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
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