| Disease Name |
Symbol |
Acronym |
| Aapoai Amyloidosis |
APM002 |
|
| Aapoaii Amyloidosis |
APM001 |
|
| Aarskog-Scott Syndrome |
ARS001 |
AAS |
| Abacavir Toxicity |
ABC017 |
|
| Abca1-Associated Familial High Density Lipoprotein Deficiency |
ABC003 |
|
| Abca1-Related Disorders |
ABC004 |
|
| Abca12-Related Autosomal Recessive Congenital Ichthyosis |
ABC002 |
|
| Abca3-Related Pulmonary Surfactant Metabolism Dysfunction |
ABC006 |
|
| Abca4-Related Retinitis Pigmentosa |
ABC007 |
RP19 |
| Abca4-Related Stargardt Disease 1 |
ABC008 |
|
| Abcb1-Related Altered Drug Metabolism |
ABC018 |
MDR1 |
| Abcb11-Related Intrahepatic Cholestasis |
ABC009 |
|
| Abcc2-Related Altered Drug Metabolism |
ABC019 |
MRP2 |
| Abcc4-Related Altered Drug Metabolism |
ABC020 |
MRP4 |
| Abcc8-Related Hyperinsulinism |
ABC010 |
|
| Abcc8-Related Permanent Neonatal Diabetes Mellitus |
ABC011 |
|
| Abcc8-Related Transient Neonatal Diabetes Mellitus 2 |
ABC012 |
TNDM2 |
| Abcc9-Related Dilated Cardiomyopathy |
ABC013 |
|
| Abcc9-Related Familial Atrial Fibrillation |
ABC015 |
|
| Abcd Syndrome |
ABC001 |
ABCDS |
| Abdominal Aortic Aneurysm |
ABD003 |
|
| Abdominal Obesity-Metabolic Syndrome |
ABD016 |
AOMS1 |
| Abdominal Obesity-Metabolic Syndrome 1 |
ABD014 |
|
| Abdominal Obesity-Metabolic Syndrome 3 |
ABD013 |
AOMS3 |
| Abdominal Tuberculosis |
ABD004 |
|
| Abdominal Wall Defect |
ABD010 |
|
| Abetalipoproteinemia |
ABT001 |
ABL |
| Abidi X-Linked Mental Retardation Syndrome |
ABD008 |
|
| Abl1 Kd-Related Altered Drug Metabolism |
ABL003 |
|
| Ablepharon-Macrostomia Syndrome |
ABL002 |
AMS |
| Abnormal Retinal Correspondence |
ABN001 |
|
| Abnormality of Glucagon Secretion |
ABN002 |
|
| Abruzzo-Erickson Syndrome |
ABR009 |
ABERS |
| Absence of Fingerprints Congenital Milia |
ABS001 |
|
| Acalculous Cholecystitis |
ACL001 |
|
| Acanthamoeba Keratitis |
ACN019 |
|
| Acanthocephaliasis |
ACN005 |
|
| Acanthoma |
ACN010 |
|
| Acanthosis Nigricans |
ACN002 |
AN |
| Acat2 Deficiency |
ACT085 |
|
| Acatalasemia |
ACT209 |
ACATLAS |
| Accelerated Tumor Formation |
ACC008 |
|
| Accommodative Esotropia |
ACC003 |
|
| Accommodative Spasm |
ACC002 |
|
| Acd-Related Dyskeratosis Congenita |
ACD010 |
DKCA6 |
| Acdc |
ACD004 |
ACDC |
| Aceruloplasminemia |
ACR006 |
|
| Acetyl-Coa Carboxylase Deficiency |
ACT086 |
ACACAD |
| Acetyl-Coa Carboxylase-Beta Deficiency |
ACT218 |
|
| Achalasia |
ACH005 |
|
| Achalasia-Addisonianism-Alacrimia Syndrome |
ACH037 |
AAAS |
| Achalasia, Familial Esophageal |
ACH015 |
|
| Acheiropody |
ACH001 |
ACHP |
| Achondrogenesis |
ACH011 |
|
| Achondrogenesis Ib |
ACH035 |
ACG1B |
| Achondrogenesis, Type Ia |
ACH033 |
ACG1A |
| Achondrogenesis, Type Ii or Hypochondrogenesis |
ACH032 |
ACG2 |
| Achondroplasia |
ACH004 |
ACH |
| Achromatopsia |
ACH003 |
ACHM |
| Achromatopsia 5 |
ACH024 |
|
| Achromatopsia 7 |
ACH038 |
ACHM7 |
| Achromatopsia-2 |
ACH034 |
ACHM2 |
| Achromatopsia-3 |
ACH036 |
ACHM3 |
| Achromatopsia-4 |
ACH025 |
ACHM4 |
| Acid Sphingomyelinase Deficiency |
ACD003 |
|
| Acid-Labile Subunit, Deficiency of |
ACD009 |
ACLSD |
| Acidophil Adenoma |
ACD001 |
|
| Acinar Cell Carcinoma |
ACN001 |
|
| Acinar Cell Cystadenocarcinoma |
ACN007 |
|
| Acne |
ACN011 |
ACNE |
| Acne Inversa, Familial, 1 |
ACN018 |
ACNINV1 |
| Acne Inversa, Familial, 2 |
ACN017 |
ACNINV2 |
| Acne Inversa, Familial, 3 |
ACN016 |
ACNINV3 |
| Acneiform Dermatitis |
ACN003 |
|
| Acoustic Neuroma |
ACS001 |
|
| Acquired Amegakaryocytic Thrombocytopenia |
ACQ041 |
AAT |
| Acquired Angioedema |
ACQ012 |
|
| Acquired Cutis Laxa |
ACQ027 |
|
| Acquired Generalized Lipodystrophy |
ACQ022 |
|
| Acquired Hemangioma |
ACQ004 |
|
| Acquired Hemophilia |
ACQ014 |
|
| Acquired Hemophilia a |
ACQ042 |
|
| Acquired Idiopathic Sideroblastic Anemia |
ACQ031 |
AISA |
| Acquired Immunodeficiency Syndrome |
ACQ007 |
AIDS |
| Acquired Metabolic Disease |
ACQ009 |
|
| Acquired Methemoglobinemia |
ACQ047 |
|
| Acquired Polycythemia |
ACQ010 |
|
| Acquired Pseudoxanthoma Elasticum |
ACQ026 |
|
| Acquired Thrombocytopenia |
ACQ005 |
|
| Acquired Von Willebrand Syndrome |
ACQ017 |
|
| Acral Dystrophic Epidermolysis Bullosa |
ACR075 |
|
| Acral Lentiginous Melanoma |
ACR014 |
ALM |
| Acral Self-Healing Collodion Baby |
ACR078 |
|
| Acro-Renal-Ocular Syndrome |
ACR059 |
|
| Acrocallosal Syndrome |
ACR008 |
ACLS |
| Acrocapitofemoral Dysplasia |
ACR002 |
ACFD |
| Acrodermatitis |
ACR005 |
|
| Acrodermatitis Chronica Atrophicans |
ACR097 |
|
| Acrodermatitis Continua Suppurativa of Hallopeau |
ACR068 |
|
| Acrodermatitis Enteropathica |
ACR003 |
AEZ |
| Acrodysostosis |
ACR013 |
|
| Acrodysostosis 1, with or Without Hormone Resistance |
ACR066 |
ACRDYS1 |
| Acrodysostosis 2, with or Without Hormone Resistance |
ACR067 |
ACRDYS2 |
| Acrodysostosis with Multiple Hormone Resistance |
ACR079 |
|
| Acrofacial Dysostosis |
ACR017 |
|
| Acrofacial Dysostosis 1, Nager Type |
ACR058 |
AFD1 |
| Acrofacial Dysostosis Syndrome of Rodriguez |
ACR104 |
|
| Acrofacial Dysostosis, Cincinnati Type |
ACR095 |
AFDCIN |
| Acrofrontofacionasal Dysostosis |
ACR093 |
|
| Acrogeria, Gottron Type |
ACR034 |
|
| Acrokeratosis Verruciformis |
ACR004 |
AKV |
| Acromegaloid Facial Appearance Syndrome |
ACR037 |
|
| Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia |
ACR089 |
AOCH |
| Acromegaloid Hypertrichosis Syndrome |
ACR039 |
HAFF |
| Acromegaly |
ACR007 |
|
| Acromelic Frontonasal Dysostosis |
ACR041 |
AFND |
| Acromesomelic Dysplasia |
ACR016 |
|
| Acromesomelic Dysplasia, Demirhan Type |
ACR096 |
AMDD |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
ACR009 |
AMDH |
| Acromesomelic Dysplasia, Maroteaux Type |
ACR011 |
AMDM |
| Acromicric Dysplasia |
ACR043 |
ACMICD |
| Acroosteolysis Dominant Type |
ACR044 |
|
| Acropectoral Syndrome |
ACR019 |
ACRPS |
| Acropectorovertebral Dysplasia |
ACR020 |
|
| Acrorenal Syndrome |
ACR072 |
|
| Acrospiroma |
ACR049 |
|
| Acta1-Related Congenital Fiber-Type Disproportion |
ACT121 |
|
| Acta1-Related Nemaline Myopathy |
ACT122 |
NEM3 |
| Acta2-Related Thoracic Aortic Aneurysms and Aortic Dissections |
ACT123 |
AAT6 |
| Actc1-Related Dilated Cardiomyopathy |
ACT124 |
|
| Actc1-Related Familial Hypertrophic Cardiomyopathy |
ACT125 |
|
| Actg2-Related Disorders |
ACT215 |
|
| Acth Deficiency |
ACT087 |
|
| Acth-Independent Macronodular Adrenal Hyperplasia |
ACT092 |
AIMAH1 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
ACT202 |
AIMAH2 |
| Actin-Accumulation Myopathy |
ACT130 |
|
| Actinic Cheilitis |
ACT093 |
|
| Actinic Keratosis |
ACT008 |
|
| Actinobacillosis |
ACT016 |
|
| Actinomycosis |
ACT055 |
BOIL |
| Active Peptic Ulcer Disease |
ACT058 |
|
| Actn2-Related Dilated Cardiomyopathy |
ACT126 |
|
| Actn2-Related Familial Hypertrophic Cardiomyopathy |
ACT127 |
|
| Acute Adrenal Insufficiency |
ACT150 |
|
| Acute Anterolateral Myocardial Infarction |
ACT052 |
|
| Acute Apical Periodontitis |
ACT046 |
|
| Acute Basophilic Leukemia |
ACT177 |
|
| Acute Biphenotypic Leukemia |
ACT095 |
|
| Acute Cervicitis |
ACT066 |
|
| Acute Chest Syndrome |
ACT017 |
|
| Acute Cholangitis |
ACT036 |
|
| 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 Encephalopathy with Biphasic Seizures and Late Reduced Diffusion |
ACT191 |
AESD |
| Acute Endometritis |
ACT069 |
|
| Acute Endophthalmitis |
ACT047 |
|
| Acute Erythroid Leukemia |
ACT098 |
|
| Acute Frontal Sinusitis |
ACT035 |
|
| Acute Generalized Exanthematous Pustulosis |
ACT167 |
AGEP |
| Acute Gonococcal Salpingitis |
ACT023 |
|
| Acute Graft Versus Host Disease |
ACT135 |
|
| Acute Hemorrhagic Conjunctivitis |
ACT012 |
|
| Acute Hemorrhagic Encephalitis |
ACT065 |
|
| Acute Hemorrhagic Leukoencephalitis |
ACT032 |
AHL |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
ACT233 |
SCAR21 |
| Acute Inferolateral Myocardial Infarction |
ACT051 |
|
| Acute Inflammation of Lacrimal Passage |
ACT070 |
|
| Acute Insulin Response |
ACT088 |
|
| Acute Interstitial Pneumonia |
ACT029 |
AIP |
| Acute Kidney Failure |
ACT071 |
|
| Acute Kidney Tubular Necrosis |
ACT003 |
|
| Acute Laryngitis |
ACT072 |
|
| Acute Leukemia |
ACT073 |
|
| Acute Leukemia of Ambiguous Lineage |
ACT216 |
BAL |
| Acute Liver Failure |
ACT134 |
|
| Acute Lymphoblastic Leukemia, Childhood |
ACT103 |
|
| Acute Lymphocytic Leukemia |
ACT074 |
|
| Acute Maxillary Sinusitis |
ACT059 |
|
| Acute Megakaryoblastic Leukemia in Down Syndrome |
ACT186 |
|
| Acute Megakaryoblastic Leukemia Without Down Syndrome |
ACT165 |
|
| Acute Monoblastic Leukemia |
ACT200 |
|
| Acute Monocytic Leukemia |
ACT009 |
|
| Acute Mountain Sickness |
ACT105 |
|
| Acute Myeloblastic Leukemia with Maturation |
ACT113 |
|
| Acute Myeloblastic Leukemia Without Maturation |
ACT114 |
|
| 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 Cebpa Somatic Mutations |
ACT166 |
|
| 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 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, Flt3-Related |
ACT219 |
AML |
| Acute Myeloid Leukemia, Kit-Related |
ACT220 |
|
| Acute Myeloid Leukemia, Somatic Dnmt3a-Related |
ACT221 |
|
| Acute Myeloid Leukemia, Susceptibility, Gata2-Related |
ACT157 |
|
| Acute Myocardial Infarction |
ACT075 |
|
| Acute Myocarditis |
ACT076 |
|
| Acute Necrotizing Encephalitis |
ACT064 |
|
| Acute Necrotizing Encephalopathy |
ACT232 |
ANE |
| Acute Neonatal Citrullinemia Type I |
ACT189 |
|
| Acute Non Lymphoblastic Leukemia |
ACT118 |
|
| Acute Orbital Inflammation |
ACT077 |
|
| Acute Pancreatitis |
ACT027 |
|
| Acute Pericementitis |
ACT062 |
|
| Acute Porphyria |
ACT078 |
|
| Acute Poststreptococcal Glomerulonephritis |
ACT040 |
|
| Acute Pre-B-Cell Lymphoblastic Leukemia |
ACT222 |
|
| Acute Proliferative Glomerulonephritis |
ACT079 |
|
| Acute Promyelocytic Leukemia Numa/rara Type |
ACT223 |
|
| Acute Promyelocytic Leukemia Pml/rara Type |
ACT224 |
|
| Acute Pulmonary Heart Disease |
ACT080 |
|
| Acute Pyelonephritis |
ACT042 |
|
| Acute Radiation Syndrome |
ACT228 |
|
| Acute Respiratory Distress Syndrome |
ACT210 |
ALI |
| Acute Retinal Necrosis Syndrome |
ACT022 |
|
| Acute Salpingitis |
ACT081 |
|
| Acute Salpingo-Oophoritis |
ACT031 |
|
| Acute Serous Otitis Media |
ACT083 |
|
| Acute Stress Disorder |
ACT084 |
|
| Acute T Cell Leukemia |
ACT020 |
|
| Acute Thyroiditis |
ACT053 |
|
| Acute Transverse Myelitis |
ACT159 |
|
| Acute Tympanitis |
ACT001 |
|
| Acute Vascular Insufficiency of Intestine |
ACT060 |
|
| Acute Zonal Occult Outer Retinopathy |
ACT120 |
AZOOR |
| Acvr2b-Related Visceral Heterotaxy |
ACV001 |
HTX4 |
| Acvrl1-Related Hereditary Hemorrhagic Telangiectasia |
ACV002 |
HHT2 |
| Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of |
ACY006 |
ACADMD |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of |
ACY005 |
ACADSD |
| 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 |
| Adamts10-Related Weill-Marchesani Syndrome |
ADM006 |
|
| Adamtsl4-Related Eye Disorders |
ADM003 |
|
| Adar-Related Aicardi-Goutieres Syndrome |
ADR045 |
|
| Adcy5-Related Dyskinesia |
ADC005 |
FDFM |
| Addison's Disease |
ADD001 |
|
| Adducted Thumbs Syndrome |
ADD006 |
|
| Adenine Phosphoribosyltransferase Deficiency |
ADN024 |
APRTD |
| Adenocarcinoma |
ADN016 |
|
| Adenocarcinoma in Situ |
ADN012 |
|
| Adenofibroma |
ADN017 |
|
| Adenohypophysitis |
ADN064 |
|
| Adenoid Basal Cell Carcinoma |
ADN015 |
|
| Adenoid Hypertrophy |
ADN067 |
|
| Adenoid Squamous Cell Carcinoma |
ADN013 |
|
| Adenoiditis |
ADN002 |
|
| Adenoma |
ADN018 |
|
| Adenoma of Pancreas |
ADN072 |
|
| Adenomas, Multiple Colorectal |
ADN040 |
FAP2 |
| Adenomas, Salivary Gland Pleomorphic |
ADN038 |
|
| Adenomatoid Tumor |
ADN014 |
|
| Adenomatous Polyposis Coli |
ADN021 |
FAP |
| Adenomyoma |
ADN075 |
|
| Adenomyosis |
ADN027 |
|
| Adenosarcoma |
ADN020 |
|
| Adenosine Deaminase 2 Deficiency |
ADN077 |
DADA2 |
| Adenosine Deaminase Deficiency |
ADN001 |
ADA |
| Adenosine Monophosphate Deaminase 1 Deficiency |
ADN029 |
MMDD |
| Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type |
ADN069 |
AMPDDE |
| Adenosine Triphosphate, Elevated, of Erythrocytes |
ADN039 |
PKHYP |
| Adenosquamous Carcinoma |
ADN009 |
|
| Adenosquamous Cell Lung Carcinoma |
ADN010 |
|
| Adenosquamous Gallbladder Carcinoma |
ADN005 |
|
| Adenosquamous Pancreas Carcinoma |
ADN008 |
|
| Adenosquamous Prostate Carcinoma |
ADN007 |
|
| Adenylosuccinase Deficiency |
ADN022 |
ADSLD |
| Adermatoglyphia |
ADR038 |
ADERM |
| Adh1c-Related Parkinson Disease Susceptibility |
ADH005 |
|
| Adhesions of Uterus |
ADH001 |
|
| Adhesive Otitis Media |
ADH006 |
|
| Adiaspiromycosis |
ADS001 |
|
| Adie Pupil |
ADP007 |
|
| Adiponectin Deficiency |
ADP002 |
ADPND |
| Adiposis Dolorosa |
ADP001 |
|
| Adjustment Disorder |
ADJ001 |
|
| Adnp Syndrome |
ADN078 |
HVDAS |
| Adnp-Related Intellectual Disability and Autism Spectrum Disorder |
ADN076 |
|
| Adolescence-Adult Electroclinical Syndrome |
ADL051 |
|
| Adolescent Idiopathic Scoliosis |
ADL086 |
AIS |
| Adolescent-Onset Dystonia of Mixed Type |
ADL094 |
DYT6 |
| Adra2a-Related Altered Drug Metabolism |
ADR046 |
|
| Adrenal Adenoma |
ADR008 |
|
| Adrenal Carcinoma |
ADR005 |
|
| Adrenal Cortex Disease |
ADR009 |
|
| Adrenal Cortical Adenocarcinoma |
ADR004 |
|
| Adrenal Cortical Adenoma |
ADR041 |
|
| Adrenal Cortical Carcinoma |
ADR016 |
ADCC |
| Adrenal Cortical Hypofunction |
ADR010 |
|
| Adrenal Gland Disease |
ADR012 |
|
| Adrenal Gland Pheochromocytoma |
ADR040 |
|
| Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency |
ADR043 |
AH4 |
| Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency |
ADR042 |
AH3 |
| Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism |
ADR026 |
AHC |
| Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete |
ADR044 |
AICSR |
| Adrenal Medulla Cancer |
ADR014 |
|
| Adrenal Neuroblastoma |
ADR003 |
|
| Adrenal Rest Tumor |
ADR001 |
|
| Adrenocortical Insufficiency, Without Ovarian Defect |
ADR037 |
ACIWOD |
| Adrenocorticotropic Hormone Deficiency |
ADR021 |
IAD |
| Adrenoleukodystrophy |
ADR007 |
ALD |
| Adrenomyeloneuropathy |
ADR022 |
AMN |
| Adrenomyodystrophy |
ADR023 |
AMD |
| Adult Acute Lymphocytic Leukemia |
ADL052 |
|
| Adult Astrocytic Tumour |
ADL053 |
|
| Adult Dermatomyositis |
ADL027 |
|
| Adult Fibrosarcoma |
ADL019 |
|
| Adult Hepatocellular Carcinoma |
ADL096 |
|
| Adult I Blood Group with or Without Congenital Cataract |
ADL065 |
|
| Adult I Phenotype Without Cataract |
ADL059 |
|
| Adult Krabbe Disease |
ADL071 |
|
| Adult Lymphoma |
ADL001 |
|
| Adult Malignant Schwannoma |
ADL042 |
|
| Adult Medulloblastoma |
ADL023 |
|
| Adult Mesoblastic Nephroma |
ADL014 |
MEST |
| Adult Neuronal Ceroid Lipofuscinosis |
ADL066 |
ANCL |
| Adult Oligodendroglioma |
ADL008 |
|
| Adult Polyglucosan Body Disease |
ADL060 |
APBD |
| Adult Respiratory Distress Syndrome |
ADL010 |
ARDS |
| Adult Spinal Muscular Atrophy |
ADL016 |
|
| Adult Syndrome |
ADL002 |
ADULT SYNDROME |
| Adult T-Cell Leukemia |
ADL017 |
ATLL |
| Adult Teratoma |
ADL057 |
|
| Adult Xanthogranuloma |
ADL037 |
|
| Adult-Onset Autosomal Recessive Sideroblastic Anemia |
ADL088 |
|
| Adult-Onset Citrullinemia Type I |
ADL083 |
|
| Adult-Onset Distal Myopathy Due to Vcp Mutation |
ADL074 |
|
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due to Dguok Deficiency |
ADL075 |
|
| Adult-Onset Myasthenia Gravis |
ADL084 |
|
| 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 |
ADV002 |
FASPS2 |
| Afferent Loop Syndrome |
AFF001 |
|
| Afib Amyloidosis |
AFB003 |
|
| Afibrinogenemia |
AFB001 |
|
| Afibrinogenemia, Congenital |
AFB002 |
CAFBN |
| African Histoplasmosis |
AFR001 |
|
| African Tick-Bite Fever |
AFR002 |
|
| Agammaglobulinemia |
AGM001 |
IGHM |
| Agammaglobulinemia 1 |
AGM011 |
AGM1 |
| Agammaglobulinemia 2 |
AGM012 |
AGM2 |
| Agammaglobulinemia 3 |
AGM009 |
AGM3 |
| Agammaglobulinemia 4 |
AGM007 |
AGM4 |
| Agammaglobulinemia 5 |
AGM008 |
AGM5 |
| Agammaglobulinemia 6 |
AGM010 |
AGM6 |
| Agammaglobulinemia 7, Autosomal Recessive |
AGM015 |
AGM7 |
| Agammaglobulinemia 8, Autosomal Dominant |
AGM017 |
AGM8 |
| Agammaglobulinemia and Isolated Hormone Deficiency |
AGM006 |
XLA-IGHD |
| Agammaglobulinemia, Non-Bruton Type |
AGM004 |
|
| Agammaglobulinemia, X-Linked 1 |
AGM005 |
XLA |
| Agbl5-Related Retinitis Pigmentosa |
AGB001 |
|
| Age-Related Hearing Impairment 1 |
AGR013 |
|
| Age-Related Hearing Impairment 2 |
AGR014 |
|
| Agenesis of the Corpus Callosum with Peripheral Neuropathy |
AGN003 |
ACCPN |
| Agenesis of the Dorsal Pancreas |
AGN005 |
|
| Aggressive Digital Papillary Adenocarcinoma |
AGG003 |
|
| Aggressive Periodontitis |
AGG001 |
|
| Aggressive Systemic Mastocytosis |
AGG002 |
ASM |
| Agnathia-Otocephaly Complex |
AGN012 |
AGOTC |
| Agnosia |
AGN002 |
|
| Agoraphobia |
AGR002 |
|
| Agraphia |
AGR018 |
|
| Agrn-Related Congenital Myasthenic Syndrome |
AGR012 |
|
| Ahi1-Related Joubert Syndrome |
AH1001 |
|
| Aica-Ribosiduria Due to Atic Deficiency |
ACR021 |
AICAR |
| Aicardi Syndrome |
ACR012 |
AIC |
| Aicardi-Goutieres Syndrome |
ACR001 |
AGS |
| Aicardi-Goutieres Syndrome 1, Dominant and Recessive |
ACR061 |
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 |
| Aids Dementia Complex |
ADS004 |
ADC |
| Aids Wasting Syndrome |
ADS015 |
|
| Ainhum |
ANH001 |
|
| Aip-Related Familial Isolated Pituitary Adenomas |
APR002 |
|
| Aipl1-Related Leber Congenital Amaurosis |
APL013 |
|
| Aipl1-Related Retinitis Pigmentosa |
APL014 |
|
| Akinetic Mutism |
AKN002 |
|
| Akinetopsia |
AKN001 |
|
| Al Amyloidosis |
ALM001 |
|
| Al-Raqad Syndrome |
ALR002 |
ARS |
| Alacrima, Achalasia, and Mental Retardation Syndrome |
ALC028 |
AAMR |
| Alagille Syndrome |
ALG002 |
ALGS1 |
| Alagille Syndrome 2 |
ALG016 |
ALGS2 |
| Aland Island Eye Disease |
ALN001 |
AIED |
| Alazami Syndrome |
ALZ030 |
ALAZS |
| Alazami-Yuan Syndrome |
ALZ044 |
ALYUS |
| Albinism |
ALB002 |
|
| Albinism-Deafness Syndrome |
ALB003 |
ALDS |
| 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 |
| Albright's Hereditary Osteodystrophy |
ALB001 |
AHO |
| Alcohol Abuse |
ALC004 |
|
| Alcohol Dependence |
ALC007 |
|
| Alcohol Sensitivity, Acute |
ALC016 |
|
| Alcohol-Induced Mental Disorder |
ALC013 |
|
| Alcohol-Related Birth Defect |
ALC001 |
ARBD |
| Alcohol-Related Neurodevelopmental Disorder |
ALC002 |
ARND |
| Alcoholic Cardiomyopathy |
ALC010 |
|
| Alcoholic Hepatitis |
ALC006 |
|
| Alcoholic Liver Cirrhosis |
ALC009 |
|
| Alcoholic Neuropathy |
ALC011 |
|
| Alcoholic Pancreatitis |
ALC005 |
|
| Alcoholic Psychosis |
ALC003 |
|
| Aldh18a1-Related Cutis Laxa |
ALD008 |
|
| Aldosteronism, Glucocorticoid-Remediable |
ALD010 |
HALD1 |
| Aleukemic Leukemia Cutis |
ALK003 |
|
| Aleukemic Mast Cell Leukemia |
ALK014 |
|
| Aleukemic Monocytic Leukemia Cutis |
ALK002 |
|
| Aleutian Mink Disease |
ALT002 |
|
| Alexander Disease |
ALX003 |
ALXDRD |
| Alexander Disease Type I |
ALX007 |
|
| Alexander Disease Type Ii |
ALX006 |
|
| Alexia |
ALX001 |
|
| Alexithymia |
ALX002 |
|
| Alg1-Congenital Disorder of Glycosylation |
ALG025 |
CDGIK |
| Alg14-Related Congenital Myasthenic Syndrome Without Tubular Aggregates |
ALG023 |
|
| Alg6-Congenital Disorder of Glycosylation |
ALG024 |
CDGIC |
| Algoneurodystrophy |
ALG001 |
|
| Alk-Negative Anaplastic Large Cell Lymphoma |
ALK016 |
|
| Alk-Positive Anaplastic Large Cell Lymphoma |
ALK015 |
|
| Alk-Positive Large B-Cell Lymphoma |
ALK017 |
|
| Alk-Related Neuroblastoma Susceptibility |
ALK004 |
|
| Alk+ Histiocytosis |
ALK005 |
|
| Alkaptonuria |
ALK013 |
AKU |
| Allan-Herndon-Dudley Syndrome |
ALL001 |
MCT8 DEFICIENCY |
| Allergic Asthma |
ALL006 |
|
| Allergic Bronchopulmonary Aspergillosis |
ALL008 |
ABPA |
| Allergic Conjunctivitis |
ALL009 |
|
| Allergic Contact Dermatitis |
ALL010 |
|
| Allergic Cutaneous Vasculitis |
ALL002 |
|
| Allergic Encephalomyelitis |
ALL014 |
|
| Allergic Hypersensitivity Disease |
ALL026 |
|
| Allergic Rhinitis |
ALL003 |
ALRH |
| Allergic Urticaria |
ALL007 |
|
| Allopurinol Toxicity |
ALL025 |
|
| Alobar Holoprosencephaly |
ALB014 |
|
| Alopecia |
ALP008 |
|
| Alopecia and T-Cell Immunodeficiency |
ALP030 |
|
| Alopecia Areata |
ALP009 |
AA |
| Alopecia Areata 1 |
ALP039 |
|
| Alopecia Areata 2 |
ALP040 |
|
| Alopecia Totalis |
ALP048 |
|
| Alopecia Universalis |
ALP001 |
ALUNC |
| Alopecia-Intellectual Disability Syndrome |
ALP068 |
APMR1 |
| Alopecia-Mental Retardation Syndrome 1 |
ALP076 |
|
| Alopecia-Mental Retardation Syndrome 2 |
ALP075 |
|
| Alopecia-Mental Retardation Syndrome 3 |
ALP063 |
|
| Alopecia, Androgenetic, 1 |
ALP061 |
|
| Alopecia, Androgenetic, 2 |
ALP036 |
|
| Alopecia, Androgenetic, 3 |
ALP037 |
|
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
ALP041 |
ANES |
| Alox12b-Related Autosomal Recessive Congenital Ichthyosis |
ALX004 |
|
| Aloxe3-Related Autosomal Recessive Congenital Ichthyosis |
ALX005 |
|
| Alpha Chain Disease |
ALP005 |
|
| Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
ALP094 |
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
ALP095 |
|
| Alpha-2-Macroglobulin Deficiency |
ALP062 |
|
| Alpha-2-Plasmin Inhibitor Deficiency |
ALP043 |
APLID |
| Alpha-Fetoprotein Deficiency |
ALP072 |
AFPD |
| Alpha-Fetoprotein, Hereditary Persistence of |
ALP088 |
HPAFP |
| Alpha-Ketoglutarate Dehydrogenase Deficiency |
ALP011 |
|
| Alpha-Mannosidosis, Adult Form |
ALP056 |
|
| Alpha-Mannosidosis, Infantile Form |
ALP055 |
|
| Alpha-Methylacetoacetic Aciduria |
ALP077 |
3KTD |
| Alpha-Methylacyl-Coa Racemase Deficiency |
ALP012 |
AMACRD |
| Alpha-Thalassemia Myelodysplasia Syndrome, Somatic |
ALP034 |
ATMDS |
| Alpha-Thalassemia/mental Retardation Syndrome |
ALP014 |
ATRX |
| Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related |
ALP093 |
|
| Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
ALP042 |
T-CMVA |
| Alport Syndrome |
ALP004 |
APSX |
| Alport Syndrome and Thin Basement Membrane Nephropathy |
ALP047 |
|
| Alport Syndrome, Autosomal Dominant |
ALP074 |
APSAD |
| Alport Syndrome, Autosomal Recessive |
ALP073 |
APSAR |
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis |
ALP035 |
ATS-MR |
| Als2-Related Disorders |
ALS003 |
|
| Als5-Related Amyotrophic Lateral Sclerosis |
ALS007 |
ALS5 |
| Alstrom Syndrome |
ALS001 |
ALMS |
| Alternating Esotropia |
ALT004 |
|
| Alternating Exotropia |
ALT003 |
|
| Alternating Hemiplegia of Childhood |
ALT001 |
AHC1 |
| Alternating Hemiplegia of Childhood 2 |
ALT007 |
AHC2 |
| Alveolar Capillary Dysplasia |
ALV006 |
|
| Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins |
ALV007 |
ACDMPV |
| Alveolar Echinococcosis |
ALV002 |
|
| Alveolar Periostitis |
ALV001 |
|
| Alveolar Soft-Part Sarcoma |
ALV010 |
ASPS |
| Alzheimer Disease |
ALZ034 |
AD |
| Alzheimer Disease 12 |
ALZ012 |
AD12 |
| Alzheimer Disease 16 |
ALZ014 |
AD16 |
| Alzheimer Disease 17 |
ALZ031 |
AD17 |
| Alzheimer Disease 18 |
ALZ032 |
AD18 |
| Alzheimer Disease 19, Late Onset |
ALZ033 |
AD19 |
| Alzheimer Disease Mitochondrial |
ALZ029 |
AD-MT |
| Alzheimer Disease Risk Factor |
ALZ008 |
|
| Alzheimer Disease Type 1 |
ALZ002 |
AD1 |
| Alzheimer Disease-2 |
ALZ037 |
AD2 |
| Alzheimer Disease-4 |
ALZ035 |
AD4 |
| Alzheimer Disease, Type 3 |
ALZ036 |
AD3 |
| Alzheimer's Disease 11 |
ALZ040 |
AD11 |
| Alzheimer's Disease 13 |
ALZ041 |
AD13 |
| Alzheimer's Disease 14 |
ALZ042 |
AD14 |
| Alzheimer's Disease 15 |
ALZ043 |
AD15 |
| Alzheimer's Disease 7 |
ALZ039 |
AD7 |
| Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis |
AMR007 |
|
| Amaurosis Fugax |
AMR003 |
|
| Amblyopia |
AMB002 |
|
| Amebiasis |
AMB001 |
|
| Amelanotic Melanoma |
AML001 |
|
| Ameloblastic Carcinoma |
AML004 |
|
| Ameloblastoma |
AML029 |
AOT |
| Amelogenesis Imperfecta |
AML002 |
AI |
| Amelogenesis Imperfecta 1j |
AML054 |
AI1J |
| Amelogenesis Imperfecta Hypomaturation Type |
AML005 |
AIH |
| Amelogenesis Imperfecta Hypoplastic Type, Ig |
AML006 |
ERS |
| Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome |
AML052 |
|
| Amelogenesis Imperfecta, Hypomaturation Type, 2a6 |
AML055 |
AI2A6 |
| Amelogenesis Imperfecta, Type 1e |
AML016 |
AI1E |
| Amelogenesis Imperfecta, Type Ia |
AML047 |
AI1A |
| Amelogenesis Imperfecta, Type Ib |
AML017 |
AI1B |
| Amelogenesis Imperfecta, Type Ic |
AML018 |
AI1C |
| Amelogenesis Imperfecta, Type if |
AML050 |
AI1F |
| Amelogenesis Imperfecta, Type Ig |
AML044 |
AI1G |
| Amelogenesis Imperfecta, Type Ih |
AML048 |
AI1H |
| Amelogenesis Imperfecta, Type Iia1 |
AML024 |
AI2A1 |
| Amelogenesis Imperfecta, Type Iia2 |
AML023 |
AI2A2 |
| Amelogenesis Imperfecta, Type Iia3 |
AML043 |
AI2A3 |
| Amelogenesis Imperfecta, Type Iia4 |
AML049 |
AI2A4 |
| Amelogenesis Imperfecta, Type Iia5 |
AML046 |
AI2A5 |
| Amelogenesis Imperfecta, Type Iii |
AML019 |
AI3 |
| Amelogenesis Imperfecta, Type Iv |
AML020 |
AI4 |
| Amenorrhea |
AMN001 |
|
| Ametropic Amblyopia |
AMT001 |
|
| Amino Acid Metabolic Disorder |
AMN002 |
|
| Aminoaciduria |
AMN006 |
|
| Aminoacylase 1 Deficiency |
AMN007 |
ACY1D |
| Amish Infantile Epilepsy Syndrome |
AMS002 |
SPDRS |
| Aml with Myelodysplasia-Related Features |
AML051 |
|
| Amnestic Disorder |
AMN003 |
|
| Amphetamine Abuse |
AMP007 |
|
| Ampulla of Vater Adenocarcinoma |
AMP009 |
|
| Ampulla of Vater Neoplasm |
AMP003 |
|
| Amt-Related Glycine Encephalopathy |
AMT002 |
|
| Amusia |
AMS001 |
|
| Amyloid Neuropathy |
AMY005 |
|
| Amyloid Tumor |
AMY002 |
|
| Amyloidosis |
AMY004 |
|
| Amyloidosis Aa |
AMY009 |
|
| 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 |
| Amyotrophic Lateral Sclerosis 1 |
AMY091 |
ALS |
| Amyotrophic Lateral Sclerosis 10, with or Without Ftd |
AMY040 |
ALS10 |
| Amyotrophic Lateral Sclerosis 11 |
AMY083 |
ALS11 |
| Amyotrophic Lateral Sclerosis 12 |
AMY062 |
ALS12 |
| Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia |
AMY061 |
ALS14 |
| Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia |
AMY068 |
ALS15 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
AMY057 |
ALS16 |
| Amyotrophic Lateral Sclerosis 17 |
AMY055 |
ALS17 |
| 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 Frontotemoral Dementia |
AMY092 |
ALS22 |
| 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 |
AMY095 |
ALS6 |
| Amyotrophic Lateral Sclerosis 7 |
AMY089 |
ALS7 |
| Amyotrophic Lateral Sclerosis 8 |
AMY090 |
ALS8 |
| Amyotrophic Lateral Sclerosis 9 |
AMY085 |
ALS9 |
| Amyotrophic Lateral Sclerosis Type 10 |
AMY019 |
ALS10 |
| Amyotrophic Lateral Sclerosis Type 14 |
AMY074 |
ALS14 |
| Amyotrophic Lateral Sclerosis Type 5 |
AMY022 |
ALS5 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex |
AMY066 |
ALS-PDC1 |
| Amyotrophic Neuralgia |
AMY003 |
|
| Amyotrophy, Hereditary Neuralgic |
AMY086 |
HNA |
| Amyotrophy, Monomelic |
AMY098 |
|
| Anaerobic Meningitis |
ANR005 |
|
| Anal Canal Adenocarcinoma |
ANL014 |
|
| Anal Canal Carcinoma |
ANL011 |
|
| Anal Canal Squamous Cell Carcinoma |
ANL004 |
|
| Anal Carcinoma in Situ |
ANL008 |
|
| Anal Fistula |
ANL022 |
|
| Anal Gland Adenocarcinoma |
ANL012 |
|
| Anal Margin Carcinoma |
ANL016 |
|
| Anal Paget's Disease |
ANL006 |
|
| Anal Spasm |
ANL005 |
|
| Anal Sphincter Dysplasia |
ANL019 |
ASDP |
| Anal Squamous Cell Carcinoma |
ANL017 |
|
| Analbuminemia |
ANL018 |
ANALBA |
| Anaplastic Ependymoma |
ANP006 |
|
| Anaplastic Ganglioglioma |
ANP007 |
|
| Anaplastic Large Cell Lymphoma |
ANP001 |
ALCL |
| Anaplastic Oligoastrocytoma |
ANP008 |
AMOA |
| Anaplastic Oligodendroglioma |
ANP009 |
|
| Anauxetic Dysplasia |
ANX001 |
|
| Anauxetic Dysplasia 1 |
ANX007 |
|
| Anca-Associated Vasculitis |
ANC002 |
AAV |
| Ancylostomiasis |
ANC001 |
|
| Andersen Syndrome |
AND016 |
LQT7 |
| Andersen Syndrome Type 1 |
AND007 |
LQT7 |
| Androgen Insensitivity |
AND015 |
AIS |
| Androgen Insensitivity, Partial, with or Without Breast Cancer |
AND010 |
PAIS |
| Androgenic Alopecia |
AND014 |
|
| Anemia of Prematurity |
ANM001 |
|
| Anemia, Hemolytic, Due to Umph1 Deficiency |
ANM012 |
P5ND |
| Anemia, Hemolytic, Rh-Null, Regulator Type |
ANM009 |
RHN |
| Anemia, Hypochromic Microcytic |
ANM030 |
AHMIO1 |
| Anemia, Hypochromic Microcytic, with Iron Overload 2 |
ANM027 |
AHMIO2 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
ANM032 |
SIDBA3 |
| Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive |
ANM028 |
SIDBA2 |
| Anemia, Sideroblastic, with Ataxia |
ANM008 |
ASAT |
| Anemia, Sideroblastic, X-Linked |
ANM029 |
SIDBA1 |
| Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities |
ANM026 |
XLAWT |
| Anencephaly |
ANN002 |
|
| Aneurysm |
ANR040 |
|
| Aneurysm, Intracranial Berry, 1 |
ANR027 |
|
| Aneurysm, Intracranial Berry, 10 |
ANR025 |
|
| Aneurysm, Intracranial Berry, 11 |
ANR039 |
|
| Aneurysm, Intracranial Berry, 2 |
ANR011 |
ANIB2 |
| Aneurysm, Intracranial Berry, 3 |
ANR028 |
|
| Aneurysm, Intracranial Berry, 4 |
ANR022 |
|
| Aneurysm, Intracranial Berry, 5 |
ANR026 |
|
| Aneurysm, Intracranial Berry, 6 |
ANR029 |
|
| Aneurysm, Intracranial Berry, 7 |
ANR023 |
|
| Aneurysm, Intracranial Berry, 8 |
ANR030 |
|
| Aneurysm, Intracranial Berry, 9 |
ANR024 |
|
| Aneurysmal Bone Cysts |
ANR009 |
|
| Ang-Related Amyotrophic Lateral Sclerosis |
ANG036 |
|
| Angel-Shaped Phalangoepiphyseal Dysplasia |
ANG066 |
ASPED |
| 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 |
|
| Angina Pectoris |
ANG054 |
|
| Angiocentric Glioma |
ANG050 |
|
| Angiodysplasia |
ANG011 |
|
| Angioedema |
ANG015 |
|
| Angioedema Induced by Ace Inhibitors |
ANG049 |
AEACEI |
| Angioedema, Hereditary, Type Iii |
ANG045 |
HAE3 |
| Angioedema, Hereditary, Types I and Ii |
ANG041 |
HAE |
| Angioid Streaks |
ANG004 |
|
| 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 |
|
| Angiolipoma |
ANG017 |
|
| Angioma Serpiginosum |
ANG013 |
|
| Angioma, Tufted |
ANG065 |
|
| Angiomatosis |
ANG037 |
|
| Angiomatous Meningioma |
ANG009 |
|
| Angiomyolipoma |
ANG018 |
|
| Angiomyoma |
ANG019 |
|
| Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps |
ANG060 |
HANAC |
| Angiosarcoma |
ANG020 |
|
| Angiosarcoma of the Scalp |
ANG034 |
|
| Angiostrongyliasis |
ANG002 |
|
| Angular Cheilitis |
ANG061 |
|
| Anhaptoglobinemia |
ANH003 |
AHP |
| Anhidrosis |
ANH002 |
|
| Anhidrosis, Isolated, with Normal Sweat Glands |
ANH004 |
ANHD |
| Animal Phobia |
ANM002 |
|
| Aniridia |
ANR002 |
AN1 |
| Aniridia 3 |
ANR046 |
AN3 |
| Anisakiasis |
ANS003 |
|
| Aniseikonia |
ANS002 |
|
| Anismus |
ANS018 |
|
| Anisomastia |
ANS015 |
|
| Anisometropia |
ANS004 |
|
| Ank1-Related Spherocytosis |
ANK011 |
SPH1 |
| Ankrd1-Related Dilated Cardiomyopathy |
ANK006 |
|
| Ankyloglossia |
ANK008 |
|
| Ankylosis |
ANK001 |
|
| Ankyrin-B Syndrome |
ANK016 |
|
| Ano5-Related Muscle Diseases |
AN5001 |
|
| Anodontia |
AND001 |
|
| Anogenital Venereal Wart |
ANG005 |
|
| Anomalous Left Coronary Artery from the Pulmonary Artery |
ANM031 |
|
| Anonychia Congenita |
ANN001 |
NDNC4 |
| Anophthalmia-Esophageal Atresia-Genital Abnormalities Syndrome |
ANP020 |
|
| Anophthalmia/microphthalmia |
ANP022 |
|
| Anophthalmos with Limb Anomalies |
ANP019 |
|
| Anorchia |
ANR018 |
|
| Anorexia Nervosa |
ANR007 |
ANON2 |
| Anorexia Nervosa 1 |
ANR038 |
|
| Anos1-Related Isolated Gonadotropin-Releasing Hormone Deficiency |
ANS020 |
|
| Anosmia, Isolated Congenital |
ANS017 |
ANIC |
| Anosognosia |
ANS006 |
|
| Anovulation |
ANV001 |
|
| Anoxia |
ANX004 |
|
| Antenatal Bartter Syndrome |
ANT061 |
|
| Anterior Cerebral Artery Infarction |
ANT004 |
|
| Anterior Compartment Syndrome |
ANT010 |
|
| Anterior Cranial Fossa Meningioma |
ANT022 |
|
| Anterior Cruciate Ligament Tears |
ANT051 |
|
| Anterior Horn Cell Disease |
ANT007 |
|
| Anterior Scleritis |
ANT023 |
|
| Anterior Segment Dysgenesis 8 |
ANT067 |
ASGD8 |
| Anterior Segment Mesenchymal Dysgenesis |
ANT026 |
ASGD1 |
| Anterior Spinal Artery Syndrome |
ANT013 |
|
| Anterior Uveitis |
ANT034 |
|
| Anterograde Amnesia |
ANT019 |
|
| Anterolateral Myocardial Infarction |
ANT001 |
|
| Anteroseptal Myocardial Infarction |
ANT005 |
|
| Anthracosilicosis |
ANT017 |
|
| Anthracosis |
ANT018 |
|
| Anthrax Disease |
ANT024 |
|
| Anti-Basement Membrane Glomerulonephritis |
ANT002 |
|
| Anti-P200 Pemphigoid |
ANT063 |
|
| Antidepressant or Antipsychotic Toxicity or Dose Selection |
ANT064 |
|
| Antiphospholipid Syndrome |
ANT006 |
APS |
| Antiphospholipid Syndrome, Familial |
ANT041 |
|
| Antisocial Personality Disorder |
ANT011 |
|
| Antisynthetase Syndrome |
ANT039 |
|
| 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 |
| Anuria |
ANR004 |
|
| Anus Adenocarcinoma |
ANS010 |
|
| Anus Basaloid Carcinoma |
ANS001 |
|
| Anus Cancer |
ANS011 |
|
| Anus Disease |
ANS012 |
|
| Anxiety Disorder |
ANX002 |
|
| Aorta Angiosarcoma |
ART003 |
|
| Aortic Aneurysm |
ART016 |
|
| Aortic Aneurysm, Familial Abdominal, 4 |
ART108 |
|
| Aortic Aneurysm, Familial Thoracic 1 |
ART067 |
|
| Aortic Aneurysm, Familial Thoracic 10 |
ART134 |
AAT10 |
| Aortic Aneurysm, Familial Thoracic 11 |
ART133 |
AAT11 |
| Aortic Aneurysm, Familial Thoracic 2 |
ART068 |
|
| 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 Atherosclerosis |
ART004 |
|
| Aortic Coarctation |
ART031 |
|
| Aortic Disease |
ART017 |
|
| Aortic Valve Disease 1 |
ART115 |
AOVD1 |
| Aortic Valve Disease 2 |
ART101 |
AOVD2 |
| Aortic Valve Insufficiency |
ART018 |
|
| Aortic Valve Prolapse |
ART015 |
|
| Aortitis |
ART012 |
|
| Apc-Associated Polyposis Conditions |
APC006 |
|
| Apert Syndrome |
APR006 |
APRS |
| Aphakia, Congenital Primary |
APH010 |
ASGD2 |
| Aphasia |
APH002 |
|
| Aphthous Stomatitis |
APH001 |
|
| Apical Myocardial Infarction |
APC001 |
|
| Aplasia Cutis Congenita |
APL006 |
ACC |
| Aplasia Cutis Congenita, Nonsyndromic |
APL023 |
ACC |
| Aplasia of Lacrimal and Salivary Glands |
APL002 |
ALSG |
| Aplastic Anemia |
APL001 |
AA |
| Aplastic Anemia Susceptibility, Sbds-Related |
APL030 |
|
| Aplastic Anemia, Ifng-Related |
APL021 |
|
| Aplastic Anemia, Prf1-Related |
APL031 |
|
| Apo a-I Deficiency |
APD001 |
|
| Apoa1-Associated Familial High Density Lipoprotein Deficiency |
AP1001 |
|
| Apoa1-Related Familial Visceral Amyloidosis |
AP1002 |
|
| Apob-Related Familial Hypercholesterolemia, Autosomal Dominant |
APB001 |
|
| Apocrine Adenocarcinoma |
APC004 |
|
| Apocrine Adenoma |
APC003 |
|
| Apocrine Adenosis of Breast |
APC002 |
|
| Apocrine Sweat Gland Neoplasm |
APC005 |
|
| Apoe P.leu167del-Related Lipid Disorders |
APP012 |
|
| Apolipoprotein a-Ii Deficiency |
APL003 |
|
| Apolipoprotein C-Iii Deficiency |
APL024 |
HALP2 |
| Apparent Mineralocorticoid Excess |
APP015 |
AME |
| Appendicitis |
APP008 |
|
| Appendix Adenocarcinoma |
APP009 |
|
| Appendix Cancer |
APP010 |
|
| Appendix Carcinoid Tumor |
APP013 |
|
| Appendix Lymphoma |
APP002 |
|
| Apperceptive Agnosia |
APP006 |
|
| Apple Allergy |
APP016 |
|
| Apraxia |
APR001 |
|
| Aptx-Related Coenzyme Q10 Deficiency |
APT001 |
|
| Aqueous Misdirection |
AQS001 |
|
| Arachnoid Cysts |
ARC007 |
|
| Arachnoiditis |
ARC002 |
|
| Arcus Senilis |
ARC001 |
|
| Aregenerative Anemia |
ARG006 |
|
| Arena Syndrome |
ARN001 |
|
| Argentine Hemorrhagic Fever |
ARG001 |
|
| Argininemia |
ARG007 |
ARGIN |
| Argininosuccinic Aciduria |
ARG002 |
ARGINSA |
| Arhgef9-Related Hyperekplexia |
ARH002 |
|
| Arhinia, Choanal Atresia, and Microphthalmia |
ARH003 |
BAMS |
| Ariboflavinosis |
ARB001 |
|
| Arid1a-Related Coffin-Siris Syndrome |
ARD002 |
CSS2 |
| Arid1b-Related Coffin-Siris Syndrome |
ARD003 |
CSS1 |
| Arl13b-Related Joubert Syndrome |
ARL002 |
|
| Arl2bp-Related Retinitis Pigmentosa |
ARL007 |
|
| Arl6-Related Bardet-Biedl Syndrome |
ARL003 |
BBS3 |
| Arl6-Related Retinitis Pigmentosa |
ARL005 |
RP55 |
| Armfield X-Linked Mental Retardation Syndrome |
ARM006 |
MRXSA |
| 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 1 |
ARR026 |
ARVD1 |
| Arrhythmogenic Right Ventricular Dysplasia 10 |
ARR040 |
ARVD10 |
| Arrhythmogenic Right Ventricular Dysplasia 11 |
ARR038 |
ARVD11 |
| Arrhythmogenic Right Ventricular Dysplasia 12 |
ARR037 |
ARVD12 |
| Arrhythmogenic Right Ventricular Dysplasia 2 |
ARR030 |
ARVD2 |
| Arrhythmogenic Right Ventricular Dysplasia 3 |
ARR036 |
ARVC3 |
| Arrhythmogenic Right Ventricular Dysplasia 4 |
ARR033 |
ARVC4 |
| Arrhythmogenic Right Ventricular Dysplasia 5 |
ARR025 |
ARVD5 |
| Arrhythmogenic Right Ventricular Dysplasia 6 |
ARR034 |
ARVC6 |
| Arrhythmogenic Right Ventricular Dysplasia 8 |
ARR029 |
ARVD8 |
| Arrhythmogenic Right Ventricular Dysplasia 9 |
ARR035 |
ARVD9 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
ARR041 |
ARVD13 |
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 1 |
ARR004 |
ARVD1 |
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 2 |
ARR005 |
ARVD2 |
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 5 |
ARR008 |
ARVD5 |
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 8 |
ARR011 |
ARVD8 |
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 9 |
ARR012 |
ARVD9 |
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy10 |
ARR014 |
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy11 |
ARR015 |
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy12 |
ARR016 |
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy13 |
ARR043 |
|
| Arsacs |
ARS002 |
SACS |
| Artemis Deficiency |
ART009 |
|
| Arterial Calcification of Infancy |
ART035 |
GACI |
| Arterial Calcification, Generalized, of Infancy, 1 |
ART106 |
GACI1 |
| Arterial Calcification, Generalized, of Infancy, 2 |
ART102 |
GACI2 |
| Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly |
ART132 |
GRNG |
| Arterial Tortuosity Syndrome |
ART001 |
ATS |
| Arteriolosclerosis |
ART010 |
|
| Arteriosclerosis |
ART021 |
|
| Arteriosclerosis Obliterans |
ART008 |
|
| Arteriovenous Fistula |
ART084 |
|
| Arteriovenous Malformation |
ART005 |
AVM |
| Arteritic Anterior Ischemic Optic Neuropathy |
ART110 |
|
| Artery Disease |
ART111 |
|
| Arthritis |
ART022 |
|
| Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis |
ART058 |
|
| Arthrogryposis Multiplex Congenita, Distal, Type 1 |
ART121 |
DA1A |
| Arthrogryposis, Distal, Type 1b |
ART060 |
DA1B |
| Arthrogryposis, Distal, Type 2a |
ART061 |
DA2A |
| Arthrogryposis, Distal, Type 2b |
ART117 |
DA2B |
| Arthrogryposis, Distal, Type 3 |
ART120 |
DA3 |
| Arthrogryposis, Distal, Type 4 |
ART131 |
|
| Arthrogryposis, Distal, Type 5 |
ART119 |
DA5 |
| Arthrogryposis, Distal, Type 5d |
ART104 |
DA5D |
| Arthrogryposis, Distal, Type 8 |
ART122 |
DA8 |
| Arthrogryposis, Distal, with Impaired Proprioception and Touch |
ART136 |
DAIPT |
| Arthrogryposis, Lethal, with Anterior Horn Cell Disease |
ART069 |
LAAHD |
| 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, Progressive Pseudorheumatoid, of Childhood |
ART116 |
PPAC |
| Arthus Reaction |
ART006 |
|
| Articulation Disorder |
ART014 |
|
| Arts Syndrome |
ART002 |
ARTS |
| Arx-Related Disorders |
ARX001 |
|
| Asbestos-Related Lung Carcinoma |
ASB002 |
|
| Asbestosis |
ASB001 |
|
| Ascariasis |
ASC002 |
|
| Ascaridiasis |
ASC001 |
|
| Ascending Cholangitis |
ASC003 |
|
| Ascending Colon Cancer |
ASC004 |
|
| Ascites, Chylous |
ASC009 |
|
| Aseptic Meningitis |
ASP003 |
|
| Askin's Tumor |
ASK001 |
|
| Asparagine Synthetase Deficiency |
ASP024 |
ASNSD |
| Aspartate Aminotransferase, Serum Level of, Qtl1 |
ASP025 |
|
| Aspartylglucosaminuria |
ASP002 |
AGU |
| Asperger Syndrome |
ASP001 |
ASPX1 |
| Asperger Syndrome Susceptibility, X-Linked 1 |
ASP018 |
ASPGX1 |
| Asperger Syndrome Susceptibility, X-Linked 2 |
ASP019 |
ASPGX2 |
| Aspergillosis |
ASP006 |
|
| Asphyxia Neonatorum |
ASP004 |
|
| Asphyxiating Thoracic Dystrophy |
ASP005 |
ATD |
| Aspiration Pneumonia |
ASP007 |
|
| Aspiration Pneumonitis |
ASP008 |
|
| Asplenia, Isolated Congenital |
ASP026 |
ICAS |
| Associative Agnosia |
ASS001 |
|
| Astereognosia |
AST004 |
|
| Asthenopia |
AST003 |
|
| Asthma |
AST005 |
ASTHMA |
| Asthma 1 |
AST037 |
ASRT1 |
| Asthma 2 |
AST039 |
ASRT2 |
| Asthma Susceptibility 5 |
AST022 |
ASRT5 |
| Asthma Susceptibility, Adrb2-Related |
AST041 |
|
| Asthma Susceptibility, Ccl11-Related |
AST042 |
|
| Asthma Susceptibility, Hla-G-Related |
AST043 |
|
| Asthma Susceptibility, Hnmt Related |
AST044 |
|
| Asthma Susceptibility, Il13-Related |
AST045 |
|
| Asthma Susceptibility, Muc7-Related |
AST046 |
|
| Asthma Susceptibility, Pla2g7-Related |
AST047 |
|
| Asthma Susceptibility, Scgb3a2-Related |
AST048 |
|
| Asthma Susceptibility, Tnf-Related |
AST049 |
|
| Asthma-Related Traits 3 |
AST033 |
|
| Asthma-Related Traits 4 |
AST034 |
|
| Asthma-Related Traits 6 |
AST035 |
|
| Asthma-Related Traits 7 |
AST032 |
ASRT7 |
| Asthma-Related Traits 8 |
AST036 |
|
| Asthma, Aspirin-Induced |
AST038 |
ANPAI |
| Asthma, Phf11-Related |
AST050 |
|
| Astigmatism |
AST006 |
|
| Astroblastoma |
AST002 |
|
| Astrocytoma |
AST007 |
|
| Asymmetric Motor Neuropathy |
ASY004 |
|
| Asymptomatic Dengue |
ASY001 |
|
| Asymptomatic Neurosyphilis |
ASY002 |
|
| Ataxia |
ATX004 |
|
| Ataxia - Hypogonadism - Choroidal Dystrophy |
ATX021 |
BNS |
| Ataxia and Polyneuropathy, Adult-Onset |
ATX038 |
APAO |
| Ataxia Neuropathy Spectrum |
ATX010 |
ANS |
| Ataxia with Isolated Vitamin E Deficiency |
ATX003 |
AVED |
| Ataxia with Vitamin E Deficiency |
ATX019 |
AVED |
| Ataxia-Oculomotor Apraxia 3 |
ATX024 |
AOA3 |
| Ataxia-Oculomotor Apraxia 4 |
ATX033 |
AOA4 |
| Ataxia-Telangiectasia |
ATX030 |
AT |
| Ataxia-Telangiectasia-Like Disorder |
ATX006 |
ATLD1 |
| Ataxia, Cerebellar, Cayman Type |
ATX018 |
ATCAY |
| Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
ATX031 |
ACPHD |
| Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia |
ATX029 |
AOA |
| Ataxia, Posterior Column, with Retinitis Pigmentosa |
ATX032 |
PCARP |
| Ataxia, Sensory, 1, Autosomal Dominant |
ATX023 |
SNAX1 |
| Ataxia, Spastic, 4 |
ATX016 |
SPAX4 |
| Ataxia, Spastic, 5, Autosomal Recessive |
ATX025 |
SPAX5 |
| Atelosteogenesis |
ATL001 |
|
| Atelosteogenesis Ii |
ATL002 |
AO2 |
| Atelosteogenesis, Type I |
ATL011 |
AO1 |
| Atelosteogenesis, Type Iii |
ATL012 |
AO3 |
| Athabaskan Brainstem Dysgenesis Syndrome |
ATH001 |
ABDS |
| Atherosclerosis |
ATH003 |
|
| Athetosis |
ATH004 |
|
| Athyreosis |
ATH010 |
|
| Atlantoaxial Subluxation |
ATL010 |
|
| Atopic Dermatitis |
ATP001 |
|
| Atopic Dermatitis 3 |
ATP016 |
ATOD3 |
| Atopic Keratoconjunctivitis |
ATP013 |
|
| Atopy |
ATP002 |
ATOPY |
| Atp1a2-Related Alternating Hemiplegia of Childhood |
ATP011 |
AHC1 |
| Atp1a3-Related Alternating Hemiplegia of Childhood |
ATP012 |
AHC2 |
| Atp6v0a2-Related Cutis Laxa |
ATP003 |
|
| Atp7a-Related Copper Transport Disorders |
ATP004 |
|
| Atp7a-Related Distal Motor Neuropathy |
ATP005 |
|
| Atp8b1 Deficiency |
ATP014 |
|
| Atp8b1-Related Intrahepatic Cholestasis |
ATP006 |
|
| Atransferrinemia |
ATR002 |
ATRAF |
| Atrial Fibrillation |
ATR011 |
A-FIB |
| Atrial Fibrillation 15 |
ATR075 |
ATFB15 |
| Atrial Fibrillation and Stroke |
ATR024 |
|
| Atrial Fibrillation, Familial, 1 |
ATR026 |
|
| 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, 2 |
ATR025 |
|
| Atrial Fibrillation, Familial, 3 |
ATR038 |
ATFB3 |
| Atrial Fibrillation, Familial, 4 |
ATR039 |
ATFB4 |
| Atrial Fibrillation, Familial, 5 |
ATR027 |
|
| Atrial Fibrillation, Familial, 6 |
ATR035 |
ATFB6 |
| Atrial Fibrillation, Familial, 7 |
ATR037 |
ATFB7 |
| Atrial Fibrillation, Familial, 8 |
ATR028 |
|
| Atrial Fibrillation, Familial, 9 |
ATR070 |
ATFB9 |
| Atrial Heart Septal Defect |
ATR010 |
|
| 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 Av Conduction Defects |
ATR063 |
ASD7 |
| Atrial Septal Defect 8 |
ATR065 |
ASD8 |
| Atrial Septal Defect 9 |
ATR056 |
ASD9 |
| Atrial Septal Defect Ostium Primum |
ATR018 |
|
| Atrial Septal Defect Sinus Venosus |
ATR019 |
|
| Atrial Standstill |
ATR081 |
|
| Atrial Standstill 2 |
ATR074 |
ATRST2 |
| Atrial Standstill, Digenic |
ATR060 |
ATRST1 |
| Atrial Tachyarrhythmia with Short Pr Interval |
ATR048 |
|
| Atrichia with Papular Lesions |
ATR013 |
APL |
| Atrioventricular Block |
ATR057 |
|
| Atrioventricular Septal Defect |
ATR001 |
ECD |
| Atrioventricular Septal Defect 2 |
ATR047 |
AVSD2 |
| Atrioventricular Septal Defect 3 |
ATR064 |
AVSD3 |
| Atrioventricular Septal Defect 4 |
ATR067 |
AVSD4 |
| Atrioventricular Septal Defect 5 |
ATR071 |
AVSD5 |
| Atrophic Gastritis |
ATR005 |
|
| Atrophic Glossitis |
ATR073 |
|
| Atrophic Lichen Planus |
ATR052 |
|
| Atrophic Rhinitis |
ATR003 |
OZENA |
| Atrophoderma Vermiculata |
ATR054 |
|
| Atrophy of Prostate |
ATR008 |
|
| Atrophy of Testis |
ATR009 |
|
| Attention Deficit-Hyperactivity Disorder |
ATT013 |
ADHD |
| Attention Deficit-Hyperactivity Disorder Susceptibility, Adhd4-Related |
ATT016 |
|
| Attention Deficit-Hyperactivity Disorder Susceptibility, Drd4-Related |
ATT017 |
|
| Attention Deficit-Hyperactivity Disorder Susceptibility, Drd5-Related |
ATT018 |
|
| Attenuated Chédiak-Higashi Syndrome |
ATT012 |
|
| Attenuated Familial Adenomatous Polyposis |
ATT003 |
AAPC |
| Atxn2-Related Parkinson Disease Susceptibility |
ATX034 |
|
| Atypical Autism |
ATY003 |
|
| Atypical Choroid Plexus Papilloma |
ATY002 |
|
| Atypical Chronic Myeloid Leukemia |
ATY042 |
ACML |
| Atypical Depressive Disorder |
ATY001 |
|
| Atypical Follicular Adenoma |
ATY007 |
|
| Atypical Glycine Encephalopathy |
ATY025 |
|
| Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly |
ATY036 |
|
| Atypical Juvenile Parkinsonism |
ATY034 |
|
| Atypical Lipomatous Tumor |
ATY008 |
ALT |
| Atypical Neurofibroma |
ATY004 |
|
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
ATY030 |
|
| Atypical Polypoid Adenomyoma |
ATY009 |
|
| Atypical Teratoid Rhabdoid Tumor |
ATY005 |
|
| Atypical Werner Syndrome |
ATY016 |
|
| Au-Kline Syndrome |
AKL001 |
AUKS |
| Audiogenic Seizures |
ADG002 |
|
| Auditory Agnosia |
ADT001 |
|
| Auditory Neuropathy |
ADT004 |
|
| Auditory Neuropathy, Autosomal Dominant, 1 |
ADT007 |
AUNA1 |
| Auditory System Cancer |
ADT002 |
|
| Auditory System Disease |
ADT003 |
|
| Aural Atresia, Congenital |
ARL004 |
CAA |
| Auriculo-Condylar Syndrome |
ARC008 |
|
| Auriculocondylar Syndrome 1 |
ARC016 |
ARCND1 |
| Auriculocondylar Syndrome 2 |
ARC011 |
ARCND2 |
| Auriculocondylar Syndrome 3 |
ARC017 |
ARCND3 |
| Autism 18 |
ATS173 |
AUTS18 |
| Autism 19 |
ATS170 |
AUTS19 |
| Autism 9 |
ATS171 |
|
| Autism Spectrum Disorder |
ATS007 |
ASD |
| Autism Spectrum Disorder Susceptibility, Chd8-Related |
ATS350 |
|
| Autism Spectrum Disorder Susceptibility, Kmt5b-Related |
ATS351 |
|
| Autism Susceptibility 15 |
ATS051 |
AUTS15 |
| Autism Susceptibility 16 |
ATS050 |
AUTS16 |
| Autism Susceptibility 17 |
ATS046 |
AUTS17 |
| Autism Susceptibility, X-Linked 1 |
ATS048 |
AUTSX1 |
| Autism Susceptibility, X-Linked 2 |
ATS049 |
AUTSX2 |
| Autism Susceptibility, X-Linked 3 |
ATS044 |
AUTSX3 |
| Autism Susceptibility, X-Linked 4 |
ATS043 |
|
| Autism X-Linked 4 |
ATS268 |
AUTSX4 |
| Autism X-Linked 5 |
ATS177 |
AUTSX5 |
| Autistic Disorder |
ATS001 |
|
| Autoimmune Addison Disease |
ATM078 |
|
| Autoimmune Atrophic Gastritis |
ATM060 |
|
| Autoimmune Autonomic Ganglionopathy |
ATM074 |
|
| Autoimmune Disease 1 |
ATM052 |
AIS1 |
| Autoimmune Disease 2 |
ATM053 |
|
| Autoimmune Disease 3 |
ATM054 |
|
| Autoimmune Disease 4 |
ATM055 |
|
| Autoimmune Disease 6 |
ATM059 |
AIS6 |
| Autoimmune Disease of Blood |
ATM012 |
|
| Autoimmune Disease of Central Nervous System |
ATM007 |
|
| Autoimmune Disease of Endocrine System |
ATM014 |
|
| Autoimmune Disease of Gastrointestinal Tract |
ATM015 |
|
| Autoimmune Disease of Skin and Connective Tissue |
ATM016 |
|
| Autoimmune Disease of Urogenital Tract |
ATM018 |
|
| Autoimmune Disease, Multisystem, Infantile-Onset |
ATM080 |
ADMIO1 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
ATM093 |
ADMIO2 |
| Autoimmune Disease, Multisystem, with Facial Dysmorphism |
ATM081 |
ADMFD |
| Autoimmune Encephalitis |
ATM075 |
|
| Autoimmune Enteropathy |
ATM020 |
|
| Autoimmune Hemolytic Anemia |
ATM010 |
|
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
ATM091 |
|
| Autoimmune Hepatitis |
ATM011 |
AIH |
| Autoimmune Hypoparathyroidism |
ATM068 |
|
| Autoimmune Inner Ear Disease |
ATM021 |
AIED |
| Autoimmune Interstitial Lung, Joint, and Kidney Disease |
ATM086 |
AILJK |
| Autoimmune Lymphoproliferative Syndrome |
ATM006 |
ALPS1A |
| Autoimmune Lymphoproliferative Syndrome, Type Ii |
ATM030 |
ALPS2A |
| Autoimmune Lymphoproliferative Syndrome, Type Iib |
ATM046 |
CASP8D |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
ATM083 |
ALPS3 |
| Autoimmune Lymphoproliferative Syndrome, Type V |
ATM082 |
ALPS5 |
| Autoimmune Myocarditis |
ATM022 |
|
| Autoimmune Neuropathy |
ATM089 |
|
| Autoimmune Pancreatitis |
ATM024 |
AIP |
| Autoimmune Polyendocrine Syndrome |
ATM019 |
|
| Autoimmune Polyendocrine Syndrome Type 1 |
ATM002 |
APS1 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
ATM092 |
APS2 |
| Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia |
ATM033 |
APS1 |
| Autoimmune Polyglandular Syndrome Type 3 |
ATM061 |
APS3 |
| Autoimmune Retinopathy |
ATM076 |
|
| Autoimmune Thyroid Disease 1 |
ATM056 |
|
| Autoimmune Thyroid Disease 2 |
ATM057 |
|
| Autoimmune Thyroid Disease 3 |
ATM050 |
AITD3 |
| Autoimmune Thyroid Disease 4 |
ATM058 |
|
| Autoinflammation with Infantile Enterocolitis |
ATN011 |
AIFEC |
| Autoinflammation, Antibody Deficiency, and Immune Dysregulation Syndrome |
ATN010 |
APLAID |
| Autoinflammation, Lipodystrophy, and Dermatosis Syndrome |
ATN007 |
NKJO |
| Autonomic Dysfunction |
ATN005 |
|
| Autonomic Nervous System Disease |
ATN002 |
|
| Autonomic Nervous System Neoplasm |
ATN003 |
|
| Autonomic Neuropathy |
ATN004 |
|
| Autonomic Peripheral Neuropathy |
ATN001 |
|
| Autosomal Dominant Café Au Lait Spots |
ATS270 |
NF6 |
| Autosomal Dominant Cerebellar Ataxia |
ATS308 |
SCA |
| 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 2z |
ATS353 |
|
| Autosomal Dominant Complex Spastic Paraplegia Type 9b |
ATS321 |
|
| Autosomal Dominant Congenital Stationary Night Blindness |
ATS168 |
|
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
ATS254 |
DDOD |
| Autosomal Dominant Disease |
ATS008 |
|
| Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome |
ATS357 |
|
| Autosomal Dominant Epilepsy with Auditory Features |
ATS301 |
ADEAF |
| Autosomal Dominant Intermediate Charcot-Marie-Tooth |
ATS272 |
CMTDI |
| Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B |
ATS261 |
|
| Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain |
ATS093 |
|
| Autosomal Dominant Leukodystrophy with Autonomic Disease |
ATS309 |
ADLD |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
ATS330 |
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c |
ATS247 |
|
| Autosomal Dominant Macrothrombocytopenia |
ATS208 |
|
| Autosomal Dominant Medullary Cystic Kidney Disease with Hyperuricemia |
ATS139 |
MCKD2 |
| Autosomal Dominant Medullary Cystic Kidney Disease Without Hyperuricemia |
ATS349 |
MCKD1 |
| Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency |
ATS105 |
|
| Autosomal Dominant Microcephaly |
ATS004 |
|
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
ATS292 |
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
ATS011 |
ENFL |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 |
ATS327 |
ENFL2 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
ATS203 |
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
ATS251 |
|
| Autosomal Dominant Nonsyndromic Deafness |
ATS005 |
|
| Autosomal Dominant Nonsyndromic Deafness 12 |
ATS340 |
DFNA8 |
| Autosomal Dominant Nonsyndromic Deafness 20 |
ATS341 |
|
| Autosomal Dominant Nonsyndromic Deafness 6 |
ATS342 |
DFNA6 |
| Autosomal Dominant Nonsyndromic Deafness 66 |
ATS343 |
DFNA66 |
| Autosomal Dominant Nonsyndromic Deafness 68 |
ATS344 |
DFNA68 |
| Autosomal Dominant Nonsyndromic Deafness 69 |
ATS345 |
DCUA |
| Autosomal Dominant Nonsyndromic Deafness 70 |
ATS346 |
DFNA70 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
ATS069 |
DOA |
| Autosomal Dominant Optic Atrophy, Classic Form |
ATS300 |
|
| 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 Robinow Syndrome |
ATS082 |
|
| Autosomal Dominant Robinow Syndrome 3 |
ATS328 |
DRS3 |
| Autosomal Dominant Secondary Polycythemia |
ATS209 |
|
| Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related |
ATS311 |
FJHN2 |
| Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related |
ATS312 |
|
| Autosomal Genetic Disease |
ATS009 |
|
| Autosomal Recessive Ataxia Due to Pex10 Deficiency |
ATS074 |
|
| Autosomal Recessive Cerebellar Ataxia |
ATS307 |
|
| Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity |
ATS112 |
|
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Tud Deficiency |
ATS195 |
SCAR23 |
| Autosomal Recessive Cerebral Atrophy |
ATS179 |
|
| Autosomal Recessive Charcot Marie Tooth Disease Type 2x |
ATS352 |
|
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
ATS314 |
|
| Autosomal Recessive Congenital Ichthyosis |
ATS013 |
CIE |
| Autosomal Recessive Congenital Stationary Night Blindness |
ATS169 |
|
| Autosomal Recessive Disease |
ATS010 |
|
| Autosomal Recessive Hypophosphatemic Rickets |
ATS239 |
ARHR |
| Autosomal Recessive Infantile Hypercalcemia |
ATS125 |
|
| Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
ATS274 |
|
| Autosomal Recessive Isolated Optic Atrophy |
ATS326 |
|
| Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis |
ATS028 |
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
ATS331 |
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
ATS298 |
LGMD3 |
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
ATS297 |
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
ATS280 |
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
ATS332 |
LGMD2W |
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
ATS333 |
LGMD2X |
| Autosomal Recessive Lymphoproliferative Disease |
ATS229 |
|
| Autosomal Recessive Malignant Osteopetrosis |
ATS282 |
|
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita |
ATS109 |
|
| Autosomal Recessive Myosclerosis Myopathy |
ATS058 |
|
| Autosomal Recessive Non-Syndromic Intellectual Disability |
ATS204 |
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
ATS252 |
|
| Autosomal Recessive Nonsyndromic Deafness |
ATS006 |
|
| Autosomal Recessive Nonsyndromic Deafness 105 |
ATS335 |
DFNB105 |
| Autosomal Recessive Nonsyndromic Deafness 3 |
ATS336 |
DFNB3 |
| Autosomal Recessive Nonsyndromic Deafness 47 |
ATS337 |
|
| Autosomal Recessive Nonsyndromic Deafness 8 |
ATS338 |
DFNB8 |
| Autosomal Recessive Nonsyndromic Deafness 97 |
ATS339 |
DFNB97 |
| Autosomal Recessive Primary Microcephaly |
ATS275 |
MCPH |
| Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia |
ATS030 |
|
| Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency |
ATS244 |
|
| Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency |
ATS245 |
|
| Autosomal Recessive Sideroblastic Anemia |
ATS210 |
ARSA |
| 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 68 |
ATS186 |
SPG68 |
| 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 Semi-Dominant Severe Lipodystrophic Laminopathy |
ATS285 |
|
| Autosomal Thrombocytopenia with Normal Platelets |
ATS205 |
|
| Avascular Necrosis of the Femoral Head |
AVS004 |
ANFH |
| Avian Influenza |
AVN001 |
|
| Avoidant Personality Disorder |
AVD001 |
|
| Axenfeld-Rieger Syndrome, Type 1 |
AXN009 |
RIEG1 |
| Axenfeld-Rieger Syndrome, Type 3 |
AXN010 |
RIEG3 |
| Axial Osteomalacia |
AXL003 |
|
| Axillary Adenitis |
AXL002 |
|
| Axillary Lipoma |
AXL001 |
|
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
AXN008 |
|
| Axonal Neuropathy |
AXN001 |
|
| Ayme-Gripp Syndrome |
AYM001 |
AYGRP |
| Azathioprine or 6-Mercatopurine Toxicity or Dose Selection |
AZT004 |
|
| Azoospermia |
AZS001 |
|
