| 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
|
|
| Abacavir Toxicity
|
ABC017
|
|
| Abcd Syndrome
|
ABC001
|
ABCDS
|
| Abderhalden Kaufmann Lignac Syndrome
|
ABD005
|
|
| 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 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
|
|
| Abruzzo-Erickson Syndrome
|
ABR009
|
ABERS
|
| Absence of Fingerprints Congenital Milia
|
ABS001
|
|
| Absence of Innominate Vein
|
ABS017
|
|
| Absence of Septum Pellucidum
|
ABS003
|
|
| Absence of the Pulmonary Artery
|
ABS016
|
|
| Absence of Tibia with Polydactyly
|
ABS005
|
|
| Absent Breasts and Nipples
|
ABS006
|
|
| Absent Eyebrows and Eyelashes with Mental Retardation
|
ABS020
|
|
| Absent Patella
|
ABS007
|
PTLAH
|
| Acalculous Cholecystitis
|
ACL001
|
|
| Acalvaria
|
ACL002
|
|
| Acanthamoeba Keratitis
|
ACN019
|
|
| Acanthocephaliasis
|
ACN005
|
|
| Acanthocheilonemiasis
|
ACN013
|
|
| 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-Carnitine Deficiency
|
ACT090
|
|
| 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
|
|
| Acinic Cell Breast Carcinoma
|
ACN006
|
|
| Acitretin Embryopathy
|
ACT091
|
|
| Acitretin/etretinate Embryopathy
|
ACT206
|
|
| Ackerman Syndrome
|
ACK001
|
|
| 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 Alimentary Behavior Disorder of Infancy
|
ACQ055
|
|
| 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 Hyperkeratosis
|
ACQ008
|
|
| Acquired Immunodeficiency Syndrome
|
ACQ007
|
AIDS
|
| Acquired Kinky Hair Syndrome
|
ACQ032
|
|
| 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
|
| Acrocephalopolydactyly
|
ACR026
|
|
| 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
|
|
| Acroosteolysis Dominant Type
|
ACR044
|
|
| Acropectoral Syndrome
|
ACR019
|
ACRPS
|
| Acro-Pectoro-Renal Field Defect
|
ACR045
|
|
| Acropectorovertebral Dysplasia
|
ACR020
|
ACRPV
|
| Acropectorovertebral Dysplasia F Form
|
ACR046
|
ACRPV
|
| Acrorenal Syndrome
|
ACR072
|
|
| Acrorenal Syndrome Recessive
|
ACR048
|
|
| Acrorenal Syndrome, Autosomal Recessive
|
ACR115
|
|
| Acrorenal-Mandibular Syndrome
|
ACR102
|
ARUMS
|
| Acrospiroma
|
ACR049
|
|
| Acsl4-Related Intellectual Disability
|
ACS002
|
|
| 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 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 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 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 Leukemia of Ambiguous Lineage
|
ACT216
|
BAL
|
| Acute Liver Failure
|
ACT134
|
|
| Acute Lymphoblastic Leukemia Congenital Sporadic Aniridia
|
ACT102
|
|
| Acute Macular Neuroretinopathy
|
ACT235
|
AMNR
|
| Acute Maxillary Sinusitis
|
ACT059
|
|
| Acute Megakaryoblastic Leukemia in Down Syndrome
|
ACT186
|
|
| Acute Megakaryoblastic Leukemia Without Down Syndrome
|
ACT165
|
|
| Acute Monoblastic Leukemia
|
ACT200
|
|
| 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 Myocardial Infarction
|
ACT075
|
|
| Acute Myocarditis
|
ACT076
|
|
| Acute Necrotizing Encephalitis
|
ACT064
|
|
| Acute Necrotizing Encephalopathy
|
ACT232
|
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 Respiratory Coronavirus Infection
|
ACT227
|
|
| Acute Respiratory Distress Syndrome
|
ACT210
|
ALI
|
| 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 T Cell Leukemia
|
ACT020
|
|
| Acute Thyroiditis
|
ACT053
|
|
| Acute Transverse Myelitis
|
ACT159
|
|
| Acute Tricyclic Antidepressant Poisoning
|
ACT172
|
|
| Acute Tympanitis
|
ACT001
|
|
| Acute Vascular Insufficiency of Intestine
|
ACT060
|
|
| Acute Zonal Occult Outer Retinopathy
|
ACT120
|
AZOOR
|
| Acylase, Cobalt-Activated
|
ACY008
|
|
| 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-Related Dyskinesia
|
ADC005
|
FDFM
|
| 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 Cystic Carcinoma of the Corpus Uteri
|
ADN060
|
|
| 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 Monophosphate Deaminase 1 Deficiency
|
ADN029
|
MMDD
|
| 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
|
|
| 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 Syndrome
|
ADN078
|
HVDAS
|
| 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 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 Mesoblastic Nephroma
|
ADL014
|
MEST
|
| 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 Polyglucosan Body Disease
|
ADL060
|
APBD
|
| Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type
|
ADL062
|
|
| Adult Pulmonary Langerhans Cell Histiocytosis
|
ADL082
|
|
| Adult Respiratory Distress Syndrome
|
ADL010
|
ARDS
|
| 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 Non-Insulinoma Persistent Hyperinsulinemic Hypoglycemia
|
ADL070
|
|
| 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
|
AFB001
|
|
| 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 and Aplasia of Uterine Body
|
AGN009
|
|
| Agenesis of Cerebral White Matter
|
AGN015
|
|
| 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 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
|
|
| Aicar Transformylase/imp Cyclohydrolase Deficiency
|
ACR118
|
AICAR
|
| 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
|
| Aids - Neurological Complications
|
ADS006
|
|
| Aids Dementia Complex
|
ADS004
|
ADC
|
| Aids Dysmorphic Syndrome
|
ADS005
|
|
| Aids Phobia
|
ADS003
|
|
| Aids Wasting Syndrome
|
ADS015
|
|
| Ainhum
|
ANH001
|
|
| Aip-Related Familial Isolated Pituitary Adenomas
|
APR002
|
|
| Airway-Centered Interstitial Fibrosis
|
ARW003
|
|
| 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, Minimal Pigment Type
|
ALB006
|
|
| Albinism, Ocular, Type I
|
ALB024
|
OA1
|
| Albinism, Ocular, with Late-Onset Sensorineural Deafness
|
ALB025
|
OASD
|
| Albinism, Ocular, with Sensorineural Deafness
|
ALB023
|
WS2-OA
|
| 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 Mast Cell Leukemia
|
ALK014
|
|
| 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
|
|
| 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 Encephalomyelitis
|
ALL014
|
|
| Allergic Hypersensitivity Disease
|
ALL026
|
|
| Allergic Rhinitis
|
ALL003
|
ALRH
|
| Allergic Urticaria
|
ALL007
|
|
| Allescheriosis
|
ALL004
|
|
| Allopurinol Toxicity
|
ALL025
|
|
| 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, Epilepsy, Pyorrhea, Mental Subnormality
|
ALP025
|
|
| 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 1
|
ALP076
|
APMR1
|
| Alopecia-Mental Retardation Syndrome 2
|
ALP075
|
APMR2
|
| Alopecia-Mental Retardation Syndrome 3
|
ALP063
|
APMR3
|
| 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-Mannosidosis, Adult Form
|
ALP056
|
|
| Alpha-Mannosidosis, Infantile Form
|
ALP055
|
|
| 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
|
TBMN
|
| Alport Syndrome 1, X-Linked
|
ALP106
|
ATS1
|
| Alport Syndrome 2, Autosomal Recessive
|
ALP105
|
ATS2
|
| Alport Syndrome 3, Autosomal Dominant
|
ALP104
|
ATS3
|
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
|
ALP085
|
|
| 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
|
ALV006
|
|
| 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 Without Neurofibrillary Tangles
|
ALZ051
|
|
| 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
|
|
| 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, Autosomal Recessive
|
AML053
|
|
| Ameloblastic Carcinoma
|
AML004
|
|
| Ameloblastoma
|
AML029
|
AOT
|
| 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
|
|
| Amniotic Band Syndrome
|
AMN009
|
|
| Amobarbital, Deficient N-Hydroxylation of
|
AMB006
|
|
| Amodiaquine Allergy
|
AMD001
|
|
| Amoebiasis Due to Free-Living Amoebae
|
AMB005
|
|
| 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 Nodular Localized Cutaneous
|
AMY014
|
NLCA
|
| Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability
|
AMY096
|
|
| 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
|
AMY062
|
ALS12
|
| Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia
|
AMY107
|
ALS14
|
| Amyotrophic Lateral Sclerosis 15 with or Without Frontotemporal Dementia
|
AMY104
|
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 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 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 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 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
|
| 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 or Dilatation of Ascending Aorta
|
ANR037
|
|
| Aneurysm, Intracranial Berry, 1
|
ANR027
|
ANIB1
|
| Aneurysm, Intracranial Berry, 10
|
ANR025
|
ANIB10
|
| Aneurysm, Intracranial Berry, 11
|
ANR039
|
ANIB11
|
| 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 Renal Agenesis Psychomotor Retardation
|
ANR016
|
|
| 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 Vertebral Hyperostosis with Tylosis
|
ANK015
|
|
| Ankylosis
|
ANK001
|
|
| Ankylostomiasis
|
ANK010
|
|
| 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 Manifestation
|
ANT092
|
|
| 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
|
|
| Anterior Uveitis
|
ANT034
|
|
| Anterograde Amnesia
|
ANT019
|
|
| Anterolateral Myocardial Infarction
|
ANT001
|
|
| Anteroseptal Myocardial Infarction
|
ANT005
|
|
| Anthracosilicosis
|
ANT017
|
|
| Anthracosis
|
ANT018
|
|
| Anthracycline Extravasation
|
ANT076
|
|
| Anthrax Disease
|
ANT024
|
|
| Anti-Basement Membrane Glomerulonephritis
|
ANT002
|
|
| Antidepressant or Antipsychotic Toxicity or Dose Selection
|
ANT064
|
|
| Antidepressant Type Abuse
|
ANT016
|
|
| Antigen Defined by Monoclonal Antibody Aj9
|
ANT080
|
MSK1
|
| Antigen Defined by Monoclonal Antibody T87
|
ANT081
|
MSK2
|
| 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
|
|
| Anti-Plasmin Deficiency, Congenital
|
ANT038
|
|
| 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 Coarctation
|
ART031
|
|
| Aortic Disease
|
ART017
|
|
| 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
|
APL006
|
|
| 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
|
|
| Apoe P.leu167del-Related Lipid Disorders
|
APP012
|
|
| 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
|
|
| Aquagenic Pruritus
|
AQG001
|
|
| Aquagenic Syringeal Acrokeratoderma
|
AQG004
|
|
| Aqueous Misdirection
|
AQS001
|
|
| Arachnodactyly - Intellectual Disability - Dysmorphism
|
ARC019
|
|
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
|
ARC020
|
|
| Arachnoid Cysts
|
ARC007
|
|
| Arachnoid Cysts, Intracranial
|
ARC025
|
|
| Arachnoiditis
|
ARC002
|
|
| Arbitrary Restriction Polymorphism 1
|
ARB004
|
ARP1
|
| Arbovirosis
|
ARB003
|
|
| Arcus Corneae
|
ARC023
|
|
| Aredyld
|
ARD001
|
|
| Aregenerative Anemia
|
ARG006
|
|
| Arena Syndrome
|
ARN001
|
|
| Argentine Hemorrhagic Fever
|
ARG001
|
|
| Argininemia
|
ARG007
|
ARGIN
|
| Argininosuccinic Aciduria
|
ARG002
|
ARGINSA
|
| Argyll Robertson Pupil
|
ARG003
|
|
| Argyria
|
ARG004
|
|
| Arhinia Choanal Atresia Microphthalmia
|
ARH001
|
|
| Ariboflavinosis
|
ARB001
|
|
| Arid1b-Related Disorder
|
ARD005
|
|
| Arima Syndrome
|
ARM010
|
|
| Arm Folding Preference
|
ARM007
|
|
| Armfield X-Linked Mental Retardation Syndrome
|
ARM006
|
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, 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 Cns Calcification
|
ART043
|
|
| Arthrogryposis Multiplex Congenita Whistling Face
|
ART048
|
|
| Arthrogryposis Multiplex Congenita, Myogenic Type
|
ART158
|
AMCM
|
| Arthrogryposis Multiplex Congenita, Neurogenic Type
|
ART127
|
AMCN
|
| Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect
|
ART137
|
AMCNMY
|
| Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
|
ART051
|
|
| Arthrogryposis Spinal Muscular Atrophy
|
ART053
|
|
| 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 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 Hypopituitarism, Mental Retardation, and Facial Anomalies
|
ART055
|
|
| 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
|
| Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness
|
ART057
|
DA6
|
| Arthropathy
|
ART023
|
|
| Arthropathy, Erosive
|
ART077
|
|
| Arthropathy, Progressive Pseudorheumatoid, of Childhood
|
ART116
|
PPAC
|
| 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
|
|
| Arx-Related Intellectual Disability
|
ARX002
|
|
| 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
|
|
| Asplenia, Isolated Congenital
|
ASP026
|
ICAS
|
| Asrar Facharzt Haque Syndrome
|
ASR001
|
|
| Associative Agnosia
|
ASS001
|
|
| Astereognosia
|
AST004
|
|
| Asternia
|
AST008
|
|
| Asternia with Cardiac, Diaphragmatic, and Abdominal Defects
|
AST009
|
|
| Asthenopia
|
AST003
|
|
| 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
|
|
| Astrocytoma
|
AST007
|
|
| 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
|
| 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 Pierini and Pasini
|
ATR020
|
|
| Atrophoderma Vermiculata
|
ATR054
|
AVA
|
| Atrophy of Prostate
|
ATR008
|
|
| Atrophy of Testis
|
ATR009
|
|
| Atr-X-Related Syndrome
|
ATR094
|
|
| 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 B Factor Anomaly
|
ATY047
|
|
| Atypical Hemolytic Uremic Syndrome with C3 Anomaly
|
ATY049
|
|
| Atypical Hemolytic Uremic Syndrome with Complement Gene Abnormality
|
ATY045
|
|
| Atypical Hemolytic Uremic Syndrome with H Factor Anomaly
|
ATY048
|
|
| Atypical Hemolytic Uremic Syndrome with I Factor Anomaly
|
ATY051
|
|
| Atypical Hemolytic Uremic Syndrome with Mcp/cd46 Anomaly
|
ATY050
|
|
| Atypical Hemolytic Uremic Syndrome with Thrombomodulin Anomaly
|
ATY044
|
|
| 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 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 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
|
|
| Auricular Cancer
|
ARC003
|
|
| 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 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 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 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 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 Due to Ctla4 Haploinsuffiency
|
ATM087
|
CHAI
|
| 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 Progesterone Dermatitis
|
ATM026
|
APD
|
| 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 Infantile Enterocolitis
|
ATN011
|
AIFEC
|
| Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated
|
ATN016
|
APLAID
|
| 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 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 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 Intellectual Disability 49
|
ATS410
|
|
| 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 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 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 Non-Syndromic Intellectual Disability
|
ATS203
|
|
| Autosomal Dominant Non-Syndromic Intellectual Disability 1
|
ATS383
|
MRD1
|
| Autosomal Dominant Non-Syndromic Intellectual Disability 19
|
ATS417
|
MRD19
|
| Autosomal Dominant Non-Syndromic Intellectual Disability 2
|
ATS384
|
MRD2
|
| Autosomal Dominant Non-Syndromic Intellectual Disability 27
|
ATS422
|
MRD27
|
| 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 Intellectual Disability 9
|
ATS390
|
MRD9
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna
|
ATS251
|
|
| Autosomal Dominant Optic Atrophy and Peripheral Neuropathy
|
ATS077
|
|
| Autosomal Dominant Optic Atrophy Plus Syndrome
|
ATS069
|
DOA+
|
| 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 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 Tubulointerstitial Kidney Disease
|
ATS382
|
MCKD
|
| Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations
|
ATS419
|
MCKD1
|
| Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations
|
ATS404
|
|
| Autosomal Dominant Tubulointerstitial Kidney Disease Due to Umod Mutations
|
ATS420
|
FJHN
|
| Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related
|
ATS310
|
MCKD1
|
| Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related
|
ATS311
|
FJHN2
|
| Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related
|
ATS312
|
|
| Autosomal Dominant Wolfram Syndrome
|
ATS423
|
|
| 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 Anterior Segment Dysgenesis
|
ATS413
|
|
| 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 Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction
|
ATS405
|
|
| 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 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 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 Metabolic Cerebellar Ataxia
|
ATS458
|
|
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
|
ATS109
|
|
| 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 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 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
|
| Azathioprine or 6-Mercatopurine Toxicity or Dose Selection
|
AZT004
|
|
| Azoospermia
|
AZS001
|
|
| Azotemia, Familial
|
AZT005
|
|
| Aztreonam Allergy
|
AZT006
|
|
| Azygos Continuation of the Inferior Vena Cava
|
AZY001
|
|
