomal Recessive | 3 |
| Myotilinopathy | 5 |
| Myotonia Congenita Autosomal Recessive | 3 |
| N-Acetylaspartate Deficiency | 3 |
| Nabais Sa-de Vries syndrome, type 1 | 1 |
| Nabais Sa-de Vries syndrome, type 2 | 1 |
| Naegeli-Franceschetti-Jadassohn Syndrome | 2 |
| Nail Disorder, Nonsyndromic Congenital, 8 | 5 |
| Nail-Patella Syndrome | 8 |
| Nance-Horan Syndrome | 10 |
| Nanophthalmos 2 | 5 |
| Nanophthalmos 4 | 2 |
| Nasopharyngeal Carcinoma | 10 |
| Native American myopathy | 6 |
| Navajo Neurohepatopathy | 10 |
| Naxos Disease | 6 |
| Nemaline Myopathy 1 | 5 |
| Nemaline Myopathy 10 | 4 |
| Nemaline myopathy 11, autosomal recessive | 5 |
| Nemaline Myopathy 2 | 9 |
| Nemaline Myopathy 3 | 6 |
| Nemaline Myopathy 4 | 6 |
| Nemaline Myopathy 5 | 5 |
| Nemaline Myopathy 6 | 5 |
| Nemaline Myopathy 7 | 5 |
| Nemaline Myopathy 8 | 7 |
| Nemaline Myopathy 9 | 5 |
| Neoplasm Of Ovary | 18 |
| Neoplasm Of Stomach | 25 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis | 5 |
| Nephrolithiasis, Calcium Oxalate | 3 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 | 7 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 | 5 |
| Nephronophthisis | 13 |
| Nephronophthisis 11 | 11 |
| Nephronophthisis 12 | 12 |
| Nephronophthisis 13 | 9 |
| Nephronophthisis 14 | 11 |
| Nephronophthisis 15 | 14 |
| Nephronophthisis 16 | 8 |
| Nephronophthisis 18 | 6 |
| Nephronophthisis 19 | 7 |
| Nephronophthisis 20 | 2 |
| Nephronophthisis 4 | 9 |
| Nephronophthisis 7 | 7 |
| Nephronophthisis 9 | 10 |
| Nephronophthisis-Like Nephropathy 1 | 7 |
| Nephronophthisis-like nephropathy 2 | 1 |
| Nephropathy With Pretibial Epidermolysis Bullosa And Deafness | 1 |
| Nephrotic Syndrome, Idiopathic, Steroid-Resistant | 3 |
| Nephrotic Syndrome, Type 10 | 3 |
| Nephrotic Syndrome, Type 11 | 6 |
| Nephrotic Syndrome, Type 12 | 3 |
| Nephrotic Syndrome, Type 13 | 3 |
| Nephrotic Syndrome, Type 14 | 6 |
| Nephrotic Syndrome, Type 15 | 4 |
| Nephrotic syndrome, type 16 | 1 |
| Nephrotic syndrome, type 17 | 1 |
| Nephrotic syndrome, type 18 | 3 |
| Nephrotic syndrome, type 19 | 2 |
| Nephrotic syndrome, type 20 | 2 |
| Nephrotic syndrome, type 21 | 3 |
| Nephrotic syndrome, type 22 | 1 |
| Nephrotic syndrome, type 23 | 1 |
| Nephrotic syndrome, type 24 | 1 |
| Nephrotic syndrome, type 26 | 1 |
| Nephrotic Syndrome, Type 3 | 5 |
| Nephrotic syndrome, type 4 | 12 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities | 8 |
| Nephrotic Syndrome, Type 6 | 2 |
| Nephrotic Syndrome, Type 7 | 8 |
| Nephrotic Syndrome, Type 8 | 2 |
| Nephrotic syndrome, type 9 | 6 |
| Nestor-Guillermo Progeria Syndrome | 1 |
| Netherton Syndrome | 8 |
| Neu-Laxova syndrome 1 | 12 |
| Neu-Laxova syndrome 2 | 8 |
| Neural Tube Defects | 4 |
| Neural Tube Defects, Folate-Sensitive | 10 |
| Neuroblastoma 1 | 7 |
| Neuroblastoma 2 | 6 |
| Neuroblastoma 3 | 6 |
| Neurocutaneous melanosis, somatic | 11 |
| Neurodegeneration and seizures due to copper transport defect | 1 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 8 |
| Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 4 |
| Neurodegeneration With Brain Iron Accumulation 1 | 6 |
| Neurodegeneration With Brain Iron Accumulation 2B | 6 |
| Neurodegeneration With Brain Iron Accumulation 4 | 7 |
| Neurodegeneration With Brain Iron Accumulation 5 | 12 |
| Neurodegeneration With Brain Iron Accumulation 6 | 5 |
| Neurodegeneration with brain iron accumulation 7 | 1 |
| Neurodegeneration with brain iron accumulation 8 | 2 |
| Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities | 1 |
| Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities | 1 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 4 |
| Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | 3 |
| Neurodegeneration, childhood-onset, with brain atrophy | 4 |
| Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline | 1 |
| Neurodegeneration, childhood-onset, with cerebellar atrophy | 3 |
| Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction | 3 |
| Neurodegeneration, childhood-onset, with progressive microcephaly | 1 |
| Neurodegeneration, infantile-onset, biotin-responsive | 3 |
| Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 3 |
| Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 3 |
| Neurodevelopmental disorder plus optic atrophy | 2 |
| Neurodevelopmental disorder with absent language and variable seizures | 2 |
| Neurodevelopmental disorder with alopecia and brain abnormalities | 3 |
| Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | 1 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 |
| Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 1 |
| Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | 2 |
| Neurodevelopmental disorder with central and peripheral motor dysfunction | 2 |
| Neurodevelopmental disorder with central hypotonia and dysmorphic facies | 1 |
| Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 5 |
| Neurodevelopmental disorder with cerebellar hypoplasia and spasticity | 1 |
| Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism | 2 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 5 |
| Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects | 1 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 3 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 2 |
| Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities | 1 |
| Neurodevelopmental disorder with dysmorphic facies and variable seizures | 1 |
| Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia | 1 |
| Neurodevelopmental disorder with dystonia and seizures | 1 |
| Neurodevelopmental disorder with epilepsy and brain atrophy | 1 |
| Neurodevelopmental disorder with epilepsy and hemochromatosis | 4 |
| Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 2 |
| Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination | 3 |
| Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | 4 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 2 |
| Neurodevelopmental disorder with hearing loss and spasticity | 2 |
| Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | 2 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 2 |
| Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | 3 |
| Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia and gross motor and speech delay | 1 |
| Neurodevelopmental disorder with hypotonia and seizures | 1 |
| Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures | 1 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 3 |
| Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | 3 |
| Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | 4 |
| Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | 5 |
| Neurodevelopmental Disorder with Hypotonia, Seizures, and Absent Language | 3 |
| Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 2 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 1 |
| Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies | 1 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 3 |
| Neurodevelopmental disorder with infantile epileptic spasms | 2 |
| Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies | 2 |
| Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity | 1 |
| Neurodevelopmental Disorder with Involuntary Movements | 7 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 |
| Neurodevelopmental disorder with language delay and seizures | 2 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 3 |
| Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder | 1 |
| Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | 1 |
| Neurodevelopmental disorder with microcephaly, ataxia, and seizures | 2 |
| Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 1 |
| Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | 4 |
| Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy | 3 |
| Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | 4 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 |
| Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures | 1 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive | 3 |
| Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant | 3 |
| Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures | 1 |
| Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | 1 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 |
| Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | 1 |
| Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism | 1 |
| Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities | 1 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 2 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 3 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 5 |
| Neurodevelopmental disorder with or without autism or seizures | 2 |
| Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 2 |
| Neurodevelopmental disorder with or without early-onset generalized epilepsy | 2 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | 6 |
| Neurodevelopmental disorder with or without seizures and gait abnormalities | 3 |
| Neurodevelopmental disorder with or without variable brain abnormalities | 3 |
| Neurodevelopmental disorder with poor growth and skeletal anomalies | 2 |
| Neurodevelopmental disorder with poor language and loss of hand skills | 4 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 5 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 2 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 6 |
| Neurodevelopmental disorder with seizures and brain abnormalities | 2 |
| Neurodevelopmental disorder with seizures and brain atrophy | 1 |
| Neurodevelopmental disorder with seizures and gingival overgrowth | 1 |
| Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 3 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 3 |
| Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities | 1 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 1 |
| Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | 1 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 2 |
| Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy | 1 |
| Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties | 1 |
| Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | 1 |
| Neurodevelopmental disorder with spasticity and poor growth | 2 |
| Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | 1 |
| Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities | 1 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 |
| Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 4 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 7 |
| Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities | 3 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 5 |
| Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | 8 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 2 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities | 3 |
| Neuroferritinopathy | 6 |
| Neurofibromatosis, Familial Spinal | 24 |
| Neurofibromatosis, Type 1 | 31 |
| Neurofibromatosis, Type 2 | 6 |
| Neurofibromatosis-Noonan Syndrome | 26 |
| Neuromuscular disease and ocular or auditory anomalies with or without seizures | 1 |
| Neuromyotonia and axonal neuropathy, autosomal recessive | 4 |
| Neuronopathy, Distal Hereditary Motor, Type VIIB | 9 |
| Neuronopathy, distal hereditary motor, autosomal dominant 10 | 1 |
| Neuronopathy, distal hereditary motor, autosomal dominant 11 | 2 |
| Neuronopathy, distal hereditary motor, autosomal recessive 10 | 3 |
| Neuronopathy, distal hereditary motor, autosomal recessive 6 | 1 |
| Neuronopathy, distal hereditary motor, autosomal recessive 7 | 2 |
| Neuronopathy, distal hereditary motor, autosomal recessive 9 | 1 |
| Neuronopathy, Distal Hereditary Motor, Type IIC | 2 |
| Neuronopathy, Distal Hereditary Motor, Type IID | 4 |
| Neuronopathy, distal hereditary motor, type IX | 2 |
| Neuronopathy, Distal Hereditary Motor, Type VB | 6 |
| Neuronopathy, Distal Hereditary Motor, Type VIIA | 9 |
| Neurooculocardiogenitourinary syndrome | 8 |
| Neurooculorenal syndrome | 2 |
| Neuropathy, distal hereditary motor, type VC | 5 |
| Neuropathy, Hereditary Motor and Sensory, Okinawa Type | 7 |
| Neuropathy, Hereditary Motor and Sensory, Russe Type | 6 |
| Neuropathy, Hereditary Motor and Sensory, Type VIA | 13 |
| Neuropathy, Hereditary Motor and Sensory, Type VIB | 9 |
| Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | 3 |
| Neuropathy, Hereditary Sensory And Autonomic, Type 1A | 7 |
| Neuropathy, Hereditary Sensory And Autonomic, Type IC | 7 |
| Neuropathy, Hereditary Sensory And Autonomic, Type IIA | 7 |
| Neuropathy, Hereditary Sensory And Autonomic, Type IIB | 3 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V | 4 |
| Neuropathy, Hereditary Sensory and Autonomic, Type VI | 5 |
| Neuropathy, Hereditary Sensory and Autonomic, Type VII | 4 |
| Neuropathy, Hereditary Sensory and Autonomic, Type VIII | 4 |
| Neuropathy, Hereditary Sensory, Type ID | 5 |
| Neuropathy, Hereditary Sensory, Type IE | 8 |
| Neuropathy, Hereditary Sensory, Type IF | 4 |
| Neuropathy, Hereditary Sensory, Type IIC | 10 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia | 6 |
| Neuropathy, Hereditary, with or without Age-Related Macular Degeneration | 9 |
| Neuropathy, inflammatory demyelinating | 2 |
| Neutral Lipid Storage Disease With Myopathy | 7 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults | 7 |
| Neutropenia, severe congenital, 11, autosomal dominant | 3 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant | 7 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive | 8 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive | 7 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive | 6 |
| Neutropenia, severe congenital, 7, autosomal recessive | 5 |
| Neutropenia, severe congenital, 8, autosomal dominant | 6 |
| Neutropenia, severe congenital, 9, autosomal dominant | 4 |
| Neutrophil Immunodeficiency Syndrome | 7 |
| Neutrophilic dermatosis, acute febrile | 2 |
| Nevus comedonicus, somatic | 3 |
| Newfoundland Rod-Cone Dystrophy | 5 |
| Nicolaides-Baraitser Syndrome | 7 |
| Niemann-Pick Disease Type C1 | 9 |
| Niemann-Pick Disease Type C2 | 9 |
| Niemann-Pick Disease, Type A | 13 |
| Niemann-Pick Disease, Type B | 14 |
| Night Blindness, Congenital Stationary, Nougaret Type | 4 |
| Night Blindness, Congenital Stationary, Rambusch Type | 8 |
| Night Blindness, Congenital Stationary, Rhodopsin-Related | 6 |
| Night Blindness, Congenital Stationary, Type 1A | 5 |
| Night Blindness, Congenital Stationary, Type 1B | 5 |
| Night Blindness, Congenital Stationary, Type 1C | 4 |
| Night Blindness, Congenital Stationary, Type 1D | 6 |
| Night Blindness, Congenital Stationary, Type 1E | 4 |
| Night Blindness, Congenital Stationary, Type 1F | 5 |
| Night Blindness, Congenital Stationary, Type 1G | 4 |
| Night blindness, congenital stationary, type 1H | 3 |
| Night blindness, congenital stationary, type 1I | 2 |
| Night Blindness, Congenital Stationary, Type 2A | 7 |
| Night Blindness, Congenital Stationary, Type 2B | 7 |
| Nijmegen Breakage Syndrome | 14 |
| Nijmegen Breakage Syndrome-Like Disorder | 8 |
| Nizon-Isidor syndrome | 2 |
| Non-Herlitz Junctional Epidermolysis Bullosa | 11 |
| Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To | 4 |
| Noonan Syndrome 1 | 22 |
| Noonan Syndrome 10 | 10 |
| Noonan syndrome 11 | 6 |
| Noonan syndrome 12 | 6 |
| Noonan syndrome 13 | 6 |
| Noonan syndrome 2 | 9 |
| Noonan Syndrome 3 | 16 |
| Noonan Syndrome 4 | 15 |
| Noonan Syndrome 5 | 12 |
| Noonan Syndrome 6 | 16 |
| Noonan Syndrome 7 | 12 |
| Noonan Syndrome 8 | 10 |
| Noonan Syndrome 9 | 8 |
| Noonan syndrome-like disorder with loose anagen hair 2 | 10 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia | 13 |
| Noonan-Like Syndrome With Loose Anagen Hair | 10 |
| Norrie Disease | 11 |
| Norum Disease | 5 |
| Nystagmus 6, Congenital, X-Linked | 5 |
| Nystagmus 8, congenital, autosomal recessive | 2 |
| O'Donnell-Luria-Rodan syndrome | 4 |
| Obesity | 16 |
| Obesity | 1 |
| Obesity, Hyperphagia, And Developmental Delay | 5 |
| Obesity, Morbid, Due to Leptin Deficiency | 9 |
| Obesity, Morbid, Due to Leptin Receptor Deficiency | 9 |
| Obesity, susceptibility to, BMIQ14 | 2 |
| Obesity, susceptibility to, BMIQ18 | 1 |
| Obesity, susceptibility to, BMIQ19 | 1 |
| Occipital Horn Syndrome | 19 |
| Occult Macular Dystrophy | 4 |
| Ocular Albinism, Type I | 5 |
| Oculoauricular Syndrome | 4 |
| Oculocutaneous Albinism Type 1A | 6 |
| Oculocutaneous Albinism Type 1B | 6 |
| Oculocutaneous Albinism Type 3 | 4 |
| Oculocutaneous Albinism Type IV | 4 |
| Oculocutaneous albinism, type VIII | 1 |
| Oculodentodigital Dysplasia | 17 |
| Oculodentodigital Dysplasia, Autosomal Recessive | 15 |
| Oculoectodermal syndrome, somatic | 13 |
| Oculofaciocardiodental Syndrome | 18 |
| Oculomaxillofacial Dysostosis | 5 |
| Oculopharyngeal Muscular Dystrophy | 2 |
| Oculoskeletodental syndrome | 1 |
| Odontoonychodermal Dysplasia | 2 |
| Ogden Syndrome | 10 |
| Oguchi Disease 2 | 4 |
| Oguchi's Disease | 4 |
| OHDO Syndrome, X-linked; OHDOX | 14 |
| Okur-Chung neurodevelopmental syndrome | 2 |
| Oligodontia-Colorectal Cancer Syndrome | 6 |
| Oliver-McFarlane syndrome | 4 |
| Olmsted syndrome, X-linked | 8 |
| Omenn Syndrome | 10 |
| Omodysplasia 1 | 3 |
| Omodysplasia 2 | 2 |
| Ondontochondrodysplasia 2 with hearing loss and diabetes | 1 |
| Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome | 2 |
| Oocyte Maturation Defect | 3 |
| Oocyte/zygote/embryo maturation arrest 17 | 1 |
| Oocyte/zygote/embryo maturation arrest 9 | 2 |
| Ophthalmoplegia, external, with rib and vertebral anomalies | 1 |
| Opitz G/BBB Syndrome, Type I | 13 |
| Opitz GBBB syndrome, type II | 9 |
| Opsismodysplasia | 5 |
| Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures | 7 |
| Optic atrophy 11 | 4 |
| Optic atrophy 12 | 5 |
| Optic atrophy 13 with retinal and foveal abnormalities | 3 |
| Optic atrophy 14 | 2 |
| Optic atrophy 15 | 2 |
| Optic atrophy 16 | 1 |
| Optic atrophy 5 | 9 |
| Optic Atrophy 7 | 6 |
| Optic atrophy 9 | 8 |
| Optic Atrophy And Cataract, Autosomal Dominant | 11 |
| Optic Atrophy Type 1 | 13 |
| Optic Disc Anomalies with Retinal and/or Macular Dystrophy | 6 |
| Optic Nerve Hypoplasia, Bilateral | 11 |
| Oral-Facial-Digital Syndrome | 19 |
| Ornithine Carbamoyltransferase Deficiency | 10 |
| Orofacial Cleft 10 | 1 |
| Orofacial Cleft 11 | 13 |
| Orofacial cleft 15 | 1 |
| Orofacial Cleft 5 | 4 |
| Orofacial Cleft 6, Susceptibility To | 6 |
| Orofacial cleft 8 | 8 |
| Orofaciodigital syndrome II | 3 |
| Orofaciodigital Syndrome IV | 11 |
| Orofaciodigital Syndrome V | 3 |
| Orofaciodigital syndrome VI | 10 |
| Orofaciodigital Syndrome XIV | 6 |
| Orofaciodigital syndrome XV | 2 |
| Orofaciodigital Syndrome XVI | 8 |
| Orofaciodigital syndrome XVII | 6 |
| Orofaciodigital syndrome XVIII | 1 |
| Orotic Aciduria | 3 |
| Orthostatic hypotension 2 | 2 |
| Orthostatic Intolerance | 1 |
| Osler Hemorrhagic Telangiectasia Syndrome | 8 |
| Osteitis Deformans | 10 |
| Osteoarthritis Of Distal Interphalangeal Joint | 3 |
| Osteoarthritis Of Hip | 5 |
| Osteoarthritis With Mild Chondrodysplasia | 15 |
| Osteochondritis Dissecans | 2 |
| Osteochondrodysplasia | 4 |
| Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | 5 |
| Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | 8 |
| Osteodysplastic Primordial Dwarfism, Type 1 | 5 |
| Osteofibrous dysplasia, susceptibility to | 2 |
| Osteogenesis imperfecta 21 | 3 |
| Osteogenesis Imperfecta Type III | 12 |
| Osteogenesis Imperfecta, Type I | 12 |
| Osteogenesis Imperfecta, Type II | 12 |
| Osteogenesis Imperfecta, Type IV | 12 |
| Osteogenesis Imperfecta, Type IX | 6 |
| Osteogenesis imperfecta, type V | 8 |
| Osteogenesis Imperfecta, Type VI | 9 |
| Osteogenesis Imperfecta, Type VII | 9 |
| Osteogenesis Imperfecta, Type VIII | 9 |
| Osteogenesis Imperfecta, Type X | 8 |
| Osteogenesis Imperfecta, Type XI | 8 |
| Osteogenesis Imperfecta, Type XII | 7 |
| Osteogenesis Imperfecta, Type XIII | 8 |
| Osteogenesis Imperfecta, Type XIV | 7 |
| Osteogenesis imperfecta, type XIX | 7 |
| Osteogenesis Imperfecta, Type XV | 8 |
| Osteogenesis imperfecta, type XVI | 4 |
| Osteogenesis Imperfecta, Type XVII | 9 |
| Osteogenesis imperfecta, type XVIII | 7 |
| Osteogenesis imperfecta, type XX | 3 |
| Osteogenesis imperfecta, type XXII | 1 |
| Osteoglophonic Dysplasia | 17 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis | 3 |
| Osteootohepatoenteric syndrome | 1 |
| Osteopathia Striata With Cranial Sclerosis | 8 |
| Osteopetrosis Autosomal Dominant Type 1 | 10 |
| Osteopetrosis Autosomal Dominant Type 2 | 7 |
| Osteopetrosis Autosomal Recessive 1 | 8 |
| Osteopetrosis Autosomal Recessive 2 | 6 |
| Osteopetrosis Autosomal Recessive 4 | 7 |
| Osteopetrosis Autosomal Recessive 5 | 6 |
| Osteopetrosis Autosomal Recessive 7 | 10 |
| Osteopetrosis With Renal Tubular Acidosis | 8 |
| Osteopetrosis, Autosomal Recessive 8 | 6 |
| Osteoporosis | 16 |
| Osteoporosis With Pseudoglioma | 8 |
| Osteoporosis, early-onset, susceptibility to, autosomal dominant | 5 |
| Osteosarcoma | 12 |
| Otitis media, susceptibility to | 3 |
| Oto-Palato-Digital Syndrome Type 1 | 20 |
| Oto-Palato-Digital Syndrome, Type II | 21 |
| Otofaciocervical Syndrome | 8 |
| Otofaciocervical syndrome 2 | 4 |
| Otosclerosis 12 | 7 |
| Otospondylomegaepiphyseal Dysplasia | 13 |
| Ovalocytosis | 1 |
| Ovalocytosis, SA type | 3 |
| Ovarian Dysgenesis 1 | 6 |
| Ovarian Dysgenesis 2 | 6 |
| Ovarian Dysgenesis 3 | 5 |
| Ovarian Dysgenesis 4 | 5 |
| Ovarian Dysgenesis 5 | 3 |
| Ovarian dysgenesis 6 | 1 |
| Ovarian dysgenesis 7 | 4 |
| Ovarian dysgenesis 8 | 1 |
| Ovarian Hyperstimulation Syndrome | 4 |
| P Phenotype | 1 |
| Pachydermoperiostosis | 4 |
| Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | 3 |
| Paganini-Miozzo syndrome | 2 |
| Paget Disease of Bone 3 | 7 |
| Pallister-Hall Syndrome | 18 |
| Palmoplantar carcinoma, multiple self-healing | 3 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,XX Sex Reversal | 5 |
| Palmoplantar Keratoderma and Woolly Hair | 3 |
| Palmoplantar keratoderma with congenital alopecia | 10 |
| Palmoplantar Keratoderma, Epidermolytic | 5 |
| Palmoplantar keratoderma, epidermolytic, 2 | 1 |
| Palmoplantar Keratoderma, Nonepidermolytic | 4 |
| Pancreatic agenesis 2 | 6 |
| Pancreatic agenesis and congenital heart defects | 7 |
| Pancreatic Agenesis, Congenital | 6 |
| Pancreatic Cancer | 24 |
| Pancreatic Cancer 1 | 2 |
| Pancreatic Cancer 2 | 20 |
| Pancreatic Cancer 3 | 19 |
| Pancreatic Cancer 4 | 16 |
| Pancreatic Lipase Deficiency | 1 |
| Pancreatitis, Chronic | 13 |
| Panhypopituitarism X-Linked | 11 |
| Papillon-Lefevre Syndrome | 9 |
| Papillorenal Syndrome | 10 |
| Paraganglioma And Gastric Stromal Sarcoma | 14 |
| Paragangliomas 1 | 11 |
| Paragangliomas 2 | 6 |
| Paragangliomas 3 | 10 |
| Paragangliomas 4 | 13 |
| Paragangliomas 5 | 16 |
| Paragangliomas 6 | 1 |
| Paragangliomas 7 | 3 |
| Paramyotonia Congenita Of Von Eulenburg | 4 |
| Parastremmatic Dwarfism | 6 |
| Parathyroid Carcinoma | 7 |
| Parenti-Mignot neurodevelopmental syndrome | 2 |
| Parietal Foramina | 5 |
| Parietal Foramina 2 | 4 |
| Parietal Foramina With Cleidocranial Dysplasia | 5 |
| Parkinson Disease 1 | 6 |
| Parkinson Disease 11 | 3 |
| Parkinson Disease 13 | 10 |
| Parkinson Disease 14 | 6 |
| Parkinson Disease 15 | 4 |
| Parkinson Disease 17 | 3 |
| Parkinson Disease 18 | 3 |
| Parkinson Disease 19 | 6 |
| Parkinson Disease 2 | 6 |
| Parkinson Disease 20 | 8 |
| Parkinson disease 22, autosomal dominant | 3 |
| Parkinson disease 23, autosomal recessive, early onset | 4 |
| Parkinson Disease 4 | 6 |
| Parkinson Disease 5 | 5 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset | 6 |
| Parkinson Disease 7 | 4 |
| Parkinson Disease 8 | 6 |
| Parkinson's Disease | 10 |
| Parkinson-Dementia Syndrome | 4 |
| Parkinsonism with Spasticity, X-Linked | 7 |
| Parkinsonism-dystonia 3, childhood-onset | 1 |
| Parkinsonism-dystonia, infantile, 2 | 4 |
| Paroxysmal Choreoathetosis | 6 |
| Paroxysmal Extreme Pain Disorder | 5 |
| Paroxysmal Familial Ventricular Fibrillation | 2 |
| Paroxysmal Nocturnal Hemoglobinuria | 14 |
| Paroxysmal nocturnal hemoglobinuria 2 | 5 |
| Partial Albinism | 11 |
| Partial Lipodystrophy, Congenital Cataracts, and Neurodegeneration Syndrome | 8 |
| Partington X-Linked Mental Retardation Syndrome | 13 |
| Patent ductus arteriosus 2 | 5 |
| Patent ductus arteriosus 3 | 2 |
| Patterned Dystrophy Of Retinal Pigment Epithelium | 7 |
| Peeling Skin Syndrome | 1 |
| Peeling skin syndrome 5 | 1 |
| Peeling skin syndrome 6 | 1 |
| Peeling Skin Syndrome, Acral Type | 4 |
| PEHO syndrome | 4 |
| PEHO syndrome-like | 1 |
| Pelger-Huet Anomaly | 9 |
| Pelger-Huet anomaly with mild skeletal anomalies | 8 |
| Pelizaeus-Merzbacher Disease | 9 |
| Pendred Syndrome | 4 |
| Periodic fever, immunodeficiency, and thrombocytopenia syndrome | 4 |
| Periodic fever, menstrual cycle dependent | 4 |
| Periodontitis, Aggressive, 1 | 7 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | 14 |
| Peripheral motor neuropathy, childhood-onset, biotin-responsive | 2 |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 3 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss | 4 |
| Periventricular nodular heterotopia 6 | 2 |
| Periventricular Nodular Heterotopia 7 | 10 |
| Periventricular nodular heterotopia 8 | 3 |
| Periventricular nodular heterotopia 9 | 5 |
| Perlman Syndrome | 9 |
| Permanent Neonatal Diabetes Mellitus | 6 |
| Peroxisomal Acyl-CoA Oxidase Deficiency | 8 |
| Peroxisomal fatty acyl-CoA reductase 1 disorder | 5 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 15 |
| Peroxisome biogenesis disorder 10B | 11 |
| Peroxisome biogenesis disorder 11A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 11B | 13 |
| Peroxisome biogenesis disorder 12A (Zellweger) | 13 |
| Peroxisome biogenesis disorder 13A (Zellweger) | 13 |
| Peroxisome Biogenesis Disorder 14B | 13 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 19 |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | 16 |
| Peroxisome biogenesis disorder 2A (Zellweger) | 16 |
| Peroxisome biogenesis disorder 2B | 15 |
| Peroxisome biogenesis disorder 3A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 3B | 13 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 4B | 15 |
| Peroxisome biogenesis disorder 5A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 5B | 13 |
| Peroxisome biogenesis disorder 6A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 6B | 15 |
| Peroxisome biogenesis disorder 7A (Zellweger) | 14 |
| Peroxisome biogenesis disorder 7B | 13 |
| Peroxisome biogenesis disorder 8A, (Zellweger) | 13 |
| Peroxisome biogenesis disorder 8B | 14 |
| Peroxisome Biogenesis Disorder 9B | 15 |
| Perrault Syndrome | 11 |
| Perrault Syndrome 2 | 5 |
| Perrault Syndrome 3 | 9 |
| Perrault Syndrome 4 | 5 |
| Perrault Syndrome 5 | 13 |
| Perrault syndrome 6 | 3 |
| Perry Syndrome | 9 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | 6 |
| Persistent Mullerian Duct Syndrome | 4 |
| Peters Anomaly | 11 |
| Peters Plus Syndrome | 12 |
| Pettigrew Syndrome | 7 |
| Peutz-Jeghers Syndrome | 12 |
| Pfeiffer Syndrome | 23 |
| Phelan-Mcdermid Syndrome | 6 |
| Phenylketonuria | 5 |
| Pheochromocytoma | 24 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | 6 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial | 4 |
| Phosphoglycerate Dehydrogenase Deficiency | 11 |
| Phosphoglycerate Kinase 1 Deficiency | 15 |
| Phosphoribosylpyrophosphate Synthetase Superactivity | 7 |
| Phosphoserine Aminotransferase Deficiency | 8 |
| Phosphoserine Phosphatase Deficiency | 3 |
| Pick's Disease | 6 |
| Pierpont syndrome | 4 |
| Pierson Syndrome | 7 |
| Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-linked | 6 |
| Pigmentary Retinal Dystrophy | 15 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 | 9 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 | 1 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 | 1 |
| Pigmented Paravenous Chorioretinal Atrophy | 5 |
| Pilarowski-Bjornsson syndrome | 1 |
| Pilomatrixoma | 7 |
| Pineal Hyperplasia And Diabetes Mellitus Syndrome | 6 |
| Pitt-Hopkins Syndrome | 10 |
| Pitt-Hopkins-like syndrome 2 | 8 |
| Pituitary adenoma 3, multiple types, somatic | 3 |
| Pituitary adenoma 5, multiple types | 2 |
| Pituitary Adenoma, Growth Hormone-Secreting | 4 |
| Pituitary Dependent Hypercortisolism | 1 |
| Pituitary Hormone Deficiency, Combined 1 | 2 |
| Pituitary Hormone Deficiency, Combined 2 | 12 |
| Pituitary Hormone Deficiency, Combined 3 | 8 |
| Pituitary Hormone Deficiency, Combined 4 | 10 |
| Pituitary hormone deficiency, combined or isolated, 8 | 2 |
| Pituitary Hormone Deficiency, Combined, 6 | 8 |
| Pityriasis rubra pilaris | 7 |
| Plasminogen Activator Inhibitor Type 1 Deficiency | 2 |
| Plasminogen Deficiency, Type I | 2 |
| Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | 7 |
| Platelet Glycoprotein IV Deficiency | 3 |
| Platyspondylic Lethal Skeletal Dysplasia Torrance Type | 15 |
| Pleuropulmonary Blastoma | 14 |
| Pneumothorax, Primary Spontaneous | 3 |
| Poikiloderma With Neutropenia | 8 |
| Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis | 1 |
| Poirier-Bienvenu neurodevelopmental syndrome | 3 |
| Polyagglutinable Erythrocyte Syndrome | 1 |
| Polyarteritis nodosa, childhood-onset | 7 |
| Polycyctic Kidney Disease 3 | 8 |
| Polycystic Kidney Disease 1 | 9 |
| Polycystic Kidney Disease 2 | 8 |
| Polycystic Kidney Disease 5 | 6 |
| Polycystic Kidney Disease 6 with or without Polycystic Liver Disease | 4 |
| Polycystic kidney disease 7 | 2 |
| Polycystic kidney disease 8 | 2 |
| Polycystic Kidney Disease, Infantile Type | 8 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy | 7 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 6 |
| Polycystic Liver Disease 2 | 2 |
| Polycystic liver disease 3 with or without kidney cysts | 9 |
| Polycystic Liver Disease 4 with or without Kidney Cysts | 8 |
| Polycythemia Vera | 4 |
| Polydactyly Preaxial Type 4 | 13 |
| Polydactyly, Postaxial, Type A1 | 13 |
| Polydactyly, postaxial, type A10 | 3 |
| Polydactyly, postaxial, type A6 | 3 |
| Polydactyly, postaxial, type A7 | 3 |
| Polydactyly, postaxial, type A8 | 4 |
| Polydactyly, postaxial, type A9 | 3 |
| Polydactyly, preaxial I | 3 |
| Polydactyly, Preaxial II | 6 |
| Polydactyly-macrocephaly syndrome | 2 |
| Polyendocrine-polyneuropathy syndrome | 5 |
| Polyglandular Autoimmune Syndrome, Type 1 | 11 |
| Polyglucosan body disease, adult form | 8 |
| Polyglucosan Body Myopathy 1 with or without Immunodeficiency | 9 |
| Polyglucosan Body Myopathy 2 | 6 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy | 3 |
| Polymicrogyria With Optic Nerve Hypoplasia | 5 |
| Polymicrogyria with or without vascular-type EDS | 7 |
| Polymicrogyria, Asymmetric | 8 |
| Polymicrogyria, Bilateral Frontoparietal | 8 |
| Polymicrogyria, bilateral perisylvian | 6 |
| Polymicrogyria, bilateral temporooccipital | 11 |
| Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 5 |
| Polymorphous Corneal Dystrophy | 4 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | 10 |
| Polyostotic Osteolytic Dysplasia, Hereditary Expansile | 10 |
| Pontocerebellar Hypoplasia Type 1 | 8 |
| Pontocerebellar Hypoplasia Type 10 | 6 |
| Pontocerebellar Hypoplasia Type 11 | 4 |
| Pontocerebellar Hypoplasia Type 1B | 9 |
| Pontocerebellar Hypoplasia Type 2A | 8 |
| Pontocerebellar Hypoplasia Type 2B | 7 |
| Pontocerebellar Hypoplasia Type 2C | 6 |
| Pontocerebellar Hypoplasia Type 2D | 7 |
| Pontocerebellar Hypoplasia Type 2E | 5 |
| Pontocerebellar Hypoplasia Type 2F | 6 |
| Pontocerebellar Hypoplasia Type 4 | 8 |
| Pontocerebellar Hypoplasia Type 5 | 8 |
| Pontocerebellar Hypoplasia Type 6 | 8 |
| Pontocerebellar Hypoplasia Type 7 | 6 |
| Pontocerebellar Hypoplasia Type 8 | 6 |
| Pontocerebellar Hypoplasia Type 9 | 7 |
| Pontocerebellar hypoplasia, type 12 | 3 |
| Pontocerebellar hypoplasia, type 13 | 2 |
| Pontocerebellar hypoplasia, type 14 | 1 |
| Pontocerebellar hypoplasia, type 16 | 1 |
| Pontocerebellar hypoplasia, type 1C | 2 |
| Pontocerebellar hypoplasia, type 1D | 3 |
| Pontocerebellar hypoplasia, type 1E | 5 |
| Pontocerebellar hypoplasia, type 3 | 3 |
| Popliteal Pterygium Syndrome | 9 |
| Popliteal pterygium syndrome 2, lethal type | 9 |
| Popliteal pterygium syndrome, Bartsocas-Papas type 2 | 4 |
| Porencephaly 1 | 18 |
| Porencephaly 2 | 12 |
| Poretti-Boltshauser Syndrome | 4 |
| Porokeratosis 1, multiple types | 1 |
| Porokeratosis 7, multiple types | 1 |
| Porokeratosis 9, multiple types | 1 |
| Porokeratosis, Disseminated Superficial Actinic 1 | 9 |
| Porphyria, Acute Hepatic | 4 |
| Porphyria, Congenital Erythropoietic | 5 |
| Portal hypertension, noncirrhotic | 6 |
| Posterior Column Ataxia With Retinitis Pigmentosa | 8 |
| Potassium Aggravated Myotonia | 5 |
| Potocki-Lupski syndrome | 1 |
| Prader-Willi Syndrome | 2 |
| Preaxial Deficiency, Postaxial Polydactyly And Hypospadias | 11 |
| Preeclampsia/Eclampsia 1 | 2 |
| Preimplantation Embryonic Lethality 2 | 2 |
| Premature aging syndrome, Penttinen type | 7 |
| Premature Chromatid Separation Trait | 7 |
| Premature Ovarian Failure | 4 |
| Premature Ovarian Failure 10 | 4 |
| Premature ovarian failure 11 | 5 |
| Premature Ovarian Failure 12 | 3 |
| Premature ovarian failure 15 | 10 |
| Premature ovarian failure 17 | 6 |
| Premature ovarian failure 18 | 2 |
| Premature Ovarian Failure 3 | 6 |
| Premature Ovarian Failure 5 | 3 |
| Premature Ovarian Failure 6 | 4 |
| Premature Ovarian Failure 7 | 6 |
| Premature Ovarian Failure 8 | 4 |
| Premature Ovarian Failure 9 | 4 |
| Preterm Premature Rupture Of The Membranes | 5 |
| Prieto syndrome | 1 |
| Primary Aldosteronism, Seizures, and Neurologic Abnormalities | 9 |
| Primary Autosomal Recessive Microcephaly 1 | 6 |
| Primary Autosomal Recessive Microcephaly 17 | 5 |
| Primary Autosomal Recessive Microcephaly 2 | 7 |
| Primary Autosomal Recessive Microcephaly 3 | 7 |
| Primary Autosomal Recessive Microcephaly 4 | 3 |
| Primary Autosomal Recessive Microcephaly 5 | 6 |
| Primary Autosomal Recessive Microcephaly 6 | 6 |
| Primary Autosomal Recessive Microcephaly 7 | 4 |
| Primary Autosomal Recessive Microcephaly 8 | 3 |
| Primary Autosomal Recessive Microcephaly 9 | 6 |
| Primary Erythromelalgia | 5 |
| Primary Hyperoxaluria, Type I | 6 |
| Primary Hyperoxaluria, Type II | 5 |
| Primary Hyperoxaluria, Type III | 5 |
| Primary Hypomagnesemia | 8 |
| Primary Macronodular Adrenal Hyperplasia | 2 |
| Primary Open Angle Glaucoma | 4 |
| Primary Open Angle Glaucoma Juvenile Onset 1 | 6 |
| Primrose Syndrome | 7 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions 1 | 14 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 2 | 9 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 | 16 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 | 14 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 | 13 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 | 10 |
| Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive | 15 |
| Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 | 8 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 15 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 8 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | 3 |
| Progressive Familial Heart Block Type 1A | 4 |
| Progressive Familial Heart Block Type 1B | 3 |
| Progressive Intrahepatic Cholestasis | 6 |
| Progressive Myoclonus Epilepsy With Ataxia | 1 |
| Progressive Osseous Heteroplasia | 7 |
| Progressive Sclerosing Poliodystrophy | 18 |
| Prolactinoma, Familial | 1 |
| Prolidase Deficiency | 4 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome | 5 |
| Prolonged Electroretinal Response Suppression | 5 |
| Proopiomelanocortin Deficiency | 5 |
| Properdin Deficiency, X-Linked | 3 |
| Propionic Acidemia | 14 |
| Proprotein Convertase 1/3 Deficiency | 13 |
| Prostate Cancer | 30 |
| Prostate Cancer/Brain Cancer Susceptibility | 1 |
| Proteasome-associated autoinflammatory syndrome 2 | 5 |
| Proteasome-associated autoinflammatory syndrome 3 and digenic forms | 6 |
| Proteasome-associated autoinflammatory syndrome 4 | 2 |
| Proteasome-associated autoinflammatory syndrome 6 | 2 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis | 5 |
| Proteus Syndrome | 2 |
| Prothrombin Deficiency, Congenital | 4 |
| Protoporphyria, erythropoietic, 2 | 1 |
| Protoporphyria, Erythropoietic, X-Linked | 7 |
| Proud Levine Carpenter Syndrome | 13 |
| Prune Belly Syndrome | 1 |
| Pseudo Von Willebrand Disease | 6 |
| Pseudo-Hurler Polydystrophy | 7 |
| Pseudo-TORCH Syndrome 1 | 5 |
| Pseudo-TORCH syndrome 2 | 7 |
| Pseudo-TORCH syndrome 3 | 4 |
| Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome | 6 |
| Pseudohyperkalemia, familial, 2, due to red cell leak | 2 |
| Pseudohypoaldosteronism Type 1 Autosomal Dominant | 6 |
| Pseudohypoaldosteronism Type 1 Autosomal Recessive | 8 |
| Pseudohypoaldosteronism, type IB2, autosomal recessive | 1 |
| Pseudohypoaldosteronism, type IB3, autosomal recessive | 1 |
| Pseudohypoaldosteronism, type IIB | 4 |
| Pseudohypoaldosteronism, type IIC | 7 |
| Pseudohypoaldosteronism, type IID | 4 |
| Pseudohypoaldosteronism, type IIE | 6 |
| Pseudohypoparathyroidism Type 1A | 8 |
| Pseudohypoparathyroidism Type 1B | 7 |
| Pseudohypoparathyroidism Type 1C | 7 |
| Pseudopseudohypoparathyroidism | 6 |
| Pseudoxanthoma Elasticum | 17 |
| Pseudoxanthoma Elasticum, Forme Fruste | 10 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency | 5 |
| Psoriasis 15, pustular, susceptibility to | 3 |
| Psoriasis Susceptibility 13 | 3 |
| Psoriasis susceptibility 2 | 7 |
| Psoriasis Susceptibility 7 | 2 |
| Psoriatic Arthritis, Susceptibility To | 1 |
| Psychomotor retardation, epilepsy, and craniofacial dysmorphism | 1 |
| Pulmonary Alveolar Microlithiasis | 1 |
| Pulmonary Arterial Hypertension | 4 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6 | 2 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | 3 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 | 5 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | 3 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 | 11 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 | 8 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 | 9 |
| Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 | 11 |
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | 5 |
| Pulmonary hypertension, neonatal, susceptibility to | 6 |
| Pulmonary hypertension, primary, 2 | 2 |
| Pulmonary hypertension, primary, 3 | 7 |
| Pulmonary hypertension, primary, 4 | 3 |
| Pulmonary Veno-Occlusive Disease | 3 |
| Pulmonary venoocclusive disease 2 | 2 |
| Purine Nucleoside Phosphorylase Deficiency | 7 |
| Pyknodysostosis | 3 |
| Pyle disease | 1 |
| Pyogenic Arthritis, Pyoderma Gangrenosum And Acne | 5 |
| Pyridoxal 5'-Phosphate-Dependent Epilepsy | 6 |
| Pyridoxine-Dependent Epilepsy | 7 |
| Pyruvate Carboxylase Deficiency | 11 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency | 11 |
| Pyruvate Dehydrogenase E1-Beta Deficiency | 6 |
| Pyruvate Dehydrogenase E2 Deficiency | 8 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency | 9 |
| Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency | 9 |
| Pyruvate Dehydrogenase Phosphatase Deficiency | 6 |
| Pyruvate Kinase Deficiency | 4 |
| Quebec Platelet Disorder | 2 |
| Question mark ears, isolated | 2 |
| Rabin-Pappas syndrome | 2 |
| Radio-Tartaglia syndrome | 2 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia | 6 |
| Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 | 5 |
| Rahman syndrome | 1 |
| Raine Syndrome | 3 |
| Rajab interstitial lung disease with brain calcifications | 3 |
| Rajab interstitial lung disease with brain calcifications 2 | 1 |
| Rapadilino Syndrome | 15 |
| Raph Blood Group System | 1 |
| Rapp-Hodgkin Ectodermal Dysplasia Syndrome | 11 |
| RAS-Associated Autoimmune Leukoproliferative Disorder | 15 |
| Recessive Dystrophic Epidermolysis Bullosa | 7 |
| RECON progeroid syndrome | 1 |
| Refsum Disease, Classic | 9 |
| Reifenstein Syndrome | 4 |
| Reis-Bucklers' Corneal Dystrophy | 1 |
| Renal Adysplasia | 4 |
| Renal Cell Carcinoma, Nonpapillary | 17 |
| Renal Cell Carcinoma, Papillary, 1 | 5 |
| Renal Cell Carcinoma, Xp11-Associated | 1 |
| Renal Dysplasia And Retinal Aplasia | 15 |
| Renal Hypodysplasia/Aplasia 2 | 3 |
| Renal Hypodysplasia/Aplasia 3 | 4 |
| Renal hypodysplasia/aplasia 4 | 1 |
| Renal Hypouricemia 2 | 5 |
| Renal Tubular Acidosis With Progressive Nerve Deafness | 5 |
| Renal Tubular Acidosis, Distal, Autosomal Dominant | 5 |
| Renal Tubular Acidosis, Distal, Autosomal Recessive | 5 |
| Renal Tubular Acidosis, Distal, With Hemolytic Anemia | 4 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | 5 |
| Renal Tubular Dysgenesis | 12 |
| Renal-Hepatic-Pancreatic Dysplasia | 8 |
| Renal-hepatic-pancreatic dysplasia 2 | 7 |
| Renpenning Syndrome 1 | 10 |
| Respiratory papillomatosis, juvenile recurrent, congenital | 2 |
| Restrictive dermopathy 2 | 1 |
| Restrictive Dermopathy, Lethal | 11 |
| Reticular Dysgenesis | 7 |
| Reticulate Acropigmentation Of Kitamura | 2 |
| Retinal arteries, tortuosity of | 13 |
| Retinal Cone Dystrophy 3A | 5 |
| Retinal Cone Dystrophy 3B | 5 |
| Retinal Cone Dystrophy 4 | 6 |
| Retinal Dystrophy and Iris Coloboma with or without Cataract | 3 |
| Retinal dystrophy and microvillus inclusion disease | 1 |
| Retinal Dystrophy and Obesity | 3 |
| Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities | 5 |
| Retinal dystrophy with leukodystrophy | 3 |
| Retinal Dystrophy with Macular Staphyloma | 6 |
| Retinal Dystrophy with or without Extraocular Anomalies | 5 |
| Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome | 4 |
| Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome | 3 |
| Retinitis Pigmentosa | 5 |
| Retinitis Pigmentosa 1 | 8 |
| Retinitis Pigmentosa 10 | 6 |
| Retinitis Pigmentosa 11 | 5 |
| Retinitis Pigmentosa 12 | 7 |
| Retinitis Pigmentosa 13 | 6 |
| Retinitis Pigmentosa 14 | 7 |
| Retinitis Pigmentosa 15 | 11 |
| Retinitis Pigmentosa 17 | 6 |
| Retinitis Pigmentosa 18 | 6 |
| Retinitis Pigmentosa 19 | 7 |
| Retinitis Pigmentosa 2 | 5 |
| Retinitis Pigmentosa 20 | 8 |
| Retinitis Pigmentosa 23 | 15 |
| Retinitis Pigmentosa 25 | 6 |
| Retinitis Pigmentosa 26 | 7 |
| Retinitis Pigmentosa 27 | 5 |
| Retinitis Pigmentosa 28 | 6 |
| Retinitis Pigmentosa 30 | 5 |
| Retinitis Pigmentosa 31 | 5 |
| Retinitis pigmentosa 32 | 1 |
| Retinitis Pigmentosa 33 | 6 |
| Retinitis Pigmentosa 35 | 7 |
| Retinitis Pigmentosa 36 | 5 |
| Retinitis Pigmentosa 37 | 7 |
| Retinitis Pigmentosa 38 | 6 |
| Retinitis Pigmentosa 39 | 6 |
| Retinitis Pigmentosa 4 | 8 |
| Retinitis Pigmentosa 40 | 9 |
| Retinitis Pigmentosa 41 | 7 |
| Retinitis Pigmentosa 42 | 7 |
| Retinitis Pigmentosa 43 | 7 |
| Retinitis Pigmentosa 44 | 5 |
| Retinitis Pigmentosa 45 | 5 |
| Retinitis Pigmentosa 46 | 5 |
| Retinitis Pigmentosa 47 | 6 |
| Retinitis Pigmentosa 48 | 6 |
| Retinitis Pigmentosa 49 | 7 |
| Retinitis Pigmentosa 50 | 11 |
| Retinitis Pigmentosa 51 | 10 |
| Retinitis Pigmentosa 54 | 6 |
| Retinitis Pigmentosa 55 | 10 |
| Retinitis Pigmentosa 56 | 6 |
| Retinitis Pigmentosa 57 | 4 |
| Retinitis Pigmentosa 58 | 5 |
| Retinitis Pigmentosa 59 | 10 |
| Retinitis Pigmentosa 60 | 6 |
| Retinitis Pigmentosa 61 | 5 |
| Retinitis Pigmentosa 62 | 4 |
| Retinitis Pigmentosa 66 | 7 |
| Retinitis Pigmentosa 67 | 2 |
| Retinitis Pigmentosa 68 | 6 |
| Retinitis Pigmentosa 69 | 3 |
| Retinitis Pigmentosa 7 | 9 |
| Retinitis Pigmentosa 70 | 2 |
| Retinitis Pigmentosa 71 | 14 |
| Retinitis Pigmentosa 72 | 4 |
| Retinitis Pigmentosa 73 | 6 |
| Retinitis Pigmentosa 74 | 8 |
| Retinitis Pigmentosa 75 | 2 |
| Retinitis pigmentosa 76 | 9 |
| Retinitis Pigmentosa 77 | 4 |
| Retinitis pigmentosa 78 | 1 |
| Retinitis pigmentosa 79 | 6 |
| Retinitis pigmentosa 80 | 8 |
| Retinitis Pigmentosa 81 | 5 |
| Retinitis pigmentosa 83 | 1 |
| Retinitis pigmentosa 84 | 1 |
| Retinitis pigmentosa 85 | 1 |
| Retinitis pigmentosa 86 | 1 |
| Retinitis pigmentosa 87 with choroidal involvement | 2 |
| Retinitis pigmentosa 88 | 1 |
| Retinitis pigmentosa 89 | 1 |
| Retinitis Pigmentosa 9 | 3 |
| Retinitis pigmentosa 90 | 1 |
| Retinitis pigmentosa 91 | 2 |
| Retinitis pigmentosa 93 | 2 |
| Retinitis pigmentosa 98 | 1 |
| Retinitis Pigmentosa and Erythrocytic Microcytosis | 10 |
| Retinitis Pigmentosa with or without Situs Inversus | 4 |
| Retinitis pigmentosa with or without skeletal anomalies | 2 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness | 11 |
| Retinoblastoma | 4 |
| Retinoschisis 1, X-Linked, Juvenile | 6 |
| Rett Syndrome | 10 |
| Rett Syndrome, Congenital Variant | 10 |
| Revesz Syndrome | 7 |
| Reynolds Syndrome | 7 |
| Rh-Null, Regulator Type | 1 |
| Rhabdoid Tumor Predisposition Syndrome 1 | 12 |
| Rhabdoid Tumor Predisposition Syndrome 2 | 19 |
| Rhabdomyosarcoma Alveolar | 6 |
| Rhabdomyosarcoma, embryonal, 2 | 8 |
| Rheumatoid Arthritis | 5 |
| Rhizomelic Chondrodysplasia Punctata Type 1 | 14 |
| Rhizomelic Chondrodysplasia Punctata Type 2 | 9 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 | 8 |
| Rhizomelic chondrodysplasia punctata, type 5 | 12 |
| Rhizomelic limb shortening with dysmorphic features | 2 |
| RHYNS syndrome | 8 |
| Riboflavin deficiency | 4 |
| Riddle Syndrome | 5 |
| Right atrial isomerism | 4 |
| Rigid Spine Muscular Dystrophy 1 | 4 |
| Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal | 5 |
| Ring Dermoid Of Cornea | 11 |
| Rippling Muscle Disease | 6 |
| Ritscher-Schinzel syndrome 1 | 4 |
| Ritscher-Schinzel Syndrome 2 | 2 |
| Roberts Syndrome | 18 |
| Roberts-SC Phocomelia Syndrome | 11 |
| Robinow Syndrome | 11 |
| Robinow syndrome, autosomal dominant 2 | 3 |
| Robinow syndrome, autosomal dominant 3 | 3 |
| Robinow Syndrome, Autosomal Recessive | 10 |
| Robinow syndrome, autosomal recessive 2 | 1 |
| Robinow-Sorauf Syndrome | 8 |
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | 3 |
| Roifman syndrome | 6 |
| Roifman-Chitayat syndrome, digenic | 3 |
| Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked | 2 |
| ROSAH syndrome | 4 |
| Rothmund-Thomson Syndrome | 18 |
| Rotor syndrome | 5 |
| Roussy-Levy Syndrome | 2 |
| Rubinstein-Taybi Syndrome | 22 |
| Rubinstein-Taybi Syndrome 2 | 14 |
| Ruijs-Aalfs syndrome | 1 |
| Sacral agenesis with vertebral anomalies | 2 |
| SADDAN | 12 |
| Saethre-Chotzen Syndrome | 19 |
| Salla Disease | 8 |
| Sandestig-Stefanova syndrome | 2 |
| Sandhoff Disease | 10 |
| Sarcosine Dehydrogenase Deficiency | 1 |
| Saul-Wilson syndrome | 5 |
| Scalp-ear-nipple syndrome | 6 |
| Scaphocephaly, Maxillary Retrusion, And Mental Retardation | 12 |
| Scapuloperoneal Myopathy, Myh7-Related | 5 |
| Scapuloperoneal Myopathy, X-Linked Dominant | 5 |
| Scapuloperoneal Spinal Muscular Atrophy | 8 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type | 2 |
| Schaaf-Yang Syndrome | 5 |
| Schimke Immunoosseous Dysplasia | 10 |
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | 17 |
| Schindler Disease, Type 1 | 5 |
| Schinzel-Giedion Midface Retraction Syndrome | 9 |
| Schizencephaly | 7 |
| Schizophrenia | 6 |
| Schizophrenia 15 | 5 |
| Schizophrenia 17 | 5 |
| Schizophrenia 9 | 1 |
| Schneckenbecken Dysplasia | 3 |
| Schnyder Crystalline Corneal Dystrophy | 3 |
| Schopf-Schulz-Passarge Syndrome | 2 |
| Schuurs-Hoeijmakers Syndrome | 7 |
| Schwannomatosis 1 | 14 |
| Schwannomatosis 2 | 8 |
| Schwartz Jampel Syndrome Type 1 | 4 |
| SCID Due To Absent Class II HLA Antigens | 4 |
| SCID, autosomal recessive, T-negative/B-positive type | 4 |
| Sclerosing cholangitis, neonatal | 5 |
| Sclerosteosis | 2 |
| Sclerosteosis 2 | 7 |
| Scott Syndrome | 4 |
| Sea-Blue Histiocyte Syndrome | 4 |
| Sebastian Syndrome | 3 |
| Seckel Syndrome | 7 |
| Seckel syndrome 10 | 1 |
| Seckel Syndrome 2 | 5 |
| Seckel Syndrome 4 | 5 |
| Seckel Syndrome 5 | 3 |
| Seckel syndrome 6 | 1 |
| Seckel syndrome 7 | 2 |
| Seckel syndrome 8 | 7 |
| Seckel Syndrome 9 | 4 |
| Seizures, Benign Familial Infantile, 2 | 9 |
| Seizures, benign familial infantile, 5 | 7 |
| Seizures, Benign Familial Neonatal, 2 | 6 |
| Seizures, Cortical Blindness, Microcephaly Syndrome | 9 |
| Seizures, early-onset, with neurodegeneration and brain calcification | 1 |
| Seizures, scoliosis, and macrocephaly syndrome | 7 |
| Sengers syndrome | 12 |
| Senior-Loken Syndrome 4 | 9 |
| Senior-Loken Syndrome 5 | 10 |
| Senior-Loken Syndrome 6 | 16 |
| Senior-Loken Syndrome 7 | 14 |
| Senior-Loken Syndrome 8 | 9 |
| Senior-Loken syndrome 9 | 3 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | 16 |
| Sepiapterin Reductase Deficiency | 7 |
| Septooptic Dysplasia | 13 |
| Serkal Syndrome | 5 |
| Serum Level Of Adiponectin 1 | 2 |
| SeSAME Syndrome | 11 |
| Severe Combined Immunodeficiency Due To Ada Deficiency | 10 |
| Severe Combined Immunodeficiency With Microcephaly, Growth Retardation, And Sensitivity To Ionizing Radiation | 4 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation | 6 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive | 8 |
| Severe Congenital Neutropenia Autosomal Dominant | 10 |
| Severe Congenital Neutropenia Autosomal Recessive 3 | 7 |
| Severe Congenital Neutropenia X-Linked | 11 |
| Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, NK Cell-Positive | 8 |
| Severe Myoclonic Epilepsy In Infancy | 11 |
| Severe X-Linked Myotubular Myopathy | 6 |
| Shaheen syndrome | 6 |
| Shashi-Pena syndrome | 5 |
| Short QT Syndrome 1 | 5 |
| Short QT Syndrome 2 | 7 |
| Short QT Syndrome 3 | 8 |
| Short stature with microcephaly and distinctive facies | 5 |
| Short stature with nonspecific skeletal abnormalities | 4 |
| Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 4 |
| Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities | 2 |
| Short stature, brachydactyly, intellectual developmental disability, and seizures | 3 |
| Short stature, developmental delay, and congenital heart defects | 2 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 4 |
| Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | 2 |
| Short Stature, Idiopathic, Autosomal | 4 |
| Short Stature, Idiopathic, X-Linked | 3 |
| Short Stature, Mcrocephaly, and Endocrine Dysfunction | 4 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis | 3 |
| Short stature, Optic nerve atrophy, and Pelger-Huet anomaly | 14 |
| Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 3 |
| SHORT syndrome | 8 |
| Short-Rib Thoracic Dysplasia 10 with or without Polydactyly | 15 |
| Short-Rib Thoracic Dysplasia 11 with or without Polydactyly | 7 |
| Short-Rib Thoracic Dysplasia 13 with or without Polydactyly | 11 |
| Short-rib thoracic dysplasia 14 with polydactyly | 8 |
| Short-rib thoracic dysplasia 15 with polydactyly | 5 |
| Short-rib thoracic dysplasia 16 with or without polydactyly | 6 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 4 |
| Short-rib thoracic dysplasia 18 with polydactyly | 6 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 6 |
| Short-Rib Thoracic Dysplasia 2 with or without Polydactyly | 9 |
| Short-rib thoracic dysplasia 20 with polydactyly | 6 |
| Short-rib thoracic dysplasia 21 without polydactyly | 1 |
| Short-Rib Thoracic Dysplasia 3 with or without Polydactyly | 14 |
| Short-Rib Thoracic Dysplasia 4 with or without Polydactyly | 9 |
| Short-Rib Thoracic Dysplasia 5 with or without Polydactyly | 10 |
| Short-Rib Thoracic Dysplasia 6 with or without Polydactyly | 12 |
| Short-Rib Thoracic Dysplasia 7 with or without Polydactyly | 16 |
| Short-Rib Thoracic Dysplasia 8 with or without Polydactyly | 11 |
| Short-Rib Thoracic Dysplasia 9 with or without Polydactyly | 14 |
| Shprintzen-Goldberg Syndrome | 8 |
| Shukla-Vernon syndrome | 1 |
| Shwachman Syndrome | 10 |
| Shwachman-Diamond syndrome 2 | 9 |
| Sialic Acid Storage Disease, Severe Infantile Type | 9 |
| Sialidosis, Type II | 8 |
| Sialuria | 8 |
| Sick Sinus Syndrome 1, Autosomal Recessive | 3 |
| Sick Sinus Syndrome 2, Autosomal Dominant | 10 |
| Sick Sinus Syndrome 3, Susceptibility To | 5 |
| Sickle Cell Anemia | 2 |
| Siddiqi syndrome | 2 |
| Siderius X-Linked Mental Retardation Syndrome | 3 |
| Sideroblastic Anemia And Mitochondrial Myopathy | 7 |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 11 |
| Sifrim-Hitz-Weiss Syndrome | 8 |
| Simpson-Golabi-Behmel Syndrome | 19 |
| Simpson-Golabi-Behmel Syndrome, Type 2 | 17 |
| Single Upper Central Incisor | 9 |
| Singleton-Merten Syndrome 1 | 10 |
| Singleton-Merten syndrome 2 | 3 |
| Sinoatrial node dysfunction and deafness | 7 |
| Sitosterolemia | 10 |
| Sitosterolemia 2 | 6 |
| Sjogren-Larsson Syndrome | 6 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 3 |
| Skin Fragility Woolly Hair Syndrome | 5 |
| Skin/Hair/Eye Pigmentation, Variation In, 1 | 6 |
| Skin/Hair/Eye Pigmentation, Variation In, 2 | 1 |
| Skin/Hair/Eye Pigmentation, Variation In, 3 | 6 |
| Skin/Hair/Eye Pigmentation, Variation In, 4 | 4 |
| Skin/Hair/Eye Pigmentation, Variation In, 5 | 2 |
| Skin/Hair/Eye Pigmentation, Variation In, 6 | 1 |
| Skin/Hair/Eye Pigmentation, Variation In, 7 | 3 |
| Skraban-Deardorff syndrome | 4 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant | 2 |
| Small Cell Cancer Of The Lung | 2 |
| Small patella syndrome | 5 |
| Smith McCort Dysplasia | 6 |
| Smith-Kingsmore Syndrome | 9 |
| Smith-Lemli-Opitz Syndrome | 28 |
| Smith-Magenis Syndrome | 8 |
| Smith-McCort Dysplasia 2 | 1 |
| Smoking As A Quantitative Trait Locus 3 | 1 |
| Sneddon syndrome | 6 |
| Snijders Blok-Campeau syndrome | 4 |
| Snijders Blok-Fisher syndrome | 1 |
| Snowflake Vitreoretinal Degeneration | 3 |
| Snyder Robinson Syndrome | 13 |
| Sodium Serum Level Quantitative Trait Locus 1 | 5 |
| Sorsby Fondus Dystrophy | 4 |
| Sotos Syndrome 2 | 6 |
| Sotos syndrome 3 | 3 |
| Sotos' Syndrome | 14 |
| Spastic ataxia 1, autosomal dominant | 6 |
| Spastic ataxia 10, autosomal recessive | 3 |
| Spastic Ataxia 2, Autosomal Recessive | 4 |
| Spastic Ataxia 3 | 5 |
| Spastic Ataxia 4, Autosomal Recessive | 8 |
| Spastic ataxia 5, autosomal recessive | 8 |
| Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | 5 |
| Spastic ataxia 9, autosomal recessive | 1 |
| Spastic Ataxia Charlevoix-Saguenay Type | 7 |
| Spastic Paraplegia 10 | 10 |
| Spastic Paraplegia 11 | 13 |
| Spastic Paraplegia 12 | 4 |
| Spastic Paraplegia 13 | 8 |
| Spastic Paraplegia 15 | 9 |
| Spastic Paraplegia 17 | 12 |
| Spastic Paraplegia 18 | 6 |
| Spastic paraplegia 18A, autosomal dominant | 1 |
| Spastic Paraplegia 2 | 10 |
| Spastic Paraplegia 23 | 7 |
| Spastic Paraplegia 26 | 6 |
| Spastic Paraplegia 28 | 6 |
| Spastic Paraplegia 3 | 7 |
| Spastic Paraplegia 30 | 12 |
| Spastic Paraplegia 31 | 7 |
| Spastic Paraplegia 33 | 3 |
| Spastic paraplegia 35 | 8 |
| Spastic Paraplegia 39 | 7 |
| Spastic Paraplegia 4 | 8 |
| Spastic Paraplegia 42 | 10 |
| Spastic Paraplegia 43 | 7 |
| Spastic Paraplegia 44 | 4 |
| Spastic Paraplegia 45 | 5 |
| Spastic Paraplegia 46 | 6 |
| Spastic Paraplegia 47 | 7 |
| Spastic Paraplegia 48 | 6 |
| Spastic Paraplegia 49 | 7 |
| Spastic Paraplegia 50 | 8 |
| Spastic Paraplegia 51 | 7 |
| Spastic Paraplegia 52 | 7 |
| Spastic Paraplegia 53 | 4 |
| Spastic Paraplegia 54 | 7 |
| Spastic Paraplegia 55 | 7 |
| Spastic Paraplegia 56 | 8 |
| Spastic Paraplegia 57 | 8 |
| Spastic Paraplegia 5A | 10 |
| Spastic Paraplegia 6 | 6 |
| Spastic Paraplegia 61 | 4 |
| Spastic Paraplegia 62 | 4 |
| Spastic Paraplegia 63 | 7 |
| Spastic Paraplegia 64 | 5 |
| Spastic Paraplegia 7 | 12 |
| Spastic Paraplegia 72 | 4 |
| Spastic Paraplegia 73 | 5 |
| Spastic Paraplegia 74 | 7 |
| Spastic Paraplegia 75 | 6 |
| Spastic Paraplegia 76 | 5 |
| Spastic Paraplegia 77 | 8 |
| Spastic Paraplegia 78 | 9 |
| Spastic Paraplegia 79 | 7 |
| Spastic paraplegia 79A, autosomal dominant | 2 |
| Spastic Paraplegia 8 | 7 |
| Spastic paraplegia 80, autosomal dominant | 2 |
| Spastic paraplegia 81, autosomal recessive | 2 |
| Spastic paraplegia 82, autosomal recessive | 2 |
| Spastic paraplegia 83, autosomal recessive | 2 |
| Spastic paraplegia 84, autosomal recessive | 4 |
| Spastic paraplegia 86, autosomal recessive | 1 |
| Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia | 3 |
| Spastic Paraplegia 9A | 11 |
| Spastic Paraplegia 9B | 11 |
| Spastic Paraplegia and Psychomotor Retardation with or without Seizures | 7 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity | 6 |
| Spastic paraplegia, optic atrophy, and neuropathy | 3 |
| Spastic tetraplegia and axial hypotonia, progressive | 1 |
| Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 5 |
| Spasticity, childhood-onset, with hyperglycinemia | 6 |
| Specific Granule Deficiency | 5 |
| Specific Granule Deficiency 2 | 5 |
| Speech-Language Disorder 1 | 1 |
| Spermatogenic failure | 6 |
| Spermatogenic failure 1 | 2 |
| Spermatogenic Failure 10 | 2 |
| Spermatogenic Failure 11 | 2 |
| Spermatogenic Failure 12 | 2 |
| Spermatogenic Failure 13 | 2 |
| Spermatogenic Failure 14 | 2 |
| Spermatogenic Failure 15 | 2 |
| Spermatogenic Failure 16 | 2 |
| Spermatogenic Failure 17 | 2 |
| Spermatogenic failure 18 | 7 |
| Spermatogenic Failure 19 | 2 |
| Spermatogenic Failure 2 | 2 |
| Spermatogenic Failure 20 | 2 |
| Spermatogenic Failure 21 | 2 |
| Spermatogenic failure 23 | 2 |
| Spermatogenic failure 24 | 2 |
| Spermatogenic failure 25 | 2 |
| Spermatogenic failure 27 | 5 |
| Spermatogenic failure 28 | 10 |
| Spermatogenic Failure 3 | 2 |
| Spermatogenic failure 31 | 2 |
| Spermatogenic failure 32 | 1 |
| Spermatogenic failure 33 | 2 |
| Spermatogenic failure 34 | 2 |
| Spermatogenic failure 35 | 2 |
| Spermatogenic failure 36 | 2 |
| Spermatogenic failure 37 | 2 |
| Spermatogenic failure 38 | 2 |
| Spermatogenic failure 39 | 2 |
| Spermatogenic Failure 4 | 2 |
| Spermatogenic failure 40 | 2 |
| Spermatogenic failure 41 | 2 |
| Spermatogenic failure 42 | 2 |
| Spermatogenic failure 43 | 6 |
| Spermatogenic failure 44 | 2 |
| Spermatogenic failure 45 | 2 |
| Spermatogenic failure 46 | 5 |
| Spermatogenic failure 47 | 3 |
| Spermatogenic failure 48 | 2 |
| Spermatogenic failure 49 | 2 |
| Spermatogenic failure 51 | 2 |
| Spermatogenic failure 52 | 2 |
| Spermatogenic failure 53 | 2 |
| Spermatogenic failure 56 | 2 |
| Spermatogenic failure 57 | 2 |
| Spermatogenic failure 58 | 4 |
| Spermatogenic Failure 6 | 3 |
| Spermatogenic failure 72 | 4 |
| Spermatogenic Failure 8 | 5 |
| Spermatogenic Failure 9 | 2 |
| Spermatogenic failure, X-linked, 3 | 2 |
| Spermatogenic Failure, Y-Linked, 1 | 1 |
| Spermatogenic Failure, Y-Linked, 2 | 1 |
| Spherocytosis, type 2 | 4 |
| Spherocytosis, Type 3 | 4 |
| Spherocytosis, Type 4 | 5 |
| Spherocytosis, Type 5 | 5 |
| Spheroid Body Myopathy | 3 |
| Sphingolipid Activator Protein 1 Deficiency | 9 |
| Spiegler-Brooke Syndrome | 1 |
| Spinal muscular atrophy with congenital bone fractures 1 | 4 |
| Spinal muscular atrophy with congenital bone fractures 2 | 4 |
| Spinal muscular atrophy with progressive myoclonic epilepsy | 10 |
| Spinal Muscular Atrophy With Respiratory Distress 1 | 4 |
| Spinal muscular atrophy, distal, autosomal recessive, 2 | 5 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | 1 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 | 4 |
| Spinal Muscular Atrophy, Distal, Congenital Nonprogressive | 7 |
| Spinal Muscular Atrophy, Distal, X-Linked 3 | 19 |
| Spinal muscular atrophy, infantile, James type | 1 |
| Spinal muscular atrophy, Jokela type | 4 |
| Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant; SMALED | 9 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 | 6 |
| Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | 2 |
| Spinal Muscular Atrophy, Type I | 1 |
| Spinal Muscular Atrophy, Type II | 1 |
| Spinal Muscular Atrophy, Type III | 1 |
| Spinal Muscular Atrophy, Type IV | 1 |
| Spinocerebellar Ataxia 10 | 1 |
| Spinocerebellar Ataxia 11 | 2 |
| Spinocerebellar Ataxia 13 | 1 |
| Spinocerebellar Ataxia 14 | 1 |
| Spinocerebellar Ataxia 15 | 8 |
| Spinocerebellar Ataxia 17 | 1 |
| Spinocerebellar ataxia 19 | 4 |
| Spinocerebellar Ataxia 2 | 3 |
| Spinocerebellar Ataxia 21 | 2 |
| Spinocerebellar Ataxia 23 | 2 |
| Spinocerebellar ataxia 25 | 2 |
| Spinocerebellar ataxia 26 | 1 |
| Spinocerebellar Ataxia 27 | 2 |
| Spinocerebellar Ataxia 28 | 7 |
| Spinocerebellar ataxia 29, congenital nonprogressive | 8 |
| Spinocerebellar ataxia 34 | 6 |
| Spinocerebellar Ataxia 35 | 2 |
| Spinocerebellar ataxia 37 | 1 |
| Spinocerebellar ataxia 38 | 2 |
| Spinocerebellar ataxia 40 | 4 |
| Spinocerebellar ataxia 41 | 2 |
| Spinocerebellar ataxia 42 | 3 |
| Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | 3 |
| Spinocerebellar ataxia 43 | 3 |
| Spinocerebellar ataxia 44 | 3 |
| Spinocerebellar ataxia 45 | 1 |
| Spinocerebellar ataxia 46 | 3 |
| Spinocerebellar ataxia 47 | 3 |
| Spinocerebellar ataxia 48 | 1 |
| Spinocerebellar ataxia 49 | 1 |
| Spinocerebellar Ataxia 5 | 2 |
| Spinocerebellar Ataxia 6 | 8 |
| Spinocerebellar Ataxia 7 | 2 |
| Spinocerebellar Ataxia Autosomal Recessive 1 | 10 |
| Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy | 2 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 | 4 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 | 2 |
| Spinocerebellar ataxia, autosomal recessive 12 | 8 |
| Spinocerebellar ataxia, autosomal recessive 13 | 3 |
| Spinocerebellar ataxia, autosomal recessive 14 | 2 |
| Spinocerebellar ataxia, autosomal recessive 15 | 2 |
| Spinocerebellar ataxia, autosomal recessive 16 | 1 |
| Spinocerebellar ataxia, autosomal recessive 17 | 1 |
| Spinocerebellar ataxia, autosomal recessive 18 | 3 |
| Spinocerebellar ataxia, autosomal recessive 2 | 4 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 | 5 |
| Spinocerebellar ataxia, autosomal recessive 21 | 4 |
| Spinocerebellar ataxia, autosomal recessive 22 | 1 |
| Spinocerebellar ataxia, autosomal recessive 23 | 2 |
| Spinocerebellar ataxia, autosomal recessive 24 | 3 |
| Spinocerebellar ataxia, autosomal recessive 25 | 3 |
| Spinocerebellar ataxia, autosomal recessive 26 | 1 |
| Spinocerebellar ataxia, autosomal recessive 27 | 1 |
| Spinocerebellar ataxia, autosomal recessive 28 | 2 |
| Spinocerebellar ataxia, autosomal recessive 30 | 1 |
| Spinocerebellar ataxia, autosomal recessive 31 | 2 |
| Spinocerebellar ataxia, autosomal recessive 4 | 3 |
| Spinocerebellar ataxia, autosomal recessive 7 | 8 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 | 4 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | 6 |
| Spinocerebellar ataxia, X-linked 1 | 1 |
| Spitz nevus or nevus spilus, somatic | 16 |
| Split-foot malformation with mesoaxial polydactyly | 5 |
| Split-hand/foot malformation 1 | 4 |
| Split-hand/foot malformation 1 with sensorineural hearing loss | 6 |
| Split-Hand/Foot Malformation 4 | 9 |
| Split-Hand/Foot Malformation 6 | 5 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia | 2 |
| Spondylocarpotarsal Synostosis Syndrome | 6 |
| Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like | 4 |
| Spondylocostal Dysostosis 1 | 5 |
| Spondylocostal Dysostosis 2 | 5 |
| Spondylocostal Dysostosis 3 | 6 |
| Spondylocostal Dysostosis 4 | 5 |
| Spondylocostal Dysostosis 5 | 4 |
| Spondylocostal dysostosis 6 | 4 |
| Spondyloenchondrodysplasia With Immune Dysregulation | 10 |
| Spondyloepimetaphyseal Dysplasia Matrilin-3 Related | 4 |
| Spondyloepimetaphyseal Dysplasia Strudwick Type | 15 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 6 |
| Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 | 2 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type | 2 |
| Spondyloepimetaphyseal dysplasia, Camera-Genevieve type | 5 |
| Spondyloepimetaphyseal dysplasia, Di Rocco type | 2 |
| Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | 1 |
| Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | 2 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type | 2 |
| Spondyloepimetaphyseal dysplasia, Shohat type | 2 |
| Spondyloepimetaphyseal dysplasia, sponastrime type | 4 |
| Spondyloepimetaphyseal dysplasia, X-linked | 5 |
| Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | 6 |
| Spondyloepiphyseal Dysplasia Congenita | 15 |
| Spondyloepiphyseal Dysplasia Maroteaux Type | 6 |
| Spondyloepiphyseal Dysplasia Tarda | 3 |
| Spondyloepiphyseal Dysplasia Tarda Progressive Arthropathy | 2 |
| Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations | 5 |
| Spondyloepiphyseal Dysplasia, Kimberley Type | 2 |
| Spondyloepiphyseal dysplasia, Kondo-Fu type | 1 |
| Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis | 1 |
| Spondyloepiphyseal Sysplasia, Stanescu Type | 14 |
| Spondylometaepiphyseal Dysplasia Short Limb-Hand Type | 5 |
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | 7 |
| Spondylometaphyseal dysplasia with corneal dystrophy | 1 |
| Spondylometaphyseal dysplasia, axial | 5 |
| Spondylometaphyseal dysplasia, corner fracture type | 2 |
| Spondylometaphyseal Dysplasia, Kozlowski Type | 6 |
| Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | 2 |
| Spondylometaphyseal dysplasia, Sedaghatian type | 2 |
| Spondyloocular syndrome | 9 |
| Spondyloperipheral Dysplasia | 15 |
| Spongy Degeneration Of Central Nervous System | 8 |
| Squalene synthase deficiency | 9 |
| Stankiewicz-Isidor syndrome | 2 |
| Stapes Ankylosis With Broad Thumb And Toes | 6 |
| STAR Syndrome | 7 |
| Stargardt Disease 1 | 9 |
| Stargardt Disease 3 | 10 |
| Stargardt Disease 4 | 7 |
| Steel Syndrome | 1 |
| Stickler Syndrome Type 1 | 18 |
| Stickler Syndrome, Type 2 | 15 |
| Stickler Syndrome, Type 3 | 11 |
| Stickler Syndrome, Type 4 | 12 |
| Stickler Syndrome, Type 5 | 12 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular | 20 |
| Stiff Skin Syndrome | 15 |
| STING-associated vasculopathy, infantile-onset | 3 |
| Stocco Dos Santos Syndrome | 3 |
| Stomatin-deficient cryohydrocytosis with neurologic defects | 9 |
| Stomatocytosis I | 1 |
| Stormorken syndrome | 8 |
| Striatal degeneration, autosomal dominant | 2 |
| Striatal Degeneration, Autosomal Dominant | 2 |
| Striatal Necrosis, Bilateral, And Progressive Polyneuropathy | 5 |
| Striatonigral Degeneration Infantile | 1 |
| Striatonigral degeneration, childhood-onset | 3 |
| Stroke 1 | 1 |
| Stroke, hemorrhagic | 12 |
| Stromme syndrome | 11 |
| Structural brain anomalies with impaired intellectual development and craniosynostosis | 1 |
| Sturge-Weber syndrome, somatic, mosaic | 1 |
| Stuttering, familial persistent, 1 | 4 |
| Stuttering, Familial Persistent, 2 | 4 |
| Stuve-Wiedemann Syndrome | 4 |
| Stuve-Wiedemann syndrome 2 | 2 |
| Succinate-Semialdehyde Dehydrogenase Deficiency | 6 |
| Succinyl-CoA Acetoacetate Transferase Deficiency | 5 |
| Sucrase-Isomaltase Deficiency | 4 |
| Sudden cardiac failure, alcohol-induced | 8 |
| Sudden cardiac failure, infantile | 8 |
| Sudden Infant Death Syndrome | 2 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome | 3 |
| Sulfide:quinone oxidoreductase deficiency | 2 |
| Sulfite Oxidase Deficiency | 7 |
| Supranuclear Palsy, Progressive, 1 | 5 |
| Supravalvar Aortic Stenosis | 7 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 | 5 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 | 4 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 | 5 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 | 5 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 | 5 |
| Sveinsson Chorioretinal Atrophy | 2 |
| Sweeney-Cox syndrome | 7 |
| Symmetric circumferential skin creases, congenital, 1 | 2 |
| Symmetric circumferential skin creases, congenital, 2 | 2 |
| Symmetrical Dyschromatosis Of Extremities | 5 |
| Symphalangism, Proximal, 1B | 6 |
| Syndactyly Cenani Lenz Type | 8 |
| Syndactyly Type 3 | 11 |
| Syndactyly Type 5 | 8 |
| Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction | 7 |
| Syndactyly, Type IV | 5 |
| Synpolydactyly 1 | 9 |
| Synpolydactyly 2 | 5 |
| Systemic Carnitine Deficiency | 11 |
| Systemic Lupus Erythematosus | 11 |
| Systemic Lupus Erythematosus 11 | 2 |
| Systemic lupus erythematosus 16 | 3 |
| Systemic lupus erythematosus 17 | 3 |
| Systemic Lupus Erythematosus 2 | 3 |
| Systemic Lupus Erythematosus 9 | 5 |
| T-Cell Immunodeficiency, Congenital Alopecia And Nail Dystrophy | 3 |
| T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations | 3 |
| T-cell lymphoma, subcutaneous panniculitis-like | 4 |
| T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | 2 |
| Takenouchi-Kosaki syndrome | 5 |
| Talipes Equinovarus | 4 |
| Tangier Disease | 4 |
| TARP Syndrome | 5 |
| Tarsal Carpal Coalition Syndrome | 6 |
| Tatton-Brown-Rahman Syndrome | 9 |
| Taurodontism, microdontia, and dens invaginatus | 1 |
| Tay-Sachs Disease | 12 |
| Tay-Sachs disease AB Variant | 12 |
| Telangiectasia, Hereditary Hemorrhagic, Type 5 | 4 |
| Temple-Baraitser Syndrome | 6 |
| Temtamy Preaxial Brachydactyly Syndrome | 6 |
| Temtamy Syndrome | 9 |
| Tenorio Syndrome | 6 |
| Terminal Osseous Dysplasia | 18 |
| Testicular Anomalies with or without Congenital Heart Disease | 11 |
| Testicular Cancer | 20 |
| Testosterone 17-Beta-Dehydrogenase Deficiency | 8 |
| Tetraamelia syndrome 2 | 1 |
| Tetraamelia, Autosomal Recessive | 2 |
| Thalassemias, beta | 2 |
| Thanatophoric Dysplasia Type 1 | 16 |
| Thanatophoric Dysplasia Type 2 | 16 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) | 8 |
| Thiamine Responsive Megaloblastic Anemia Syndrome | 12 |
| Thiel-Behnke Corneal Dystrophy | 2 |
| Thiopurine Methyltransferase Deficiency | 1 |
| Three M Syndrome 1 | 6 |
| Three M Syndrome 2 | 1 |
| Thrombocythemia 2 | 5 |
| Thrombocythemia 3 | 4 |
| Thrombocytopenia 10 | 2 |
| Thrombocytopenia 12 with or without myopathy | 2 |
| Thrombocytopenia 13, syndromic | 1 |
| Thrombocytopenia 2 | 10 |
| Thrombocytopenia 3 | 3 |
| Thrombocytopenia 4 | 6 |
| Thrombocytopenia 5 | 9 |
| Thrombocytopenia 6 | 1 |
| Thrombocytopenia 8, with dysmorphic features and developmental delay | 6 |
| Thrombocytopenia 9 | 2 |
| Thrombocytopenia, anemia, and myelofibrosis | 2 |
| Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia | 11 |
| Thrombocytopenia, Paris-Trousseau Type | 2 |
| Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis | 11 |
| Thrombocytopenia, X-Linked | 11 |
| Thrombocytopenia-Absent Radius Syndrome | 13 |
| Thrombophilia 13, X-linked, due to factor VIII defect | 1 |
| Thrombophilia Due To Activated Protein C Resistance | 4 |
| Thrombophilia Due to Protein S Deficiency, Autosomal Dominant | 6 |
| Thrombophilia Due to Protein S Deficiency, Autosomal Recessive | 6 |
| Thrombophilia Due to Thrombomodulin Defect | 4 |
| Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator | 1 |
| Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant | 5 |
| Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Recessive | 5 |
| Thrombophilia, X-Linked, Due To Factor IX Defect | 3 |
| Thrombosis, Susceptibility To | 10 |
| Thrombotic Thrombocytopenic Purpura | 8 |
| Thyroid Cancer, Follicular | 18 |
| Thyroid Cancer, Hurthle Cell | 3 |
| Thyroid Cancer, Nonmedullary, 4 | 1 |
| Thyroid Cancer, Papillary | 2 |
| Thyroid Dyshormonogenesis 1 | 3 |
| Thyroid Dyshormonogenesis 2A | 3 |
| Thyroid Dyshormonogenesis 3 | 3 |
| Thyroid Dyshormonogenesis 4 | 2 |
| Thyroid Dyshormonogenesis 5 | 3 |
| Thyroid Dyshormonogenesis 6 | 6 |
| Thyroid Hormone Metabolism, Abnormal | 3 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant | 2 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive | 2 |
| Thyroid Hormone Resistance, Selective Pituitary | 2 |
| Thyrotoxic Periodic Paralysis | 2 |
| Thyrotropin-Releasing Hormone Deficiency | 2 |
| Tietz Syndrome | 7 |
| Timothy Syndrome | 15 |
| Tnf Receptor-Associated Periodic Fever Syndrome (Traps) | 10 |
| Tobacco Addiction, Susceptibility To | 6 |
| Tolchin-Le Caignec syndrome | 2 |
| Tooth Agenesis, Selective, 1 | 6 |
| Tooth agenesis, selective, 10 | 1 |
| Tooth Agenesis, Selective, 3 | 3 |
| Tooth Agenesis, Selective, 4 | 3 |
| Tooth agenesis, selective, 8 | 4 |
| Tooth Agenesis, Selective, X-Linked, 1 | 3 |
| Torg Winchester Syndrome | 2 |
| Total Hypotrichosis, Mari Type | 1 |
| Townes-Brocks Syndrome | 14 |
| Townes-Brocks syndrome 2 | 1 |
| Traboulsi syndrome | 4 |
| Transcobalamin II Deficiency | 10 |
| Transferrin Serum Level Quantitative Trait Locus 2 | 1 |
| Transient Bullous Dermolysis Of The Newborn | 5 |
| Transient Neonatal Diabetes Mellitus 1 | 2 |
| Transient Neonatal Diabetes Mellitus 2 | 5 |
| Transient Neonatal Diabetes Mellitus 3 | 4 |
| Transposition Of Great Arteries | 8 |
| Transposition Of The Great Arteries, Dextro-Looped 3 | 6 |
| Treacher Collins Syndrome | 8 |
| Treacher Collins Syndrome 2 | 8 |
| Treacher Collins syndrome 3 | 9 |
| Treacher-Collins syndrome 4 | 1 |
| Tremor Hereditary Essential, 1 | 1 |
| Tricho-Dento-Osseous Syndrome | 3 |
| Trichoepithelioma Multiple Familial 1 | 1 |
| Trichohepatoenteric syndrome 1 | 6 |
| Trichohepatoenteric syndrome 2 | 4 |
| Trichohepatoneurodevelopmental syndrome | 1 |
| Trichorhinophalangeal Dysplasia Type I | 3 |
| Trichorhinophalangeal Syndrome Type 3 | 3 |
| Trichothiodystrophy 2, photosensitive | 10 |
| Trichothiodystrophy 3, photosensitive | 3 |
| Trichothiodystrophy 5, nonphotosensitive | 6 |
| Trichothiodystrophy 6, nonphotosensitive | 3 |
| Trichothiodystrophy 7, nonphotosensitive | 2 |
| Trichothiodystrophy 8, nonphotosensitive | 3 |
| Trichothiodystrophy Photosensitive | 8 |
| Trichothiodystrophy, Nonphotosensitive 1 | 4 |
| Trifunctional Protein Deficiency | 15 |
| Trigonocephaly 2 | 9 |
| Trigonocephaly, Nonsyndromic | 16 |
| Trimethylaminuria | 2 |
| Triokinase and FMN cyclase deficiency syndrome | 1 |
| Tritanopia | 1 |
| Tropical Calcific Pancreatitis | 2 |
| Troyer Syndrome | 8 |
| Trypsinogen Deficiency | 1 |
| Tuberous Sclerosis 1 | 18 |
| Tuberous Sclerosis 2 | 22 |
| Tumor Predisposition Syndrome | 6 |
| Tumor predisposition syndrome 2 | 2 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial | 6 |
| Tumoral calcinosis, hyperphosphatemic, familial, 2 | 5 |
| Tumoral calcinosis, hyperphosphatemic, familial, 3 | 2 |
| Tumoral Calcinosis, Normophosphatemic, Familial | 6 |
| Turcot Syndrome | 18 |
| Turnpenny-Fry syndrome | 1 |
| Tyrosinase-Positive Oculocutaneous Albinism | 6 |
| Tyrosine Hydroxylase Deficiency | 7 |
| Tyrosine Kinase 2 Deficiency | 6 |
| Tyrosinemia Type 2 | 4 |
| Tyrosinemia Type I | 7 |
| Tyrosinemia, Type III | 4 |
| UDPglucose-4-Epimerase Deficiency | 5 |
| Ullrich Congenital Muscular Dystrophy | 13 |
| Ullrich Congenital Muscular Dystrophy 2 | 7 |
| Ulna And Fibula Absence Of With Severe Limb Deficiency | 7 |
| Ulnar-Mammary Syndrome | 7 |
| Unverricht-Lundborg Syndrome | 4 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To | 2 |
| Urocanate Hydratase Deficiency | 2 |
| Urofacial Syndrome 1 | 3 |
| Urofacial syndrome 2 | 2 |
| Uruguay faciocardiomusculoskeletal syndrome | 2 |
| Usher Syndrome Type 3B | 7 |
| Usher Syndrome, Type 1 | 6 |
| Usher Syndrome, Type 1D | 6 |
| Usher Syndrome, Type 1F | 5 |
| Usher syndrome, type 1M | 2 |
| Usher Syndrome, Type 2C | 9 |
| Usher Syndrome, Type 2D | 6 |
| Usher Syndrome, Type 3 | 4 |
| Usher Syndrome, Type Ic | 5 |
| Usher Syndrome, Type Ig | 5 |
| Usher Syndrome, Type IIa | 6 |
| Usher Syndrome, Type IJ | 5 |
| Usher syndrome, type IV | 4 |
| Usmani-Riazuddin syndrome, autosomal dominant | 2 |
| Usmani-Riazuddin syndrome, autosomal recessive | 2 |
| UV-Sensitive Syndrome | 6 |
| UV-sensitive syndrome 2 | 5 |
| Vacterl Association With Hydrocephalus | 2 |
| VACTERL Association With Hydrocephaly, X-Linked | 7 |
| Van Buchem Disease Type 2 | 5 |
| Van Der Woude Syndrome | 8 |
| Van Der Woude Syndrome 2 | 5 |
| Van Esch-O'Driscoll syndrome | 4 |
| Van Maldergem Syndrome 1 | 6 |
| Van Maldergem Syndrome 2 | 11 |
| Variegate Porphyria | 6 |
| Vas Deferens, Congenital Bilateral Aplasia of, X-linked | 2 |
| Vascular malformation, primary intraosseous | 1 |
| Vasculopathy, Retinal, With Cerebral Leukodystrophy | 13 |
| Vater Association | 1 |
| Velocardiofacial Syndrome | 13 |
| Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 1 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 | 1 |
| Ventricular Septal Defect 1 | 10 |
| Ventricular septal defect 2 | 2 |
| Ventricular Septal Defect 3 | 12 |
| Ventricular tachycardia, catecholaminergic polymorphic 6 | 5 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 | 6 |
| Ventricular tachycardia, catecholaminergic polymorphic, 3 | 5 |
| Ventriculomegaly and arthrogryposis | 1 |
| Ventriculomegaly with Cystic Kidney Disease | 7 |
| Verheij syndrome | 4 |
| Vertebral anomalies and variable endocrine and T-cell dysfunction | 2 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 3 |
| Vertebral, cardiac, renal, and limb defects syndrome 2 | 4 |
| Vertebral, cardiac, renal, and limb defects syndrome 3 | 3 |
| Ververi-Brady syndrome | 1 |
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency | 12 |
| Vesicoureteral Reflux 2 | 2 |
| Vesicoureteral Reflux 3 | 2 |
| Vesicoureteral Reflux 8 | 6 |
| VEXAS syndrome, somatic | 2 |
| Vici Syndrome | 15 |
| Visceral myopathy | 2 |
| Visceral myopathy 2 | 4 |
| Visceral neuropathy, familial, 1, autosomal recessive | 1 |
| VISS syndrome | 2 |
| Vissers-Bodmer syndrome | 3 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B | 5 |
| Vitamin D-Dependent Rickets, Type 1 | 6 |
| Vitamin D-Dependent Rickets, Type 2 | 8 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 | 5 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2 | 3 |
| Vitelliform Dystrophy | 9 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 | 3 |
| Vitreoretinochoroidopathy Dominant | 8 |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia | 6 |
| Vitreoretinopathy, Neovascular Inflammatory | 6 |
| VLDLR-Associated Cerebellar Hypoplasia | 6 |
| Vohwinkel syndrome | 5 |
| Von Hippel-Lindau Syndrome | 10 |
| Von Willebrand Disease, Recessive Form | 5 |
| Von Willebrand Disease, Type 1 | 5 |
| Von Willebrand Disease, Type 2 | 5 |
| Waardenburg Syndrome Type 1 | 9 |
| Waardenburg Syndrome, Type 2A | 9 |
| Waardenburg Syndrome, Type 2D | 4 |
| Waardenburg Syndrome, Type 2E | 10 |
| Waardenburg syndrome, type 2F | 3 |
| Waardenburg Syndrome, Type 4A | 8 |
| Waardenburg Syndrome, Type 4B | 8 |
| Waardenburg Syndrome, Type 4C | 9 |
| Wagner Syndrome | 7 |
| Waisman Syndrome | 9 |
| Walker-Warburg Congenital Muscular Dystrophy | 7 |
| Walker-Warburg Congenital Muscular Dystrophy | 18 |
| Warburg Micro Syndrome 1 | 12 |
| Warburg Micro Syndrome 2 | 9 |
| Warburg Micro Syndrome 3 | 9 |
| Warburg Micro Syndrome 4 | 10 |
| Warburg-Cinotti syndrome | 4 |
| Warsaw Breakage Syndrome | 1 |
| Warts, Hypogammaglobulinemia, Infections, And Myelokathexis | 7 |
| Watson Syndrome | 23 |
| Weaver Syndrome | 9 |
| Webb-Dattani syndrome | 3 |
| Weill-Marchesani Syndrome 1 | 7 |
| Weill-Marchesani Syndrome 2 | 18 |
| Weill-Marchesani Syndrome 3 | 9 |
| Weill-Marchesani-Like Syndrome | 2 |
| Weiss-Kruszka syndrome | 1 |
| Weissenbacher-Zweymuller Syndrome | 1 |
| Welander distal myopathy | 3 |
| Werner Syndrome | 8 |
| Weyers Acrofacial Dysostosis | 11 |
| WHIM syndrome 2 | 4 |
| White-Sutton Syndrome | 7 |
| Wieacker-Wolff Syndrome | 7 |
| Wieacker-Wolff syndrome, female-restricted | 4 |
| Wiedemann-Rautenstrauch syndrome | 9 |
| Wiedemann-Steiner Syndrome | 15 |
| Wilms Tumor 6, Susceptibility to | 4 |
| Wilms' Tumor | 34 |
| Wilson's Disease | 9 |
| Wilson-Turner syndrome | 4 |
| Winchester syndrome | 2 |
| Wiskott-Aldrich Syndrome | 13 |
| Wiskott-Aldrich Syndrome 2 | 6 |
| Witteveen-Kolk Syndrome | 4 |
| Wolcott-Rallison Dysplasia | 5 |
| Wolff-Parkinson-White Pattern | 8 |
| Wolfram Syndrome 2 | 7 |
| Wolfram-Like Syndrome, Autosomal Dominant | 11 |
| Wolman disease | 2 |
| Woodhouse-Sakati Syndrome | 6 |
| Woolly Hair, Autosomal Recessive 1 | 1 |
| Worth Disease | 9 |
| Wrinkly Skin Syndrome | 10 |
| X-Linked Agammaglobulinemia | 12 |
| X-Linked Agammaglobulinemia With Growth Hormone Deficiency | 9 |
| X-Linked Anemia Without Thromobocytopenia | 12 |
| X-Linked Familial Atypical Mycobacteriosis, Type 1 | 8 |
| X-Linked Hydrocephalus Syndrome | 7 |
| X-Linked Ichthyosis | 3 |
| X-Linked Infantile Nystagmus | 4 |
| X-Linked Lissencephaly | 8 |
| X-Linked Lissencephaly 2 | 15 |
| X-Linked Periventricular Heterotopia | 19 |
| X-Linked Recessive Nephrolithiasis With Renal Failure | 6 |
| X-Linked Severe Combined Immunodeficiency | 7 |
| X-LinkedMental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance | 12 |
| Xanthinuria, Type I | 5 |
| Xanthinuria, Type II | 2 |
| Xerocytosis Gardos | 5 |
| Xerocytosis, Hereditary | 6 |
| Xeroderma Pigmentosum Type 7 | 8 |
| Xeroderma Pigmentosum, Complementation Group B | 10 |
| Xeroderma Pigmentosum, Complementation Group C | 4 |
| Xeroderma Pigmentosum, Complementation Group D | 9 |
| Xeroderma Pigmentosum, Complementation Group E | 4 |
| Xeroderma Pigmentosum, Complementation Group F | 14 |
| Xeroderma Pigmentosum, Type 1 | 6 |
| Xeroderma Pigmentosum, Variant Type | 4 |
| Xerosis and growth failure with immune and pulmonary dysfunction syndrome | 1 |
| XFE Progeroid Syndrome | 13 |
| Xia-Gibbs syndrome | 7 |
| Yao syndrome | 3 |
| Yoon-Bellen neurodevelopmental syndrome | 1 |
| You-Hoover-Fong syndrome | 3 |
| Young Simpson Syndrome | 7 |
| Yuksel-Vogel-Bauser syndrome | 1 |
| Yunis-Varon Syndrome | 14 |
| Zimmermann-Laband Syndrome 1 | 6 |
| Zimmermann-Laband syndrome 2 | 1 |
| Zimmermann-Laband syndrome 3 | 1 |
| Zinc deficiency, transient neonatal | 1 |
| ZTTK Syndrome | 5 |
| [?Hypertryptophanemia] | 1 |
| [?Phosphohydroxylysinuria] | 1 |
| [Blood group, EMM system] | 1 |
| [Blood group, Langereis system] | 2 |
| [Dysalbuminemic hyperthyroxinemia] | 1 |
| [Eculizumab, poor response to] | 2 |
| [ER blood group system] | 2 |
| [Interleukin 6, serum level of, QTL] | 3 |
| [Interleukin-6 receptor, soluble, serum level of, QTL] | 3 |
| [Low density lipoprotein cholesterol level QTL 3] | 1 |
| [Maleylacetoacetate isomerase deficiency] | 3 |
| [Proteinuria, chronic benign] | 2 |
| [Sedoheptulokinase deficiency] | 1 |
| [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)] | 2 |
| [Skin/hair/eye pigmentation, variation in, 8] | 3 |
| [Uridine-cytidineuria] | 1 |
| {?Epidermodysplasia verruciformis, susceptibility to, 4} | 2 |
| {?Erythroleukemia, familial, susceptibility to} | 1 |
| {?Pancreatic cancer, susceptibility to, 5} | 2 |
| {?Schizophrenia susceptibility 18} | 1 |
| {?Thyroid cancer, nonmedullary, 5} | 1 |
| {ACTH-independent macronodular adrenal hyperplasia 3} | 1 |
| {Autism, susceptibility to, 20} | 1 |
| {Breast-ovarian cancer, familial, susceptibility to, 5} | 7 |
| {Diabetes mellitus, noninsulin-dependent, 5} | 3 |
| {Efavirenz central nervous system toxicity, susceptibility to} | 1 |
| {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11} | 2 |
| {Encephalopathy, acute, infection-induced, susceptibility to, 9} | 1 |
| {Epilepsy, idiopathic generalized, susceptibility to, 15} | 2 |
| {Epilepsy, idiopathic generalized, susceptibility to, 16} | 5 |
| {Epilepsy, idiopathic generalized, susceptibility to, 17} | 2 |
| {Epilepsy, idiopathic generalized, susceptibility to, 18} | 1 |
| {Hydrocephalus, congenital, 5, susceptibility to} | 1 |
| {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} | 1 |
| {Parkinson disease 24, autosomal dominant, susceptibility to} | 3 |
| {Pregnancy loss, recurrent, susceptibility to, 1} | 4 |
| {Pregnancy loss, recurrent, susceptibility to, 2} | 2 |
| {Prostate cancer, hereditary, 2, susceptibility to} | 5 |
| {Prostate cancer, hereditary, 9} | 1 |
| {Prostate cancer, susceptibility to} | 1 |
| {Renal dysplasia, cystic, susceptibility to} | 3 |
| {Rhabdomyolysis, susceptibility to, 1} | 1 |
| {Thiopurines, poor metabolism of, 2} | 1 |
| {Uveal melanoma, susceptibility to, 1} | 2 |
| {Uveal melanoma, susceptibility to, 2} | 2 |
| {Warfarin sensitivity} | 2 |