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Analphalipoproteinemia Andermann Syndrome (Charlevoix Disease, Corpus Callosum Agenesis Neuronopathy) Andersen Disease (Amylopectinosis; Brancher Deficiency; Glycogen Storage Disease, Type IV) Anderson Disease/Syndrome (Chylomicron Retention Disease) (Anderson) Fabry Disease (Alpha-Galactosidase A Deficiency; Angiokeratoma, Diffuse) Androgen Insensitivity Syndrome (Androgen Receptor Deficiency, Androgen Resistance Syndrome, Dihydrotestosterone Receptor Deficiency, Male Pseudohermaphroditism Due to Androgen Insensitivity, Testicular Feminization Syndrome) Androgen Receptor Deficiency Androgen Resistance Syndrome Anemia Anencephaly Angel Shaped Phalango Epiphyseal Dysplasia (ASPED) Syndrome Angelman Syndrome (Happy Puppet Syndrome) Angioedema Angiofollicular Ganglionic/Lymph Hyperplasia Angiokeratoma Angioma Angioneurotic Edema Angioosteohypertrophy Syndrome Aniridia Anisospondylic Camptomicromelic Dwarfism Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Ankyloblepharon with Filiforme Adnatum and Cleft Palate Ankyloglossia with Heterochromia and Clasped Thumbs Ankylosis/Ankylosing Annular Pancreas Anomalous Pulmonary Venous Return (APVR) Anonychia-Ectrodactyly Anophthalmia/Anophthalmos Anorchia, Familial Anotia Ansell Bywaters Elderking Syndrome (Prieur Griscelli Syndrome) Anterior Bowing of the Legs with Dwarfism Anterior Segment Mesenchymal/Ocular Dysgenesis Antihypertensive Drugs Antenatal Infection Antinolo Nieto Borrego Syndrome (Spastic Paraplegia Neuropathy Poikiloderma) Antiphospholipid Syndrome Antisynthetase Syndrome Antley-Bixler Syndrome (Multisynostotic Osteodysgenesis with Long Bone Fractures, Trapezoidocephaly-Synostosis Syndrome) Anyane Yeboa Syndrome (Cleft Lip and Palate, Corneal Opacities, Mental Retardation) Aortic Arch Anomaly with Peculiar Facies and Mental Retardation Aortic Dissection with Lentiginosis Aortic Supravalvular Stenosis Apak Syndrome APECED Syndrome Apert Crouzon Disease Apert-Like Polydactyly Syndrome (Apert Crouzon Disease, Craniosynostosis, Maroteaux Fonfria Type; Maroteaux Fonfria Syndrome) Apert Syndrome Aphalangia Aplasia Cutis Congenita (Congenital Scalp Defect) Apnea Apo A-I Deficiency Apolipoproteine C-II Deficiency Appelt Gerken Lenz Syndrome Apple Peel Syndrome Aprosencephaly Syndrome/Aprosencephaly-Stelencephaly Syndrome Arachnodactyly (Achromacria, Olichostenomelia, Spider Fingers) Arachnoid Cysts ARC Syndrome AREDYLD Syndrome Argininemia (Arginase Deficiency, Hyperargininemia) Argininosuccinic Aciduria (Argininosuccinase Deficiency) Arnold Chiari (Brain) Malformation/Syndrome (ACM, Cerebellomedullary Malformation Syndrome) Arnold Stickler Bourne Syndrome (Corneal Crystals Myopathy Neuropathy) Arnozan[’s] Syndrome Aromatase Deficiency Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency (Dopa Decarboxylase [DDC] Deficiency) Arrhinia (Nose Agenesia) Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Arroyo Garcia Cimadevilla Syndrome (Anophthalmia Esophageal Atresia Cryptorchidism) Arterial Dysplasia (Aortic Supravalvular Stenosis) Arterial Tortuosity Arteriohepatic Dysplasia Arteriovenous Malformations Arthritis Arthrodentoosteodysplasia Arthrogryposis Arthroophtalmopathy Hereditary Progressive Arthropathy, Progressive Pseudorheumatoid, of Childhood Articular Hypermobility Syndrome Arts Syndrome (Fatal X-Linked Ataxia with Deafness and Loss of Vision) Arylsulfatase A (ARSA) Deficiency Arylsulfatase B Deficiency Ascher Syndrome (Blepharochalasis and Double Lip) Aspartylglycosaminuria (Aspartylglucosaminidase [AGA] Deficiency, Glycoasparaginase Deficiency) ASPED Syndrome Asperger Syndrome Asphyxiating Thoracic Dystrophy (Jeune Syndrome, ATD) Asplenia Syndrome (Splenic Agenesis Syndrome) Assas Syndrome Asthma Asymmetric Septal Hypertrophy Ataxia Atelencephalic Microcephaly Syndrome Atelosteogenesis Atkin Flaitz Patil Smith Syndrome (Mental Retardation, X-Linked Nonspecific, Type I) Atransferrinemia (Hypotransferrinemia, Familial) Atrial Cardiomyopathy with Heart Block (Cardiomyopathy, Familial, with Conduction Disturbance) Atrial Fibrillation Atrial Myxoma, Familial (Myxoma, Intracardiac) Atrial Septal Defect Atrial Tachyarrhythmia with Short PR Interval Atrichia Mental and Growth Retardation Atriodigital Dysplasia Atrioventricular [A-V] Block Attention Deficit-Hyperactivity Disorder (ADHD) Aughton Hufnagle Syndrome (Ankyloblepharon Filiforme with Imperforate Anus) Aughton Sloan Milad Syndrome (Nasopharyngeal Teratoma with Dandy Walker and Diaphragmatic Hernia) Aughton Syndrome (Dextrocardia with Unusual Facies and Microphthalmia) Aur Syndrome Aural Atresia Autism Autoimmunity-Immunodeficiency Syndrome Autoimmune Lymphoproliferative Syndrome (Canale Smith Syndrome, Fas Deficiency) Autoimmune Polyendocrinopathy Syndrome Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Autoimmune Polyglandular Syndrome Autonomic Control, Congenital Failure of Axenfeld Rieger Anomaly Axial Mesodermal Dysplasia Spectrum Axial Osteomalacia Axial Osteosclerosis Ayazi Syndrome (Choroideremia Deafness Obesity)


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