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Aa-Af

Aagenaes Syndrome (Cholestasis-Lymphedema Syndrome) Aarskog (Scott) Syndrome (Faciodigitogenital Syndrome, Faciogenital Dysplasia) Aarskog-Like Syndrome (Faciodigitogenital Syndrome, Recessive Form; Teebi Naguib Alawadi Syndrome) Aarskog Ose Pande Syndrome (Lipodystrophy Rieger Anomaly Diabetes) AASE Syndrome (Anemia with Triphalangeal Thumbs) AASE Smith Syndrome (Hydrocephalus with Cleft Palate and Joint Contractures) ABCD Syndrome (Albinism, Black Lock, Cell Migration Disorder of the Neurocytes of the Gut, and Deafness) Abdallat Davis Farrage Syndrome (Neurocutaneous Syndrome, Abdallat Type; Spastic Paraplegia-Pigmentary Abnormalities) Abdominal Muscle Absence/Aplasia/Deficiency/Defect Anomalad/Syndrome Abetalipoproteinemia (Bassen Kornzweig Syndrome) Ablepharon Abnormal Development of the Penis/Male Urethra Abruzzo Erickson Syndrome (Charge-Like Syndrome) Absent Abdominal Musculature with Microphthalmia and Joint Laxity Absent Corpus Callosum with Cataract and Immunodeficiency Absent Lateral Incisors Acalvaria (Acrainia) Acanthocytosis/Acanthosis Acanthosis Nigricans Acatalasemia (Catalase Deficiency) Acardius (Twin-Reversed Arterial Perfusion Syndrome, TRAP) Acephaly Aceruloplasminemia (Ceruoplasmin Deficiency, Hypoceruloplasminemia) Achalasia Acheiropodia (Horn Kolb Syndrome) Achondrogenesis (Chondrogenesis Imperfecta, Hypochondrogenesis, [Lethal] Neonatal Dwarfism, Lethal Osteochondrodysplasia) Achondroplasia Achromatopsia Achromacria Acid Cholesterol Ester Hydrolase Deficiency Acid Maltase Deficiency (Glucosidase Acid-1,4-Alpha Deficiency, Glycogen Storage Disease Type II, Pompe Disease) Ackerman Syndrome (Pyramidal Molars with Glaucoma and Abnormal Upper Lip) Acoustic Neurinoma (Neurofibromatosis Type II, Neurofibromatosis Type III, Schwannomatosis) Acral Dysostosis Dyserythropoiesis Syndrome Acral-Renal-Mandibular Syndrome (Split-Hand with Split-Foot and Mandibular Hypoplasia) Acrainia Acro Cephalo Synostosis (Allain Babin Demarquez Syndrome, Craniosynostosis Synostoses Hypertensive Nephropathy) Acro-Coxo-Mesomelic Dysplasia Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) Syndrome (Pigment Anomaly with Ectrodactyly and Hypodontia, Propping Zerres Syndrome) Acrocallosal Syndrome(, Schinzel Type) (Schinzel Syndrome) Acrocephalopolydactyly (Elejalde Syndrome, Neuroectodermal Melanolysosomal Disease) Acrocephalopolydactylous Dysplasia Acrocephalopolysyndactyly (Carpenter's Syndrome) Acrocephalosyndactyly Acrocraniofacial Dysostosis (Kaplan Plauchu Fitch Syndrome) Acrodermatitis Enteropathica(, Zinc Deficiency Type) Acrodysostosis Acrodysplasia-Scoliosis Syndrome (Brachydactyly with Scoliosis and Carpal Fusion, Prata Liberal Goncalves Syndrome) Acrofacial Dysostosis' Acrofrontofacionasal Dysostosis Syndrome Acrogeria Acrokeratoelastoidosis (Collagenous Plaques of Hands) Acromegaloid Facial Appearance Syndrome (AFA, Hughes Syndrome) Acromegaly Acromesomelic Dwarfism/Dysplasia Acromesomelic Syndrome Acromicria Acromicric (Skeletal) Dysplasia Acroosteolysis Acropectorenal Field Defect (Brachydactyly, Absent Pectoral Muscles and Agenesis/Hypoplasia of Kidneys) (F Form of) Acropectorovertebral Dysplasia (F Syndrome) Acrorenal Syndrome (Curran Syndrome) Acrorenal(-Uterine)-Mandibular Syndrome (Split-Hand and Split-Foot with Mandibular Hypoplasia) Acrorenoocular Syndrome (Radioreno-Ocular Syndrome) Acrosyndactyly ACTH (Adrenocorticotropic Hormone) Resistance (ACTH Deficiency, Isolated; Glucocorticoid Deficiency, Familial) Acyl-Coenzyme A (CoA) Dehydrogenase Deficiencies Acyl-Coenzyme A (CoA) Oxydase Deficiency (Pseudoadrenoleukodystrophy, Pseudoneonatal Adrenoleukodystrophy) Adactylia ADAM Complex Adamantiades Behcet's Syndrome Adams Nance Syndrome (Tachycardia with Hypertension, Microphthalmos and Hyperglycinuria) Adams Oliver Syndrome (Absence Defect of Limbs, Scalp, and Skull; Congenital Scalp Defects with Distal Limb Reduction Anomalies) Addison Disease (Adrenal Aplasia, Adrenal Hypoplasia [Congenital, X-Linked], Familial Hypoadrenocorticism) Addison-Schilder Syndrome Addison's Anemia Addison Biermer Anemia Addisonian Pernicious Anemia Adenine Phosphoribosyltransferase Deficiency Adenosine Deaminase Deficiency Adenosine Monophosphate (AMP) Deaminase Deficiency (Myoadenylate Deaminase Deficiency) Adenosine triphosphatase deficiency(, anemia due to) Adenylosuccinase Deficiency (Adenylosuccinate Lyase Deficiency) Adenylosuccinate Lyase Deficiency Adrenal Aplasia Adrenal Hypoplasia Adrenoleukodystrophy Adrenomyodystrophy ADULT Syndrome AEC Syndrome Afibrinogenemia (Dysfibrinogenemia, Familial; Fibrinogen Deficiency, Congenital/Familial; Hypofibrinogenemia, Familial)

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