| Disease Name |
Symbol |
Acronym |
| Aapoai Amyloidosis
|
APM002
|
|
| Aapoaii Amyloidosis
|
APM001
|
|
| Aarskog-Scott Syndrome
|
ARS001
|
AAS
|
| Abacavir Toxicity
|
ABC017
|
|
| Abca1-Associated Familial High Density Lipoprotein Deficiency
|
ABC003
|
|
| Abca1-Related Disorders
|
ABC004
|
|
| Abca12-Related Autosomal Recessive Congenital Ichthyosis
|
ABC002
|
|
| Abca3-Related Pulmonary Surfactant Metabolism Dysfunction
|
ABC006
|
|
| Abca4-Related Retinitis Pigmentosa
|
ABC007
|
RP19
|
| Abca4-Related Stargardt Disease 1
|
ABC008
|
|
| Abcb1-Related Altered Drug Metabolism
|
ABC018
|
MDR1
|
| Abcb11-Related Intrahepatic Cholestasis
|
ABC009
|
|
| Abcc2-Related Altered Drug Metabolism
|
ABC019
|
MRP2
|
| Abcc4-Related Altered Drug Metabolism
|
ABC020
|
MRP4
|
| Abcc8-Related Hyperinsulinism
|
ABC010
|
|
| Abcc8-Related Permanent Neonatal Diabetes Mellitus
|
ABC011
|
|
| Abcc8-Related Transient Neonatal Diabetes Mellitus 2
|
ABC012
|
TNDM2
|
| Abcc9-Related Dilated Cardiomyopathy
|
ABC013
|
|
| Abcc9-Related Familial Atrial Fibrillation
|
ABC015
|
|
| Abcd Syndrome
|
ABC001
|
ABCDS
|
| Abdominal Aortic Aneurysm
|
ABD003
|
|
| Abdominal Obesity-Metabolic Syndrome
|
ABD016
|
AOMS1
|
| Abdominal Obesity-Metabolic Syndrome 1
|
ABD014
|
|
| Abdominal Obesity-Metabolic Syndrome 3
|
ABD013
|
AOMS3
|
| Abdominal Tuberculosis
|
ABD004
|
|
| Abdominal Wall Defect
|
ABD010
|
|
| Abetalipoproteinemia
|
ABT001
|
ABL
|
| Abidi X-Linked Mental Retardation Syndrome
|
ABD008
|
|
| Abl1 Kd-Related Altered Drug Metabolism
|
ABL003
|
|
| Ablepharon-Macrostomia Syndrome
|
ABL002
|
AMS
|
| Abnormal Retinal Correspondence
|
ABN001
|
|
| Abnormality of Glucagon Secretion
|
ABN002
|
|
| Abruzzo-Erickson Syndrome
|
ABR009
|
ABERS
|
| Absence of Fingerprints Congenital Milia
|
ABS001
|
|
| Acalculous Cholecystitis
|
ACL001
|
|
| Acanthamoeba Keratitis
|
ACN019
|
|
| Acanthocephaliasis
|
ACN005
|
|
| Acanthoma
|
ACN010
|
|
| Acanthosis Nigricans
|
ACN002
|
AN
|
| Acat2 Deficiency
|
ACT085
|
|
| Acatalasemia
|
ACT209
|
ACATLAS
|
| Accelerated Tumor Formation
|
ACC008
|
|
| Accommodative Esotropia
|
ACC003
|
|
| Accommodative Spasm
|
ACC002
|
|
| Acd-Related Dyskeratosis Congenita
|
ACD010
|
DKCA6
|
| Acdc
|
ACD004
|
ACDC
|
| Aceruloplasminemia
|
ACR006
|
|
| Acetyl-Coa Carboxylase Deficiency
|
ACT086
|
ACACAD
|
| Acetyl-Coa Carboxylase-Beta Deficiency
|
ACT218
|
|
| Achalasia
|
ACH005
|
|
| Achalasia-Addisonianism-Alacrimia Syndrome
|
ACH037
|
AAAS
|
| Achalasia, Familial Esophageal
|
ACH015
|
|
| Acheiropody
|
ACH001
|
ACHP
|
| Achondrogenesis
|
ACH011
|
|
| Achondrogenesis Ib
|
ACH035
|
ACG1B
|
| Achondrogenesis, Type Ia
|
ACH033
|
ACG1A
|
| Achondrogenesis, Type Ii or Hypochondrogenesis
|
ACH032
|
ACG2
|
| Achondroplasia
|
ACH004
|
ACH
|
| Achromatopsia
|
ACH003
|
ACHM
|
| Achromatopsia 5
|
ACH024
|
|
| Achromatopsia 7
|
ACH038
|
ACHM7
|
| Achromatopsia-2
|
ACH034
|
ACHM2
|
| Achromatopsia-3
|
ACH036
|
ACHM3
|
| Achromatopsia-4
|
ACH025
|
ACHM4
|
| Acid Sphingomyelinase Deficiency
|
ACD003
|
|
| Acid-Labile Subunit, Deficiency of
|
ACD009
|
ACLSD
|
| Acidophil Adenoma
|
ACD001
|
|
| Acinar Cell Carcinoma
|
ACN001
|
|
| Acinar Cell Cystadenocarcinoma
|
ACN007
|
|
| Acne
|
ACN011
|
ACNE
|
| Acne Inversa, Familial, 1
|
ACN018
|
ACNINV1
|
| Acne Inversa, Familial, 2
|
ACN017
|
ACNINV2
|
| Acne Inversa, Familial, 3
|
ACN016
|
ACNINV3
|
| Acneiform Dermatitis
|
ACN003
|
|
| Acoustic Neuroma
|
ACS001
|
|
| Acquired Amegakaryocytic Thrombocytopenia
|
ACQ041
|
AAT
|
| Acquired Angioedema
|
ACQ012
|
|
| Acquired Cutis Laxa
|
ACQ027
|
|
| Acquired Generalized Lipodystrophy
|
ACQ022
|
|
| Acquired Hemangioma
|
ACQ004
|
|
| Acquired Hemophilia
|
ACQ014
|
|
| Acquired Hemophilia a
|
ACQ042
|
|
| Acquired Idiopathic Sideroblastic Anemia
|
ACQ031
|
AISA
|
| Acquired Immunodeficiency Syndrome
|
ACQ007
|
AIDS
|
| Acquired Metabolic Disease
|
ACQ009
|
|
| Acquired Methemoglobinemia
|
ACQ047
|
|
| Acquired Polycythemia
|
ACQ010
|
|
| Acquired Pseudoxanthoma Elasticum
|
ACQ026
|
|
| Acquired Thrombocytopenia
|
ACQ005
|
|
| Acquired Von Willebrand Syndrome
|
ACQ017
|
|
| Acral Dystrophic Epidermolysis Bullosa
|
ACR075
|
|
| Acral Lentiginous Melanoma
|
ACR014
|
ALM
|
| Acral Self-Healing Collodion Baby
|
ACR078
|
|
| Acro-Renal-Ocular Syndrome
|
ACR059
|
|
| Acrocallosal Syndrome
|
ACR008
|
ACLS
|
| Acrocapitofemoral Dysplasia
|
ACR002
|
ACFD
|
| Acrodermatitis
|
ACR005
|
|
| Acrodermatitis Chronica Atrophicans
|
ACR097
|
|
| Acrodermatitis Continua Suppurativa of Hallopeau
|
ACR068
|
|
| Acrodermatitis Enteropathica
|
ACR003
|
AEZ
|
| Acrodysostosis
|
ACR013
|
|
| Acrodysostosis 1, with or Without Hormone Resistance
|
ACR066
|
ACRDYS1
|
| Acrodysostosis 2, with or Without Hormone Resistance
|
ACR067
|
ACRDYS2
|
| Acrodysostosis with Multiple Hormone Resistance
|
ACR079
|
|
| Acrofacial Dysostosis
|
ACR017
|
|
| Acrofacial Dysostosis 1, Nager Type
|
ACR058
|
AFD1
|
| Acrofacial Dysostosis Syndrome of Rodriguez
|
ACR104
|
|
| Acrofacial Dysostosis, Cincinnati Type
|
ACR095
|
AFDCIN
|
| Acrofrontofacionasal Dysostosis
|
ACR093
|
|
| Acrogeria, Gottron Type
|
ACR034
|
|
| Acrokeratosis Verruciformis
|
ACR004
|
AKV
|
| Acromegaloid Facial Appearance Syndrome
|
ACR037
|
|
| Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
|
ACR089
|
AOCH
|
| Acromegaloid Hypertrichosis Syndrome
|
ACR039
|
HAFF
|
| Acromegaly
|
ACR007
|
|
| Acromelic Frontonasal Dysostosis
|
ACR041
|
AFND
|
| Acromesomelic Dysplasia
|
ACR016
|
|
| Acromesomelic Dysplasia, Demirhan Type
|
ACR096
|
AMDD
|
| Acromesomelic Dysplasia, Hunter-Thompson Type
|
ACR009
|
AMDH
|
| Acromesomelic Dysplasia, Maroteaux Type
|
ACR011
|
AMDM
|
| Acromicric Dysplasia
|
ACR043
|
ACMICD
|
| Acroosteolysis Dominant Type
|
ACR044
|
|
| Acropectoral Syndrome
|
ACR019
|
ACRPS
|
| Acropectorovertebral Dysplasia
|
ACR020
|
|
| Acrorenal Syndrome
|
ACR072
|
|
| Acrospiroma
|
ACR049
|
|
| Acta1-Related Congenital Fiber-Type Disproportion
|
ACT121
|
|
| Acta1-Related Nemaline Myopathy
|
ACT122
|
NEM3
|
| Acta2-Related Thoracic Aortic Aneurysms and Aortic Dissections
|
ACT123
|
AAT6
|
| Actc1-Related Dilated Cardiomyopathy
|
ACT124
|
|
| Actc1-Related Familial Hypertrophic Cardiomyopathy
|
ACT125
|
|
| Actg2-Related Disorders
|
ACT215
|
|
| Acth Deficiency
|
ACT087
|
|
| Acth-Independent Macronodular Adrenal Hyperplasia
|
ACT092
|
AIMAH1
|
| Acth-Independent Macronodular Adrenal Hyperplasia 2
|
ACT202
|
AIMAH2
|
| Actin-Accumulation Myopathy
|
ACT130
|
|
| Actinic Cheilitis
|
ACT093
|
|
| Actinic Keratosis
|
ACT008
|
|
| Actinobacillosis
|
ACT016
|
|
| Actinomycosis
|
ACT055
|
BOIL
|
| Active Peptic Ulcer Disease
|
ACT058
|
|
| Actn2-Related Dilated Cardiomyopathy
|
ACT126
|
|
| Actn2-Related Familial Hypertrophic Cardiomyopathy
|
ACT127
|
|
| Acute Adrenal Insufficiency
|
ACT150
|
|
| Acute Anterolateral Myocardial Infarction
|
ACT052
|
|
| Acute Apical Periodontitis
|
ACT046
|
|
| Acute Basophilic Leukemia
|
ACT177
|
|
| Acute Biphenotypic Leukemia
|
ACT095
|
|
| Acute Cervicitis
|
ACT066
|
|
| Acute Chest Syndrome
|
ACT017
|
|
| Acute Cholangitis
|
ACT036
|
|
| Acute Closed-Angle Glaucoma
|
ACT028
|
|
| Acute Conjunctivitis
|
ACT067
|
|
| Acute Contagious Conjunctivitis
|
ACT011
|
|
| Acute Cor Pulmonale
|
ACT056
|
|
| Acute Cystitis
|
ACT068
|
|
| Acute Dacryoadenitis
|
ACT030
|
|
| Acute Dacryocystitis
|
ACT037
|
|
| Acute Diarrhea
|
ACT004
|
|
| Acute Diffuse Nephritis
|
ACT041
|
|
| Acute Disseminated Encephalomyelitis
|
ACT049
|
ADE
|
| Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion
|
ACT191
|
AESD
|
| Acute Endometritis
|
ACT069
|
|
| Acute Endophthalmitis
|
ACT047
|
|
| Acute Erythroid Leukemia
|
ACT098
|
|
| Acute Frontal Sinusitis
|
ACT035
|
|
| Acute Generalized Exanthematous Pustulosis
|
ACT167
|
AGEP
|
| Acute Gonococcal Salpingitis
|
ACT023
|
|
| Acute Graft Versus Host Disease
|
ACT135
|
|
| Acute Hemorrhagic Conjunctivitis
|
ACT012
|
|
| Acute Hemorrhagic Encephalitis
|
ACT065
|
|
| Acute Hemorrhagic Leukoencephalitis
|
ACT032
|
AHL
|
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
|
ACT233
|
SCAR21
|
| Acute Inferolateral Myocardial Infarction
|
ACT051
|
|
| Acute Inflammation of Lacrimal Passage
|
ACT070
|
|
| Acute Insulin Response
|
ACT088
|
|
| Acute Interstitial Pneumonia
|
ACT029
|
AIP
|
| Acute Kidney Failure
|
ACT071
|
|
| Acute Kidney Tubular Necrosis
|
ACT003
|
|
| Acute Laryngitis
|
ACT072
|
|
| Acute Leukemia
|
ACT073
|
|
| Acute Leukemia of Ambiguous Lineage
|
ACT216
|
BAL
|
| Acute Liver Failure
|
ACT134
|
|
| Acute Lymphoblastic Leukemia, Childhood
|
ACT103
|
|
| Acute Lymphocytic Leukemia
|
ACT074
|
|
| Acute Maxillary Sinusitis
|
ACT059
|
|
| Acute Megakaryoblastic Leukemia in Down Syndrome
|
ACT186
|
|
| Acute Megakaryoblastic Leukemia Without Down Syndrome
|
ACT165
|
|
| Acute Monoblastic Leukemia
|
ACT200
|
|
| Acute Monocytic Leukemia
|
ACT009
|
|
| Acute Mountain Sickness
|
ACT105
|
|
| Acute Myeloblastic Leukemia with Maturation
|
ACT113
|
|
| Acute Myeloblastic Leukemia Without Maturation
|
ACT114
|
|
| Acute Myeloid Leukemia with 11q23 Abnormalities
|
ACT179
|
|
| Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22)
|
ACT193
|
AMMOL
|
| Acute Myeloid Leukemia with Cebpa Somatic Mutations
|
ACT166
|
|
| Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2)
|
ACT196
|
|
| Acute Myeloid Leukemia with Minimal Differentiation
|
ACT234
|
|
| Acute Myeloid Leukemia with Npm1 Somatic Mutations
|
ACT199
|
|
| Acute Myeloid Leukemia with T(6;9)(p23;q34)
|
ACT198
|
|
| Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation
|
ACT190
|
|
| Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation
|
ACT194
|
|
| Acute Myeloid Leukemia with T(9;11)(p22;q23)
|
ACT195
|
|
| Acute Myeloid Leukemia, Flt3-Related
|
ACT219
|
AML
|
| Acute Myeloid Leukemia, Kit-Related
|
ACT220
|
|
| Acute Myeloid Leukemia, Somatic Dnmt3a-Related
|
ACT221
|
|
| Acute Myeloid Leukemia, Susceptibility, Gata2-Related
|
ACT157
|
|
| Acute Myocardial Infarction
|
ACT075
|
|
| Acute Myocarditis
|
ACT076
|
|
| Acute Necrotizing Encephalitis
|
ACT064
|
|
| Acute Necrotizing Encephalopathy
|
ACT232
|
ANE
|
| Acute Neonatal Citrullinemia Type I
|
ACT189
|
|
| Acute Non Lymphoblastic Leukemia
|
ACT118
|
|
| Acute Orbital Inflammation
|
ACT077
|
|
| Acute Pancreatitis
|
ACT027
|
|
| Acute Pericementitis
|
ACT062
|
|
| Acute Porphyria
|
ACT078
|
|
| Acute Poststreptococcal Glomerulonephritis
|
ACT040
|
|
| Acute Pre-B-Cell Lymphoblastic Leukemia
|
ACT222
|
|
| Acute Proliferative Glomerulonephritis
|
ACT079
|
|
| Acute Promyelocytic Leukemia Numa/rara Type
|
ACT223
|
|
| Acute Promyelocytic Leukemia Pml/rara Type
|
ACT224
|
|
| Acute Pulmonary Heart Disease
|
ACT080
|
|
| Acute Pyelonephritis
|
ACT042
|
|
| Acute Radiation Syndrome
|
ACT228
|
|
| Acute Respiratory Distress Syndrome
|
ACT210
|
ALI
|
| Acute Retinal Necrosis Syndrome
|
ACT022
|
|
| Acute Salpingitis
|
ACT081
|
|
| Acute Salpingo-Oophoritis
|
ACT031
|
|
| Acute Serous Otitis Media
|
ACT083
|
|
| Acute Stress Disorder
|
ACT084
|
|
| Acute T Cell Leukemia
|
ACT020
|
|
| Acute Thyroiditis
|
ACT053
|
|
| Acute Transverse Myelitis
|
ACT159
|
|
| Acute Tympanitis
|
ACT001
|
|
| Acute Vascular Insufficiency of Intestine
|
ACT060
|
|
| Acute Zonal Occult Outer Retinopathy
|
ACT120
|
AZOOR
|
| Acvr2b-Related Visceral Heterotaxy
|
ACV001
|
HTX4
|
| Acvrl1-Related Hereditary Hemorrhagic Telangiectasia
|
ACV002
|
HHT2
|
| Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of
|
ACY006
|
ACADMD
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of
|
ACY005
|
ACADSD
|
| Adamantinoid Basal Cell Epithelioma
|
ADM002
|
|
| Adamantinoma of Long Bones
|
ADM013
|
|
| Adamantinous Craniopharyngioma
|
ADM001
|
|
| Adams-Oliver Syndrome
|
ADM011
|
AOS
|
| Adams-Oliver Syndrome 1
|
ADM005
|
AOS1
|
| Adams-Oliver Syndrome 2
|
ADM007
|
AOS2
|
| Adams-Oliver Syndrome 3
|
ADM008
|
AOS3
|
| Adams-Oliver Syndrome 4
|
ADM009
|
AOS4
|
| Adams-Oliver Syndrome 5
|
ADM010
|
AOS5
|
| Adams-Oliver Syndrome 6
|
ADM012
|
AOS6
|
| Adamts10-Related Weill-Marchesani Syndrome
|
ADM006
|
|
| Adamtsl4-Related Eye Disorders
|
ADM003
|
|
| Adar-Related Aicardi-Goutieres Syndrome
|
ADR045
|
|
| Adcy5-Related Dyskinesia
|
ADC005
|
FDFM
|
| Addison's Disease
|
ADD001
|
|
| Adducted Thumbs Syndrome
|
ADD006
|
|
| Adenine Phosphoribosyltransferase Deficiency
|
ADN024
|
APRTD
|
| Adenocarcinoma
|
ADN016
|
|
| Adenocarcinoma in Situ
|
ADN012
|
|
| Adenofibroma
|
ADN017
|
|
| Adenohypophysitis
|
ADN064
|
|
| Adenoid Basal Cell Carcinoma
|
ADN015
|
|
| Adenoid Hypertrophy
|
ADN067
|
|
| Adenoid Squamous Cell Carcinoma
|
ADN013
|
|
| Adenoiditis
|
ADN002
|
|
| Adenoma
|
ADN018
|
|
| Adenoma of Pancreas
|
ADN072
|
|
| Adenomas, Multiple Colorectal
|
ADN040
|
FAP2
|
| Adenomas, Salivary Gland Pleomorphic
|
ADN038
|
|
| Adenomatoid Tumor
|
ADN014
|
|
| Adenomatous Polyposis Coli
|
ADN021
|
FAP
|
| Adenomyoma
|
ADN075
|
|
| Adenomyosis
|
ADN027
|
|
| Adenosarcoma
|
ADN020
|
|
| Adenosine Deaminase 2 Deficiency
|
ADN077
|
DADA2
|
| Adenosine Deaminase Deficiency
|
ADN001
|
ADA
|
| Adenosine Monophosphate Deaminase 1 Deficiency
|
ADN029
|
MMDD
|
| Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type
|
ADN069
|
AMPDDE
|
| Adenosine Triphosphate, Elevated, of Erythrocytes
|
ADN039
|
PKHYP
|
| Adenosquamous Carcinoma
|
ADN009
|
|
| Adenosquamous Cell Lung Carcinoma
|
ADN010
|
|
| Adenosquamous Gallbladder Carcinoma
|
ADN005
|
|
| Adenosquamous Pancreas Carcinoma
|
ADN008
|
|
| Adenosquamous Prostate Carcinoma
|
ADN007
|
|
| Adenylosuccinase Deficiency
|
ADN022
|
ADSLD
|
| Adermatoglyphia
|
ADR038
|
ADERM
|
| Adh1c-Related Parkinson Disease Susceptibility
|
ADH005
|
|
| Adhesions of Uterus
|
ADH001
|
|
| Adhesive Otitis Media
|
ADH006
|
|
| Adiaspiromycosis
|
ADS001
|
|
| Adie Pupil
|
ADP007
|
|
| Adiponectin Deficiency
|
ADP002
|
ADPND
|
| Adiposis Dolorosa
|
ADP001
|
|
| Adjustment Disorder
|
ADJ001
|
|
| Adnp Syndrome
|
ADN078
|
HVDAS
|
| Adnp-Related Intellectual Disability and Autism Spectrum Disorder
|
ADN076
|
|
| Adolescence-Adult Electroclinical Syndrome
|
ADL051
|
|
| Adolescent Idiopathic Scoliosis
|
ADL086
|
AIS
|
| Adolescent-Onset Dystonia of Mixed Type
|
ADL094
|
DYT6
|
| Adra2a-Related Altered Drug Metabolism
|
ADR046
|
|
| Adrenal Adenoma
|
ADR008
|
|
| Adrenal Carcinoma
|
ADR005
|
|
| Adrenal Cortex Disease
|
ADR009
|
|
| Adrenal Cortical Adenocarcinoma
|
ADR004
|
|
| Adrenal Cortical Adenoma
|
ADR041
|
|
| Adrenal Cortical Carcinoma
|
ADR016
|
ADCC
|
| Adrenal Cortical Hypofunction
|
ADR010
|
|
| Adrenal Gland Disease
|
ADR012
|
|
| Adrenal Gland Pheochromocytoma
|
ADR040
|
|
| Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency
|
ADR043
|
AH4
|
| Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency
|
ADR042
|
AH3
|
| Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism
|
ADR026
|
AHC
|
| Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete
|
ADR044
|
AICSR
|
| Adrenal Medulla Cancer
|
ADR014
|
|
| Adrenal Neuroblastoma
|
ADR003
|
|
| Adrenal Rest Tumor
|
ADR001
|
|
| Adrenocortical Insufficiency, Without Ovarian Defect
|
ADR037
|
ACIWOD
|
| Adrenocorticotropic Hormone Deficiency
|
ADR021
|
IAD
|
| Adrenoleukodystrophy
|
ADR007
|
ALD
|
| Adrenomyeloneuropathy
|
ADR022
|
AMN
|
| Adrenomyodystrophy
|
ADR023
|
AMD
|
| Adult Acute Lymphocytic Leukemia
|
ADL052
|
|
| Adult Astrocytic Tumour
|
ADL053
|
|
| Adult Dermatomyositis
|
ADL027
|
|
| Adult Fibrosarcoma
|
ADL019
|
|
| Adult Hepatocellular Carcinoma
|
ADL096
|
|
| Adult I Blood Group with or Without Congenital Cataract
|
ADL065
|
|
| Adult I Phenotype Without Cataract
|
ADL059
|
|
| Adult Krabbe Disease
|
ADL071
|
|
| Adult Lymphoma
|
ADL001
|
|
| Adult Malignant Schwannoma
|
ADL042
|
|
| Adult Medulloblastoma
|
ADL023
|
|
| Adult Mesoblastic Nephroma
|
ADL014
|
MEST
|
| Adult Neuronal Ceroid Lipofuscinosis
|
ADL066
|
ANCL
|
| Adult Oligodendroglioma
|
ADL008
|
|
| Adult Polyglucosan Body Disease
|
ADL060
|
APBD
|
| Adult Respiratory Distress Syndrome
|
ADL010
|
ARDS
|
| Adult Spinal Muscular Atrophy
|
ADL016
|
|
| Adult Syndrome
|
ADL002
|
ADULT SYNDROME
|
| Adult T-Cell Leukemia
|
ADL017
|
ATLL
|
| Adult Teratoma
|
ADL057
|
|
| Adult Xanthogranuloma
|
ADL037
|
|
| Adult-Onset Autosomal Recessive Sideroblastic Anemia
|
ADL088
|
|
| Adult-Onset Citrullinemia Type I
|
ADL083
|
|
| Adult-Onset Distal Myopathy Due to Vcp Mutation
|
ADL074
|
|
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due to Dguok Deficiency
|
ADL075
|
|
| Adult-Onset Myasthenia Gravis
|
ADL084
|
|
| Adult-Onset Still's Disease
|
ADL030
|
AOSD
|
| Advanced Sleep Phase Syndrome
|
ADV001
|
FASPS
|
| Advanced Sleep Phase Syndrome, Familial, 1
|
ADV003
|
FASPS1
|
| Advanced Sleep-Phase Syndrome, Familial, 2
|
ADV002
|
FASPS2
|
| Afferent Loop Syndrome
|
AFF001
|
|
| Afib Amyloidosis
|
AFB003
|
|
| Afibrinogenemia
|
AFB001
|
|
| Afibrinogenemia, Congenital
|
AFB002
|
CAFBN
|
| African Histoplasmosis
|
AFR001
|
|
| African Tick-Bite Fever
|
AFR002
|
|
| Agammaglobulinemia
|
AGM001
|
IGHM
|
| Agammaglobulinemia 1
|
AGM011
|
AGM1
|
| Agammaglobulinemia 2
|
AGM012
|
AGM2
|
| Agammaglobulinemia 3
|
AGM009
|
AGM3
|
| Agammaglobulinemia 4
|
AGM007
|
AGM4
|
| Agammaglobulinemia 5
|
AGM008
|
AGM5
|
| Agammaglobulinemia 6
|
AGM010
|
AGM6
|
| Agammaglobulinemia 7, Autosomal Recessive
|
AGM015
|
AGM7
|
| Agammaglobulinemia 8, Autosomal Dominant
|
AGM017
|
AGM8
|
| Agammaglobulinemia and Isolated Hormone Deficiency
|
AGM006
|
XLA-IGHD
|
| Agammaglobulinemia, Non-Bruton Type
|
AGM004
|
|
| Agammaglobulinemia, X-Linked 1
|
AGM005
|
XLA
|
| Agbl5-Related Retinitis Pigmentosa
|
AGB001
|
|
| Age-Related Hearing Impairment 1
|
AGR013
|
|
| Age-Related Hearing Impairment 2
|
AGR014
|
|
| Agenesis of the Corpus Callosum with Peripheral Neuropathy
|
AGN003
|
ACCPN
|
| Agenesis of the Dorsal Pancreas
|
AGN005
|
|
| Aggressive Digital Papillary Adenocarcinoma
|
AGG003
|
|
| Aggressive Periodontitis
|
AGG001
|
|
| Aggressive Systemic Mastocytosis
|
AGG002
|
ASM
|
| Agnathia-Otocephaly Complex
|
AGN012
|
AGOTC
|
| Agnosia
|
AGN002
|
|
| Agoraphobia
|
AGR002
|
|
| Agraphia
|
AGR018
|
|
| Agrn-Related Congenital Myasthenic Syndrome
|
AGR012
|
|
| Ahi1-Related Joubert Syndrome
|
AH1001
|
|
| Aica-Ribosiduria Due to Atic Deficiency
|
ACR021
|
AICAR
|
| Aicardi Syndrome
|
ACR012
|
AIC
|
| Aicardi-Goutieres Syndrome
|
ACR001
|
AGS
|
| Aicardi-Goutieres Syndrome 1, Dominant and Recessive
|
ACR061
|
AGS1
|
| Aicardi-Goutieres Syndrome 2
|
ACR090
|
AGS2
|
| Aicardi-Goutieres Syndrome 3
|
ACR088
|
AGS3
|
| Aicardi-Goutieres Syndrome 4
|
ACR091
|
AGS4
|
| Aicardi-Goutieres Syndrome 5
|
ACR092
|
AGS5
|
| Aicardi-Goutieres Syndrome 6
|
ACR081
|
AGS6
|
| Aicardi-Goutieres Syndrome 7
|
ACR084
|
AGS7
|
| Aids Dementia Complex
|
ADS004
|
ADC
|
| Aids Wasting Syndrome
|
ADS015
|
|
| Ainhum
|
ANH001
|
|
| Aip-Related Familial Isolated Pituitary Adenomas
|
APR002
|
|
| Aipl1-Related Leber Congenital Amaurosis
|
APL013
|
|
| Aipl1-Related Retinitis Pigmentosa
|
APL014
|
|
| Akinetic Mutism
|
AKN002
|
|
| Akinetopsia
|
AKN001
|
|
| Al Amyloidosis
|
ALM001
|
|
| Al-Raqad Syndrome
|
ALR002
|
ARS
|
| Alacrima, Achalasia, and Mental Retardation Syndrome
|
ALC028
|
AAMR
|
| Alagille Syndrome
|
ALG002
|
ALGS1
|
| Alagille Syndrome 2
|
ALG016
|
ALGS2
|
| Aland Island Eye Disease
|
ALN001
|
AIED
|
| Alazami Syndrome
|
ALZ030
|
ALAZS
|
| Alazami-Yuan Syndrome
|
ALZ044
|
ALYUS
|
| Albinism
|
ALB002
|
|
| Albinism-Deafness Syndrome
|
ALB003
|
ALDS
|
| Albinism, Oculocutaneous, Type Ia
|
ALB009
|
OCA1A
|
| Albinism, Oculocutaneous, Type Ib
|
ALB010
|
OCA1B
|
| Albinism, Oculocutaneous, Type Ii
|
ALB021
|
OCA2
|
| Albinism, Oculocutaneous, Type Iii
|
ALB020
|
OCA3
|
| Albinism, Oculocutaneous, Type Iv
|
ALB019
|
OCA4
|
| Albinism, Oculocutaneous, Type V
|
ALB015
|
OCA5
|
| Albinism, Oculocutaneous, Type Vi
|
ALB017
|
OCA6
|
| Albinism, Oculocutaneous, Type Vii
|
ALB016
|
OCA7
|
| Albright's Hereditary Osteodystrophy
|
ALB001
|
AHO
|
| Alcohol Abuse
|
ALC004
|
|
| Alcohol Dependence
|
ALC007
|
|
| Alcohol Sensitivity, Acute
|
ALC016
|
|
| Alcohol-Induced Mental Disorder
|
ALC013
|
|
| Alcohol-Related Birth Defect
|
ALC001
|
ARBD
|
| Alcohol-Related Neurodevelopmental Disorder
|
ALC002
|
ARND
|
| Alcoholic Cardiomyopathy
|
ALC010
|
|
| Alcoholic Hepatitis
|
ALC006
|
|
| Alcoholic Liver Cirrhosis
|
ALC009
|
|
| Alcoholic Neuropathy
|
ALC011
|
|
| Alcoholic Pancreatitis
|
ALC005
|
|
| Alcoholic Psychosis
|
ALC003
|
|
| Aldh18a1-Related Cutis Laxa
|
ALD008
|
|
| Aldosteronism, Glucocorticoid-Remediable
|
ALD010
|
HALD1
|
| Aleukemic Leukemia Cutis
|
ALK003
|
|
| Aleukemic Mast Cell Leukemia
|
ALK014
|
|
| Aleukemic Monocytic Leukemia Cutis
|
ALK002
|
|
| Aleutian Mink Disease
|
ALT002
|
|
| Alexander Disease
|
ALX003
|
ALXDRD
|
| Alexander Disease Type I
|
ALX007
|
|
| Alexander Disease Type Ii
|
ALX006
|
|
| Alexia
|
ALX001
|
|
| Alexithymia
|
ALX002
|
|
| Alg1-Congenital Disorder of Glycosylation
|
ALG025
|
CDGIK
|
| Alg14-Related Congenital Myasthenic Syndrome Without Tubular Aggregates
|
ALG023
|
|
| Alg6-Congenital Disorder of Glycosylation
|
ALG024
|
CDGIC
|
| Algoneurodystrophy
|
ALG001
|
|
| Alk-Negative Anaplastic Large Cell Lymphoma
|
ALK016
|
|
| Alk-Positive Anaplastic Large Cell Lymphoma
|
ALK015
|
|
| Alk-Positive Large B-Cell Lymphoma
|
ALK017
|
|
| Alk-Related Neuroblastoma Susceptibility
|
ALK004
|
|
| Alk+ Histiocytosis
|
ALK005
|
|
| Alkaptonuria
|
ALK013
|
AKU
|
| Allan-Herndon-Dudley Syndrome
|
ALL001
|
MCT8 DEFICIENCY
|
| Allergic Asthma
|
ALL006
|
|
| Allergic Bronchopulmonary Aspergillosis
|
ALL008
|
ABPA
|
| Allergic Conjunctivitis
|
ALL009
|
|
| Allergic Contact Dermatitis
|
ALL010
|
|
| Allergic Cutaneous Vasculitis
|
ALL002
|
|
| Allergic Encephalomyelitis
|
ALL014
|
|
| Allergic Hypersensitivity Disease
|
ALL026
|
|
| Allergic Rhinitis
|
ALL003
|
ALRH
|
| Allergic Urticaria
|
ALL007
|
|
| Allopurinol Toxicity
|
ALL025
|
|
| Alobar Holoprosencephaly
|
ALB014
|
|
| Alopecia
|
ALP008
|
|
| Alopecia and T-Cell Immunodeficiency
|
ALP030
|
|
| Alopecia Areata
|
ALP009
|
AA
|
| Alopecia Areata 1
|
ALP039
|
|
| Alopecia Areata 2
|
ALP040
|
|
| Alopecia Totalis
|
ALP048
|
|
| Alopecia Universalis
|
ALP001
|
ALUNC
|
| Alopecia-Intellectual Disability Syndrome
|
ALP068
|
APMR1
|
| Alopecia-Mental Retardation Syndrome 1
|
ALP076
|
|
| Alopecia-Mental Retardation Syndrome 2
|
ALP075
|
|
| Alopecia-Mental Retardation Syndrome 3
|
ALP063
|
|
| Alopecia, Androgenetic, 1
|
ALP061
|
|
| Alopecia, Androgenetic, 2
|
ALP036
|
|
| Alopecia, Androgenetic, 3
|
ALP037
|
|
| Alopecia, Neurologic Defects, and Endocrinopathy Syndrome
|
ALP041
|
ANES
|
| Alox12b-Related Autosomal Recessive Congenital Ichthyosis
|
ALX004
|
|
| Aloxe3-Related Autosomal Recessive Congenital Ichthyosis
|
ALX005
|
|
| Alpha Chain Disease
|
ALP005
|
|
| Alpha Thalassemia-Intellectual Disability Syndrome Type 1
|
ALP094
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome
|
ALP095
|
|
| Alpha-2-Macroglobulin Deficiency
|
ALP062
|
|
| Alpha-2-Plasmin Inhibitor Deficiency
|
ALP043
|
APLID
|
| Alpha-Fetoprotein Deficiency
|
ALP072
|
AFPD
|
| Alpha-Fetoprotein, Hereditary Persistence of
|
ALP088
|
HPAFP
|
| Alpha-Ketoglutarate Dehydrogenase Deficiency
|
ALP011
|
|
| Alpha-Mannosidosis, Adult Form
|
ALP056
|
|
| Alpha-Mannosidosis, Infantile Form
|
ALP055
|
|
| Alpha-Methylacetoacetic Aciduria
|
ALP077
|
3KTD
|
| Alpha-Methylacyl-Coa Racemase Deficiency
|
ALP012
|
AMACRD
|
| Alpha-Thalassemia Myelodysplasia Syndrome, Somatic
|
ALP034
|
ATMDS
|
| Alpha-Thalassemia/mental Retardation Syndrome
|
ALP014
|
ATRX
|
| Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related
|
ALP093
|
|
| Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
|
ALP042
|
T-CMVA
|
| Alport Syndrome
|
ALP004
|
APSX
|
| Alport Syndrome and Thin Basement Membrane Nephropathy
|
ALP047
|
|
| Alport Syndrome, Autosomal Dominant
|
ALP074
|
APSAD
|
| Alport Syndrome, Autosomal Recessive
|
ALP073
|
APSAR
|
| Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
|
ALP035
|
ATS-MR
|
| Als2-Related Disorders
|
ALS003
|
|
| Als5-Related Amyotrophic Lateral Sclerosis
|
ALS007
|
ALS5
|
| Alstrom Syndrome
|
ALS001
|
ALMS
|
| Alternating Esotropia
|
ALT004
|
|
| Alternating Exotropia
|
ALT003
|
|
| Alternating Hemiplegia of Childhood
|
ALT001
|
AHC1
|
| Alternating Hemiplegia of Childhood 2
|
ALT007
|
AHC2
|
| Alveolar Capillary Dysplasia
|
ALV006
|
|
| Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
|
ALV007
|
ACDMPV
|
| Alveolar Echinococcosis
|
ALV002
|
|
| Alveolar Periostitis
|
ALV001
|
|
| Alveolar Soft-Part Sarcoma
|
ALV010
|
ASPS
|
| Alzheimer Disease
|
ALZ034
|
AD
|
| Alzheimer Disease 12
|
ALZ012
|
AD12
|
| Alzheimer Disease 16
|
ALZ014
|
AD16
|
| Alzheimer Disease 17
|
ALZ031
|
AD17
|
| Alzheimer Disease 18
|
ALZ032
|
AD18
|
| Alzheimer Disease 19, Late Onset
|
ALZ033
|
AD19
|
| Alzheimer Disease Mitochondrial
|
ALZ029
|
AD-MT
|
| Alzheimer Disease Risk Factor
|
ALZ008
|
|
| Alzheimer Disease Type 1
|
ALZ002
|
AD1
|
| Alzheimer Disease-2
|
ALZ037
|
AD2
|
| Alzheimer Disease-4
|
ALZ035
|
AD4
|
| Alzheimer Disease, Type 3
|
ALZ036
|
AD3
|
| Alzheimer's Disease 11
|
ALZ040
|
AD11
|
| Alzheimer's Disease 13
|
ALZ041
|
AD13
|
| Alzheimer's Disease 14
|
ALZ042
|
AD14
|
| Alzheimer's Disease 15
|
ALZ043
|
AD15
|
| Alzheimer's Disease 7
|
ALZ039
|
AD7
|
| Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis
|
AMR007
|
|
| Amaurosis Fugax
|
AMR003
|
|
| Amblyopia
|
AMB002
|
|
| Amebiasis
|
AMB001
|
|
| Amelanotic Melanoma
|
AML001
|
|
| Ameloblastic Carcinoma
|
AML004
|
|
| Ameloblastoma
|
AML029
|
AOT
|
| Amelogenesis Imperfecta
|
AML002
|
AI
|
| Amelogenesis Imperfecta 1j
|
AML054
|
AI1J
|
| Amelogenesis Imperfecta Hypomaturation Type
|
AML005
|
AIH
|
| Amelogenesis Imperfecta Hypoplastic Type, Ig
|
AML006
|
ERS
|
| Amelogenesis Imperfecta-Gingival Hyperplasia Syndrome
|
AML052
|
|
| Amelogenesis Imperfecta, Hypomaturation Type, 2a6
|
AML055
|
AI2A6
|
| Amelogenesis Imperfecta, Type 1e
|
AML016
|
AI1E
|
| Amelogenesis Imperfecta, Type Ia
|
AML047
|
AI1A
|
| Amelogenesis Imperfecta, Type Ib
|
AML017
|
AI1B
|
| Amelogenesis Imperfecta, Type Ic
|
AML018
|
AI1C
|
| Amelogenesis Imperfecta, Type if
|
AML050
|
AI1F
|
| Amelogenesis Imperfecta, Type Ig
|
AML044
|
AI1G
|
| Amelogenesis Imperfecta, Type Ih
|
AML048
|
AI1H
|
| Amelogenesis Imperfecta, Type Iia1
|
AML024
|
AI2A1
|
| Amelogenesis Imperfecta, Type Iia2
|
AML023
|
AI2A2
|
| Amelogenesis Imperfecta, Type Iia3
|
AML043
|
AI2A3
|
| Amelogenesis Imperfecta, Type Iia4
|
AML049
|
AI2A4
|
| Amelogenesis Imperfecta, Type Iia5
|
AML046
|
AI2A5
|
| Amelogenesis Imperfecta, Type Iii
|
AML019
|
AI3
|
| Amelogenesis Imperfecta, Type Iv
|
AML020
|
AI4
|
| Amenorrhea
|
AMN001
|
|
| Ametropic Amblyopia
|
AMT001
|
|
| Amino Acid Metabolic Disorder
|
AMN002
|
|
| Aminoaciduria
|
AMN006
|
|
| Aminoacylase 1 Deficiency
|
AMN007
|
ACY1D
|
| Amish Infantile Epilepsy Syndrome
|
AMS002
|
SPDRS
|
| Aml with Myelodysplasia-Related Features
|
AML051
|
|
| Amnestic Disorder
|
AMN003
|
|
| Amphetamine Abuse
|
AMP007
|
|
| Ampulla of Vater Adenocarcinoma
|
AMP009
|
|
| Ampulla of Vater Neoplasm
|
AMP003
|
|
| Amt-Related Glycine Encephalopathy
|
AMT002
|
|
| Amusia
|
AMS001
|
|
| Amyloid Neuropathy
|
AMY005
|
|
| Amyloid Tumor
|
AMY002
|
|
| Amyloidosis
|
AMY004
|
|
| Amyloidosis Aa
|
AMY009
|
|
| Amyloidosis, Familial Visceral
|
AMY082
|
AMYL8
|
| Amyloidosis, Finnish Type
|
AMY084
|
AMYL5
|
| Amyloidosis, Hereditary, Transthyretin-Related
|
AMY087
|
AMYL-TTR
|
| Amyloidosis, Primary Localized Cutaneous, 1
|
AMY060
|
PLCA1
|
| Amyloidosis, Primary Localized Cutaneous, 2
|
AMY056
|
PLCA2
|
| Amyotrophic Lateral Sclerosis 1
|
AMY091
|
ALS
|
| Amyotrophic Lateral Sclerosis 10, with or Without Ftd
|
AMY040
|
ALS10
|
| Amyotrophic Lateral Sclerosis 11
|
AMY083
|
ALS11
|
| Amyotrophic Lateral Sclerosis 12
|
AMY062
|
ALS12
|
| Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia
|
AMY061
|
ALS14
|
| Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia
|
AMY068
|
ALS15
|
| Amyotrophic Lateral Sclerosis 16, Juvenile
|
AMY057
|
ALS16
|
| Amyotrophic Lateral Sclerosis 17
|
AMY055
|
ALS17
|
| Amyotrophic Lateral Sclerosis 18
|
AMY067
|
ALS18
|
| Amyotrophic Lateral Sclerosis 19
|
AMY059
|
ALS19
|
| Amyotrophic Lateral Sclerosis 2, Juvenile
|
AMY058
|
ALS2
|
| Amyotrophic Lateral Sclerosis 20
|
AMY063
|
ALS20
|
| Amyotrophic Lateral Sclerosis 21
|
AMY069
|
ALS21
|
| Amyotrophic Lateral Sclerosis 22 with or Without Frontotemoral Dementia
|
AMY092
|
ALS22
|
| Amyotrophic Lateral Sclerosis 3
|
AMY088
|
ALS3
|
| Amyotrophic Lateral Sclerosis 4, Juvenile
|
AMY045
|
ALS4
|
| Amyotrophic Lateral Sclerosis 5, Juvenile
|
AMY094
|
ALS5
|
| Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia
|
AMY095
|
ALS6
|
| Amyotrophic Lateral Sclerosis 7
|
AMY089
|
ALS7
|
| Amyotrophic Lateral Sclerosis 8
|
AMY090
|
ALS8
|
| Amyotrophic Lateral Sclerosis 9
|
AMY085
|
ALS9
|
| Amyotrophic Lateral Sclerosis Type 10
|
AMY019
|
ALS10
|
| Amyotrophic Lateral Sclerosis Type 14
|
AMY074
|
ALS14
|
| Amyotrophic Lateral Sclerosis Type 5
|
AMY022
|
ALS5
|
| Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex
|
AMY066
|
ALS-PDC1
|
| Amyotrophic Neuralgia
|
AMY003
|
|
| Amyotrophy, Hereditary Neuralgic
|
AMY086
|
HNA
|
| Amyotrophy, Monomelic
|
AMY098
|
|
| Anaerobic Meningitis
|
ANR005
|
|
| Anal Canal Adenocarcinoma
|
ANL014
|
|
| Anal Canal Carcinoma
|
ANL011
|
|
| Anal Canal Squamous Cell Carcinoma
|
ANL004
|
|
| Anal Carcinoma in Situ
|
ANL008
|
|
| Anal Fistula
|
ANL022
|
|
| Anal Gland Adenocarcinoma
|
ANL012
|
|
| Anal Margin Carcinoma
|
ANL016
|
|
| Anal Paget's Disease
|
ANL006
|
|
| Anal Spasm
|
ANL005
|
|
| Anal Sphincter Dysplasia
|
ANL019
|
ASDP
|
| Anal Squamous Cell Carcinoma
|
ANL017
|
|
| Analbuminemia
|
ANL018
|
ANALBA
|
| Anaplastic Ependymoma
|
ANP006
|
|
| Anaplastic Ganglioglioma
|
ANP007
|
|
| Anaplastic Large Cell Lymphoma
|
ANP001
|
ALCL
|
| Anaplastic Oligoastrocytoma
|
ANP008
|
AMOA
|
| Anaplastic Oligodendroglioma
|
ANP009
|
|
| Anauxetic Dysplasia
|
ANX001
|
|
| Anauxetic Dysplasia 1
|
ANX007
|
|
| Anca-Associated Vasculitis
|
ANC002
|
AAV
|
| Ancylostomiasis
|
ANC001
|
|
| Andersen Syndrome
|
AND016
|
LQT7
|
| Andersen Syndrome Type 1
|
AND007
|
LQT7
|
| Androgen Insensitivity
|
AND015
|
AIS
|
| Androgen Insensitivity, Partial, with or Without Breast Cancer
|
AND010
|
PAIS
|
| Androgenic Alopecia
|
AND014
|
|
| Anemia of Prematurity
|
ANM001
|
|
| Anemia, Hemolytic, Due to Umph1 Deficiency
|
ANM012
|
P5ND
|
| Anemia, Hemolytic, Rh-Null, Regulator Type
|
ANM009
|
RHN
|
| Anemia, Hypochromic Microcytic
|
ANM030
|
AHMIO1
|
| Anemia, Hypochromic Microcytic, with Iron Overload 2
|
ANM027
|
AHMIO2
|
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory
|
ANM032
|
SIDBA3
|
| Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
|
ANM028
|
SIDBA2
|
| Anemia, Sideroblastic, with Ataxia
|
ANM008
|
ASAT
|
| Anemia, Sideroblastic, X-Linked
|
ANM029
|
SIDBA1
|
| Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities
|
ANM026
|
XLAWT
|
| Anencephaly
|
ANN002
|
|
| Aneurysm
|
ANR040
|
|
| Aneurysm, Intracranial Berry, 1
|
ANR027
|
|
| Aneurysm, Intracranial Berry, 10
|
ANR025
|
|
| Aneurysm, Intracranial Berry, 11
|
ANR039
|
|
| Aneurysm, Intracranial Berry, 2
|
ANR011
|
ANIB2
|
| Aneurysm, Intracranial Berry, 3
|
ANR028
|
|
| Aneurysm, Intracranial Berry, 4
|
ANR022
|
|
| Aneurysm, Intracranial Berry, 5
|
ANR026
|
|
| Aneurysm, Intracranial Berry, 6
|
ANR029
|
|
| Aneurysm, Intracranial Berry, 7
|
ANR023
|
|
| Aneurysm, Intracranial Berry, 8
|
ANR030
|
|
| Aneurysm, Intracranial Berry, 9
|
ANR024
|
|
| Aneurysmal Bone Cysts
|
ANR009
|
|
| Ang-Related Amyotrophic Lateral Sclerosis
|
ANG036
|
|
| Angel-Shaped Phalangoepiphyseal Dysplasia
|
ANG066
|
ASPED
|
| Angelman Syndrome
|
ANG001
|
AS
|
| Angelman Syndrome Due to a Point Mutation
|
ANG058
|
|
| Angelman Syndrome Due to Imprinting Defect in 15q11-Q13
|
ANG059
|
|
| Angelman Syndrome Due to Maternal 15q11q13 Deletion
|
ANG053
|
|
| Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15
|
ANG052
|
|
| Angina Pectoris
|
ANG054
|
|
| Angiocentric Glioma
|
ANG050
|
|
| Angiodysplasia
|
ANG011
|
|
| Angioedema
|
ANG015
|
|
| Angioedema Induced by Ace Inhibitors
|
ANG049
|
AEACEI
|
| Angioedema, Hereditary, Type Iii
|
ANG045
|
HAE3
|
| Angioedema, Hereditary, Types I and Ii
|
ANG041
|
HAE
|
| Angioid Streaks
|
ANG004
|
|
| Angioimmunoblastic Lymphadenopathy with Dysproteinemia
|
ANG025
|
|
| Angioimmunoblastic T-Cell Lymphoma
|
ANG046
|
AILT
|
| Angiokeratoma
|
ANG016
|
|
| Angiokeratoma Circumscriptum
|
ANG007
|
|
| Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
|
ANG035
|
|
| Angiokeratoma of Fordyce
|
ANG014
|
|
| Angiolipoma
|
ANG017
|
|
| Angioma Serpiginosum
|
ANG013
|
|
| Angioma, Tufted
|
ANG065
|
|
| Angiomatosis
|
ANG037
|
|
| Angiomatous Meningioma
|
ANG009
|
|
| Angiomyolipoma
|
ANG018
|
|
| Angiomyoma
|
ANG019
|
|
| Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps
|
ANG060
|
HANAC
|
| Angiosarcoma
|
ANG020
|
|
| Angiosarcoma of the Scalp
|
ANG034
|
|
| Angiostrongyliasis
|
ANG002
|
|
| Angular Cheilitis
|
ANG061
|
|
| Anhaptoglobinemia
|
ANH003
|
AHP
|
| Anhidrosis
|
ANH002
|
|
| Anhidrosis, Isolated, with Normal Sweat Glands
|
ANH004
|
ANHD
|
| Animal Phobia
|
ANM002
|
|
| Aniridia
|
ANR002
|
AN1
|
| Aniridia 3
|
ANR046
|
AN3
|
| Anisakiasis
|
ANS003
|
|
| Aniseikonia
|
ANS002
|
|
| Anismus
|
ANS018
|
|
| Anisomastia
|
ANS015
|
|
| Anisometropia
|
ANS004
|
|
| Ank1-Related Spherocytosis
|
ANK011
|
SPH1
|
| Ankrd1-Related Dilated Cardiomyopathy
|
ANK006
|
|
| Ankyloglossia
|
ANK008
|
|
| Ankylosis
|
ANK001
|
|
| Ankyrin-B Syndrome
|
ANK016
|
|
| Ano5-Related Muscle Diseases
|
AN5001
|
|
| Anodontia
|
AND001
|
|
| Anogenital Venereal Wart
|
ANG005
|
|
| Anomalous Left Coronary Artery from the Pulmonary Artery
|
ANM031
|
|
| Anonychia Congenita
|
ANN001
|
NDNC4
|
| Anophthalmia-Esophageal Atresia-Genital Abnormalities Syndrome
|
ANP020
|
|
| Anophthalmia/microphthalmia
|
ANP022
|
|
| Anophthalmos with Limb Anomalies
|
ANP019
|
|
| Anorchia
|
ANR018
|
|
| Anorexia Nervosa
|
ANR007
|
ANON2
|
| Anorexia Nervosa 1
|
ANR038
|
|
| Anos1-Related Isolated Gonadotropin-Releasing Hormone Deficiency
|
ANS020
|
|
| Anosmia, Isolated Congenital
|
ANS017
|
ANIC
|
| Anosognosia
|
ANS006
|
|
| Anovulation
|
ANV001
|
|
| Anoxia
|
ANX004
|
|
| Antenatal Bartter Syndrome
|
ANT061
|
|
| Anterior Cerebral Artery Infarction
|
ANT004
|
|
| Anterior Compartment Syndrome
|
ANT010
|
|
| Anterior Cranial Fossa Meningioma
|
ANT022
|
|
| Anterior Cruciate Ligament Tears
|
ANT051
|
|
| Anterior Horn Cell Disease
|
ANT007
|
|
| Anterior Scleritis
|
ANT023
|
|
| Anterior Segment Dysgenesis 8
|
ANT067
|
ASGD8
|
| Anterior Segment Mesenchymal Dysgenesis
|
ANT026
|
ASGD1
|
| Anterior Spinal Artery Syndrome
|
ANT013
|
|
| Anterior Uveitis
|
ANT034
|
|
| Anterograde Amnesia
|
ANT019
|
|
| Anterolateral Myocardial Infarction
|
ANT001
|
|
| Anteroseptal Myocardial Infarction
|
ANT005
|
|
| Anthracosilicosis
|
ANT017
|
|
| Anthracosis
|
ANT018
|
|
| Anthrax Disease
|
ANT024
|
|
| Anti-Basement Membrane Glomerulonephritis
|
ANT002
|
|
| Anti-P200 Pemphigoid
|
ANT063
|
|
| Antidepressant or Antipsychotic Toxicity or Dose Selection
|
ANT064
|
|
| Antiphospholipid Syndrome
|
ANT006
|
APS
|
| Antiphospholipid Syndrome, Familial
|
ANT041
|
|
| Antisocial Personality Disorder
|
ANT011
|
|
| Antisynthetase Syndrome
|
ANT039
|
|
| Antley-Bixler Syndrome
|
ANT003
|
|
| Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis
|
ANT042
|
ABS1
|
| Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis
|
ANT057
|
ABS2
|
| Anuria
|
ANR004
|
|
| Anus Adenocarcinoma
|
ANS010
|
|
| Anus Basaloid Carcinoma
|
ANS001
|
|
| Anus Cancer
|
ANS011
|
|
| Anus Disease
|
ANS012
|
|
| Anxiety Disorder
|
ANX002
|
|
| Aorta Angiosarcoma
|
ART003
|
|
| Aortic Aneurysm
|
ART016
|
|
| Aortic Aneurysm, Familial Abdominal, 4
|
ART108
|
|
| Aortic Aneurysm, Familial Thoracic 1
|
ART067
|
|
| Aortic Aneurysm, Familial Thoracic 10
|
ART134
|
AAT10
|
| Aortic Aneurysm, Familial Thoracic 11
|
ART133
|
AAT11
|
| Aortic Aneurysm, Familial Thoracic 2
|
ART068
|
|
| Aortic Aneurysm, Familial Thoracic 4
|
ART028
|
AAT4
|
| Aortic Aneurysm, Familial Thoracic 6
|
ART071
|
AAT6
|
| Aortic Aneurysm, Familial Thoracic 7
|
ART105
|
AAT7
|
| Aortic Aneurysm, Familial Thoracic 8
|
ART107
|
AAT8
|
| Aortic Aneurysm, Familial Thoracic 9
|
ART118
|
AAT9
|
| Aortic Atherosclerosis
|
ART004
|
|
| Aortic Coarctation
|
ART031
|
|
| Aortic Disease
|
ART017
|
|
| Aortic Valve Disease 1
|
ART115
|
AOVD1
|
| Aortic Valve Disease 2
|
ART101
|
AOVD2
|
| Aortic Valve Insufficiency
|
ART018
|
|
| Aortic Valve Prolapse
|
ART015
|
|
| Aortitis
|
ART012
|
|
| Apc-Associated Polyposis Conditions
|
APC006
|
|
| Apert Syndrome
|
APR006
|
APRS
|
| Aphakia, Congenital Primary
|
APH010
|
ASGD2
|
| Aphasia
|
APH002
|
|
| Aphthous Stomatitis
|
APH001
|
|
| Apical Myocardial Infarction
|
APC001
|
|
| Aplasia Cutis Congenita
|
APL006
|
ACC
|
| Aplasia Cutis Congenita, Nonsyndromic
|
APL023
|
ACC
|
| Aplasia of Lacrimal and Salivary Glands
|
APL002
|
ALSG
|
| Aplastic Anemia
|
APL001
|
AA
|
| Aplastic Anemia Susceptibility, Sbds-Related
|
APL030
|
|
| Aplastic Anemia, Ifng-Related
|
APL021
|
|
| Aplastic Anemia, Prf1-Related
|
APL031
|
|
| Apo a-I Deficiency
|
APD001
|
|
| Apoa1-Associated Familial High Density Lipoprotein Deficiency
|
AP1001
|
|
| Apoa1-Related Familial Visceral Amyloidosis
|
AP1002
|
|
| Apob-Related Familial Hypercholesterolemia, Autosomal Dominant
|
APB001
|
|
| Apocrine Adenocarcinoma
|
APC004
|
|
| Apocrine Adenoma
|
APC003
|
|
| Apocrine Adenosis of Breast
|
APC002
|
|
| Apocrine Sweat Gland Neoplasm
|
APC005
|
|
| Apoe P.leu167del-Related Lipid Disorders
|
APP012
|
|
| Apolipoprotein a-Ii Deficiency
|
APL003
|
|
| Apolipoprotein C-Iii Deficiency
|
APL024
|
HALP2
|
| Apparent Mineralocorticoid Excess
|
APP015
|
AME
|
| Appendicitis
|
APP008
|
|
| Appendix Adenocarcinoma
|
APP009
|
|
| Appendix Cancer
|
APP010
|
|
| Appendix Carcinoid Tumor
|
APP013
|
|
| Appendix Lymphoma
|
APP002
|
|
| Apperceptive Agnosia
|
APP006
|
|
| Apple Allergy
|
APP016
|
|
| Apraxia
|
APR001
|
|
| Aptx-Related Coenzyme Q10 Deficiency
|
APT001
|
|
| Aqueous Misdirection
|
AQS001
|
|
| Arachnoid Cysts
|
ARC007
|
|
| Arachnoiditis
|
ARC002
|
|
| Arcus Senilis
|
ARC001
|
|
| Aregenerative Anemia
|
ARG006
|
|
| Arena Syndrome
|
ARN001
|
|
| Argentine Hemorrhagic Fever
|
ARG001
|
|
| Argininemia
|
ARG007
|
ARGIN
|
| Argininosuccinic Aciduria
|
ARG002
|
ARGINSA
|
| Arhgef9-Related Hyperekplexia
|
ARH002
|
|
| Arhinia, Choanal Atresia, and Microphthalmia
|
ARH003
|
BAMS
|
| Ariboflavinosis
|
ARB001
|
|
| Arid1a-Related Coffin-Siris Syndrome
|
ARD002
|
CSS2
|
| Arid1b-Related Coffin-Siris Syndrome
|
ARD003
|
CSS1
|
| Arl13b-Related Joubert Syndrome
|
ARL002
|
|
| Arl2bp-Related Retinitis Pigmentosa
|
ARL007
|
|
| Arl6-Related Bardet-Biedl Syndrome
|
ARL003
|
BBS3
|
| Arl6-Related Retinitis Pigmentosa
|
ARL005
|
RP55
|
| Armfield X-Linked Mental Retardation Syndrome
|
ARM006
|
MRXSA
|
| Aromatase Deficiency
|
ARM001
|
AROD
|
| Aromatase Excess Syndrome
|
ARM004
|
AEXS
|
| Aromatic L-Amino Acid Decarboxylase Deficiency
|
ARM002
|
AADCD
|
| Arrhinia
|
ARR002
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy
|
ARR042
|
ARVC
|
| Arrhythmogenic Right Ventricular Dysplasia 1
|
ARR026
|
ARVD1
|
| Arrhythmogenic Right Ventricular Dysplasia 10
|
ARR040
|
ARVD10
|
| Arrhythmogenic Right Ventricular Dysplasia 11
|
ARR038
|
ARVD11
|
| Arrhythmogenic Right Ventricular Dysplasia 12
|
ARR037
|
ARVD12
|
| Arrhythmogenic Right Ventricular Dysplasia 2
|
ARR030
|
ARVD2
|
| Arrhythmogenic Right Ventricular Dysplasia 3
|
ARR036
|
ARVC3
|
| Arrhythmogenic Right Ventricular Dysplasia 4
|
ARR033
|
ARVC4
|
| Arrhythmogenic Right Ventricular Dysplasia 5
|
ARR025
|
ARVD5
|
| Arrhythmogenic Right Ventricular Dysplasia 6
|
ARR034
|
ARVC6
|
| Arrhythmogenic Right Ventricular Dysplasia 8
|
ARR029
|
ARVD8
|
| Arrhythmogenic Right Ventricular Dysplasia 9
|
ARR035
|
ARVD9
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
|
ARR041
|
ARVD13
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 1
|
ARR004
|
ARVD1
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 2
|
ARR005
|
ARVD2
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 5
|
ARR008
|
ARVD5
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 8
|
ARR011
|
ARVD8
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 9
|
ARR012
|
ARVD9
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy10
|
ARR014
|
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy11
|
ARR015
|
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy12
|
ARR016
|
|
| Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy13
|
ARR043
|
|
| Arsacs
|
ARS002
|
SACS
|
| Artemis Deficiency
|
ART009
|
|
| Arterial Calcification of Infancy
|
ART035
|
GACI
|
| Arterial Calcification, Generalized, of Infancy, 1
|
ART106
|
GACI1
|
| Arterial Calcification, Generalized, of Infancy, 2
|
ART102
|
GACI2
|
| Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
|
ART132
|
GRNG
|
| Arterial Tortuosity Syndrome
|
ART001
|
ATS
|
| Arteriolosclerosis
|
ART010
|
|
| Arteriosclerosis
|
ART021
|
|
| Arteriosclerosis Obliterans
|
ART008
|
|
| Arteriovenous Fistula
|
ART084
|
|
| Arteriovenous Malformation
|
ART005
|
AVM
|
| Arteritic Anterior Ischemic Optic Neuropathy
|
ART110
|
|
| Artery Disease
|
ART111
|
|
| Arthritis
|
ART022
|
|
| Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis
|
ART058
|
|
| Arthrogryposis Multiplex Congenita, Distal, Type 1
|
ART121
|
DA1A
|
| Arthrogryposis, Distal, Type 1b
|
ART060
|
DA1B
|
| Arthrogryposis, Distal, Type 2a
|
ART061
|
DA2A
|
| Arthrogryposis, Distal, Type 2b
|
ART117
|
DA2B
|
| Arthrogryposis, Distal, Type 3
|
ART120
|
DA3
|
| Arthrogryposis, Distal, Type 4
|
ART131
|
|
| Arthrogryposis, Distal, Type 5
|
ART119
|
DA5
|
| Arthrogryposis, Distal, Type 5d
|
ART104
|
DA5D
|
| Arthrogryposis, Distal, Type 8
|
ART122
|
DA8
|
| Arthrogryposis, Distal, with Impaired Proprioception and Touch
|
ART136
|
DAIPT
|
| Arthrogryposis, Lethal, with Anterior Horn Cell Disease
|
ART069
|
LAAHD
|
| Arthrogryposis, Mental Retardation, and Seizures
|
ART103
|
AMRS
|
| Arthrogryposis, Perthes Disease, and Upward Gaze Palsy
|
ART135
|
APUG
|
| Arthrogryposis, Renal Dysfunction, and Cholestasis 1
|
ART062
|
ARCS1
|
| Arthrogryposis, Renal Dysfunction, and Cholestasis 2
|
ART063
|
ARCS2
|
| Arthropathy
|
ART023
|
|
| Arthropathy, Progressive Pseudorheumatoid, of Childhood
|
ART116
|
PPAC
|
| Arthus Reaction
|
ART006
|
|
| Articulation Disorder
|
ART014
|
|
| Arts Syndrome
|
ART002
|
ARTS
|
| Arx-Related Disorders
|
ARX001
|
|
| Asbestos-Related Lung Carcinoma
|
ASB002
|
|
| Asbestosis
|
ASB001
|
|
| Ascariasis
|
ASC002
|
|
| Ascaridiasis
|
ASC001
|
|
| Ascending Cholangitis
|
ASC003
|
|
| Ascending Colon Cancer
|
ASC004
|
|
| Ascites, Chylous
|
ASC009
|
|
| Aseptic Meningitis
|
ASP003
|
|
| Askin's Tumor
|
ASK001
|
|
| Asparagine Synthetase Deficiency
|
ASP024
|
ASNSD
|
| Aspartate Aminotransferase, Serum Level of, Qtl1
|
ASP025
|
|
| Aspartylglucosaminuria
|
ASP002
|
AGU
|
| Asperger Syndrome
|
ASP001
|
ASPX1
|
| Asperger Syndrome Susceptibility, X-Linked 1
|
ASP018
|
ASPGX1
|
| Asperger Syndrome Susceptibility, X-Linked 2
|
ASP019
|
ASPGX2
|
| Aspergillosis
|
ASP006
|
|
| Asphyxia Neonatorum
|
ASP004
|
|
| Asphyxiating Thoracic Dystrophy
|
ASP005
|
ATD
|
| Aspiration Pneumonia
|
ASP007
|
|
| Aspiration Pneumonitis
|
ASP008
|
|
| Asplenia, Isolated Congenital
|
ASP026
|
ICAS
|
| Associative Agnosia
|
ASS001
|
|
| Astereognosia
|
AST004
|
|
| Asthenopia
|
AST003
|
|
| Asthma
|
AST005
|
ASTHMA
|
| Asthma 1
|
AST037
|
ASRT1
|
| Asthma 2
|
AST039
|
ASRT2
|
| Asthma Susceptibility 5
|
AST022
|
ASRT5
|
| Asthma Susceptibility, Adrb2-Related
|
AST041
|
|
| Asthma Susceptibility, Ccl11-Related
|
AST042
|
|
| Asthma Susceptibility, Hla-G-Related
|
AST043
|
|
| Asthma Susceptibility, Hnmt Related
|
AST044
|
|
| Asthma Susceptibility, Il13-Related
|
AST045
|
|
| Asthma Susceptibility, Muc7-Related
|
AST046
|
|
| Asthma Susceptibility, Pla2g7-Related
|
AST047
|
|
| Asthma Susceptibility, Scgb3a2-Related
|
AST048
|
|
| Asthma Susceptibility, Tnf-Related
|
AST049
|
|
| Asthma-Related Traits 3
|
AST033
|
|
| Asthma-Related Traits 4
|
AST034
|
|
| Asthma-Related Traits 6
|
AST035
|
|
| Asthma-Related Traits 7
|
AST032
|
ASRT7
|
| Asthma-Related Traits 8
|
AST036
|
|
| Asthma, Aspirin-Induced
|
AST038
|
ANPAI
|
| Asthma, Phf11-Related
|
AST050
|
|
| Astigmatism
|
AST006
|
|
| Astroblastoma
|
AST002
|
|
| Astrocytoma
|
AST007
|
|
| Asymmetric Motor Neuropathy
|
ASY004
|
|
| Asymptomatic Dengue
|
ASY001
|
|
| Asymptomatic Neurosyphilis
|
ASY002
|
|
| Ataxia
|
ATX004
|
|
| Ataxia - Hypogonadism - Choroidal Dystrophy
|
ATX021
|
BNS
|
| Ataxia and Polyneuropathy, Adult-Onset
|
ATX038
|
APAO
|
| Ataxia Neuropathy Spectrum
|
ATX010
|
ANS
|
| Ataxia with Isolated Vitamin E Deficiency
|
ATX003
|
AVED
|
| Ataxia with Vitamin E Deficiency
|
ATX019
|
AVED
|
| Ataxia-Oculomotor Apraxia 3
|
ATX024
|
AOA3
|
| Ataxia-Oculomotor Apraxia 4
|
ATX033
|
AOA4
|
| Ataxia-Telangiectasia
|
ATX030
|
AT
|
| Ataxia-Telangiectasia-Like Disorder
|
ATX006
|
ATLD1
|
| Ataxia, Cerebellar, Cayman Type
|
ATX018
|
ATCAY
|
| Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus
|
ATX031
|
ACPHD
|
| Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia
|
ATX029
|
AOA
|
| Ataxia, Posterior Column, with Retinitis Pigmentosa
|
ATX032
|
PCARP
|
| Ataxia, Sensory, 1, Autosomal Dominant
|
ATX023
|
SNAX1
|
| Ataxia, Spastic, 4
|
ATX016
|
SPAX4
|
| Ataxia, Spastic, 5, Autosomal Recessive
|
ATX025
|
SPAX5
|
| Atelosteogenesis
|
ATL001
|
|
| Atelosteogenesis Ii
|
ATL002
|
AO2
|
| Atelosteogenesis, Type I
|
ATL011
|
AO1
|
| Atelosteogenesis, Type Iii
|
ATL012
|
AO3
|
| Athabaskan Brainstem Dysgenesis Syndrome
|
ATH001
|
ABDS
|
| Atherosclerosis
|
ATH003
|
|
| Athetosis
|
ATH004
|
|
| Athyreosis
|
ATH010
|
|
| Atlantoaxial Subluxation
|
ATL010
|
|
| Atopic Dermatitis
|
ATP001
|
|
| Atopic Dermatitis 3
|
ATP016
|
ATOD3
|
| Atopic Keratoconjunctivitis
|
ATP013
|
|
| Atopy
|
ATP002
|
ATOPY
|
| Atp1a2-Related Alternating Hemiplegia of Childhood
|
ATP011
|
AHC1
|
| Atp1a3-Related Alternating Hemiplegia of Childhood
|
ATP012
|
AHC2
|
| Atp6v0a2-Related Cutis Laxa
|
ATP003
|
|
| Atp7a-Related Copper Transport Disorders
|
ATP004
|
|
| Atp7a-Related Distal Motor Neuropathy
|
ATP005
|
|
| Atp8b1 Deficiency
|
ATP014
|
|
| Atp8b1-Related Intrahepatic Cholestasis
|
ATP006
|
|
| Atransferrinemia
|
ATR002
|
ATRAF
|
| Atrial Fibrillation
|
ATR011
|
A-FIB
|
| Atrial Fibrillation 15
|
ATR075
|
ATFB15
|
| Atrial Fibrillation and Stroke
|
ATR024
|
|
| Atrial Fibrillation, Familial, 1
|
ATR026
|
|
| Atrial Fibrillation, Familial, 10
|
ATR061
|
ATFB10
|
| Atrial Fibrillation, Familial, 11
|
ATR059
|
ATFB11
|
| Atrial Fibrillation, Familial, 12
|
ATR069
|
ATFB12
|
| Atrial Fibrillation, Familial, 13
|
ATR072
|
ATFB13
|
| Atrial Fibrillation, Familial, 14
|
ATR068
|
ATFB14
|
| Atrial Fibrillation, Familial, 2
|
ATR025
|
|
| Atrial Fibrillation, Familial, 3
|
ATR038
|
ATFB3
|
| Atrial Fibrillation, Familial, 4
|
ATR039
|
ATFB4
|
| Atrial Fibrillation, Familial, 5
|
ATR027
|
|
| Atrial Fibrillation, Familial, 6
|
ATR035
|
ATFB6
|
| Atrial Fibrillation, Familial, 7
|
ATR037
|
ATFB7
|
| Atrial Fibrillation, Familial, 8
|
ATR028
|
|
| Atrial Fibrillation, Familial, 9
|
ATR070
|
ATFB9
|
| Atrial Heart Septal Defect
|
ATR010
|
|
| Atrial Septal Defect 1
|
ATR062
|
ASD1
|
| Atrial Septal Defect 2
|
ATR066
|
ASD2
|
| Atrial Septal Defect 3
|
ATR022
|
ASD3
|
| Atrial Septal Defect 4
|
ATR031
|
ASD4
|
| Atrial Septal Defect 5
|
ATR023
|
ASD5
|
| Atrial Septal Defect 6
|
ATR034
|
ASD6
|
| Atrial Septal Defect 7, with or Without Av Conduction Defects
|
ATR063
|
ASD7
|
| Atrial Septal Defect 8
|
ATR065
|
ASD8
|
| Atrial Septal Defect 9
|
ATR056
|
ASD9
|
| Atrial Septal Defect Ostium Primum
|
ATR018
|
|
| Atrial Septal Defect Sinus Venosus
|
ATR019
|
|
| Atrial Standstill
|
ATR081
|
|
| Atrial Standstill 2
|
ATR074
|
ATRST2
|
| Atrial Standstill, Digenic
|
ATR060
|
ATRST1
|
| Atrial Tachyarrhythmia with Short Pr Interval
|
ATR048
|
|
| Atrichia with Papular Lesions
|
ATR013
|
APL
|
| Atrioventricular Block
|
ATR057
|
|
| Atrioventricular Septal Defect
|
ATR001
|
ECD
|
| Atrioventricular Septal Defect 2
|
ATR047
|
AVSD2
|
| Atrioventricular Septal Defect 3
|
ATR064
|
AVSD3
|
| Atrioventricular Septal Defect 4
|
ATR067
|
AVSD4
|
| Atrioventricular Septal Defect 5
|
ATR071
|
AVSD5
|
| Atrophic Gastritis
|
ATR005
|
|
| Atrophic Glossitis
|
ATR073
|
|
| Atrophic Lichen Planus
|
ATR052
|
|
| Atrophic Rhinitis
|
ATR003
|
OZENA
|
| Atrophoderma Vermiculata
|
ATR054
|
|
| Atrophy of Prostate
|
ATR008
|
|
| Atrophy of Testis
|
ATR009
|
|
| Attention Deficit-Hyperactivity Disorder
|
ATT013
|
ADHD
|
| Attention Deficit-Hyperactivity Disorder Susceptibility, Adhd4-Related
|
ATT016
|
|
| Attention Deficit-Hyperactivity Disorder Susceptibility, Drd4-Related
|
ATT017
|
|
| Attention Deficit-Hyperactivity Disorder Susceptibility, Drd5-Related
|
ATT018
|
|
| Attenuated Chédiak-Higashi Syndrome
|
ATT012
|
|
| Attenuated Familial Adenomatous Polyposis
|
ATT003
|
AAPC
|
| Atxn2-Related Parkinson Disease Susceptibility
|
ATX034
|
|
| Atypical Autism
|
ATY003
|
|
| Atypical Choroid Plexus Papilloma
|
ATY002
|
|
| Atypical Chronic Myeloid Leukemia
|
ATY042
|
ACML
|
| Atypical Depressive Disorder
|
ATY001
|
|
| Atypical Follicular Adenoma
|
ATY007
|
|
| Atypical Glycine Encephalopathy
|
ATY025
|
|
| Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly
|
ATY036
|
|
| Atypical Juvenile Parkinsonism
|
ATY034
|
|
| Atypical Lipomatous Tumor
|
ATY008
|
ALT
|
| Atypical Neurofibroma
|
ATY004
|
|
| Atypical Pantothenate Kinase-Associated Neurodegeneration
|
ATY030
|
|
| Atypical Polypoid Adenomyoma
|
ATY009
|
|
| Atypical Teratoid Rhabdoid Tumor
|
ATY005
|
|
| Atypical Werner Syndrome
|
ATY016
|
|
| Au-Kline Syndrome
|
AKL001
|
AUKS
|
| Audiogenic Seizures
|
ADG002
|
|
| Auditory Agnosia
|
ADT001
|
|
| Auditory Neuropathy
|
ADT004
|
|
| Auditory Neuropathy, Autosomal Dominant, 1
|
ADT007
|
AUNA1
|
| Auditory System Cancer
|
ADT002
|
|
| Auditory System Disease
|
ADT003
|
|
| Aural Atresia, Congenital
|
ARL004
|
CAA
|
| Auriculo-Condylar Syndrome
|
ARC008
|
|
| Auriculocondylar Syndrome 1
|
ARC016
|
ARCND1
|
| Auriculocondylar Syndrome 2
|
ARC011
|
ARCND2
|
| Auriculocondylar Syndrome 3
|
ARC017
|
ARCND3
|
| Autism 18
|
ATS173
|
AUTS18
|
| Autism 19
|
ATS170
|
AUTS19
|
| Autism 9
|
ATS171
|
|
| Autism Spectrum Disorder
|
ATS007
|
ASD
|
| Autism Spectrum Disorder Susceptibility, Chd8-Related
|
ATS350
|
|
| Autism Spectrum Disorder Susceptibility, Kmt5b-Related
|
ATS351
|
|
| Autism Susceptibility 15
|
ATS051
|
AUTS15
|
| Autism Susceptibility 16
|
ATS050
|
AUTS16
|
| Autism Susceptibility 17
|
ATS046
|
AUTS17
|
| Autism Susceptibility, X-Linked 1
|
ATS048
|
AUTSX1
|
| Autism Susceptibility, X-Linked 2
|
ATS049
|
AUTSX2
|
| Autism Susceptibility, X-Linked 3
|
ATS044
|
AUTSX3
|
| Autism Susceptibility, X-Linked 4
|
ATS043
|
|
| Autism X-Linked 4
|
ATS268
|
AUTSX4
|
| Autism X-Linked 5
|
ATS177
|
AUTSX5
|
| Autistic Disorder
|
ATS001
|
|
| Autoimmune Addison Disease
|
ATM078
|
|
| Autoimmune Atrophic Gastritis
|
ATM060
|
|
| Autoimmune Autonomic Ganglionopathy
|
ATM074
|
|
| Autoimmune Disease 1
|
ATM052
|
AIS1
|
| Autoimmune Disease 2
|
ATM053
|
|
| Autoimmune Disease 3
|
ATM054
|
|
| Autoimmune Disease 4
|
ATM055
|
|
| Autoimmune Disease 6
|
ATM059
|
AIS6
|
| Autoimmune Disease of Blood
|
ATM012
|
|
| Autoimmune Disease of Central Nervous System
|
ATM007
|
|
| Autoimmune Disease of Endocrine System
|
ATM014
|
|
| Autoimmune Disease of Gastrointestinal Tract
|
ATM015
|
|
| Autoimmune Disease of Skin and Connective Tissue
|
ATM016
|
|
| Autoimmune Disease of Urogenital Tract
|
ATM018
|
|
| Autoimmune Disease, Multisystem, Infantile-Onset
|
ATM080
|
ADMIO1
|
| Autoimmune Disease, Multisystem, Infantile-Onset, 2
|
ATM093
|
ADMIO2
|
| Autoimmune Disease, Multisystem, with Facial Dysmorphism
|
ATM081
|
ADMFD
|
| Autoimmune Encephalitis
|
ATM075
|
|
| Autoimmune Enteropathy
|
ATM020
|
|
| Autoimmune Hemolytic Anemia
|
ATM010
|
|
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
|
ATM091
|
|
| Autoimmune Hepatitis
|
ATM011
|
AIH
|
| Autoimmune Hypoparathyroidism
|
ATM068
|
|
| Autoimmune Inner Ear Disease
|
ATM021
|
AIED
|
| Autoimmune Interstitial Lung, Joint, and Kidney Disease
|
ATM086
|
AILJK
|
| Autoimmune Lymphoproliferative Syndrome
|
ATM006
|
ALPS1A
|
| Autoimmune Lymphoproliferative Syndrome, Type Ii
|
ATM030
|
ALPS2A
|
| Autoimmune Lymphoproliferative Syndrome, Type Iib
|
ATM046
|
CASP8D
|
| Autoimmune Lymphoproliferative Syndrome, Type Iii
|
ATM083
|
ALPS3
|
| Autoimmune Lymphoproliferative Syndrome, Type V
|
ATM082
|
ALPS5
|
| Autoimmune Myocarditis
|
ATM022
|
|
| Autoimmune Neuropathy
|
ATM089
|
|
| Autoimmune Pancreatitis
|
ATM024
|
AIP
|
| Autoimmune Polyendocrine Syndrome
|
ATM019
|
|
| Autoimmune Polyendocrine Syndrome Type 1
|
ATM002
|
APS1
|
| Autoimmune Polyendocrine Syndrome, Type Ii
|
ATM092
|
APS2
|
| Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia
|
ATM033
|
APS1
|
| Autoimmune Polyglandular Syndrome Type 3
|
ATM061
|
APS3
|
| Autoimmune Retinopathy
|
ATM076
|
|
| Autoimmune Thyroid Disease 1
|
ATM056
|
|
| Autoimmune Thyroid Disease 2
|
ATM057
|
|
| Autoimmune Thyroid Disease 3
|
ATM050
|
AITD3
|
| Autoimmune Thyroid Disease 4
|
ATM058
|
|
| Autoinflammation with Infantile Enterocolitis
|
ATN011
|
AIFEC
|
| Autoinflammation, Antibody Deficiency, and Immune Dysregulation Syndrome
|
ATN010
|
APLAID
|
| Autoinflammation, Lipodystrophy, and Dermatosis Syndrome
|
ATN007
|
NKJO
|
| Autonomic Dysfunction
|
ATN005
|
|
| Autonomic Nervous System Disease
|
ATN002
|
|
| Autonomic Nervous System Neoplasm
|
ATN003
|
|
| Autonomic Neuropathy
|
ATN004
|
|
| Autonomic Peripheral Neuropathy
|
ATN001
|
|
| Autosomal Dominant Café Au Lait Spots
|
ATS270
|
NF6
|
| Autosomal Dominant Cerebellar Ataxia
|
ATS308
|
SCA
|
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
|
ATS092
|
|
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
|
ATS289
|
|
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z
|
ATS353
|
|
| Autosomal Dominant Complex Spastic Paraplegia Type 9b
|
ATS321
|
|
| Autosomal Dominant Congenital Stationary Night Blindness
|
ATS168
|
|
| Autosomal Dominant Deafness-Onychodystrophy Syndrome
|
ATS254
|
DDOD
|
| Autosomal Dominant Disease
|
ATS008
|
|
| Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome
|
ATS357
|
|
| Autosomal Dominant Epilepsy with Auditory Features
|
ATS301
|
ADEAF
|
| Autosomal Dominant Intermediate Charcot-Marie-Tooth
|
ATS272
|
CMTDI
|
| Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
|
ATS261
|
|
| Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain
|
ATS093
|
|
| Autosomal Dominant Leukodystrophy with Autonomic Disease
|
ATS309
|
ADLD
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy
|
ATS330
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
|
ATS247
|
|
| Autosomal Dominant Macrothrombocytopenia
|
ATS208
|
|
| Autosomal Dominant Medullary Cystic Kidney Disease with Hyperuricemia
|
ATS139
|
MCKD2
|
| Autosomal Dominant Medullary Cystic Kidney Disease Without Hyperuricemia
|
ATS349
|
MCKD1
|
| Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency
|
ATS105
|
|
| Autosomal Dominant Microcephaly
|
ATS004
|
|
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
|
ATS292
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
|
ATS011
|
ENFL
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
|
ATS327
|
ENFL2
|
| Autosomal Dominant Non-Syndromic Intellectual Disability
|
ATS203
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna
|
ATS251
|
|
| Autosomal Dominant Nonsyndromic Deafness
|
ATS005
|
|
| Autosomal Dominant Nonsyndromic Deafness 12
|
ATS340
|
DFNA8
|
| Autosomal Dominant Nonsyndromic Deafness 20
|
ATS341
|
|
| Autosomal Dominant Nonsyndromic Deafness 6
|
ATS342
|
DFNA6
|
| Autosomal Dominant Nonsyndromic Deafness 66
|
ATS343
|
DFNA66
|
| Autosomal Dominant Nonsyndromic Deafness 68
|
ATS344
|
DFNA68
|
| Autosomal Dominant Nonsyndromic Deafness 69
|
ATS345
|
DCUA
|
| Autosomal Dominant Nonsyndromic Deafness 70
|
ATS346
|
DFNA70
|
| Autosomal Dominant Optic Atrophy Plus Syndrome
|
ATS069
|
DOA
|
| Autosomal Dominant Optic Atrophy, Classic Form
|
ATS300
|
|
| Autosomal Dominant Partial Epilepsy with Auditory Features
|
ATS012
|
ETL1
|
| Autosomal Dominant Polycystic Kidney Disease
|
ATS347
|
ADPKD
|
| Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome
|
ATS356
|
|
| Autosomal Dominant Progressive External Ophthalmoplegia
|
ATS025
|
ADPEO
|
| Autosomal Dominant Robinow Syndrome
|
ATS082
|
|
| Autosomal Dominant Robinow Syndrome 3
|
ATS328
|
DRS3
|
| Autosomal Dominant Secondary Polycythemia
|
ATS209
|
|
| Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related
|
ATS311
|
FJHN2
|
| Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related
|
ATS312
|
|
| Autosomal Genetic Disease
|
ATS009
|
|
| Autosomal Recessive Ataxia Due to Pex10 Deficiency
|
ATS074
|
|
| Autosomal Recessive Cerebellar Ataxia
|
ATS307
|
|
| Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity
|
ATS112
|
|
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Tud Deficiency
|
ATS195
|
SCAR23
|
| Autosomal Recessive Cerebral Atrophy
|
ATS179
|
|
| Autosomal Recessive Charcot Marie Tooth Disease Type 2x
|
ATS352
|
|
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
|
ATS314
|
|
| Autosomal Recessive Congenital Ichthyosis
|
ATS013
|
CIE
|
| Autosomal Recessive Congenital Stationary Night Blindness
|
ATS169
|
|
| Autosomal Recessive Disease
|
ATS010
|
|
| Autosomal Recessive Hypophosphatemic Rickets
|
ATS239
|
ARHR
|
| Autosomal Recessive Infantile Hypercalcemia
|
ATS125
|
|
| Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
|
ATS274
|
|
| Autosomal Recessive Isolated Optic Atrophy
|
ATS326
|
|
| Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis
|
ATS028
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy
|
ATS331
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
ATS298
|
LGMD3
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
|
ATS297
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
|
ATS280
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
|
ATS332
|
LGMD2W
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
|
ATS333
|
LGMD2X
|
| Autosomal Recessive Lymphoproliferative Disease
|
ATS229
|
|
| Autosomal Recessive Malignant Osteopetrosis
|
ATS282
|
|
| Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
|
ATS109
|
|
| Autosomal Recessive Myosclerosis Myopathy
|
ATS058
|
|
| Autosomal Recessive Non-Syndromic Intellectual Disability
|
ATS204
|
|
| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb
|
ATS252
|
|
| Autosomal Recessive Nonsyndromic Deafness
|
ATS006
|
|
| Autosomal Recessive Nonsyndromic Deafness 105
|
ATS335
|
DFNB105
|
| Autosomal Recessive Nonsyndromic Deafness 3
|
ATS336
|
DFNB3
|
| Autosomal Recessive Nonsyndromic Deafness 47
|
ATS337
|
|
| Autosomal Recessive Nonsyndromic Deafness 8
|
ATS338
|
DFNB8
|
| Autosomal Recessive Nonsyndromic Deafness 97
|
ATS339
|
DFNB97
|
| Autosomal Recessive Primary Microcephaly
|
ATS275
|
MCPH
|
| Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia
|
ATS030
|
|
| Autosomal Recessive Severe Congenital Neutropenia Due to Csf3r Deficiency
|
ATS244
|
|
| Autosomal Recessive Severe Congenital Neutropenia Due to Cxcr2 Deficiency
|
ATS245
|
|
| Autosomal Recessive Sideroblastic Anemia
|
ATS210
|
ARSA
|
| Autosomal Recessive Spastic Paraplegia Type 59
|
ATS185
|
SPG59
|
| Autosomal Recessive Spastic Paraplegia Type 60
|
ATS184
|
SPG60
|
| Autosomal Recessive Spastic Paraplegia Type 66
|
ATS190
|
SPG66
|
| Autosomal Recessive Spastic Paraplegia Type 67
|
ATS191
|
SPG67
|
| Autosomal Recessive Spastic Paraplegia Type 68
|
ATS186
|
SPG68
|
| Autosomal Recessive Spastic Paraplegia Type 69
|
ATS187
|
SPG69
|
| Autosomal Recessive Spastic Paraplegia Type 70
|
ATS188
|
SPG70
|
| Autosomal Recessive Spastic Paraplegia Type 71
|
ATS189
|
SPG71
|
| Autosomal Recessive Stickler Syndrome
|
ATS076
|
|
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
|
ATS285
|
|
| Autosomal Thrombocytopenia with Normal Platelets
|
ATS205
|
|
| Avascular Necrosis of the Femoral Head
|
AVS004
|
ANFH
|
| Avian Influenza
|
AVN001
|
|
| Avoidant Personality Disorder
|
AVD001
|
|
| Axenfeld-Rieger Syndrome, Type 1
|
AXN009
|
RIEG1
|
| Axenfeld-Rieger Syndrome, Type 3
|
AXN010
|
RIEG3
|
| Axial Osteomalacia
|
AXL003
|
|
| Axillary Adenitis
|
AXL002
|
|
| Axillary Lipoma
|
AXL001
|
|
| Axin2-Related Attenuated Familial Adenomatous Polyposis
|
AXN008
|
|
| Axonal Neuropathy
|
AXN001
|
|
| Ayme-Gripp Syndrome
|
AYM001
|
AYGRP
|
| Azathioprine or 6-Mercatopurine Toxicity or Dose Selection
|
AZT004
|
|
| Azoospermia
|
AZS001
|
|
