Disease Name |
Symbol |
Acronym |
Aapoai Amyloidosis |
APM002 |
|
Aapoaii Amyloidosis |
APM001 |
|
Aapoaiv Amyloidosis |
APV001 |
|
Aarskog Syndrome, Autosomal Dominant |
ARS003 |
|
Aarskog-Scott Syndrome |
ARS001 |
AAS |
Aase-Smith Syndrome I |
ASS004 |
|
Abacavir Allergy |
ABC021 |
|
Abcd Syndrome |
ABC001 |
ABCDS |
Abdominal Chemodectomas with Cutaneous Angiolipomas |
ABD006 |
|
Abdominal Cystic Lymphangioma |
ABD007 |
RCL |
Abdominal Obesity-Metabolic Syndrome 1 |
ABD014 |
AOMS1 |
Abdominal Obesity-Metabolic Syndrome 3 |
ABD013 |
AOMS3 |
Abdominal Obesity-Metabolic Syndrome 4 |
ABD015 |
AOMS4 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
ABD017 |
AOMS1 |
Abdominal Tuberculosis |
ABD004 |
|
Abdominal Wall Defect |
ABD010 |
|
Abducens Nerve Disease |
ABD002 |
|
Abducens Nerve Neoplasm |
ABD001 |
|
Abducens Palsy |
ABD009 |
|
Aberrant Subclavian Artery |
ABR001 |
|
Abetalipoproteinemia |
ABT001 |
ABL |
Abidi X-Linked Mental Retardation Syndrome |
ABD008 |
MRXSAB |
Ablepharon-Macrostomia Syndrome |
ABL002 |
AMS |
Abnormal Hair, Joint Laxity, and Developmental Delay |
ABN011 |
HJDD |
Abnormal Number of Coronary Ostia |
ABN010 |
|
Abnormal Origin of Right or Left Pulmonary Artery from the Aorta |
ABN012 |
|
Abnormal Origin of the Pulmonary Artery |
ABN008 |
|
Abnormal Pupillary Function |
ABN004 |
|
Abnormal Retinal Correspondence |
ABN001 |
|
Abnormal Threshold of Rods |
ABN003 |
|
Abnormality of Glucagon Secretion |
ABN002 |
|
Abri Amyloidosis |
ABR010 |
FBD |
Abruzzo-Erickson Syndrome |
ABR009 |
ABERS |
Absence of Innominate Vein |
ABS017 |
|
Absence of Septum Pellucidum |
ABS003 |
|
Absence of the Pulmonary Artery |
ABS016 |
UAPA |
Absence of Uterine Body |
ABS021 |
|
Absent Breasts and Nipples |
ABS006 |
|
Absent Eyebrows and Eyelashes with Mental Retardation |
ABS020 |
|
Absolute Glaucoma |
ABS022 |
|
Acalculous Cholecystitis |
ACL001 |
|
Acalvaria |
ACL002 |
|
Acanthamoeba Keratitis |
ACN019 |
|
Acanthocephaliasis |
ACN005 |
|
Acantholytic Acanthoma |
ACN004 |
|
Acantholytic Squamous Cell Skin Carcinoma |
ACN008 |
|
Acantholytic Variant Squamous Cell Breast Carcinoma |
ACN009 |
|
Acanthoma |
ACN010 |
|
Acanthosis Nigricans |
ACN002 |
AN |
Acanthosis Nigricans with Muscle Cramps and Acral Enlargement |
ACN028 |
|
Acardia |
ACR022 |
|
Acatalasemia |
ACT209 |
ACATLAS |
Accelerated Tumor Formation |
ACC008 |
ACTFS |
Accessory Mitral Valve Tissue |
ACC011 |
|
Accessory Nerve Disease |
ACC001 |
|
Accessory Pancreas |
ACC005 |
|
Accessory Tricuspid Valve Tissue |
ACC010 |
|
Accommodative Esotropia |
ACC003 |
|
Accommodative Spasm |
ACC002 |
|
Aceruloplasminemia |
ACR006 |
ACERULOP |
Acetaminophen Metabolism |
ACT149 |
|
Acetophenetidin Sensitivity |
ACT237 |
|
Acetylation, Slow |
ACT133 |
|
Acetyl-Coa Acetyltransferase-2 Deficiency |
ACT239 |
ACAT2D |
Acetyl-Coa Carboxylase Deficiency |
ACT086 |
ACACAD |
Achalasia |
ACH005 |
|
Achalasia, Familial Esophageal |
ACH015 |
|
Achalasia-Addisonianism-Alacrima Syndrome |
ACH022 |
AAAS |
Achalasia-Microcephaly Syndrome |
ACH039 |
|
Achard Syndrome |
ACH006 |
|
Achard Thiers Syndrome |
ACH016 |
|
Acheiria |
ACH028 |
|
Acheiropody |
ACH001 |
ACHP |
Achenbach Syndrome |
ACH007 |
|
Achilles Bursitis |
ACH002 |
|
Achondrogenesis |
ACH011 |
|
Achondrogenesis, Type Ia |
ACH033 |
ACG1A |
Achondrogenesis, Type Ib |
ACH042 |
ACG1B |
Achondrogenesis, Type Ii |
ACH041 |
ACG2 |
Achondroplasia |
ACH004 |
ACH |
Achondroplasia, Severe, with Developmental Delay and Acanthosis Nigricans |
ACH043 |
SADDAN |
Achoo Syndrome |
ACH040 |
|
Achromatopsia |
ACH003 |
ACHM |
Achromatopsia 2 |
ACH020 |
ACHM2 |
Achromatopsia 3 |
ACH021 |
ACHM3 |
Achromatopsia 4 |
ACH023 |
ACHM4 |
Achromatopsia 7 |
ACH038 |
ACHM7 |
Acid Anhydride Respiratory Allergy |
ACD012 |
|
Acid Phosphatase Deficiency |
ACD011 |
|
Acid Sphingomyelinase Deficiency |
ACD003 |
|
Acid-Labile Subunit Deficiency |
ACD008 |
ACLSD |
Acidophil Adenoma |
ACD001 |
|
Acinar Cell Carcinoma |
ACN001 |
|
Acinar Cell Carcinoma of Pancreas |
ACN026 |
|
Acinar Cell Cystadenocarcinoma |
ACN007 |
|
Acinetobacter Infectious Disease |
ACN031 |
|
Acinic Cell Breast Carcinoma |
ACN006 |
|
Acitretin Embryopathy |
ACT091 |
|
Acitretin/etretinate Embryopathy |
ACT206 |
|
Ackerman Syndrome |
ACK001 |
|
Acne |
ACN011 |
ACNE |
Acne Inversa, Familial, 1 |
ACN018 |
ACNINV1 |
Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease |
ACN030 |
ACNINV2 |
Acne Inversa, Familial, 3 |
ACN016 |
ACNINV3 |
Acne, Adult |
ACN029 |
|
Acneiform Dermatitis |
ACN003 |
|
Acoustic Neuroma |
ACS001 |
|
Acquired Agranulocytosis |
ACQ011 |
|
Acquired Amegakaryocytic Thrombocytopenia |
ACQ041 |
AAT |
Acquired Amyloid Peripheral Neuropathy |
ACQ059 |
|
Acquired Aneurysmal Subarachnoid Hemorrhage |
ACQ033 |
|
Acquired Angioedema |
ACQ012 |
|
Acquired Angioedema Type 1 |
ACQ035 |
|
Acquired Angioedema Type 2 |
ACQ036 |
AAE 2 |
Acquired Angioedema with C1inh Deficiency |
ACQ052 |
|
Acquired Ataxia |
ACQ056 |
|
Acquired Central Diabetes Insipidus |
ACQ034 |
|
Acquired Chronic Primary Adrenal Insufficiency |
ACQ068 |
|
Acquired Color Blindness |
ACQ001 |
|
Acquired Cutis Laxa |
ACQ027 |
|
Acquired Cystic Disease-Associated Renal Cell Carcinoma |
ACQ048 |
|
Acquired Dermis Elastic Tissue Disorder |
ACQ061 |
|
Acquired Dermis Elastic Tissue Disorder with Decreased Elastic Tissue |
ACQ063 |
|
Acquired Dermis Elastic Tissue Disorder with Increased Elastic Tissue |
ACQ062 |
|
Acquired Gastric Outlet Stenosis |
ACQ006 |
|
Acquired Generalized Lipodystrophy |
ACQ022 |
|
Acquired Hemangioma |
ACQ004 |
|
Acquired Hemophagocytic Lymphohistiocytosis Associated with Malignant Disease |
ACQ049 |
|
Acquired Hemophilia |
ACQ014 |
|
Acquired Hemophilia a |
ACQ042 |
|
Acquired Human Prion Disease |
ACQ069 |
|
Acquired Hyperkeratosis |
ACQ008 |
|
Acquired Immunodeficiency Syndrome |
ACQ007 |
AIDS |
Acquired Kinky Hair Syndrome |
ACQ032 |
|
Acquired Laryngomalacia |
ACQ070 |
|
Acquired Lipodystrophy |
ACQ043 |
|
Acquired Metabolic Disease |
ACQ009 |
|
Acquired Methemoglobinemia |
ACQ047 |
|
Acquired Monoclonal Ig Light Chain-Associated Fanconi Syndrome |
ACQ046 |
|
Acquired Motor Neuron Disease |
ACQ067 |
|
Acquired Neuromuscular Junction Disease |
ACQ066 |
|
Acquired Neutropenia |
ACQ053 |
|
Acquired Night Blindness |
ACQ002 |
|
Acquired Peripheral Movement Disorder |
ACQ060 |
|
Acquired Peripheral Neuropathy |
ACQ054 |
|
Acquired Pituitary Hormone Deficiency |
ACQ065 |
|
Acquired Polycythemia |
ACQ010 |
|
Acquired Porencephaly |
ACQ029 |
|
Acquired Premature Ovarian Failure |
ACQ064 |
|
Acquired Prothrombin Deficiency |
ACQ051 |
|
Acquired Pseudoxanthoma Elasticum |
ACQ026 |
|
Acquired Pure Red Cell Aplasia |
ACQ016 |
|
Acquired Purpura Fulminans |
ACQ039 |
|
Acquired Secondary Polycythemia |
ACQ028 |
|
Acquired Sensory Ganglionopathy |
ACQ058 |
|
Acquired Skeletal Muscle Disease |
ACQ057 |
|
Acquired Tear Duct Stenosis |
ACQ003 |
|
Acquired Thrombocytopenia |
ACQ005 |
|
Acquired Von Willebrand Syndrome |
ACQ017 |
AVWS |
Acral Dysostosis Dyserythropoiesis Syndrome |
ACR023 |
|
Acral Dystrophic Epidermolysis Bullosa |
ACR075 |
|
Acral Lentiginous Melanoma |
ACR014 |
ALM |
Acral Persistent Papular Mucinosis |
ACR080 |
|
Acral Self-Healing Collodion Baby |
ACR078 |
|
Acrocallosal Syndrome |
ACR008 |
ACLS |
Acrocapitofemoral Dysplasia |
ACR002 |
ACFD |
Acrocephalopolydactylous Dysplasia |
ACR025 |
ELEJAS |
Acrocephalopolysyndactyly Type Iii |
ACR106 |
|
Acrocephalopolysyndactyly Type Iv |
ACR108 |
ACPS4 |
Acrocraniofacial Dysostosis |
ACR101 |
|
Acrodermatitis |
ACR005 |
|
Acrodermatitis Chronica Atrophicans |
ACR097 |
|
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
ACR056 |
AEZ |
Acrodysostosis |
ACR013 |
|
Acrodysostosis 1 with or Without Hormone Resistance |
ACR110 |
ACRDYS1 |
Acrodysostosis 2 with or Without Hormone Resistance |
ACR119 |
ACRDYS2 |
Acrodysostosis with Multiple Hormone Resistance |
ACR079 |
|
Acrodysplasia Scoliosis |
ACR027 |
|
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia |
ACR117 |
|
Acrofacial Dysostosis |
ACR017 |
|
Acrofacial Dysostosis 1, Nager Type |
ACR058 |
AFD1 |
Acrofacial Dysostosis Preis Type |
ACR031 |
|
Acrofacial Dysostosis Syndrome of Rodriguez |
ACR104 |
|
Acrofacial Dysostosis, Catania Type |
ACR099 |
ACD |
Acrofacial Dysostosis, Cincinnati Type |
ACR095 |
AFDCIN |
Acrofacial Dysostosis, Kennedy-Teebi Type |
ACR083 |
|
Acrofacial Dysostosis, Palagonia Type |
ACR107 |
PAFD |
Acrofacial Dysostosis, Patagonia Type |
ACR100 |
|
Acrofrontofacionasal Dysostosis |
ACR093 |
|
Acrofrontofacionasal Dysostosis 1 |
ACR103 |
|
Acrofrontofacionasal Dysostosis 2 |
ACR105 |
|
Acrogeria, Gottron Type |
ACR034 |
|
Acrokeratoderma |
ACR120 |
|
Acrokeratoderma, Hereditary Papulotranslucent |
ACR111 |
|
Acrokeratosis Verruciformis |
ACR004 |
AKV |
Acroleukopathy, Symmetric |
ACR112 |
|
Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma |
ACR113 |
|
Acromegaloid Facial Appearance Syndrome |
ACR037 |
|
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia |
ACR089 |
AOCH |
Acromegaloid Hypertrichosis Syndrome |
ACR039 |
HAFF |
Acromegaly |
ACR007 |
|
Acromelanosis |
ACR040 |
|
Acromelic Dysplasia |
ACR121 |
|
Acromelic Frontonasal Dysostosis |
ACR041 |
AFND |
Acromesomelic Dysplasia |
ACR016 |
|
Acromesomelic Dysplasia Campailla Martinelli Type |
ACR042 |
|
Acromesomelic Dysplasia, Demirhan Type |
ACR096 |
AMDD |
Acromesomelic Dysplasia, Hunter-Thompson Type |
ACR009 |
AMDH |
Acromesomelic Dysplasia, Maroteaux Type |
ACR011 |
AMDM |
Acromial Dimples |
ACR114 |
|
Acromicric Dysplasia |
ACR043 |
ACMICD |
Acroosteolysis |
ACR062 |
|
Acropectoral Syndrome |
ACR019 |
ACRPS |
Acro-Pectoro-Renal Field Defect |
ACR045 |
|
Acropectorovertebral Dysplasia |
ACR020 |
ACRPV |
Acrorenal Syndrome |
ACR072 |
|
Acrorenal Syndrome, Autosomal Recessive |
ACR115 |
|
Acrorenal-Mandibular Syndrome |
ACR102 |
ARUMS |
Actg2-Related Disorders |
ACT215 |
|
Acth Deficiency, Isolated |
ACT238 |
IAD |
Acth-Dependent Cushing Syndrome |
ACT245 |
|
Acth-Independent Cushing Syndrome |
ACT244 |
|
Acth-Independent Cushing Syndrome Due to Rare Cortisol-Producing Adrenal Tumor |
ACT243 |
|
Acth-Independent Macronodular Adrenal Hyperplasia |
ACT092 |
AIMAH1 |
Acth-Independent Macronodular Adrenal Hyperplasia 1 |
ACT247 |
|
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
ACT202 |
AIMAH2 |
Acth-Secreting Pituitary Adenoma |
ACT010 |
|
Actin-Accumulation Myopathy |
ACT130 |
|
Actinic Cheilitis |
ACT093 |
|
Actinic Keratosis |
ACT008 |
|
Actinic Lichen Planus |
ACT160 |
|
Actinic Prurigo |
ACT164 |
HPLE |
Actinobacillosis |
ACT016 |
|
Actinomycosis |
ACT055 |
BOIL |
Active Cochlear Meniere's Disease |
ACT015 |
|
Active Cochleovestibular Meniere's Disease |
ACT013 |
|
Active Peptic Ulcer Disease |
ACT058 |
|
Active Vestibular Meniere's Disease |
ACT014 |
|
Actn3 Deficiency |
ACT240 |
|
Acute Ackee Fruit Intoxication |
ACT170 |
|
Acute Adrenal Insufficiency |
ACT150 |
|
Acute Allergic Mucoid Otitis Media |
ACT063 |
|
Acute Allergic Sanguinous Otitis Media |
ACT025 |
|
Acute Allergic Serous Otitis Media |
ACT002 |
|
Acute and Subacute Inflammatory Demyelinating Polyneuropathy |
ACT242 |
|
Acute Annular Outer Retinopathy |
ACT168 |
AAOR |
Acute Anterolateral Myocardial Infarction |
ACT052 |
|
Acute Apical Periodontitis |
ACT046 |
|
Acute Articular Rheumatism |
ACT094 |
|
Acute Asthma |
ACT249 |
|
Acute Basophilic Leukemia |
ACT177 |
|
Acute Bilirubin Encephalopathy |
ACT241 |
ABE |
Acute Canaliculitis |
ACT026 |
|
Acute Cervicitis |
ACT066 |
|
Acute Chest Syndrome |
ACT017 |
|
Acute Cholangitis |
ACT036 |
|
Acute Cholinergic Dysautonomia |
ACT096 |
ACD |
Acute Closed-Angle Glaucoma |
ACT028 |
|
Acute Conjunctivitis |
ACT067 |
|
Acute Contagious Conjunctivitis |
ACT011 |
|
Acute Cor Pulmonale |
ACT056 |
|
Acute Cystitis |
ACT068 |
|
Acute Dacryoadenitis |
ACT030 |
|
Acute Dacryocystitis |
ACT037 |
|
Acute Diarrhea |
ACT004 |
|
Acute Diffuse Nephritis |
ACT041 |
|
Acute Disseminated Encephalomyelitis |
ACT049 |
ADE |
Acute Disseminated Encephalomyelitis with Anti-Mog Antibodies |
ACT252 |
|
Acute Disseminated Encephalomyelitis Without Anti-Mog Antibodies |
ACT253 |
|
Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion |
ACT191 |
AESD |
Acute Encephalopathy with Inflammation-Mediated Status Epilepticus |
ACT192 |
|
Acute Endometritis |
ACT069 |
|
Acute Endophthalmitis |
ACT047 |
|
Acute Erythroid Leukemia |
ACT098 |
|
Acute Ethmoiditis |
ACT034 |
|
Acute Eustachian Salpingitis |
ACT045 |
|
Acute Female Pelvic Peritonitis |
ACT054 |
|
Acute Flaccid Myelitis |
ACT231 |
|
Acute Frontal Sinusitis |
ACT035 |
|
Acute Generalized Exanthematous Pustulosis |
ACT167 |
AGEP |
Acute Gonococcal Cervicitis |
ACT048 |
|
Acute Gonococcal Cystitis |
ACT006 |
|
Acute Gonococcal Endometritis |
ACT057 |
|
Acute Gonococcal Epididymo-Orchitis |
ACT039 |
|
Acute Gonococcal Prostatitis |
ACT024 |
|
Acute Gonococcal Salpingitis |
ACT023 |
|
Acute Graft Versus Host Disease |
ACT135 |
|
Acute Hemorrhagic Conjunctivitis |
ACT012 |
|
Acute Hemorrhagic Encephalitis |
ACT065 |
|
Acute Hemorrhagic Leukoencephalitis |
ACT032 |
AHL |
Acute Hydrops Keratoconus |
ACT005 |
|
Acute Infection of Pinna |
ACT044 |
|
Acute Inferolateral Myocardial Infarction |
ACT051 |
|
Acute Inferoposterior Infarction |
ACT050 |
|
Acute Inflammation of Lacrimal Passage |
ACT070 |
|
Acute Insulin Response |
ACT088 |
AIR |
Acute Interstitial Pneumonia |
ACT029 |
AIP |
Acute Kidney Failure |
ACT071 |
|
Acute Kidney Tubular Necrosis |
ACT003 |
|
Acute Laryngitis |
ACT072 |
|
Acute Laryngopharyngitis |
ACT018 |
|
Acute Leukemia |
ACT073 |
|
Acute Liver Failure |
ACT134 |
|
Acute Lymphoblastic Leukemia Congenital Sporadic Aniridia |
ACT102 |
|
Acute Macular Neuroretinopathy |
ACT235 |
AMNR |
Acute Mast Cell Leukemia |
ACT246 |
|
Acute Maxillary Sinusitis |
ACT059 |
|
Acute Megakaryoblastic Leukemia in Down Syndrome |
ACT186 |
|
Acute Megakaryoblastic Leukemia Without Down Syndrome |
ACT165 |
|
Acute Megakaryocytic Leukemia |
ACT250 |
AMKL |
Acute Monoblastic Leukemia |
ACT200 |
|
Acute Monoblastic/monocytic Leukemia |
ACT248 |
|
Acute Motor and Sensory Axonal Neuropathy |
ACT236 |
AMSAN |
Acute Motor Axonal Neuropathy |
ACT181 |
AMAN |
Acute Mountain Sickness |
ACT105 |
|
Acute Myeloblastic Leukemia with Maturation |
ACT113 |
|
Acute Myeloblastic Leukemia Without Maturation |
ACT114 |
|
Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Alkylating Agent |
ACT184 |
|
Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Radiation |
ACT158 |
|
Acute Myeloid Leukemia and Myelodysplastic Syndromes Related to Topoisomerase Type 2 Inhibitor |
ACT185 |
|
Acute Myeloid Leukemia with 11q23 Abnormalities |
ACT179 |
|
Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) |
ACT193 |
AMMOL |
Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) |
ACT196 |
|
Acute Myeloid Leukemia with Minimal Differentiation |
ACT234 |
|
Acute Myeloid Leukemia with Npm1 Somatic Mutations |
ACT199 |
|
Acute Myeloid Leukemia with Recurrent Genetic Anomaly |
ACT217 |
|
Acute Myeloid Leukemia with T(6;9)(p23;q34) |
ACT198 |
|
Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation |
ACT190 |
|
Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation |
ACT194 |
|
Acute Myeloid Leukemia with T(9;11)(p22;q23) |
ACT195 |
|
Acute Myeloid Leukemia with T(9;22)(q34.1;q11.2) |
ACT254 |
|
Acute Myocardial Infarction |
ACT075 |
|
Acute Myocarditis |
ACT076 |
|
Acute Necrotizing Encephalitis |
ACT064 |
ANE |
Acute Necrotizing Encephalopathy Type 1 |
ACT229 |
ANE1 |
Acute Neonatal Citrullinemia Type I |
ACT189 |
|
Acute Non Lymphoblastic Leukemia |
ACT118 |
|
Acute Opioid Poisoning |
ACT171 |
|
Acute Orbital Inflammation |
ACT077 |
|
Acute Pancreatitis |
ACT027 |
|
Acute Pandysautonomia |
ACT161 |
|
Acute Panmyelosis with Myelofibrosis |
ACT176 |
|
Acute Pericementitis |
ACT062 |
|
Acute Perichondritis of Pinna |
ACT007 |
|
Acute Peripheral Arterial Occlusion |
ACT174 |
|
Acute Poisoning by Drugs with Membrane-Stabilizing Effect |
ACT173 |
|
Acute Porphyria |
ACT078 |
|
Acute Posterior Multifocal Placoid Pigment Epitheliopathy |
ACT201 |
AMPPE |
Acute Poststreptococcal Glomerulonephritis |
ACT040 |
|
Acute Proliferative Glomerulonephritis |
ACT079 |
|
Acute Promyelocytic Leukemia |
ACT119 |
APL |
Acute Pulmonary Heart Disease |
ACT080 |
|
Acute Pure Sensory Neuropathy |
ACT163 |
|
Acute Pyelonephritis |
ACT042 |
|
Acute Radiation Syndrome |
ACT228 |
|
Acute Retinal Necrosis Syndrome |
ACT022 |
|
Acute Retrobulbar Neuritis |
ACT038 |
|
Acute Salpingitis |
ACT081 |
|
Acute Salpingo-Oophoritis |
ACT031 |
|
Acute Sanguinous Otitis Media |
ACT082 |
|
Acute Sensory Ataxic Neuropathy |
ACT162 |
ASAN |
Acute Serous Otitis Media |
ACT083 |
|
Acute Sphenoidal Sinusitis |
ACT061 |
|
Acute Stress Disorder |
ACT084 |
|
Acute Thyroiditis |
ACT053 |
|
Acute Transverse Myelitis |
ACT159 |
|
Acute Transverse Myelitis with Anti-Mog Antibodies |
ACT251 |
|
Acute Tricyclic Antidepressant Poisoning |
ACT172 |
|
Acute Tympanitis |
ACT001 |
|
Acute Vascular Insufficiency of Intestine |
ACT060 |
|
Acute Zonal Occult Outer Retinopathy |
ACT120 |
AZOOR |
Acyl-Coa Dehydrogenase Deficiency |
ACY011 |
|
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of |
ACY009 |
ACADMD |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of |
ACY005 |
ACADSD |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of |
ACY010 |
ACADVLD |
Adactylia, Unilateral |
ADC008 |
|
Adamantinoid Basal Cell Epithelioma |
ADM002 |
|
Adamantinoma of Long Bones |
ADM013 |
|
Adamantinous Craniopharyngioma |
ADM001 |
|
Adams-Oliver Syndrome |
ADM011 |
AOS |
Adams-Oliver Syndrome 1 |
ADM005 |
AOS1 |
Adams-Oliver Syndrome 2 |
ADM007 |
AOS2 |
Adams-Oliver Syndrome 3 |
ADM008 |
AOS3 |
Adams-Oliver Syndrome 4 |
ADM009 |
AOS4 |
Adams-Oliver Syndrome 5 |
ADM010 |
AOS5 |
Adams-Oliver Syndrome 6 |
ADM012 |
AOS6 |
Adamtsl4-Related Eye Disorders |
ADM003 |
|
Adcy5 Dyskinesia |
ADC009 |
|
Adducted Thumbs Syndrome |
ADD006 |
|
Adenine Phosphoribosyltransferase Deficiency |
ADN024 |
APRTD |
Adenocarcinoid Tumor |
ADN026 |
|
Adenocarcinoma |
ADN016 |
|
Adenocarcinoma in Situ |
ADN012 |
|
Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract |
ADN082 |
|
Adenocarcinoma of the Liver and Intrahepatic Biliary Tract |
ADN087 |
|
Adenocarcinoma of the Penis |
ADN086 |
|
Adenofibroma |
ADN017 |
|
Adenohypophysitis |
ADN064 |
|
Adenoid Basal Carcinoma of the Cervix Uteri |
ADN062 |
|
Adenoid Basal Cell Carcinoma |
ADN015 |
|
Adenoid Cystic Carcinoma |
ADN011 |
|
Adenoid Hypertrophy |
ADN067 |
|
Adenoid Squamous Cell Carcinoma |
ADN013 |
|
Adenoiditis |
ADN002 |
|
Adenoma |
ADN018 |
|
Adenoma of Pancreas |
ADN072 |
|
Adenomatoid Tumor |
ADN014 |
|
Adenomyoma |
ADN075 |
|
Adenomyoma of Uterine Corpus |
ADN019 |
|
Adenomyosis |
ADN027 |
|
Adenosarcoma |
ADN020 |
|
Adenosarcoma of the Cervix Uteri |
ADN061 |
|
Adenosarcoma of the Corpus Uteri |
ADN059 |
|
Adenosarcoma of the Uterus |
ADN028 |
|
Adenosine Deaminase Deficiency |
ADN001 |
ADA |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due to |
ADN084 |
|
Adenosine Triphosphatase Deficiency, Anemia Due to |
ADN079 |
|
Adenosine Triphosphate, Elevated, of Erythrocytes |
ADN039 |
PKHYP |
Adenosquamous Bile Duct Carcinoma |
ADN003 |
|
Adenosquamous Breast Carcinoma |
ADN004 |
|
Adenosquamous Carcinoma |
ADN009 |
|
Adenosquamous Colon Carcinoma |
ADN006 |
|
Adenosquamous Gallbladder Carcinoma |
ADN005 |
|
Adenosquamous Lung Carcinoma |
ADN089 |
|
Adenosquamous Prostate Carcinoma |
ADN007 |
|
Adenosylcobalamin Deficiency |
ADN090 |
|
Adenovirus Infection in Immunocompromised Patients |
ADN063 |
|
Adenylate Kinase Deficiency, Hemolytic Anemia Due to |
ADN085 |
HAAKD |
Adenylosuccinase Deficiency |
ADN022 |
ADSLD |
Adenylosuccinase Lyase Deficiency |
ADN058 |
|
Adermatoglyphia |
ADR038 |
ADERM |
Adhesions of Uterus |
ADH001 |
|
Adhesive Otitis Media |
ADH006 |
|
Adiaspiromycosis |
ADS001 |
|
Adie Pupil |
ADP007 |
ADIEP |
Adiponectin, Serum Level of, Quantitative Trait Locus 1 |
ADP010 |
ADIPQTL1 |
Adiponectin, Serum Level of, Quantitative Trait Locus 2 |
ADP008 |
ADIPQTL2 |
Adiponectin, Serum Level of, Quantitative Trait Locus 3 |
ADP009 |
ADIPQTL3 |
Adiponectin, Serum Level of, Quantitative Trait Locus 4 |
ADP011 |
ADIPQTL4 |
Adiponectin, Serum Level of, Quantitative Trait Locus 5 |
ADP012 |
ADIPQTL5 |
Adiposis Dolorosa |
ADP001 |
|
Adjustment Disorder |
ADJ001 |
|
Adnexal Spiradenoma/cylindroma of a Sweat Gland |
ADN030 |
|
Adnp-Related Intellectual Disability and Autism Spectrum Disorder |
ADN076 |
|
Adolescence-Adult Electroclinical Syndrome |
ADL051 |
|
Adolescent-Onset Epilepsy Syndrome |
ADL098 |
|
Adrenal Adenoma |
ADR008 |
|
Adrenal Carcinoma |
ADR005 |
|
Adrenal Cortex Disease |
ADR009 |
|
Adrenal Cortical Adenocarcinoma |
ADR004 |
|
Adrenal Cortical Adenoma |
ADR041 |
|
Adrenal Cortical Carcinoma |
ADR016 |
ACC |
Adrenal Cortical Hypofunction |
ADR010 |
|
Adrenal Gland Disease |
ADR012 |
|
Adrenal Gland Ganglioneuroblastoma |
ADR006 |
|
Adrenal Gland Pheochromocytoma |
ADR040 |
|
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency |
ADR052 |
AH5 |
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency |
ADR042 |
AH3 |
Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
ADR048 |
AH2 |
Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency |
ADR051 |
AH4 |
Adrenal Hypoplasia, Congenital |
ADR049 |
AHC |
Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizing Hormone |
ADR047 |
|
Adrenal Hypoplasia, Cytomegalic Type |
ADR053 |
|
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete |
ADR056 |
AICSR |
Adrenal Medulla Cancer |
ADR014 |
|
Adrenal Neuroblastoma |
ADR003 |
|
Adrenal Rest Tumor |
ADR001 |
|
Adrenal/paraganglial Tumor |
ADR058 |
|
Adrenocortical Carcinoma with Pure Aldosterone Hypersecretion |
ADR035 |
|
Adrenocortical Carcinoma, Hereditary |
ADR054 |
ADCC |
Adrenocortical Hypofunction, Chronic Primary Congenital |
ADR050 |
|
Adrenocortical Unresponsiveness to Acth with Postreceptor Defect |
ADR055 |
|
Adrenogenital Syndrome |
ADR057 |
|
Adrenoleukodystrophy |
ADR007 |
ALD |
Adrenomyeloneuropathy |
ADR022 |
AMN |
Adrenomyodystrophy |
ADR023 |
AMD |
Adult Acute Lymphocytic Leukemia |
ADL052 |
|
Adult Acute Monocytic Leukemia |
ADL093 |
|
Adult Acute Respiratory Distress Syndrome |
ADL080 |
|
Adult Astrocytic Tumour |
ADL053 |
|
Adult Botryoid Rhabdomyosarcoma |
ADL031 |
|
Adult Brain Ependymoma |
ADL040 |
|
Adult Brain Stem Glioma |
ADL054 |
|
Adult Brainstem Astrocytoma |
ADL004 |
|
Adult Brainstem Gliosarcoma |
ADL021 |
|
Adult Brainstem Mixed Glioma |
ADL003 |
|
Adult Central Nervous System Choriocarcinoma |
ADL024 |
|
Adult Central Nervous System Embryonal Carcinoma |
ADL007 |
|
Adult Central Nervous System Germinoma |
ADL036 |
|
Adult Central Nervous System Immature Teratoma |
ADL012 |
|
Adult Central Nervous System Mature Teratoma |
ADL011 |
|
Adult Central Nervous System Mixed Germ Cell Tumor |
ADL029 |
|
Adult Central Nervous System Primitive Neuroectodermal Neoplasm |
ADL022 |
|
Adult Central Nervous System Teratoma |
ADL055 |
|
Adult Cerebellar Neoplasm |
ADL026 |
|
Adult Choroid Plexus Cancer |
ADL018 |
|
Adult Cystic Nephroma |
ADL099 |
|
Adult Cystic Teratoma |
ADL013 |
|
Adult Dermatomyositis |
ADL027 |
|
Adult Endodermal Sinus Tumor |
ADL047 |
|
Adult Ependymoblastoma |
ADL045 |
|
Adult Epithelioid Sarcoma |
ADL038 |
|
Adult Extraosseous Chondrosarcoma |
ADL028 |
|
Adult Extraosseous Osteosarcoma |
ADL034 |
|
Adult Familial Nephronophthisis-Spastic Quadriparesia Syndrome |
ADL092 |
|
Adult Fibrosarcoma |
ADL019 |
|
Adult Hepatocellular Carcinoma |
ADL096 |
|
Adult Infiltrating Astrocytic Neoplasm |
ADL044 |
|
Adult Intestinal Botulism |
ADL069 |
|
Adult Intracranial Malignant Hemangiopericytoma |
ADL049 |
|
Adult Krabbe Disease |
ADL071 |
|
Adult Leptomeningeal Melanoma |
ADL009 |
|
Adult Liposarcoma |
ADL015 |
|
Adult Lymphoma |
ADL001 |
|
Adult Malignant Hemangiopericytoma |
ADL048 |
|
Adult Malignant Mesenchymoma |
ADL020 |
|
Adult Malignant Schwannoma |
ADL042 |
|
Adult Medulloblastoma |
ADL023 |
|
Adult Mesenchymal Chondrosarcoma |
ADL005 |
|
Adult Myxoid Chondrosarcoma |
ADL046 |
|
Adult Neuronal Ceroid Lipofuscinosis |
ADL066 |
ANCL |
Adult Oligodendroglioma |
ADL008 |
|
Adult Papillary Meningioma |
ADL033 |
|
Adult Pineal Parenchymal Tumor |
ADL056 |
|
Adult Pineoblastoma |
ADL025 |
|
Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type |
ADL062 |
|
Adult Respiratory Distress Syndrome |
ADL010 |
ALI |
Adult Spinal Cord Ependymoma |
ADL041 |
|
Adult Spinal Cord Glioblastoma Multiforme |
ADL035 |
|
Adult Syndrome |
ADL002 |
ADULT SYNDROME |
Adult T-Cell Leukemia |
ADL017 |
ATLL |
Adult Teratoma |
ADL057 |
|
Adult Type Testicular Granulosa Cell Tumor |
ADL043 |
|
Adult Vagina Botryoid Rhabdomyosarcoma |
ADL032 |
|
Adult Xanthogranuloma |
ADL037 |
|
Adult-Onset Citrullinemia Type I |
ADL083 |
|
Adult-Onset Distal Myopathy Due to Vcp Mutation |
ADL074 |
|
Adult-Onset Immunodeficiency with Anti-Interferon-Gamma Autoantibodies |
ADL095 |
|
Adult-Onset Myasthenia Gravis |
ADL084 |
|
Adult-Onset Nemaline Myopathy |
ADL068 |
|
Adult-Onset Severe Asthma |
ADL100 |
|
Adult-Onset Steinert Myotonic Dystrophy |
ADL101 |
|
Adult-Onset Still's Disease |
ADL030 |
AOSD |
Advanced Sleep Phase Syndrome |
ADV001 |
FASPS |
Advanced Sleep Phase Syndrome, Familial, 1 |
ADV003 |
FASPS1 |
Advanced Sleep Phase Syndrome, Familial, 2 |
ADV007 |
FASPS2 |
Advanced Sleep Phase Syndrome, Familial, 3 |
ADV006 |
FASPS3 |
Adverse Events of 5-Alpha-Reductase Inhibitors |
ADV004 |
|
Aerobic Actinomyces Infection |
ARB002 |
|
Afferent Loop Syndrome |
AFF001 |
|
Afib Amyloidosis |
AFB003 |
|
Afibrinogenemia, Congenital |
AFB002 |
CAFBN |
Aflatoxins-Related Hepatocellular Carcinoma |
AFL001 |
|
African Histoplasmosis |
AFR001 |
|
African Tick-Bite Fever |
AFR002 |
|
Agammaglobulinemia |
AGM001 |
IGHM |
Agammaglobulinemia 1, Autosomal Recessive |
AGM013 |
AGM1 |
Agammaglobulinemia 2, Autosomal Recessive |
AGM021 |
AGM2 |
Agammaglobulinemia 3, Autosomal Recessive |
AGM022 |
AGM3 |
Agammaglobulinemia 4, Autosomal Recessive |
AGM023 |
AGM4 |
Agammaglobulinemia 5, Autosomal Dominant |
AGM024 |
AGM5 |
Agammaglobulinemia 6, Autosomal Recessive |
AGM020 |
AGM6 |
Agammaglobulinemia 7, Autosomal Recessive |
AGM015 |
AGM7 |
Agammaglobulinemia 8, Autosomal Dominant |
AGM017 |
AGM8 |
Agammaglobulinemia, Microcephaly, and Severe Dermatitis |
AGM003 |
|
Agammaglobulinemia, Non-Bruton Type |
AGM004 |
|
Agammaglobulinemia, X-Linked |
AGM019 |
XLA |
Aganglionosis, Total Intestinal |
AGN004 |
TIA |
Agenesis of Cerebral White Matter |
AGN015 |
|
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome |
AGN018 |
ACOGS |
Agenesis of the Corpus Callosum and Congenital Lymphedema |
AGN017 |
|
Agenesis of the Corpus Callosum with Peripheral Neuropathy |
AGN003 |
ACCPN |
Agenesis of the Superior Vena Cava |
AGN011 |
|
Age-Related Hearing Impairment 1 |
AGR013 |
ARHI1 |
Age-Related Hearing Impairment 2 |
AGR014 |
ARHI2 |
Age-Related Hearing Loss |
AGR019 |
|
Aggrecan-Related Bone Disorder |
AGG010 |
|
Aggressive B-Cell Non-Hodgkin Lymphoma |
AGG011 |
|
Aggressive Digital Papillary Adenocarcinoma |
AGG003 |
|
Aggressive Nk-Cell Leukemia |
AGG012 |
ANKL |
Aggressive Periodontitis |
AGG001 |
|
Aggressive Primary Cutaneous B-Cell Lymphoma |
AGG009 |
|
Aggressive Primary Cutaneous T-Cell Lymphoma |
AGG008 |
|
Aggressive Systemic Mastocytosis |
AGG002 |
ASM |
Aging |
AGN016 |
AGING |
Aglossia and Situs Inversus |
AGL001 |
|
Agnathia-Microstomia-Synotia |
AGN006 |
|
Agnathia-Otocephaly Complex |
AGN012 |
AGOTC |
Agnosia |
AGN002 |
|
Agoraphobia |
AGR002 |
|
Agraphia |
AGR018 |
|
Agyria Pachygyria Polymicrogyria |
AGY001 |
|
Agyria-Pachygyria Type 1 |
AGY002 |
|
Ah Amyloidosis |
AHM002 |
|
Ahumada Del Castillo Syndrome |
AHM001 |
|
Aicardi Syndrome |
ACR012 |
AIC |
Aicardi-Goutieres Syndrome |
ACR001 |
AGS |
Aicardi-Goutieres Syndrome 1 |
ACR116 |
AGS1 |
Aicardi-Goutieres Syndrome 2 |
ACR090 |
AGS2 |
Aicardi-Goutieres Syndrome 3 |
ACR088 |
AGS3 |
Aicardi-Goutieres Syndrome 4 |
ACR091 |
AGS4 |
Aicardi-Goutieres Syndrome 5 |
ACR092 |
AGS5 |
Aicardi-Goutieres Syndrome 6 |
ACR081 |
AGS6 |
Aicardi-Goutieres Syndrome 7 |
ACR084 |
AGS7 |
Aica-Ribosuria Due to Atic Deficiency |
ACR122 |
AICAR |
Aids - Neurological Complications |
ADS006 |
|
Aids Dementia Complex |
ADS004 |
ADC |
Aids Dysmorphic Syndrome |
ADS005 |
|
Aids Phobia |
ADS003 |
|
Aids Wasting Syndrome |
ADS015 |
|
Ainhum |
ANH001 |
|
Aip Familial Isolated Pituitary Adenomas |
APF001 |
|
Airway-Centered Interstitial Fibrosis |
ARW003 |
ACIF |
Akaba Hayasaka Syndrome |
AKB001 |
|
Akesson Syndrome |
AKS001 |
|
Akinetic Mutism |
AKN002 |
|
Akinetopsia |
AKN001 |
|
Aksu Von Stockhausen Syndrome |
AKS002 |
|
Al Amyloidosis |
ALM001 |
|
Al Gazali Aziz Salem Syndrome |
ALG003 |
|
Al Gazali Khidr Prem Chandran Syndrome |
ALG004 |
|
Al Gazali Sabrinathan Nair Syndrome |
ALG005 |
|
Al Kaissi Syndrome |
ALK023 |
ALKAS |
Alacrima, Achalasia, and Mental Retardation Syndrome |
ALC028 |
AAMR |
Alacrima, Congenital, Autosomal Dominant |
ALC031 |
|
Alacrima, Congenital, Autosomal Recessive |
ALC032 |
|
Alagille Syndrome 1 |
ALG028 |
ALGS1 |
Alagille Syndrome 2 |
ALG016 |
ALGS2 |
Aland Island Eye Disease |
ALN001 |
AIED |
Alanine Aminotransferase, Plasma Level of, Quantitative Trait Locus 1 |
ALN004 |
|
Alanine Aminotransferase, Plasma Level of, Quantitative Trait Locus 2 |
ALN005 |
|
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus |
ALN003 |
|
Alar Cleft, Isolated |
ALR004 |
|
Alazami Syndrome |
ALZ030 |
ALAZS |
Alazami-Yuan Syndrome |
ALZ044 |
ALYUS |
Albinism |
ALB002 |
|
Albinism, Ocular, Type I |
ALB024 |
OA1 |
Albinism, Ocular, with Late-Onset Sensorineural Deafness |
ALB025 |
OASD |
Albinism, Oculocutaneous, Type Ia |
ALB009 |
OCA1A |
Albinism, Oculocutaneous, Type Ib |
ALB010 |
OCA1B |
Albinism, Oculocutaneous, Type Ii |
ALB021 |
OCA2 |
Albinism, Oculocutaneous, Type Iii |
ALB020 |
OCA3 |
Albinism, Oculocutaneous, Type Iv |
ALB019 |
OCA4 |
Albinism, Oculocutaneous, Type V |
ALB015 |
OCA5 |
Albinism, Oculocutaneous, Type Vi |
ALB017 |
OCA6 |
Albinism, Oculocutaneous, Type Vii |
ALB016 |
OCA7 |
Albinism-Deafness Syndrome |
ALB003 |
ADFN |
Albinism-Microcephaly-Digital Anomalies Syndrome |
ALB022 |
|
Albright Like Syndrome |
ALB007 |
|
Alcohol Dependence |
ALC007 |
|
Alcohol Sensitivity, Acute |
ALC016 |
|
Alcohol Use Disorder |
ALC033 |
|
Alcoholic Cardiomyopathy |
ALC010 |
|
Alcoholic Gastritis |
ALC012 |
|
Alcoholic Hepatitis |
ALC006 |
|
Alcoholic Liver Cirrhosis |
ALC009 |
|
Alcoholic Neuropathy |
ALC011 |
|
Alcoholic Pancreatitis |
ALC005 |
|
Alcoholic Psychosis |
ALC003 |
|
Alcohol-Induced Mental Disorder |
ALC013 |
|
Alcohol-Related Birth Defect |
ALC001 |
ARBD |
Alcohol-Related Neurodevelopmental Disorder |
ALC002 |
ARND |
Alcuronium Bromide Allergy |
ALC034 |
|
Aldosterone-Producing Adenoma |
ALD013 |
|
Aldred Syndrome |
ALD006 |
|
Alect2 Amyloidosis |
ALC030 |
|
Aleukemic Leukemia Cutis |
ALK003 |
|
Aleukemic Monocytic Leukemia Cutis |
ALK002 |
|
Aleutian Mink Disease |
ALT002 |
|
Alexander Disease |
ALX003 |
ALXDRD |
Alexia |
ALX001 |
|
Alexithymia |
ALX002 |
|
Alezzandrini Syndrome |
ALZ038 |
|
Alg1-Congenital Disorder of Glycosylation |
ALG025 |
CDGIK |
Alg6-Congenital Disorder of Glycosylation |
ALG024 |
CDGIC |
Al-Gazali Syndrome |
ALG026 |
ALGAZ |
Al-Gazali-Bakalinova Syndrome |
ALG027 |
AGBK |
Al-Gazali-Donnai-Mueller Syndrome |
ALG007 |
|
Algoneurodystrophy |
ALG001 |
|
Alien Hand Syndrome |
ALN006 |
|
Alk+ Histiocytosis |
ALK005 |
|
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 1 |
ALK019 |
|
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 2 |
ALK020 |
|
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 3 |
ALK021 |
|
Alkaline Phosphatase, Plasma Level of, Quantitative Trait Locus 4 |
ALK022 |
|
Alkaptonuria |
ALK013 |
AKU |
Alkhurma Hemorrhagic Fever |
ALK001 |
|
Alk-Negative Anaplastic Large Cell Lymphoma |
ALK016 |
|
Alk-Positive Anaplastic Large Cell Lymphoma |
ALK015 |
|
Alk-Positive Large B-Cell Lymphoma |
ALK017 |
|
Alk-Related Neuroblastic Tumor Susceptibility |
ALK018 |
|
Alkuraya-Kucinskas Syndrome |
ALK024 |
ALKKUCS |
Allain-Babin-Demarquez Syndrome |
ALL011 |
|
Allan-Herndon-Dudley Syndrome |
ALL001 |
AHDS |
Allergic Angiitis |
ALL012 |
|
Allergic Asthma |
ALL006 |
|
Allergic Bronchopulmonary Aspergillosis |
ALL008 |
ABPA |
Allergic Bronchopulmonary Aspergillosis, Familial |
ALL027 |
ABPA |
Allergic Conjunctivitis |
ALL009 |
|
Allergic Contact Dermatitis |
ALL010 |
|
Allergic Contact Dermatitis of Eyelid |
ALL005 |
|
Allergic Cutaneous Vasculitis |
ALL002 |
|
Allergic Disease |
ALL029 |
|
Allergic Encephalomyelitis |
ALL014 |
|
Allergic Rhinitis |
ALL003 |
ALRH |
Allergic Urticaria |
ALL007 |
|
Allescheriosis |
ALL004 |
|
Alobar Holoprosencephaly |
ALB014 |
|
Alopecia |
ALP008 |
|
Alopecia Antibody Deficiency |
ALP049 |
|
Alopecia Areata |
ALP009 |
AA |
Alopecia Areata 1 |
ALP039 |
AA1 |
Alopecia Areata 2 |
ALP040 |
AA2 |
Alopecia Intellectual Disability Syndrome 2 |
ALP081 |
APMR2 |
Alopecia Totalis |
ALP048 |
|
Alopecia Universalis Congenita |
ALP097 |
ALUNC |
Alopecia Universalis Congenita, Xy Gonadal Dysgenesis, and Laryngomalacia |
ALP102 |
|
Alopecia Universalis Onychodystrophy Vitiligo |
ALP024 |
|
Alopecia, Androgenetic, 1 |
ALP061 |
AGA1 |
Alopecia, Androgenetic, 2 |
ALP036 |
AGA2 |
Alopecia, Androgenetic, 3 |
ALP037 |
AGA3 |
Alopecia, Congenital |
ALP099 |
ALPC |
Alopecia, Familial Focal |
ALP096 |
ALPF |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
ALP041 |
ANES |
Alopecia, Psychomotor Epilepsy, Pyorrhea, and Mental Subnormality |
ALP089 |
|
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
ALP091 |
|
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
ALP067 |
|
Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan |
ALP092 |
|
Alopecia-Intellectual Disability Syndrome |
ALP068 |
APMR1 |
Alopecia-Mental Retardation Syndrome |
ALP110 |
|
Alopecia-Mental Retardation Syndrome 1 |
ALP076 |
APMR1 |
Alopecia-Mental Retardation Syndrome 2 |
ALP075 |
APMR2 |
Alopecia-Mental Retardation Syndrome 3 |
ALP063 |
APMR3 |
Alopecia-Mental Retardation Syndrome 4 |
ALP109 |
APMR4 |
Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism |
ALP090 |
|
Alpha Chain Disease |
ALP005 |
|
Alpha Granule Disease |
ALP108 |
|
Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
ALP094 |
|
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
ALP095 |
|
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
ALP042 |
T-CMVA |
Alpha-1-Antitrypsin Deficiency |
ALP103 |
A1ATD |
Alpha-2-Deficient Collagen Disease |
ALP098 |
|
Alpha-2-Macroglobulin Deficiency |
ALP062 |
A2MD |
Alpha-2-Plasmin Inhibitor Deficiency |
ALP043 |
APLID |
Alpha-Crystallinopathy |
ALP080 |
|
Alpha-Fetoprotein Deficiency |
ALP072 |
AFPD |
Alpha-Fetoprotein, Hereditary Persistence of |
ALP088 |
HPAFP |
Alpha-Heavy Chain Disease |
ALP087 |
IPSID |
Alpha-Ketoglutarate Dehydrogenase Deficiency |
ALP011 |
|
Alpha-Methylacetoacetic Aciduria |
ALP077 |
3KTD |
Alpha-Methylacyl-Coa Racemase Deficiency |
ALP012 |
AMACRD |
Alpha-Thalassemia |
ALP101 |
A-THAL |
Alpha-Thalassemia and Related Diseases |
ALP107 |
|
Alpha-Thalassemia Myelodysplasia Syndrome |
ALP013 |
ATMDS |
Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related |
ALP093 |
HBHR |
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked |
ALP100 |
ATRX |
Alpha-Thalassemia-Abnormal Morphogenesis |
ALP029 |
|
Alport Syndrome |
ALP004 |
|
Alport Syndrome 1, X-Linked |
ALP106 |
ATS1 |
Alport Syndrome 2, Autosomal Recessive |
ALP105 |
ATS2 |
Alport Syndrome 3, Autosomal Dominant |
ALP104 |
ATS3 |
Al-Raqad Syndrome |
ALR002 |
ARS |
Als2-Related Disorders |
ALS003 |
|
Alsing Syndrome |
ALS004 |
|
Alstrom Syndrome |
ALS001 |
ALMS |
Alternating Esotropia |
ALT004 |
|
Alternating Exotropia |
ALT003 |
|
Alternating Hemiplegia of Childhood |
ALT001 |
AHC |
Alternating Hemiplegia of Childhood 1 |
ALT008 |
AHC1 |
Alternating Hemiplegia of Childhood 2 |
ALT007 |
AHC2 |
Aluminosis |
ALM003 |
|
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins |
ALV007 |
ACDMPV |
Alveolar Echinococcosis |
ALV002 |
|
Alveolar Periostitis |
ALV001 |
|
Alveolar Soft Part Sarcoma |
ALV005 |
ASPS |
Alveoli Adenoma |
ALV003 |
|
Alzheimer Disease |
ALZ034 |
AD |
Alzheimer Disease 10 |
ALZ057 |
AD10 |
Alzheimer Disease 11 |
ALZ058 |
AD11 |
Alzheimer Disease 12 |
ALZ012 |
AD12 |
Alzheimer Disease 13 |
ALZ059 |
AD13 |
Alzheimer Disease 14 |
ALZ060 |
AD14 |
Alzheimer Disease 15 |
ALZ061 |
AD15 |
Alzheimer Disease 16 |
ALZ014 |
AD16 |
Alzheimer Disease 17 |
ALZ031 |
AD17 |
Alzheimer Disease 18 |
ALZ032 |
AD18 |
Alzheimer Disease 19 |
ALZ062 |
AD19 |
Alzheimer Disease 2 |
ALZ049 |
AD2 |
Alzheimer Disease 3 |
ALZ056 |
AD |
Alzheimer Disease 4 |
ALZ054 |
AD4 |
Alzheimer Disease 5 |
ALZ050 |
AD5 |
Alzheimer Disease 6 |
ALZ015 |
AD6 |
Alzheimer Disease 7 |
ALZ053 |
AD7 |
Alzheimer Disease 8 |
ALZ016 |
AD8 |
Alzheimer Disease 9 |
ALZ045 |
AD9 |
Alzheimer Disease Mitochondrial |
ALZ029 |
AD-MT |
Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology |
ALZ052 |
|
Alzheimer's Disease 1 |
ALZ063 |
AD1 |
Amastia, Bilateral, with Ureteral Triplication and Dysmorphism |
AMS004 |
|
Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis |
AMR007 |
|
Amaurosis Fugax |
AMR003 |
|
Amblyopia |
AMB002 |
|
Amebiasis |
AMB001 |
|
Amed Syndrome, Digenic |
AMD002 |
AMEDS |
Amegakaryocytic Thrombocytopenia, Congenital |
AMG001 |
CAMT |
Amelanotic Melanoma |
AML001 |
|
Amelia |
AML065 |
|
Amelia and Terminal Transverse Hemimelia |
AML060 |
|
Amelia of Lower Limb |
AML036 |
|
Amelia of Upper Limb |
AML037 |
|
Amelia, Posterior, with Pelvic and Pulmonary Hypoplasia Syndrome |
AML066 |
PAPPAS |
Ameloblastic Carcinoma |
AML004 |
|
Ameloblastoma |
AML029 |
|
Amelogenesis Imperfecta |
AML002 |
AI |
Amelogenesis Imperfecta Hypomaturation Type |
AML005 |
AIH |
Amelogenesis Imperfecta Hypoplastic Type, Ig |
AML006 |
ERS |
Amelogenesis Imperfecta Local Hypoplastic |
AML008 |
|
Amelogenesis Imperfecta Pigmented Hypomaturation Type |
AML010 |
|
Amelogenesis Imperfecta Type 2a1 |
AML063 |
|
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
AML013 |
AI2A1 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
AML014 |
AI2A2 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
AML015 |
AI2A3 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
AML039 |
AI2A4 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
AML062 |
AI2A5 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
AML058 |
AI2A6 |
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 |
AML011 |
AIH3 |
Amelogenesis Imperfecta, Type Ia |
AML047 |
AI1A |
Amelogenesis Imperfecta, Type Ib |
AML017 |
AI1B |
Amelogenesis Imperfecta, Type Ic |
AML018 |
AI1C |
Amelogenesis Imperfecta, Type Ie |
AML061 |
AI1E |
Amelogenesis Imperfecta, Type if |
AML050 |
AI1F |
Amelogenesis Imperfecta, Type Ig |
AML044 |
AI1G |
Amelogenesis Imperfecta, Type Ih |
AML048 |
AI1H |
Amelogenesis Imperfecta, Type Iiia |
AML057 |
AI3A |
Amelogenesis Imperfecta, Type Iiib |
AML056 |
AI3B |
Amelogenesis Imperfecta, Type Iiic |
AML064 |
AI3C |
Amelogenesis Imperfecta, Type Ij |
AML059 |
AI1J |
Amelogenesis Imperfecta, Type Iv |
AML020 |
AI4 |
Ameloonychohypohidrotic Syndrome |
AML012 |
|
Amenorrhea |
AMN001 |
|
Amenorrhea-Galactorrhea Syndrome |
AMN015 |
|
American Histoplasmosis |
AMR001 |
|
Ametropic Amblyopia |
AMT001 |
|
Amino Acid Metabolic Disorder |
AMN002 |
|
Amino Acid or Protein Metabolism Disease with Epilepsy |
AMN018 |
|
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis |
AMN016 |
|
Aminoacidopathies |
AMN012 |
|
Aminoaciduria |
AMN006 |
|
Aminoacylase 1 Deficiency |
AMN007 |
ACY1D |
Aminoacylase Deficiency |
AMN004 |
|
Aminolevulinate Dehydratase Deficiency Porphyria |
AMN008 |
|
Aminolevulinic Acid Dehydratase Deficiency Porphyria |
AMN017 |
|
Aminopterin Syndrome Sine Aminopterin |
AMN014 |
ASSA |
Aminopterin/methotrexate Embryofetopathy |
AMN013 |
|
Aml with Myelodysplasia-Related Features |
AML051 |
|
Amme Complex |
AMM001 |
ATS-MR |
Amnestic Disorder |
AMN003 |
|
Amobarbital, Deficient N-Hydroxylation of |
AMB006 |
|
Amodiaquine Allergy |
AMD001 |
|
Amoebiasis Due to Free-Living Amoebae |
AMB005 |
|
Amoebic Keratitis |
AMB007 |
|
Amoxicillin Allergy |
AMX001 |
|
Amphetamine Abuse |
AMP007 |
|
Ampola Syndrome |
AMP011 |
|
Ampulla of Vater Adenocarcinoma |
AMP009 |
|
Ampulla of Vater Adenosquamous Carcinoma |
AMP004 |
|
Ampulla of Vater Cancer |
AMP013 |
|
Ampulla of Vater Clear Cell Adenocarcinoma |
AMP008 |
|
Ampulla of Vater Mucinous Adenocarcinoma |
AMP001 |
|
Ampulla of Vater Neoplasm |
AMP003 |
|
Ampulla of Vater Small Cell Carcinoma |
AMP002 |
|
Ampulla of Vater Squamous Cell Carcinoma |
AMP006 |
|
Ampullary Signet Ring Cell Adenocarcinoma |
AMP005 |
|
Amusia |
AMS001 |
|
Amyloid Neuropathy |
AMY005 |
|
Amyloid Tumor |
AMY002 |
|
Amyloidosis |
AMY004 |
|
Amyloidosis Aa |
AMY009 |
|
Amyloidosis Beta2m |
AMY010 |
DRA |
Amyloidosis Bronchopulmonary |
AMY011 |
|
Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation |
AMY015 |
|
Amyloidosis, Cutaneous Bullous |
AMY101 |
|
Amyloidosis, Familial Visceral |
AMY082 |
AMYL8 |
Amyloidosis, Finnish Type |
AMY084 |
AMYL5 |
Amyloidosis, Hereditary, Transthyretin-Related |
AMY087 |
AMYL-TTR |
Amyloidosis, Primary Localized Cutaneous, 1 |
AMY060 |
PLCA1 |
Amyloidosis, Primary Localized Cutaneous, 2 |
AMY056 |
PLCA2 |
Amyloidosis, Primary Localized Cutaneous, 3 |
AMY111 |
PLCA3 |
Amyotonia Congenita |
AMY018 |
|
Amyotrophic Dystonic Paraplegia |
AMY100 |
|
Amyotrophic Lateral Sclerosis 1 |
AMY091 |
ALS1 |
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia |
AMY106 |
ALS10 |
Amyotrophic Lateral Sclerosis 11 |
AMY083 |
ALS11 |
Amyotrophic Lateral Sclerosis 12 with or Without Frontotemporal Dementia |
AMY113 |
ALS12 |
Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia |
AMY104 |
ALS15 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
AMY057 |
ALS16 |
Amyotrophic Lateral Sclerosis 18 |
AMY067 |
ALS18 |
Amyotrophic Lateral Sclerosis 19 |
AMY059 |
ALS19 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
AMY058 |
ALS2 |
Amyotrophic Lateral Sclerosis 20 |
AMY063 |
ALS20 |
Amyotrophic Lateral Sclerosis 21 |
AMY069 |
ALS21 |
Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia |
AMY099 |
ALS22 |
Amyotrophic Lateral Sclerosis 23 |
AMY108 |
ALS23 |
Amyotrophic Lateral Sclerosis 24 |
AMY110 |
ALS24 |
Amyotrophic Lateral Sclerosis 25 |
AMY112 |
ALS25 |
Amyotrophic Lateral Sclerosis 26 with or Without Frontotemporal Dementia |
AMY114 |
ALS26 |
Amyotrophic Lateral Sclerosis 3 |
AMY088 |
ALS3 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
AMY045 |
ALS4 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
AMY094 |
ALS5 |
Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia |
AMY105 |
ALS6 |
Amyotrophic Lateral Sclerosis 7 |
AMY089 |
ALS7 |
Amyotrophic Lateral Sclerosis 8 |
AMY090 |
ALS8 |
Amyotrophic Lateral Sclerosis 9 |
AMY085 |
ALS9 |
Amyotrophic Lateral Sclerosis Type 12 |
AMY081 |
ALS12 |
Amyotrophic Lateral Sclerosis Type 14 |
AMY074 |
ALS14 |
Amyotrophic Lateral Sclerosis Type 15 |
AMY079 |
ALS15 |
Amyotrophic Lateral Sclerosis Type 22 |
AMY109 |
|
Amyotrophic Lateral Sclerosis Type 5 |
AMY022 |
ALS5 |
Amyotrophic Lateral Sclerosis Type 6 |
AMY023 |
ALS6 |
Amyotrophic Lateral Sclerosis with Polyglucosan Bodies |
AMY103 |
|
Amyotrophic Lateral Sclerosis, Juvenile, with Dementia |
AMY102 |
|
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 |
AMY027 |
ALS-PDC1 |
Amyotrophic Neuralgia |
AMY003 |
|
Amyotrophy, Hereditary Neuralgic |
AMY086 |
HNA |
Amyotrophy, Monomelic |
AMY098 |
|
Anaerobic Meningitis |
ANR005 |
|
Anaerobic Pneumonia |
ANR006 |
|
Anal Atresia, Hypospadias, and Penoscrotal Inversion |
ANL024 |
|
Anal Buschke-Lowenstein Tumor |
ANL003 |
|
Anal Canal Adenocarcinoma |
ANL014 |
|
Anal Canal Carcinoma |
ANL011 |
|
Anal Canal Paget's Disease |
ANL009 |
|
Anal Canal Squamous Cell Carcinoma |
ANL004 |
|
Anal Carcinoma in Situ |
ANL008 |
|
Anal Colloid Adenocarcinoma |
ANL001 |
|
Anal Fistula |
ANL022 |
|
Anal Gland Adenocarcinoma |
ANL012 |
|
Anal Gland Neoplasm |
ANL002 |
|
Anal Margin Basal Cell Carcinoma |
ANL013 |
|
Anal Margin Carcinoma |
ANL016 |
|
Anal Margin Squamous Cell Carcinoma |
ANL007 |
|
Anal Neuroendocrine Tumor |
ANL010 |
|
Anal Paget's Disease |
ANL006 |
|
Anal Spasm |
ANL005 |
|
Anal Sphincter Dysplasia |
ANL019 |
ASDP |
Anal Sphincter Myopathy, Internal |
ANL025 |
|
Anal Squamous Cell Carcinoma |
ANL017 |
|
Analbuminemia |
ANL018 |
ANALBA |
Anaplastic Astrocytoma |
ANP005 |
|
Anaplastic Ependymoma |
ANP006 |
|
Anaplastic Ganglioglioma |
ANP007 |
|
Anaplastic Large Cell Lymphoma |
ANP001 |
ALCL |
Anaplastic Oligoastrocytoma |
ANP008 |
AMOA |
Anaplastic Oligodendroglioma |
ANP009 |
|
Anaplastic Plasmacytoma |
ANP010 |
|
Anaplastic Pleomorphic Xanthoastrocytoma |
ANP032 |
|
Anaplastic Small Cell Lymphoma |
ANP011 |
|
Anaplastic/large Cell Medulloblastoma |
ANP028 |
|
Anatomical Narrow Angle Borderline Glaucoma |
ANT015 |
|
Anauxetic Dysplasia 1 |
ANX007 |
ANXD1 |
Anauxetic Dysplasia 2 |
ANX008 |
ANXD2 |
Anauxetic Dysplasia 3 |
ANX011 |
ANXD3 |
Anca-Associated Vasculitis |
ANC002 |
AAV |
Ancylostomiasis |
ANC001 |
|
Andersen Cardiodysrhythmic Periodic Paralysis |
AND019 |
LQT7 |
Androgen Insensitivity Syndrome |
AND002 |
AIS |
Androgen Insensitivity Syndrome, Mild |
AND005 |
MAIS |
Androgen Insensitivity, Partial |
AND020 |
PAIS |
Androgenic Alopecia |
AND014 |
|
Androstenone, Ability to Smell |
AND018 |
|
Anemia of Prematurity |
ANM001 |
|
Anemia, Autoimmune Hemolytic |
ANM038 |
AHA |
Anemia, Congenital Dyserythropoietic, Type Ia |
ANM043 |
CDAN1A |
Anemia, Congenital Dyserythropoietic, Type Ib |
ANM049 |
CDAN1B |
Anemia, Congenital Dyserythropoietic, Type Ii |
ANM042 |
CDAN2 |
Anemia, Congenital Dyserythropoietic, Type Iii |
ANM037 |
CDAN3 |
Anemia, Congenital Dyserythropoietic, Type Iv |
ANM048 |
CDAN4 |
Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies/mental Retardation Syndrome |
ANM047 |
|
Anemia, Hypochromic Microcytic, with Iron Overload 1 |
ANM035 |
AHMIO1 |
Anemia, Hypochromic Microcytic, with Iron Overload 2 |
ANM027 |
AHMIO2 |
Anemia, Nonspherocytic Hemolytic, Associated with Abnormality of Red Cell Membrane |
ANM040 |
|
Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency |
ANM045 |
NSHA |
Anemia, Nonspherocytic Hemolytic, Possibly Due to Defect in Porphyrin Metabolism |
ANM041 |
|
Anemia, Sideroblastic, 1 |
ANM036 |
SIDBA1 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
ANM033 |
SIDBA2 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
ANM032 |
SIDBA3 |
Anemia, Sideroblastic, 4 |
ANM034 |
SIDBA4 |
Anemia, Sideroblastic, and Spinocerebellar Ataxia |
ANM046 |
ASAT |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
ANM039 |
|
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
ANM044 |
XLANP |
Anencephaly |
ANN002 |
ANPH |
Anencephaly and Spina Bifida X-Linked |
ANN003 |
|
Aneruptive Fever |
ANR001 |
|
Aneurysm |
ANR040 |
|
Aneurysm of Interventricular Septum |
ANR045 |
|
Aneurysm of Sinus of Valsalva |
ANR010 |
SVA |
Aneurysm, Intracranial Berry, 1 |
ANR027 |
ANIB1 |
Aneurysm, Intracranial Berry, 10 |
ANR025 |
ANIB10 |
Aneurysm, Intracranial Berry, 11 |
ANR039 |
ANIB11 |
Aneurysm, Intracranial Berry, 12 |
ANR050 |
ANIB12 |
Aneurysm, Intracranial Berry, 2 |
ANR011 |
ANIB2 |
Aneurysm, Intracranial Berry, 3 |
ANR028 |
ANIB3 |
Aneurysm, Intracranial Berry, 4 |
ANR022 |
ANIB4 |
Aneurysm, Intracranial Berry, 5 |
ANR026 |
ANIB5 |
Aneurysm, Intracranial Berry, 6 |
ANR029 |
ANIB6 |
Aneurysm, Intracranial Berry, 7 |
ANR023 |
ANIB7 |
Aneurysm, Intracranial Berry, 8 |
ANR030 |
ANIB8 |
Aneurysm, Intracranial Berry, 9 |
ANR024 |
ANIB9 |
Aneurysmal Bone Cysts |
ANR009 |
|
Angelman Syndrome |
ANG001 |
AS |
Angelman Syndrome Due to a Point Mutation |
ANG058 |
|
Angelman Syndrome Due to Imprinting Defect in 15q11-Q13 |
ANG059 |
|
Angelman Syndrome Due to Maternal 15q11q13 Deletion |
ANG053 |
|
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 |
ANG052 |
|
Angel-Shaped Phalangoepiphyseal Dysplasia |
ANG066 |
ASPED |
Angelucci's Syndrome |
ANG003 |
|
Angina Pectoris |
ANG054 |
|
Angiocentric Glioma |
ANG050 |
|
Angiodysplasia |
ANG011 |
|
Angiodysplasia of Intestine |
ANG012 |
|
Angioedema |
ANG015 |
|
Angioedema Induced by Ace Inhibitors |
ANG049 |
AEACEI |
Angioedema, Hereditary, Type I |
ANG068 |
HAE1 |
Angioedema, Hereditary, Type Iii |
ANG045 |
HAE3 |
Angioid Streaks |
ANG004 |
|
Angioid Streaks of Choroid |
ANG008 |
|
Angioimmunoblastic Lymphadenopathy with Dysproteinemia |
ANG025 |
|
Angioimmunoblastic T-Cell Lymphoma |
ANG046 |
AILT |
Angiokeratoma |
ANG016 |
|
Angiokeratoma Circumscriptum |
ANG007 |
|
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas |
ANG035 |
|
Angiokeratoma of Fordyce |
ANG014 |
|
Angiokeratoma of Mibelli |
ANG006 |
|
Angiolipoma |
ANG017 |
|
Angiolipomatosis, Familial |
ANG063 |
|
Angioma Serpiginosum |
ANG013 |
|
Angioma Serpiginosum, Autosomal Dominant |
ANG028 |
|
Angioma Serpiginosum, X-Linked |
ANG029 |
|
Angioma, Hereditary Neurocutaneous |
ANG067 |
|
Angioma, Tufted |
ANG065 |
|
Angiomatosis |
ANG037 |
|
Angiomatosis, Diffuse Corticomeningeal, of Divry and Van Bogaert |
ANG030 |
|
Angiomatous Meningioma |
ANG009 |
|
Angiomyolipoma |
ANG018 |
|
Angiomyoma |
ANG019 |
|
Angiomyomatous Hamartoma |
ANG033 |
|
Angioosteohypertrophic Syndrome |
ANG062 |
|
Angioosteohypotrophic Syndrome |
ANG057 |
|
Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps |
ANG060 |
HANAC |
Angiosarcoma |
ANG020 |
|
Angiosarcoma of the Scalp |
ANG034 |
|
Angiostrongyliasis |
ANG002 |
|
Angora Hair Nevus |
ANG056 |
|
Angpt1-Related Hereditary Angioedema with Normal C1inh |
ANG069 |
|
Angular Blepharoconjunctivitis |
ANG010 |
|
Angular Cheilitis |
ANG061 |
|
Anhaptoglobinemia |
ANH003 |
AHP |
Anhidrosis |
ANH002 |
|
Anhidrosis, Familial Generalized, with Abnormal or Absent Sweat Glands |
ANH005 |
|
Anhidrosis, Isolated, with Normal Sweat Glands |
ANH004 |
ANHD |
Animal Phobia |
ANM002 |
|
Aniridia - Ptosis - Intellectual Disability - Familial Obesity |
ANR042 |
|
Aniridia 1 |
ANR048 |
AN1 |
Aniridia 2 |
ANR047 |
AN2 |
Aniridia 3 |
ANR046 |
AN3 |
Aniridia and Absent Patella |
ANR043 |
|
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract |
ANR049 |
|
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation |
ANR044 |
|
Aniridia-Intellectual Disability Syndrome |
ANR041 |
|
Anisakiasis |
ANS003 |
|
Aniseikonia |
ANS002 |
|
Anismus |
ANS018 |
|
Anisocoria |
ANS021 |
|
Anisomastia |
ANS015 |
|
Anisometropia |
ANS004 |
|
Ankrd26-Related Thrombocytopenia |
ANK019 |
THC2 |
Ankyloblepharon Filiforme Adnatum and Cleft Palate |
ANK013 |
AFA |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
ANK018 |
|
Ankyloblepharon Filiforme Imperforate Anus |
ANK005 |
|
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate |
ANK017 |
AEC |
Ankyloglossia with or Without Tooth Anomalies |
ANK020 |
ANKG |
Ankylosing Spondylitis 1 |
ANK021 |
|
Ankylosing Spondylitis 2 |
ANK022 |
|
Ankylosing Spondylitis 3 |
ANK023 |
|
Ankylosing Vertebral Hyperostosis with Tylosis |
ANK015 |
|
Ankylosis |
ANK001 |
|
Annular Atrophic Lichen Planus |
ANN013 |
|
Annular Constricting Bands |
ANN004 |
|
Annular Erythema |
ANN011 |
|
Annular Lichen Planus |
ANN014 |
|
Ano5 Muscle Disease |
AN5002 |
|
Anodontia |
AND001 |
|
Anodontia of Permanent Dentition |
AND017 |
|
Anogenital Venereal Wart |
ANG005 |
|
Anomalous Aortic Origin of Coronary Artery |
ANM075 |
AAOCA |
Anomalous Aortic Origin of the Left Coronary Artery |
ANM077 |
AOLCA |
Anomalous Aortic Origin of the Right Coronary Artery |
ANM076 |
AORCA |
Anomalous Left Coronary Artery from the Pulmonary Artery |
ANM031 |
|
Anomalous Origin of Coronary Artery from the Pulmonary Artery |
ANM074 |
ACAPA |
Anomaly of Chromosome 1 |
ANM069 |
|
Anomaly of Chromosome 10 |
ANM056 |
|
Anomaly of Chromosome 11 |
ANM055 |
|
Anomaly of Chromosome 12 |
ANM061 |
|
Anomaly of Chromosome 13 |
ANM060 |
|
Anomaly of Chromosome 14 |
ANM059 |
|
Anomaly of Chromosome 15 |
ANM058 |
|
Anomaly of Chromosome 16 |
ANM065 |
|
Anomaly of Chromosome 17 |
ANM064 |
|
Anomaly of Chromosome 18 |
ANM063 |
|
Anomaly of Chromosome 19 |
ANM062 |
|
Anomaly of Chromosome 2 |
ANM070 |
|
Anomaly of Chromosome 20 |
ANM067 |
|
Anomaly of Chromosome 21 |
ANM068 |
|
Anomaly of Chromosome 22 |
ANM066 |
|
Anomaly of Chromosome 3 |
ANM071 |
|
Anomaly of Chromosome 4 |
ANM072 |
|
Anomaly of Chromosome 5 |
ANM054 |
|
Anomaly of Chromosome 6 |
ANM053 |
|
Anomaly of Chromosome 7 |
ANM052 |
|
Anomaly of Chromosome 8 |
ANM051 |
|
Anomaly of Chromosome 9 |
ANM057 |
|
Anomaly of Puberty or/and Menstrual Cycle |
ANM050 |
|
Anomaly of Puberty or/and Menstrual Cycle of Genetic Origin |
ANM073 |
|
Anomaly of the Coronary Ostia |
ANM078 |
|
Anomaly of the Mitral Subvalvular Apparatus |
ANM025 |
|
Anomaly of the Tricuspid Subvalvular Apparatus |
ANM023 |
|
Anonychia with Flexural Pigmentation |
ANN015 |
|
Anonychia, Total, with Microcephaly |
ANN018 |
|
Anonychia-Ectrodactyly |
ANN019 |
|
Anonychia-Onychodystrophy with Brachydactyly Type B and Ectrodactyly |
ANN009 |
|
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges |
ANN010 |
ODP |
Anophthalmia Cleft Palate Micrognathia |
ANP013 |
|
Anophthalmia Esophageal Atresia Cryptorchidism |
ANP014 |
|
Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies |
ANP015 |
|
Anophthalmos with Limb Anomalies |
ANP019 |
|
Anorchia |
ANR018 |
|
Anorectal Anomalies |
ANR033 |
|
Anorectal Stricture |
ANR003 |
|
Anorexia Nervosa |
ANR007 |
ANON |
Anosmia for Butyl Mercaptan |
ANS024 |
|
Anosmia for Isobutyric Acid |
ANS022 |
|
Anosmia, Isolated Congenital |
ANS017 |
ANIC |
Anosognosia |
ANS006 |
|
Anotia Facial Palsy Cardiac Defect |
ANT029 |
|
Anovulation |
ANV001 |
|
Anoxia |
ANX004 |
|
Antenatal Bartter Syndrome |
ANT061 |
|
Antenatal Multiminicore Disease with Arthrogryposis Multiplex Congenita |
ANT052 |
|
Anterior Cerebral Artery Infarction |
ANT004 |
|
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis |
ANT065 |
|
Anterior Compartment Syndrome |
ANT010 |
|
Anterior Corneal Pigmentation |
ANT008 |
|
Anterior Cranial Fossa Meningioma |
ANT022 |
|
Anterior Cutaneous Nerve Entrapment Syndrome |
ANT066 |
ACNES |
Anterior Dislocation of Lens |
ANT012 |
|
Anterior Foramen Magnum Meningioma |
ANT021 |
|
Anterior Horn Cell Disease |
ANT007 |
|
Anterior Optic Tract Meningioma |
ANT020 |
|
Anterior Scleritis |
ANT023 |
|
Anterior Segment Developmental Abnormality with Extraocular Manifestations |
ANT090 |
|
Anterior Segment Developmental Anomaly of Genetic Origin |
ANT091 |
|
Anterior Segment Developmental Anomaly Without Extraocular Manifestations |
ANT094 |
|
Anterior Segment Dysgenesis |
ANT088 |
ASMD |
Anterior Segment Dysgenesis 1 |
ANT077 |
ASGD1 |
Anterior Segment Dysgenesis 2 |
ANT086 |
ASGD2 |
Anterior Segment Dysgenesis 3 |
ANT084 |
ASGD3 |
Anterior Segment Dysgenesis 4 |
ANT071 |
ASGD4 |
Anterior Segment Dysgenesis 5 |
ANT085 |
ASGD5 |
Anterior Segment Dysgenesis 6 |
ANT087 |
ASGD6 |
Anterior Segment Dysgenesis 7 |
ANT083 |
ASGD7 |
Anterior Segment Dysgenesis 8 |
ANT067 |
ASGD8 |
Anterior Spinal Artery Stroke |
ANT033 |
|
Anterior Spinal Artery Syndrome |
ANT013 |
|
Anterior Urethra Cancer |
ANT014 |
|
Anterior Urethral Valve |
ANT062 |
|
Anterograde Amnesia |
ANT019 |
|
Anterolateral Myocardial Infarction |
ANT001 |
|
Anteroseptal Myocardial Infarction |
ANT005 |
|
Anthracosilicosis |
ANT017 |
|
Anthracosis |
ANT018 |
|
Anthrax Disease |
ANT024 |
|
Anti-Basement Membrane Glomerulonephritis |
ANT002 |
|
Antidepressant Type Abuse |
ANT016 |
|
Antigen Defined by Monoclonal Antibody Aj9 |
ANT080 |
MSK1 |
Antigen Defined by Monoclonal Antibody T87 |
ANT081 |
MSK2 |
Antigen Identified by Monoclonal Antibody 30.2a8 |
ANT096 |
MIC12 |
Antigen Msk41 Identified by Monoclonal Antibody E3 |
ANT095 |
MSK41 |
Antigen-Peptide-Transporter 2 Deficiency |
ANT035 |
|
Anti-Hla Hyperimmunization |
ANT036 |
|
Anti-P200 Pemphigoid |
ANT063 |
|
Antiphospholipid Syndrome |
ANT006 |
APS |
Antiphospholipid Syndrome, Familial |
ANT041 |
|
Anti-Pit-1 Antibody Syndrome |
ANT089 |
|
Antipyrine Metabolism |
ANT078 |
|
Antisocial Personality Disorder |
ANT011 |
|
Antisynthetase Syndrome |
ANT039 |
|
Antithrombin Iii Deficiency |
ANT009 |
AT3D |
Antithrombin, Familial Hemorrhagic Diathesis Due to |
ANT082 |
|
Antiviral State Repressor, Regulator of |
ANT079 |
AVRR |
Antley-Bixler Syndrome |
ANT003 |
|
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis |
ANT042 |
ABS1 |
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis |
ANT057 |
ABS2 |
Anton's Syndrome |
ANT040 |
|
Anuria |
ANR004 |
|
Anus Adenocarcinoma |
ANS010 |
|
Anus Basaloid Carcinoma |
ANS001 |
|
Anus Benign Neoplasm |
ANS025 |
|
Anus Cancer |
ANS011 |
|
Anus Disease |
ANS012 |
|
Anus Leiomyoma |
ANS005 |
|
Anus Leiomyosarcoma |
ANS009 |
|
Anus Lymphoma |
ANS007 |
|
Anus Rhabdomyosarcoma |
ANS008 |
|
Anus Sarcoma |
ANS014 |
|
Anus, Imperforate |
ANS023 |
|
Anxiety |
ANX010 |
|
Aorta Angiosarcoma |
ART003 |
|
Aorta Atresia |
ART007 |
|
Aorta-Pulmonary Artery Fistula |
ART027 |
|
Aortic Aneurysm |
ART016 |
|
Aortic Aneurysm, Familial Abdominal, 1 |
ART138 |
AAA1 |
Aortic Aneurysm, Familial Abdominal, 2 |
ART151 |
AAA2 |
Aortic Aneurysm, Familial Abdominal, 3 |
ART152 |
AAA3 |
Aortic Aneurysm, Familial Abdominal, 4 |
ART108 |
AAA4 |
Aortic Aneurysm, Familial Thoracic 1 |
ART067 |
AAT1 |
Aortic Aneurysm, Familial Thoracic 10 |
ART134 |
AAT10 |
Aortic Aneurysm, Familial Thoracic 11 |
ART133 |
AAT11 |
Aortic Aneurysm, Familial Thoracic 2 |
ART068 |
AAT2 |
Aortic Aneurysm, Familial Thoracic 4 |
ART028 |
AAT4 |
Aortic Aneurysm, Familial Thoracic 6 |
ART071 |
AAT6 |
Aortic Aneurysm, Familial Thoracic 7 |
ART105 |
AAT7 |
Aortic Aneurysm, Familial Thoracic 8 |
ART107 |
AAT8 |
Aortic Aneurysm, Familial Thoracic 9 |
ART118 |
AAT9 |
Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability |
ART113 |
|
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation |
ART029 |
|
Aortic Arch Interruption |
ART030 |
|
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma |
ART139 |
|
Aortic Atherosclerosis |
ART004 |
|
Aortic Disease |
ART017 |
|
Aortic Dissection |
ART074 |
|
Aortic Dissection Lentiginosis |
ART032 |
|
Aortic Malformation |
ART161 |
|
Aortic Malignant Tumor |
ART013 |
|
Aortic Valve Disease 1 |
ART115 |
AOVD1 |
Aortic Valve Disease 2 |
ART101 |
AOVD2 |
Aortic Valve Disease 3 |
ART159 |
AOVD3 |
Aortic Valve Insufficiency |
ART018 |
|
Aortic Valve Prolapse |
ART015 |
|
Aortic Valves Stenosis of the Child |
ART033 |
|
Aortitis |
ART012 |
|
Aorto-Left Ventricular Tunnel |
ART097 |
|
Aortopulmonary Window |
ART034 |
|
Aorto-Right Ventricular Tunnel |
ART098 |
|
Aorto-Ventricular Tunnel |
ART091 |
|
Ap-4-Associated Hereditary Spastic Paraplegia |
AP4001 |
|
Apc-Associated Polyposis Conditions |
APC006 |
|
Apert Syndrome |
APR006 |
APRS |
Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal Iv |
APH014 |
|
Aphalangy with Hemivertebrae |
APH015 |
|
Aphasia |
APH002 |
|
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
APH013 |
|
Aphthous Stomatitis |
APH001 |
|
Apical Myocardial Infarction |
APC001 |
|
Aplasia Cutis Congenita of Limbs Recessive |
APL009 |
|
Aplasia Cutis Congenita of Limbs, Autosomal Recessive |
APL027 |
|
Aplasia Cutis Congenita with Intestinal Lymphangiectasia |
APL026 |
|
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction |
APL028 |
|
Aplasia Cutis Congenita, Nonsyndromic |
APL023 |
ACC |
Aplasia Cutis Myopia |
APL011 |
|
Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy |
APL029 |
|
Aplasia of Lacrimal and Salivary Glands |
APL002 |
ALSG |
Aplastic Anemia |
APL001 |
AA |
Apnea of Prematurity |
APN006 |
|
Apnea, Central Sleep |
APN007 |
|
Apnea, Obstructive Sleep |
APN008 |
OSA |
Apo a-I Deficiency |
APD001 |
|
Apocrine Adenocarcinoma |
APC004 |
|
Apocrine Adenoma |
APC003 |
|
Apocrine Adenosis of Breast |
APC002 |
|
Apocrine Gland Secretion, Variation in |
APC009 |
WW |
Apocrine Sweat Gland Neoplasm |
APC005 |
|
Apodia |
APD003 |
|
Apolipoprotein C-Ii Deficiency |
APL017 |
HLPP1B |
Apolipoprotein C-Iii Deficiency |
APL024 |
HALP2 |
Apparent Mineralocorticoid Excess |
APP015 |
AME |
Appendiceal L-Cell Glucagon-Like Peptide Producing Tumor |
APP007 |
|
Appendiceal Neoplasm |
APP003 |
|
Appendicitis |
APP008 |
|
Appendicitis, Proneness to |
APP017 |
|
Appendix Adenocarcinoma |
APP009 |
|
Appendix Cancer |
APP010 |
|
Appendix Carcinoid Tumor |
APP013 |
|
Appendix Disease |
APP018 |
|
Appendix Leiomyoma |
APP005 |
|
Appendix Lymphoma |
APP002 |
|
Appendix Mucinous Cystadenocarcinoma |
APP004 |
|
Apperceptive Agnosia |
APP006 |
|
Apple Allergy |
APP016 |
|
Apraxia |
APR001 |
|
Apraxia of Eyelid Opening |
APR010 |
|
Apricot Allergy |
APR007 |
|
Aprosencephaly and Cerebellar Dysgenesis |
APR008 |
|
Aprosencephaly Syndrome |
APR009 |
|
Aprosencephaly/atelencephaly Spectrum |
APR011 |
|
Aquagenic Pruritus |
AQG001 |
|
Aquagenic Syringeal Acrokeratoderma |
AQG004 |
|
Aqueous Misdirection |
AQS001 |
|
Arachnodactyly - Intellectual Disability - Dysmorphism |
ARC019 |
|
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
ARC020 |
|
Arachnoid Cysts, Intracranial |
ARC025 |
|
Arachnoiditis |
ARC002 |
|
Arbitrary Restriction Polymorphism 1 |
ARB004 |
ARP1 |
Arboleda-Tham Syndrome |
ARB005 |
ARTHS |
Arbovirosis |
ARB003 |
|
Arcus Corneae |
ARC023 |
|
Aredyld |
ARD001 |
|
Aregenerative Anemia |
ARG006 |
|
Arena Syndrome |
ARN001 |
|
Arenaviridae Infectious Disease |
ARN005 |
|
Argentine Hemorrhagic Fever |
ARG001 |
|
Argininemia |
ARG007 |
ARGIN |
Argininosuccinic Aciduria |
ARG002 |
ARGINSA |
Argyll Robertson Pupil |
ARG003 |
|
Argyria |
ARG004 |
|
Arid1b-Related Disorder |
ARD005 |
|
Arima Syndrome |
ARM010 |
BJ |
Arm Folding Preference |
ARM007 |
|
Armfield Syndrome |
ARM005 |
MRXSA |
Arms, Malformation of |
ARM008 |
|
Arnold Stickler Bourne Syndrome |
ARN002 |
|
Aromatase Deficiency |
ARM001 |
AROD |
Aromatase Excess Syndrome |
ARM004 |
AEXS |
Aromatic L-Amino Acid Decarboxylase Deficiency |
ARM002 |
AADCD |
Arrhinia |
ARR002 |
|
Arrhythmogenic Right Ventricular Cardiomyopathy |
ARR042 |
ARVC |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
ARR045 |
ARVD1 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
ARR028 |
ARVD10 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
ARR027 |
ARVD11 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
ARR024 |
ARVD12 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
ARR041 |
ARVD13 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
ARR051 |
ARVD14 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
ARR046 |
ARVD2 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
ARR047 |
ARVD3 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
ARR048 |
ARVD4 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
ARR018 |
ARVD5 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
ARR049 |
ARVD6 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
ARR050 |
ARVD8 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
ARR023 |
ARVD9 |
Arroyo Garcia Cimadevilla Syndrome |
ARR003 |
|
Arterial Calcification of Infancy |
ART035 |
GACI |
Arterial Calcification, Generalized, of Infancy, 1 |
ART106 |
GACI1 |
Arterial Calcification, Generalized, of Infancy, 2 |
ART102 |
GACI2 |
Arterial Dissection with Lentiginosis |
ART129 |
|
Arterial Duct Anomaly |
ART160 |
|
Arterial Thoracic Outlet Syndrome |
ART109 |
ATOS |
Arterial Tortuosity Syndrome |
ART001 |
ATORS |
Arteries, Anomalies of |
ART140 |
|
Arteriolosclerosis |
ART010 |
|
Arteriosclerosis |
ART021 |
|
Arteriosclerosis Obliterans |
ART008 |
|
Arteriosclerosis, Severe Juvenile |
ART148 |
|
Arteriovenous Malformation |
ART005 |
|
Arteriovenous Malformations of the Brain |
ART141 |
BAVM |
Arteritic Anterior Ischemic Optic Neuropathy |
ART110 |
|
Arteritis, Familial Granulomatous, with Juvenile Polyarthritis |
ART142 |
|
Arthritis |
ART022 |
|
Arthritis, Sacroiliac |
ART143 |
|
Arthrochalasia Ehlers-Danlos Syndrome |
ART153 |
AEDS |
Arthrogryposis and Ectodermal Dysplasia |
ART037 |
|
Arthrogryposis Epileptic Seizures Migrational Brain Disorder |
ART040 |
|
Arthrogryposis Iugr Thoracic Dystrophy |
ART041 |
|
Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect |
ART164 |
AMC1 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
ART163 |
AMC2 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
ART165 |
AMC3 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum |
ART166 |
AMC4 |
Arthrogryposis Multiplex Congenita 5 |
ART167 |
AMC5 |
Arthrogryposis Multiplex Congenita Cns Calcification |
ART043 |
|
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death |
ART051 |
|
Arthrogryposis with Hyperkeratosis |
ART130 |
|
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development |
ART154 |
ACCIID |
Arthrogryposis, Congenital, Lower Limb, X-Linked |
ART150 |
ACLLX |
Arthrogryposis, Distal, Type 10 |
ART112 |
DA10 |
Arthrogryposis, Distal, Type 1a |
ART144 |
DA1A |
Arthrogryposis, Distal, Type 1b |
ART060 |
DA1B |
Arthrogryposis, Distal, Type 1c |
ART168 |
DA1C |
Arthrogryposis, Distal, Type 2a |
ART061 |
DA2A |
Arthrogryposis, Distal, Type 2b1 |
ART155 |
DA2B1 |
Arthrogryposis, Distal, Type 2b2 |
ART156 |
DA2B2 |
Arthrogryposis, Distal, Type 2b3 |
ART157 |
DA2B3 |
Arthrogryposis, Distal, Type 2e |
ART054 |
|
Arthrogryposis, Distal, Type 3 |
ART120 |
DA3 |
Arthrogryposis, Distal, Type 4 |
ART131 |
DA4 |
Arthrogryposis, Distal, Type 5 |
ART119 |
DA5 |
Arthrogryposis, Distal, Type 5d |
ART104 |
DA5D |
Arthrogryposis, Distal, Type 6 |
ART128 |
DA6 |
Arthrogryposis, Distal, Type 7 |
ART147 |
DA7 |
Arthrogryposis, Distal, with Impaired Proprioception and Touch |
ART136 |
DAIPT |
Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies |
ART149 |
|
Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay |
ART056 |
|
Arthrogryposis, Mental Retardation, and Seizures |
ART103 |
AMRS |
Arthrogryposis, Perthes Disease, and Upward Gaze Palsy |
ART135 |
APUG |
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 |
ART062 |
ARCS1 |
Arthrogryposis, Renal Dysfunction, and Cholestasis 2 |
ART063 |
ARCS2 |
Arthropathy |
ART023 |
|
Arthropathy, Erosive |
ART077 |
|
Arthus Reaction |
ART006 |
|
Artichoke, Modification of Taste by |
ART145 |
|
Articulation Disorder |
ART014 |
|
Arts Syndrome |
ART002 |
ARTS |
Arx-Related Encephalopathy-Brain Malformation Spectrum |
ARX004 |
|
Arx-Related Epileptic Encephalopathy |
ARX003 |
|
Aryepiglottic Fold Cancer |
ARY001 |
|
Aryl Hydrocarbon Hydroxylase Inducibility |
ARY002 |
AHHI |
Asah1-Related Disorders |
ASH005 |
|
Asbestos Intoxication |
ASB003 |
|
Asbestosis |
ASB001 |
|
Asbestos-Related Lung Carcinoma |
ASB002 |
|
Ascaridiasis |
ASC001 |
|
Ascaris Lumbricoides Infection |
ASC010 |
|
Ascending Aorta Anomaly |
ASC011 |
|
Ascending Cholangitis |
ASC003 |
|
Ascending Colon Cancer |
ASC004 |
|
Ascites, Chylous |
ASC009 |
|
Aseptic Meningitis |
ASP003 |
|
Asherman's Syndrome |
ASH001 |
|
Askin's Tumor |
ASK001 |
|
Asparagine Synthetase Deficiency |
ASP024 |
ASNSD |
Asparagus, Specific Smell Hypersensitivity |
ASP027 |
|
Aspartate Aminotransferase, Serum Level of, Quantitative Trait Locus 1 |
ASP035 |
|
Aspartylglucosaminuria |
ASP002 |
AGU |
Asperger Syndrome |
ASP001 |
|
Asperger Syndrome 1 |
ASP032 |
ASPG1 |
Asperger Syndrome 2 |
ASP031 |
ASPG2 |
Asperger Syndrome 3 |
ASP033 |
ASPG3 |
Asperger Syndrome 4 |
ASP034 |
ASPG4 |
Asperger Syndrome, X-Linked 1 |
ASP028 |
ASPGX1 |
Asperger Syndrome, X-Linked 2 |
ASP029 |
ASPGX2 |
Aspergillosis |
ASP006 |
|
Aspergillus Niger Infection |
ASP009 |
|
Asphyxia Neonatorum |
ASP004 |
|
Asphyxiating Thoracic Dystrophy |
ASP005 |
ATD |
Aspiration Pneumonia |
ASP007 |
|
Aspiration Pneumonitis |
ASP008 |
|
Aspirin Allergy |
ASP036 |
|
Aspirin Resistance |
ASP030 |
|
Aspirin-Induced Respiratory Disease |
ASP038 |
|
Asplenia, Isolated Congenital |
ASP026 |
ICAS |
Aspm Primary Microcephaly |
ASP037 |
|
Asrar Facharzt Haque Syndrome |
ASR001 |
|
Associative Agnosia |
ASS001 |
|
Astereognosia |
AST004 |
|
Asternia |
AST008 |
|
Asthma |
AST005 |
ASTHMA |
Asthma, Nasal Polyps, and Aspirin Intolerance |
AST052 |
ANPAI |
Asthma, Short Stature, and Elevated Iga |
AST053 |
|
Asthma-Related Traits 1 |
AST055 |
ASRT1 |
Asthma-Related Traits 2 |
AST056 |
ASRT2 |
Asthma-Related Traits 3 |
AST033 |
ASRT3 |
Asthma-Related Traits 4 |
AST034 |
ASRT4 |
Asthma-Related Traits 5 |
AST057 |
ASRT5 |
Asthma-Related Traits 6 |
AST035 |
ASRT6 |
Asthma-Related Traits 7 |
AST032 |
ASRT7 |
Asthma-Related Traits 8 |
AST036 |
ASRT8 |
Astigmatism |
AST006 |
|
Astley-Kendall Syndrome |
AST010 |
|
Astrakhan Spotted Fever |
AST001 |
|
Astroblastoma |
AST002 |
|
Asxl3-Related Disorder |
ASX001 |
BRPS |
Asymmetric Motor Neuropathy |
ASY004 |
|
Asymmetric Short Stature Syndrome |
ASY006 |
|
Asymptomatic Dengue |
ASY001 |
|
Asymptomatic Neurosyphilis |
ASY002 |
|
Asynchronous Multifocal Osteogenic Sarcoma |
ASY003 |
|
Ataxia and Polyneuropathy, Adult-Onset |
ATX038 |
APAO |
Ataxia Neuropathy Spectrum |
ATX010 |
ANS |
Ataxia with Dementia |
ATX048 |
|
Ataxia with Fasciculations |
ATX042 |
|
Ataxia with Myoclonic Epilepsy and Presenile Dementia |
ATX043 |
|
Ataxia with Vitamin E Deficiency |
ATX019 |
AVED |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
ATX031 |
ACPHD |
Ataxia, Deafness, and Cardiomyopathy |
ATX044 |
|
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia |
ATX029 |
EAOH |
Ataxia, Sensory, 1, Autosomal Dominant |
ATX023 |
SNAX1 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation |
ATX047 |
|
Ataxia-Deafness-Retardation Syndrome |
ATX037 |
|
Ataxia-Microcephaly-Cataract Syndrome |
ATX045 |
|
Ataxia-Oculomotor Apraxia 3 |
ATX024 |
AOA3 |
Ataxia-Oculomotor Apraxia 4 |
ATX033 |
AOA4 |
Ataxia-Pancytopenia Syndrome |
ATX039 |
ATXPC |
Ataxia-Photosensitivity-Short Stature Syndrome |
ATX036 |
|
Ataxias and Cerebellar or Spinocerebellar Degeneration |
ATX012 |
|
Ataxia-Telangiectasia |
ATX030 |
AT |
Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death |
ATX046 |
|
Ataxia-Telangiectasia-Like Disorder 1 |
ATX040 |
ATLD1 |
Ataxia-Telangiectasia-Like Disorder 2 |
ATX041 |
ATLD2 |
Atelencephaly |
ATL016 |
|
Atelosteogenesis |
ATL001 |
|
Atelosteogenesis, Type I |
ATL011 |
AO1 |
Atelosteogenesis, Type Ii |
ATL015 |
AO2 |
Atelosteogenesis, Type Iii |
ATL012 |
AO3 |
Athabaskan Brainstem Dysgenesis Syndrome |
ATH001 |
ABDS |
Atheroembolism of Kidney |
ATH002 |
|
Atherosclerosis Susceptibility |
ATH013 |
ATHS |
Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease |
ATH012 |
|
Athetosis |
ATH004 |
|
Athrombia, Essential |
ATH014 |
|
Athyreosis |
ATH010 |
|
Atkin-Flaitz Syndrome |
ATK002 |
|
Atlantic Cod Allergy |
ATL013 |
|
Atlantic Salmon Allergy |
ATL014 |
|
Atlanto-Axial Fusion |
ATL006 |
|
Atonic-Astatic Syndrome of Foerster |
ATN015 |
|
Atopic Keratoconjunctivitis |
ATP013 |
|
Atp13a2-Related Parkinsonism |
ATP023 |
|
Atp1a3-Related Neurologic Disorders |
ATP015 |
|
Atp6v0a2-Related Cutis Laxa |
ATP003 |
|
Atp7a-Related Copper Transport Disorders |
ATP004 |
|
Atp8b1 Deficiency |
ATP014 |
|
Atransferrinemia |
ATR002 |
ATRAF |
Atresia of External Auditory Canal and Conductive Deafness |
ATR086 |
|
Atresia of Small Intestine |
ATR015 |
|
Atresia of Urethra |
ATR053 |
|
Atrial Appendage Anomaly |
ATR095 |
|
Atrial Fibrillation |
ATR011 |
A-FIB |
Atrial Fibrillation and Stroke |
ATR024 |
|
Atrial Fibrillation, Familial, 1 |
ATR026 |
ATFB1 |
Atrial Fibrillation, Familial, 10 |
ATR061 |
ATFB10 |
Atrial Fibrillation, Familial, 11 |
ATR059 |
ATFB11 |
Atrial Fibrillation, Familial, 12 |
ATR069 |
ATFB12 |
Atrial Fibrillation, Familial, 13 |
ATR072 |
ATFB13 |
Atrial Fibrillation, Familial, 14 |
ATR068 |
ATFB14 |
Atrial Fibrillation, Familial, 15 |
ATR092 |
ATFB15 |
Atrial Fibrillation, Familial, 18 |
ATR085 |
ATFB18 |
Atrial Fibrillation, Familial, 2 |
ATR025 |
ATFB2 |
Atrial Fibrillation, Familial, 3 |
ATR038 |
ATFB3 |
Atrial Fibrillation, Familial, 4 |
ATR039 |
ATFB4 |
Atrial Fibrillation, Familial, 5 |
ATR027 |
ATFB5 |
Atrial Fibrillation, Familial, 6 |
ATR035 |
ATFB6 |
Atrial Fibrillation, Familial, 7 |
ATR037 |
ATFB7 |
Atrial Fibrillation, Familial, 8 |
ATR028 |
ATFB8 |
Atrial Fibrillation, Familial, 9 |
ATR070 |
ATFB9 |
Atrial Heart Septal Defect |
ATR010 |
|
Atrial Heart Septal Defect 7 |
ATR093 |
|
Atrial Septal Aneurysm |
ATR055 |
|
Atrial Septal Defect 1 |
ATR062 |
ASD1 |
Atrial Septal Defect 2 |
ATR066 |
ASD2 |
Atrial Septal Defect 3 |
ATR022 |
ASD3 |
Atrial Septal Defect 4 |
ATR031 |
ASD4 |
Atrial Septal Defect 5 |
ATR023 |
ASD5 |
Atrial Septal Defect 6 |
ATR034 |
ASD6 |
Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects |
ATR088 |
ASD7 |
Atrial Septal Defect 8 |
ATR065 |
ASD8 |
Atrial Septal Defect 9 |
ATR056 |
ASD9 |
Atrial Septal Defect Coronary Sinus |
ATR017 |
|
Atrial Septal Defect Ostium Primum |
ATR018 |
|
Atrial Septal Defect Sinus Venosus |
ATR019 |
|
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects |
ATR091 |
|
Atrial Standstill |
ATR081 |
|
Atrial Standstill 1 |
ATR087 |
ATRST1 |
Atrial Standstill 2 |
ATR074 |
ATRST2 |
Atrial Tachyarrhythmia with Short Pr Interval |
ATR048 |
|
Atrichia with Papular Lesions |
ATR013 |
APL |
Atrioventricular Block |
ATR057 |
|
Atrioventricular Dissociation |
ATR089 |
|
Atrioventricular Septal Defect |
ATR001 |
AVSD |
Atrioventricular Septal Defect 2 |
ATR047 |
AVSD2 |
Atrioventricular Septal Defect 3 |
ATR064 |
AVSD3 |
Atrioventricular Septal Defect 4 |
ATR067 |
AVSD4 |
Atrioventricular Septal Defect 5 |
ATR071 |
AVSD5 |
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects |
ATR084 |
|
Atrioventricular Valve Anomaly |
ATR096 |
|
Atrophia Maculosa Varioliformis Cutis, Familial |
ATR090 |
AMVC |
Atrophic Flaccid Tympanic Membrane |
ATR006 |
|
Atrophic Gastritis |
ATR005 |
|
Atrophic Glossitis |
ATR073 |
|
Atrophic Lichen Planus |
ATR052 |
|
Atrophic Muscular Disease |
ATR076 |
|
Atrophic Nonflaccid Tympanic Membrane |
ATR004 |
|
Atrophic Rhinitis |
ATR003 |
OZENA |
Atrophic Vulva |
ATR007 |
|
Atrophoderma of Pasini and Pierini |
ATR097 |
|
Atrophoderma Vermiculata |
ATR054 |
AVA |
Atrophy of Prostate |
ATR008 |
|
Atrophy of Testis |
ATR009 |
|
Atr-X-Related Syndrome |
ATR094 |
|
Attached Cell Antigen 28.3.7 |
ATT024 |
MIC7 |
Attention Deficit-Hyperactivity Disorder |
ATT013 |
ADHD |
Attention Deficit-Hyperactivity Disorder 1 |
ATT019 |
ADHD1 |
Attention Deficit-Hyperactivity Disorder 2 |
ATT020 |
ADHD2 |
Attention Deficit-Hyperactivity Disorder 3 |
ATT021 |
ADHD3 |
Attention Deficit-Hyperactivity Disorder 4 |
ATT022 |
ADHD4 |
Attenuated Chediak-Higashi Syndrome |
ATT023 |
|
Attenuated Familial Adenomatous Polyposis |
ATT003 |
AAPC |
Atypical Autism |
ATY003 |
PDD |
Atypical Breast Papilloma |
ATY006 |
|
Atypical Choroid Plexus Papilloma |
ATY002 |
|
Atypical Chronic Myeloid Leukemia |
ATY042 |
ACML |
Atypical Coarctation of Aorta |
ATY022 |
|
Atypical Depressive Disorder |
ATY001 |
|
Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome |
ATY046 |
|
Atypical Follicular Adenoma |
ATY007 |
|
Atypical Glycine Encephalopathy |
ATY025 |
|
Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality |
ATY045 |
|
Atypical Juvenile Parkinsonism |
ATY034 |
|
Atypical Lichen Myxedematosus |
ATY027 |
|
Atypical Meigs Syndrome |
ATY026 |
|
Atypical Mycobacteriosis, Familial |
ATY012 |
MSMD |
Atypical Neurofibroma |
ATY004 |
|
Atypical Norrie Disease Due to Xp11.3 Microdeletion |
ATY043 |
|
Atypical Polypoid Adenomyoma |
ATY009 |
|
Atypical Teratoid Rhabdoid Tumor |
ATY005 |
RTPS |
Atypical Timothy Syndrome |
ATY052 |
ATS |
Atypical Werner Syndrome |
ATY016 |
|
Audiogenic Seizures |
ADG002 |
|
Auditory Agnosia |
ADT001 |
|
Auditory Neuropathy and Optic Atrophy |
ADT008 |
ANOA |
Auditory Neuropathy Spectrum Disorder |
ADT009 |
ANSD |
Auditory Neuropathy, Autosomal Dominant, 1 |
ADT007 |
AUNA1 |
Auditory System Benign Neoplasm |
ADT010 |
|
Auditory System Cancer |
ADT002 |
|
Auditory System Disease |
ADT003 |
|
Au-Kline Syndrome |
AKL001 |
AUKS |
Aural Atresia, Congenital |
ARL004 |
CAA |
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation |
ARL006 |
|
Auricular Abnormalities-Cleft Lip with or Without Cleft Palate-Ocular Abnormalities Syndrome |
ARC022 |
|
Auriculo-Condylar Syndrome |
ARC008 |
|
Auriculocondylar Syndrome 1 |
ARC016 |
ARCND1 |
Auriculocondylar Syndrome 2 |
ARC011 |
ARCND2 |
Auriculocondylar Syndrome 3 |
ARC017 |
ARCND3 |
Auriculoosteodysplasia |
ARC009 |
|
Aurocephalosyndactyly |
ARC024 |
|
Ausems Wittebol-Post Hennekam Syndrome |
ASM001 |
|
Australia Antigen |
AST054 |
|
Autism |
ATS364 |
|
Autism 10 |
ATS172 |
AUTS10 |
Autism 11 |
ATS373 |
AUTS11 |
Autism 12 |
ATS374 |
AUTS12 |
Autism 13 |
ATS375 |
AUTS13 |
Autism 15 |
ATS376 |
AUTS15 |
Autism 16 |
ATS377 |
AUTS16 |
Autism 17 |
ATS378 |
AUTS17 |
Autism 18 |
ATS173 |
AUTS18 |
Autism 19 |
ATS170 |
AUTS19 |
Autism 20 |
ATS474 |
AUTS20 |
Autism 3 |
ATS370 |
AUTS3 |
Autism 6 |
ATS371 |
AUTS6 |
Autism 7 |
ATS372 |
AUTS7 |
Autism 8 |
ATS369 |
AUTS8 |
Autism 9 |
ATS171 |
AUTS9 |
Autism Spectrum Disorder |
ATS007 |
ASD |
Autism with Port-Wine Stain |
ATS014 |
|
Autism X-Linked 1 |
ATS365 |
AUTSX1 |
Autism X-Linked 2 |
ATS366 |
AUTSX2 |
Autism X-Linked 3 |
ATS367 |
AUTSX3 |
Autism X-Linked 4 |
ATS268 |
AUTSX4 |
Autism X-Linked 5 |
ATS177 |
AUTSX5 |
Autism X-Linked 6 |
ATS358 |
AUTSX6 |
Autism-Facial Port-Wine Stain Syndrome |
ATS313 |
|
Autoimmune Addison Disease |
ATM078 |
|
Autoimmune Atherosclerosis |
ATM103 |
|
Autoimmune Atrophic Gastritis |
ATM060 |
|
Autoimmune Autonomic Ganglionopathy |
ATM074 |
|
Autoimmune Bullous Skin Disease |
ATM109 |
|
Autoimmune Cardiomyopathy |
ATM102 |
|
Autoimmune Cholangitis |
ATM113 |
|
Autoimmune Disease |
ATM095 |
|
Autoimmune Disease 1 |
ATM052 |
AIS1 |
Autoimmune Disease 2 |
ATM053 |
AIS2 |
Autoimmune Disease 3 |
ATM054 |
AIS3 |
Autoimmune Disease 4 |
ATM055 |
AIS4 |
Autoimmune Disease 6 |
ATM059 |
AIS6 |
Autoimmune Disease of Blood |
ATM012 |
|
Autoimmune Disease of Cardiovascular System |
ATM013 |
|
Autoimmune Disease of Central Nervous System |
ATM007 |
|
Autoimmune Disease of Endocrine System |
ATM014 |
|
Autoimmune Disease of Exocrine System |
ATM009 |
|
Autoimmune Disease of Eyes, Ear, Nose and Throat |
ATM008 |
|
Autoimmune Disease of Gastrointestinal Tract |
ATM015 |
|
Autoimmune Disease of Musculoskeletal System |
ATM005 |
|
Autoimmune Disease of Peripheral Nervous System |
ATM105 |
|
Autoimmune Disease of Skin and Connective Tissue |
ATM016 |
|
Autoimmune Disease of the Nervous System |
ATM017 |
|
Autoimmune Disease of Urogenital Tract |
ATM018 |
|
Autoimmune Disease with Skin Involvement |
ATM107 |
|
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
ATM094 |
ADMIO1 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
ATM093 |
ADMIO2 |
Autoimmune Disease, Multisystem, with Facial Dysmorphism |
ATM081 |
ADMFD |
Autoimmune Encephalitis |
ATM075 |
|
Autoimmune Encephalopathy with Parasomnia and Obstructive Sleep Apnea |
ATM088 |
|
Autoimmune Enteropathy |
ATM020 |
|
Autoimmune Gastritis |
ATM101 |
|
Autoimmune Gastrointestinal Dysmotility |
ATM077 |
AGID |
Autoimmune Glomerulonephritis |
ATM045 |
|
Autoimmune Hemolytic Anemia, Cold Type |
ATM106 |
CAHA |
Autoimmune Hemolytic Anemia, Warm Type |
ATM069 |
WAHA |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
ATM091 |
|
Autoimmune Hepatitis |
ATM011 |
AIH |
Autoimmune Hepatitis Type 1 |
ATM112 |
|
Autoimmune Hepatitis Type 2 |
ATM111 |
|
Autoimmune Hypoparathyroidism |
ATM068 |
|
Autoimmune Inner Ear Disease |
ATM021 |
AIED |
Autoimmune Interstitial Lung, Joint, and Kidney Disease |
ATM086 |
AILJK |
Autoimmune Lymphoproliferative Syndrome |
ATM006 |
ALPS |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
ATM097 |
ALPS2A |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
ATM083 |
ALPS3 |
Autoimmune Lymphoproliferative Syndrome, Type V |
ATM082 |
ALPS5 |
Autoimmune Myocarditis |
ATM022 |
|
Autoimmune Neurological Channelopathy |
ATM110 |
|
Autoimmune Neuropathy |
ATM089 |
|
Autoimmune Oophoritis |
ATM023 |
|
Autoimmune Optic Neuritis |
ATM100 |
|
Autoimmune Pancreatitis |
ATM024 |
AIP |
Autoimmune Pancreatitis Type 1 |
ATM064 |
|
Autoimmune Pancreatitis Type 2 |
ATM063 |
|
Autoimmune Peripheral Neuropathy |
ATM098 |
|
Autoimmune Polyendocrine Syndrome |
ATM019 |
APS |
Autoimmune Polyendocrine Syndrome Type 1 |
ATM002 |
|
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia |
ATM096 |
APS1 |
Autoimmune Polyendocrine Syndrome, Type Ii |
ATM092 |
APS2 |
Autoimmune Polyendocrinopathy Type 3 |
ATM067 |
APS3 |
Autoimmune Polyendocrinopathy Type 4 |
ATM066 |
APS4 |
Autoimmune Polyglandular Syndrome Type 3 |
ATM061 |
APS3 |
Autoimmune Retinopathy |
ATM076 |
|
Autoimmune Thyroid Disease 1 |
ATM056 |
AITD1 |
Autoimmune Thyroid Disease 2 |
ATM057 |
AITD2 |
Autoimmune Thyroid Disease 3 |
ATM050 |
AITD3 |
Autoimmune Thyroid Disease 4 |
ATM058 |
AITD4 |
Autoimmune Uveitis |
ATM099 |
|
Autoimmune Vasculitis |
ATM104 |
|
Autoimmune/inflammatory Optic Neuropathy |
ATM108 |
|
Autoinflammation with Arthritis and Dyskeratosis |
ATN014 |
AIADK |
Autoinflammation with Episodic Fever and Lymphadenopathy |
ATN023 |
AIEFL |
Autoinflammation with Infantile Enterocolitis |
ATN011 |
AIFEC |
Autoinflammation, Antibody Deficiency, and Immune Dysregulation |
ATN022 |
APLAID |
Autoinflammation, Immune Dysregulation, and Eosinophilia |
ATN024 |
AIIDE |
Autoinflammation, Panniculitis, and Dermatosis Syndrome |
ATN013 |
AIPDS |
Autoinflammatory Syndrome |
ATN021 |
|
Autoinflammatory Syndrome of Childhood |
ATN018 |
|
Autoinflammatory Syndrome with Immune Deficiency |
ATN020 |
|
Autoinflammatory Syndrome with Skin Involvement |
ATN019 |
|
Autoinflammatory Syndrome, Familial, Behcet-Like |
ATN012 |
AISBL |
Autonomic Dysfunction |
ATN005 |
|
Autonomic Nervous System Benign Neoplasm |
ATN017 |
|
Autonomic Nervous System Disease |
ATN002 |
|
Autonomic Nervous System Neoplasm |
ATN003 |
|
Autonomic Neuropathy |
ATN004 |
|
Autonomic Peripheral Neuropathy |
ATN001 |
|
Autosomal Anomaly |
ATS453 |
|
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
ATS424 |
SMAFK |
Autosomal Dominant Alport Syndrome |
ATS015 |
|
Autosomal Dominant Beta Thalassemia |
ATS481 |
|
Autosomal Dominant Cerebellar Ataxia |
ATS308 |
SCA |
Autosomal Dominant Cerebellar Ataxia Type I |
ATS461 |
ADCA1 |
Autosomal Dominant Cerebellar Ataxia Type Iii |
ATS462 |
ADCA3 |
Autosomal Dominant Cerebellar Ataxia Type Iv |
ATS463 |
ADCA4 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
ATS363 |
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation |
ATS092 |
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation |
ATS289 |
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons |
ATS241 |
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g |
ATS165 |
|
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
ATS237 |
|
Autosomal Dominant Coarctation of Aorta |
ATS065 |
|
Autosomal Dominant Complex Spastic Paraplegia |
ATS471 |
|
Autosomal Dominant Congenital Stationary Night Blindness |
ATS168 |
|
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
ATS254 |
DDOD |
Autosomal Dominant Diffuse Mutilating Palmoplantar Keratoderma |
ATS445 |
|
Autosomal Dominant Disease Associated with Focal Palmoplantar Keratoderma As a Major Feature |
ATS465 |
|
Autosomal Dominant Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature |
ATS447 |
|
Autosomal Dominant Disease with Diffuse Palmoplantar Keratoderma As a Major Feature |
ATS464 |
|
Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome |
ATS357 |
|
Autosomal Dominant Distal Hereditary Motor Neuronopathy |
ATS426 |
|
Autosomal Dominant Distal Myopathy |
ATS432 |
|
Autosomal Dominant Distal Renal Tubular Acidosis |
ATS493 |
|
Autosomal Dominant Epidermolytic Ichthyosis |
ATS411 |
EI |
Autosomal Dominant Epilepsy with Auditory Features |
ATS301 |
ADEAF |
Autosomal Dominant Hereditary Axonal Motor and Sensory Neuropathy |
ATS429 |
|
Autosomal Dominant Hereditary Demyelinating Motor and Sensory Neuropathy |
ATS427 |
|
Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy |
ATS271 |
|
Autosomal Dominant Intellectual Disability 30 |
ATS348 |
|
Autosomal Dominant Intellectual Disability 40 |
ATS403 |
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
ATS272 |
CMTDI |
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain |
ATS093 |
|
Autosomal Dominant Isolated Diffuse Palmoplantar Keratoderma |
ATS468 |
|
Autosomal Dominant Leukodystrophy with Autonomic Disease |
ATS309 |
ADLD |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
ATS330 |
|
Autosomal Dominant Macrothrombocytopenia |
ATS208 |
|
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency |
ATS434 |
|
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency |
ATS105 |
|
Autosomal Dominant Mental Retardation 55 |
ATS394 |
|
Autosomal Dominant Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques |
ATS482 |
|
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
ATS292 |
|
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
ATS011 |
ENFL |
Autosomal Dominant Nonsyndromic Deafness |
ATS005 |
|
Autosomal Dominant Nonsyndromic Deafness 34 |
ATS402 |
|
Autosomal Dominant Nonsyndromic Deafness 71 |
ATS399 |
|
Autosomal Dominant Nonsyndromic Deafness 72 |
ATS400 |
|
Autosomal Dominant Nonsyndromic Deafness 73 |
ATS401 |
|
Autosomal Dominant Nonsyndromic Deafness 74 |
ATS487 |
|
Autosomal Dominant Nonsyndromic Deafness 75 |
ATS488 |
|
Autosomal Dominant Nonsyndromic Deafness 76 |
ATS489 |
|
Autosomal Dominant Nonsyndromic Deafness 77 |
ATS490 |
|
Autosomal Dominant Nonsyndromic Deafness 78 |
ATS484 |
|
Autosomal Dominant Nonsyndromic Deafness 79 |
ATS485 |
|
Autosomal Dominant Non-Syndromic Intellectual Disability |
ATS203 |
|
Autosomal Dominant Non-Syndromic Intellectual Disability 1 |
ATS383 |
MRD1 |
Autosomal Dominant Non-Syndromic Intellectual Disability 18 |
ATS480 |
MRD18 |
Autosomal Dominant Non-Syndromic Intellectual Disability 19 |
ATS417 |
MRD19 |
Autosomal Dominant Non-Syndromic Intellectual Disability 2 |
ATS384 |
MRD2 |
Autosomal Dominant Non-Syndromic Intellectual Disability 3 |
ATS385 |
MRD3 |
Autosomal Dominant Non-Syndromic Intellectual Disability 4 |
ATS386 |
MRD4 |
Autosomal Dominant Non-Syndromic Intellectual Disability 5 |
ATS387 |
MRD5 |
Autosomal Dominant Non-Syndromic Intellectual Disability 6 |
ATS388 |
MRD6 |
Autosomal Dominant Non-Syndromic Intellectual Disability 8 |
ATS389 |
MRD8 |
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
ATS251 |
|
Autosomal Dominant Optic Atrophy and Peripheral Neuropathy |
ATS077 |
|
Autosomal Dominant Partial Epilepsy with Auditory Features |
ATS012 |
ETL1 |
Autosomal Dominant Polycystic Kidney Disease |
ATS347 |
ADPKD |
Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome |
ATS356 |
|
Autosomal Dominant Progressive External Ophthalmoplegia |
ATS025 |
ADPEO |
Autosomal Dominant Proximal Renal Tubular Acidosis |
ATS111 |
|
Autosomal Dominant Proximal Spinal Muscular Atrophy |
ATS433 |
|
Autosomal Dominant Pure Spastic Paraplegia |
ATS470 |
|
Autosomal Dominant Robinow Syndrome |
ATS082 |
|
Autosomal Dominant Secondary Polycythemia |
ATS209 |
|
Autosomal Dominant Severe Congenital Neutropenia |
ATS483 |
|
Autosomal Dominant Sideroblastic Anemia 4 |
ATS407 |
|
Autosomal Dominant Spastic Ataxia |
ATS437 |
|
Autosomal Dominant Spastic Paraplegia Type 9b |
ATS412 |
|
Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 |
ATS418 |
|
Autosomal Dominant Trpv4 Disorders |
ATS491 |
|
Autosomal Dominant Tubulointerstitial Kidney Disease |
ATS382 |
MCKD |
Autosomal Dominant Tubulointerstitial Kidney Disease - Ren |
ATS492 |
FJHN2 |
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations |
ATS404 |
|
Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related |
ATS310 |
MCKD1 |
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related |
ATS312 |
FJHN |
Autosomal Dominant Wolfram Syndrome |
ATS423 |
|
Autosomal Erythropoietic Protoporphyria |
ATS324 |
EPP |
Autosomal Genetic Disease |
ATS009 |
|
Autosomal Ichthyosis Syndrome |
ATS439 |
|
Autosomal Ichthyosis Syndrome with Fatal Disease Course |
ATS442 |
|
Autosomal Ichthyosis Syndrome with Other Associated Signs |
ATS440 |
|
Autosomal Ichthyosis Syndrome with Prominent Hair Abnormalities |
ATS443 |
|
Autosomal Ichthyosis Syndrome with Prominent Neurologic Signs |
ATS441 |
|
Autosomal Monosomy |
ATS469 |
|
Autosomal Recessive Alport Syndrome |
ATS018 |
|
Autosomal Recessive Ataxia Due to Pex10 Deficiency |
ATS074 |
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect |
ATS421 |
|
Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy |
ATS452 |
|
Autosomal Recessive Brachyolmia |
ATS448 |
|
Autosomal Recessive Cerebellar Ataxia |
ATS307 |
ARCA |
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect |
ATS459 |
|
Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity |
ATS112 |
|
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome |
ATS449 |
|
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
ATS233 |
|
Autosomal Recessive Cerebral Atrophy |
ATS179 |
|
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
ATS314 |
|
Autosomal Recessive Complex Spastic Paraplegia |
ATS154 |
|
Autosomal Recessive Congenital Bilateral Absence of Vas Deferens |
ATS478 |
|
Autosomal Recessive Congenital Cerebellar Ataxia |
ATS460 |
|
Autosomal Recessive Congenital Ichthyosis |
ATS013 |
LI |
Autosomal Recessive Congenital Stationary Night Blindness |
ATS169 |
|
Autosomal Recessive Cutis Laxa Type 2 |
ATS451 |
ARCL2 |
Autosomal Recessive Cutis Laxa Type I |
ATS393 |
ARCL1 |
Autosomal Recessive Cutis Laxa Type Ii Classic Type |
ATS391 |
|
Autosomal Recessive Cutis Laxa Type Iii |
ATS392 |
|
Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia |
ATS456 |
|
Autosomal Recessive Disease |
ATS010 |
|
Autosomal Recessive Disease Associated with Punctate Palmoplantar Keratoderma As a Major Feature |
ATS446 |
|
Autosomal Recessive Disease with Diffuse Palmoplantar Keratoderma As a Major Feature |
ATS444 |
|
Autosomal Recessive Disease with Focal Palmoplantar Keratoderma As a Major Feature |
ATS467 |
|
Autosomal Recessive Distal Hereditary Motor Neuronopathy |
ATS425 |
|
Autosomal Recessive Distal Hereditary Motor Neuropathy |
ATS428 |
|
Autosomal Recessive Distal Myopathy |
ATS431 |
|
Autosomal Recessive Distal Renal Tubular Acidosis |
ATS494 |
RTADR |
Autosomal Recessive Epidermolytic Ichthyosis |
ATS416 |
AREI |
Autosomal Recessive Hereditary Demyelinating Motor and Sensory Neuropathy |
ATS430 |
|
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy |
ATS273 |
|
Autosomal Recessive Hypophosphatemic Rickets |
ATS239 |
ARHR |
Autosomal Recessive Intellectual Disability 58 |
ATS360 |
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
ATS274 |
|
Autosomal Recessive Isolated Diffuse Palmoplantar Keratoderma |
ATS466 |
|
Autosomal Recessive Isolated Optic Atrophy |
ATS326 |
|
Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome |
ATS361 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
ATS331 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
ATS279 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
ATS298 |
LGMD3 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
ATS246 |
DMDA1 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
ATS277 |
DMDA2 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
ATS297 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
ATS299 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
ATS280 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
ATS207 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
ATS217 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
ATS211 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
ATS332 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
ATS333 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
ATS354 |
|
Autosomal Recessive Malignant Osteopetrosis |
ATS282 |
|
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Complete Deficiency |
ATS435 |
|
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to a Partial Deficiency |
ATS436 |
|
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Jak1 Deficiency |
ATS479 |
|
Autosomal Recessive Metabolic Cerebellar Ataxia |
ATS458 |
|
Autosomal Recessive Nail Dysplasia |
ATS117 |
|
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract |
ATS022 |
|
Autosomal Recessive Nonsyndromic Deafness |
ATS006 |
|
Autosomal Recessive Nonsyndromic Deafness 106 |
ATS396 |
|
Autosomal Recessive Nonsyndromic Deafness 107 |
ATS397 |
|
Autosomal Recessive Nonsyndromic Deafness 108 |
ATS398 |
|
Autosomal Recessive Nonsyndromic Deafness 116 |
ATS486 |
|
Autosomal Recessive Nonsyndromic Deafness 3 |
ATS336 |
DFNB3 |
Autosomal Recessive Nonsyndromic Deafness 32 |
ATS409 |
|
Autosomal Recessive Nonsyndromic Deafness 36 |
ATS380 |
|
Autosomal Recessive Non-Syndromic Intellectual Disability |
ATS204 |
|
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
ATS252 |
|
Autosomal Recessive Pure Spastic Paraplegia |
ATS153 |
|
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 |
ATS406 |
AISA |
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 3 |
ATS408 |
|
Autosomal Recessive Secondary Polycythemia Not Associated with Vhl Gene |
ATS075 |
|
Autosomal Recessive Severe Congenital Neutropenia |
ATS450 |
|
Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency |
ATS245 |
|
Autosomal Recessive Sideroblastic Anemia |
ATS210 |
ARSA |
Autosomal Recessive Spastic Ataxia |
ATS438 |
|
Autosomal Recessive Spastic Paraplegia Type 59 |
ATS185 |
SPG59 |
Autosomal Recessive Spastic Paraplegia Type 60 |
ATS184 |
SPG60 |
Autosomal Recessive Spastic Paraplegia Type 66 |
ATS190 |
SPG66 |
Autosomal Recessive Spastic Paraplegia Type 67 |
ATS191 |
SPG67 |
Autosomal Recessive Spastic Paraplegia Type 69 |
ATS187 |
SPG69 |
Autosomal Recessive Spastic Paraplegia Type 70 |
ATS188 |
SPG70 |
Autosomal Recessive Spastic Paraplegia Type 71 |
ATS189 |
SPG71 |
Autosomal Recessive Stickler Syndrome |
ATS076 |
|
Autosomal Recessive Syndromic Cerebellar Ataxia |
ATS457 |
|
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome |
ATS003 |
|
Autosomal Recessive Whistling Face Syndrome |
ATS473 |
|
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
ATS285 |
|
Autosomal Thrombocytopenia with Normal Platelets |
ATS205 |
|
Autosomal Trisomy |
ATS454 |
|
Autosomal Uniparental Disomy |
ATS455 |
|
Autotopagnosia |
ATT001 |
|
Avascular Necrosis |
AVS003 |
AVN |
Avascular Necrosis of Femoral Head, Primary, 1 |
AVS006 |
ANFH1 |
Avascular Necrosis of Femoral Head, Primary, 2 |
AVS005 |
ANFH2 |
Avascular Necrosis of Genetic Origin |
AVS007 |
|
Avian Influenza |
AVN001 |
|
Avoidant Personality Disorder |
AVD001 |
|
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities |
AXN011 |
|
Axenfeld-Rieger Syndrome |
AXN002 |
ARS |
Axenfeld-Rieger Syndrome, Type 1 |
AXN009 |
RIEG1 |
Axenfeld-Rieger Syndrome, Type 2 |
AXN012 |
RIEG2 |
Axenfeld-Rieger Syndrome, Type 3 |
AXN010 |
RIEG3 |
Axial Mesodermal Dysplasia Spectrum |
AXL004 |
|
Axial Osteomalacia |
AXL003 |
|
Axillary Adenitis |
AXL002 |
|
Axillary Lipoma |
AXL001 |
|
Axin2-Related Attenuated Familial Adenomatous Polyposis |
AXN008 |
|
Axonal Hereditary Motor and Sensory Neuropathy |
AXN013 |
|
Axonal Neuropathy |
AXN001 |
|
Axonal Polyneuropathy Associated with Igg/igm/iga Monoclonal Gammopathy |
AXN006 |
|
Ayazi Syndrome |
AYZ001 |
|
Ayme-Gripp Syndrome |
AYM001 |
AYGRP |
Azoospermia |
AZS001 |
|
Azotemia, Familial |
AZT005 |
|
Aztreonam Allergy |
AZT006 |
|
Azygos Continuation of the Inferior Vena Cava |
AZY001 |
|