Disease Name Symbol Acronym
Aapoai Amyloidosis APM002
Aapoaii Amyloidosis APM001
Aarskog-Scott Syndrome ARS001 AAS
Abacavir Toxicity ABC017
Abcd Syndrome ABC001 ABCDS
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
Abducens Nerve Disease ABD002
Abetalipoproteinemia ABT001 ABL
Abidi X-Linked Mental Retardation Syndrome ABD008
Ablepharon-Macrostomia Syndrome ABL002 AMS
Abnormal Retinal Correspondence ABN001
Abnormality of Glucagon Secretion ABN002
Abruzzo-Erickson Syndrome ABR009 ABERS
Acalculous Cholecystitis ACL001
Acanthamoeba Keratitis ACN019
Acanthocephaliasis ACN005
Acanthoma ACN010
Acanthosis Nigricans ACN002 AN
Acatalasemia ACT209 ACATLAS
Accelerated Tumor Formation ACC008 ACTFS
Accommodative Esotropia ACC003
Accommodative Spasm ACC002
Aceruloplasminemia ACR006 ACERULOP
Acetaminophen Metabolism ACT149
Acetylation, Slow ACT133
Acetyl-Coa Acetyltransferase-2 Deficiency ACT239 ACAT2
Acetyl-Coa Carboxylase Deficiency ACT086 ACACAD
Achalasia ACH005
Achalasia, Familial Esophageal ACH015
Achalasia-Addisonianism-Alacrima Syndrome ACH022 AAAS
Acheiropody ACH001 ACHP
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
Achromatopsia ACH003 ACHM
Achromatopsia 2 ACH020 ACHM2
Achromatopsia 3 ACH021 ACHM3
Achromatopsia 4 ACH023 ACHM4
Achromatopsia 7 ACH038 ACHM7
Acid Phosphatase Deficiency ACD011
Acid Sphingomyelinase Deficiency ACD003
Acid-Labile Subunit Deficiency ACD008 ACLSD
Acidophil Adenoma ACD001
Acinar Cell Carcinoma ACN001
Acinar Cell Cystadenocarcinoma ACN007
Acne Inversa, Familial, 1 ACN018 ACNINV1
Acne Inversa, Familial, 2, with or Without Dowling-Degos Disease ACN030 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 Immunodeficiency Syndrome ACQ007 AIDS
Acquired Metabolic Disease ACQ009
Acquired Methemoglobinemia ACQ047
Acquired Polycythemia ACQ010
Acquired Pseudoxanthoma Elasticum ACQ026
Acquired Schizencephaly ACQ050
Acquired Thrombocytopenia ACQ005
Acquired Von Willebrand Syndrome ACQ017 AVWS
Acral Dystrophic Epidermolysis Bullosa ACR075
Acral Lentiginous Melanoma ACR014 ALM
Acral Self-Healing Collodion Baby ACR078
Acrocallosal Syndrome ACR008 ACLS
Acrocapitofemoral Dysplasia ACR002 ACFD
Acrocephalopolydactylous Dysplasia ACR025 ELEJAS
Acrocephalopolysyndactyly Type Iii ACR106
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
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
Acrokeratoderma, Hereditary Papulotranslucent ACR111
Acrokeratosis Verruciformis ACR004 AKV
Acroleukopathy, Symmetric ACR112
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 ACR062
Acropectoral Syndrome ACR019 ACRPS
Acropectorovertebral Dysplasia ACR020 ACRPV
Acrorenal Syndrome ACR072
Acth Deficiency, Isolated ACT238 IAD
Acth-Independent Macronodular Adrenal Hyperplasia ACT092 AIMAH1
Acth-Independent Macronodular Adrenal Hyperplasia 2 ACT202 AIMAH2
Acth-Secreting Pituitary Adenoma ACT010
Actinic Cheilitis ACT093
Actinic Keratosis ACT008
Actinic Prurigo ACT164 HPLE
Actinobacillosis ACT016
Actinomycosis ACT055 BOIL
Active Peptic Ulcer Disease ACT058
Actn3 Deficiency ACT240
Acute Adrenal Insufficiency ACT150
Acute Anterolateral Myocardial Infarction ACT052
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 Cervicitis ACT048
Acute Gonococcal Salpingitis ACT023
Acute Graft Versus Host Disease ACT135
Acute Hemorrhagic Conjunctivitis ACT012
Acute Hemorrhagic Encephalitis ACT065
Acute Hemorrhagic Leukoencephalitis ACT032 AHL
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 Leukemia ACT073
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 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 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 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 Proliferative Glomerulonephritis ACT079
Acute Promyelocytic Leukemia ACT119 APL
Acute Pulmonary Heart Disease ACT080
Acute Pyelonephritis ACT042
Acute Radiation Syndrome ACT228
Acute Respiratory Distress Syndrome ACT210 ALI
Acute Retinal Necrosis Syndrome ACT022
Acute Retrobulbar Neuritis ACT038
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 Urate Nephropathy ACT043
Acute Vascular Insufficiency of Intestine ACT060
Acute Zonal Occult Outer Retinopathy ACT120 AZOOR
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
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
Adcy5-Related Dyskinesia ADC005 FDFM
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 Cystic Carcinoma ADN011
Adenoid Hypertrophy ADN067
Adenoid Squamous Cell Carcinoma ADN013
Adenoiditis ADN002
Adenoma ADN018
Adenoma of Pancreas ADN072
Adenomatoid Tumor ADN014
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 Triphosphate, Elevated, of Erythrocytes ADN039 PKHYP
Adenosquamous Carcinoma ADN009
Adenosquamous Colon Carcinoma ADN006
Adenosquamous Gallbladder Carcinoma ADN005
Adenosquamous Lung Carcinoma ADN089
Adenosquamous Prostate Carcinoma ADN007
Adenylate Kinase Deficiency, Hemolytic Anemia Due to ADN085 HAAKD
Adenylosuccinase Deficiency ADN022 ADSLD
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 ADPND
Adiponectin, Serum Level of, Quantitative Trait Locus 2 ADP008 CAQ5
Adiponectin, Serum Level of, Quantitative Trait Locus 3 ADP009 CAQ14
Adiponectin, Serum Level of, Quantitative Trait Locus 4 ADP011
Adiponectin, Serum Level of, Quantitative Trait Locus 5 ADP012
Adiposis Dolorosa ADP001
Adjustment Disorder ADJ001
Adolescence-Adult Electroclinical Syndrome ADL051
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 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 Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete ADR056 AICSR
Adrenal Medulla Cancer ADR014
Adrenal Neuroblastoma ADR003
Adrenal Rest Tumor ADR001
Adrenocortical Carcinoma, Hereditary ADR054 ADCC
Adrenoleukodystrophy ADR007 ALD
Adrenomyeloneuropathy ADR022 AMN
Adult Acute Lymphocytic Leukemia ADL052
Adult Astrocytic Tumour ADL053
Adult Brain Stem Glioma ADL054
Adult Dermatomyositis ADL027
Adult Fibrosarcoma ADL019
Adult Hepatocellular Carcinoma ADL096
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 Pineal Parenchymal Tumor ADL056
Adult Pineoblastoma ADL025
Adult Polyglucosan Body Disease ADL060 APBD
Adult Respiratory Distress Syndrome ADL010 ARDS
Adult Syndrome ADL002 ADULT SYNDROME
Adult T-Cell Leukemia ADL017 ATLL
Adult Teratoma ADL057
Adult Xanthogranuloma ADL037
Adult-Onset Citrullinemia Type I ADL083
Adult-Onset Distal Myopathy Due to Vcp Mutation ADL074
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 ADV007 FASPS2
Advanced Sleep Phase Syndrome, Familial, 3 ADV006 FASPS3
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, 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, Non-Bruton Type AGM004
Agammaglobulinemia, X-Linked AGM019 XLA
Agammaglobulinemia, X-Linked, Type 2 AGM018 XLA2
Agenesis of the Corpus Callosum with Peripheral Neuropathy AGN003 ACCPN
Age-Related Hearing Impairment 1 AGR013 ARHI1
Age-Related Hearing Impairment 2 AGR014 ARHI2
Age-Related Hearing Loss AGR019
Aggressive Digital Papillary Adenocarcinoma AGG003
Aggressive Periodontitis AGG001
Aggressive Systemic Mastocytosis AGG002 ASM
Aging AGN016 AGING
Agnathia-Otocephaly Complex AGN012 AGOTC
Agnosia AGN002
Agoraphobia AGR002
Agraphia AGR018
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 Dementia Complex ADS004 ADC
Aids Wasting Syndrome ADS015
Ainhum ANH001
Akinetic Mutism AKN002
Akinetopsia AKN001
Al Amyloidosis ALM001
Al Kaissi Syndrome ALK023 ALKAS
Alacrima, Achalasia, and Mental Retardation Syndrome ALC028 AAMR
Alagille Syndrome 1 ALG028 ALGS1
Alagille Syndrome 2 ALG016 ALGS2
Aland Island Eye Disease ALN001 AIED
Alazami Syndrome ALZ030 ALAZS
Alazami-Yuan Syndrome ALZ044 ALYUS
Albinism ALB002
Albinism, Ocular, Type I ALB024 OA1
Albinism, Ocular, with Late-Onset Sensorineural Deafness ALB025 OASD
Albinism, 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
Albright's Hereditary Osteodystrophy ALB001 AHO
Alcohol Abuse ALC004
Alcohol Dependence ALC007
Alcohol Sensitivity, Acute ALC016
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
Aldosterone-Producing Adenoma ALD013
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
Alg12-Congenital Disorder of Glycosylation ALG019
Alg1-Congenital Disorder of Glycosylation ALG025 CDGIK
Al-Gazali-Bakalinova Syndrome ALG027 AGBK
Algoneurodystrophy ALG001
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
Alk-Negative Anaplastic Large Cell Lymphoma ALK016
Alk-Positive Anaplastic Large Cell Lymphoma ALK015
Alk-Positive Large B-Cell Lymphoma ALK017
Alkuraya-Kucinskas Syndrome ALK024 ALKKUCS
Allan-Herndon-Dudley Syndrome ALL001 MCT8 DEFICIENCY
Allergic Asthma ALL006
Allergic Bronchopulmonary Aspergillosis ALL008 ABPA
Allergic Conjunctivitis ALL009
Allergic Contact Dermatitis ALL010
Allergic Encephalomyelitis ALL014
Allergic Hypersensitivity Disease ALL026
Allergic Rhinitis ALL003 ALRH
Allergic Urticaria ALL007
Allopurinol Toxicity ALL025
Alobar Holoprosencephaly ALB014
Alopecia ALP008
Alopecia Areata ALP009 AA
Alopecia Areata 1 ALP039 AA1
Alopecia Areata 2 ALP040 AA2
Alopecia Totalis ALP048
Alopecia Universalis Congenita ALP097 ALUNC
Alopecia, Androgenetic, 1 ALP061 AGA
Alopecia, Androgenetic, 2 ALP036 AGA2
Alopecia, Androgenetic, 3 ALP037 AGA3
Alopecia, Congenital ALP099 ALPC
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome ALP041 ANES
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
Alpha Chain Disease ALP005
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-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 ALP101 A-THAL
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
Alport Syndrome ALP004 TBMN
Alport Syndrome 1, X-Linked ALP106 APSX
Alport Syndrome 2, Autosomal Recessive ALP105 APSAR
Alport Syndrome 3, Autosomal Dominant ALP104 APSAD
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome ALP085
Al-Raqad Syndrome ALR002 ARS
Als2-Related Disorders ALS003
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
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 AD3
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's Disease 1 ALZ063 AD1
Amaurosis Fugax AMR003
Amblyopia AMB002
Amebiasis AMB001
Amegakaryocytic Thrombocytopenia, Congenital AMG001 CAMT
Amelanotic Melanoma AML001
Ameloblastic Carcinoma AML004
Ameloblastoma AML029 AOT
Amelogenesis Imperfecta AML002 AI
Amelogenesis Imperfecta Hypomaturation Type AML005 AIH
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 Ij AML059 AI1J
Amelogenesis Imperfecta, Type Iv AML020 AI4
Amenorrhea AMN001
Ametropic Amblyopia AMT001
Amino Acid Metabolic Disorder AMN002
Aminoaciduria AMN006
Aminoacylase 1 Deficiency AMN007 ACY1D
Aminolevulinic Acid Dehydratase Deficiency Porphyria AMN017
Amme Complex AMM001 ATS-MR
Amnestic Disorder AMN003
Amoxicillin Allergy AMX001
Amphetamine Abuse AMP007
Ampulla of Vater Adenocarcinoma AMP009
Ampulla of Vater Cancer AMP013
Ampulla of Vater Neoplasm AMP003
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
Amyloidosis, Primary Localized Cutaneous, 3 AMY111 PLCA3
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 5 AMY022 ALS5
Amyotrophic Lateral Sclerosis Type 6 AMY023 ALS6
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 AMY027 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
Anaplastic Thyroid Cancer ANP031
Anauxetic Dysplasia 1 ANX007 AD
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, Partial AND020 PAIS
Androgenic Alopecia AND014
Anemia of Prematurity ANM001
Anemia, Autoimmune Hemolytic ANM038
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, Hypochromic Microcytic, with Iron Overload 1 ANM035 AHMIO1
Anemia, Hypochromic Microcytic, with Iron Overload 2 ANM027 AHMIO2
Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency ANM045 NSHA
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, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities ANM044 XLAWT
Anencephaly ANN002 ANPH
Aneurysm, Intracranial Berry, 1 ANR027 ANIB1
Aneurysm, Intracranial Berry, 10 ANR025
Aneurysm, Intracranial Berry, 11 ANR039
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
Angina Pectoris ANG054
Angiocentric Glioma ANG050
Angiodysplasia ANG011
Angioedema ANG015
Angioedema Induced by Ace Inhibitors ANG049 AEACEI
Angioedema, Hereditary, Type I ANG068 HAE
Angioedema, Hereditary, Type Iii ANG045 HAE3
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 Serpiginosum, X-Linked ANG029
Angioma, Tufted ANG065
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 1 ANR048 AN1
Aniridia 2 ANR047 AN2
Aniridia 3 ANR046 AN3
Anisakiasis ANS003
Aniseikonia ANS002
Anismus ANS018
Anisocoria ANS021
Anisomastia ANS015
Anisometropia ANS004
Ankrd26-Related Thrombocytopenia ANK019 THC2
Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate ANK017 AEC
Ankyloglossia ANK008
Ankylosis ANK001
Annular Erythema ANN011
Anodontia AND001
Anogenital Venereal Wart ANG005
Anomalous Left Coronary Artery from the Pulmonary Artery ANM031
Anophthalmos with Limb Anomalies ANP019
Anorchia ANR018
Anorectal Anomalies ANR033
Anorectal Stricture ANR003
Anorexia Nervosa ANR007 ANON
Anosmia, Isolated Congenital ANS017 ANIC
Anosognosia ANS006
Anovulation ANV001
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 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 Syndrome ANT013
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
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
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 Benign Neoplasm ANS025
Anus Cancer ANS011
Anus Disease ANS012
Anus, Imperforate ANS023
Anxiety ANX010
Aortic Aneurysm ART016
Aortic Aneurysm, Familial Abdominal, 1 ART138 AAA
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 Atherosclerosis ART004
Aortic Coarctation ART031
Aortic Disease ART017
Aortic Valve Atresia ART095
Aortic Valve Disease 1 ART115 AOVD1
Aortic Valve Disease 2 ART101 AOVD2
Aortic Valve Insufficiency ART018
Aortic Valve Prolapse ART015
Aortitis ART012
Ap-4-Associated Hereditary Spastic Paraplegia AP4001
Apert Syndrome APR006 APRS
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
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
Apolipoprotein C-Ii Deficiency APL017 HLPP1B
Apolipoprotein C-Iii Deficiency APL024 HALP2
Apparent Mineralocorticoid Excess APP015 AME
Appendiceal Neoplasm APP003
Appendicitis APP008
Appendix Adenocarcinoma APP009
Appendix Cancer APP010
Appendix Carcinoid Tumor APP013
Appendix Disease APP018
Appendix Lymphoma APP002
Apperceptive Agnosia APP006
Apple Allergy APP016
Apraxia APR001
Aquagenic Syringeal Acrokeratoderm AQG003
Aqueous Misdirection AQS001
Arachnoid Cysts ARC007
Arachnoiditis ARC002
Arcus Corneae ARC023
Aregenerative Anemia ARG006
Arena Syndrome ARN001
Argentine Hemorrhagic Fever ARG001
Argininemia ARG007 ARGIN
Argininosuccinic Aciduria ARG002 ARGINSA
Arhinia Choanal Atresia Microphthalmia ARH001
Ariboflavinosis ARB001
Arima Syndrome ARM010
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, 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 ARVC3
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 ARR048 ARVC4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 ARR018 ARVD5
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 ARR049 ARVC6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 ARR050 ARVD8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 ARR023 ARVD9
Arterial Calcification of Infancy ART035 GACI
Arterial Calcification, Generalized, of Infancy, 1 ART106 GACI1
Arterial Calcification, Generalized, of Infancy, 2 ART102 GACI2
Arterial Tortuosity Syndrome ART001 ATS
Arteries, Anomalies of ART140
Arteriolosclerosis ART010
Arteriosclerosis ART021
Arteriosclerosis Obliterans ART008
Arteriovenous Fistula ART084
Arteriovenous Malformation ART005
Arteriovenous Malformations of the Brain ART141 BAVM
Arteritic Anterior Ischemic Optic Neuropathy ART110
Arthritis ART022
Arthrogryposis Multiplex Congenita, Neurogenic Type ART127 AMCN
Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect ART137 AMCNMY
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development ART154
Arthrogryposis, Distal, Type 1a ART144 DA1A
Arthrogryposis, Distal, Type 1b ART060 DA1B
Arthrogryposis, Distal, Type 2a ART061 DA2A
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 7 ART147 DA7
Arthrogryposis, Distal, Type 8 ART122 DA8
Arthrogryposis, Distal, Type 9 ART146 DA9
Arthrogryposis, Distal, with Impaired Proprioception and Touch ART136 DAIPT
Arthrogryposis, Mental Retardation, and Seizures ART103 AMRS
Arthrogryposis, Perthes Disease, and Upward Gaze Palsy ART135 APUG
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 ART062 ARCS1
Arthrogryposis, Renal Dysfunction, and Cholestasis 2 ART063 ARCS2
Arthropathy ART023
Arthropathy, Erosive ART077
Arthropathy, Progressive Pseudorheumatoid, of Childhood ART116 PPAC
Arthus Reaction ART006
Articulation Disorder ART014
Arts Syndrome ART002 ARTS
Aryl Hydrocarbon Hydroxylase Inducibility ARY002 AHHI
Asbestosis ASB001
Asbestos-Related Lung Carcinoma ASB002
Ascaridiasis ASC001
Ascaris Lumbricoides Infection ASC010
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
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
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
Associative Agnosia ASS001
Astereognosia AST004
Asthenopia AST003
Asthma AST005 ASTHMA
Asthma, Nasal Polyps, and Aspirin Intolerance AST052 ANPAI
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
Astroblastoma AST002
Astrocytoma AST007
Asymmetric Motor Neuropathy ASY004
Asymptomatic Dengue ASY001
Asymptomatic Neurosyphilis ASY002
Ataxia and Polyneuropathy, Adult-Onset ATX038 APAO
Ataxia Neuropathy Spectrum ATX010 ANS
Ataxia with Vitamin E Deficiency ATX019 AVED
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus ATX031 ACPHD
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia ATX029 AOA
Ataxia, Sensory, 1, Autosomal Dominant ATX023 SNAX1
Ataxia-Oculomotor Apraxia 3 ATX024 AOA3
Ataxia-Oculomotor Apraxia 4 ATX033 AOA4
Ataxia-Pancytopenia Syndrome ATX039 ATXPC
Ataxia-Telangiectasia ATX030 AT
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
Atherosclerosis Susceptibility ATH013 ALP
Athetosis ATH004
Athyreosis ATH010
Atlantoaxial Subluxation ATL010
Atopic Keratoconjunctivitis ATP013
Atp6v0a2-Related Cutis Laxa ATP003
Atp8b1 Deficiency ATP014
Atransferrinemia ATR002 ATRAF
Atrial Fibrillation ATR011 A-FIB
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 Septal Defect 1 ATR062 ASD
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 Ostium Primum ATR018
Atrial Septal Defect Sinus Venosus ATR019
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 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 Muscular Disease ATR076
Atrophic Rhinitis ATR003 OZENA
Atrophoderma Vermiculata ATR054 AVA
Atrophy of Prostate ATR008
Atrophy of Testis ATR009
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 Chédiak-Higashi Syndrome ATT012
Attenuated Familial Adenomatous Polyposis ATT003 AAPC
Atypical Autism ATY003 PDD
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
Atypical Mycobacteriosis, Familial ATY012 MSMD
Atypical Neurofibroma ATY004
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
Auriculo-Condylar Syndrome ARC008
Auriculocondylar Syndrome 1 ARC016 ARCND1
Auriculocondylar Syndrome 2 ARC011 ARCND2
Auriculocondylar Syndrome 3 ARC017 ARCND3
Autism ATS364
Autism 10 ATS172
Autism 11 ATS373
Autism 12 ATS374
Autism 13 ATS375
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 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
Autoimmune Addison Disease ATM078
Autoimmune Atherosclerosis ATM103
Autoimmune Atrophic Gastritis ATM060
Autoimmune Autonomic Ganglionopathy ATM074
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 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, 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 Enteropathy ATM020
Autoimmune Gastritis ATM101
Autoimmune Glomerulonephritis ATM045
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 Iia ATM097 ALPS2A
Autoimmune Lymphoproliferative Syndrome, Type Iii ATM083 ALPS3
Autoimmune Lymphoproliferative Syndrome, Type V ATM082 ALPS5
Autoimmune Myocarditis ATM022
Autoimmune Neuropathy ATM089
Autoimmune Optic Neuritis ATM100
Autoimmune Pancreatitis ATM024 AIP
Autoimmune Peripheral Neuropathy ATM098
Autoimmune Polyendocrine Syndrome ATM019
Autoimmune Polyendocrine Syndrome Type 1 ATM002 APS 1
Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia ATM096 APS1
Autoimmune Polyendocrine Syndrome, Type Ii ATM092 APS2
Autoimmune Polyglandular Syndrome Type 3 ATM061 APS3
Autoimmune Retinopathy ATM076
Autoimmune Thyroid Disease 1 ATM056 AITD1
Autoimmune Thyroid Disease 2 ATM057 AITD2
Autoimmune Thyroid Disease 3 ATM050 AITD3
Autoimmune Thyroid Disease 4 ATM058 AITD4
Autoimmune Uveitis ATM099
Autoimmune Vasculitis ATM104
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, Familial, Behcet-Like ATN012 AISBL
Autonomic Nervous System Benign Neoplasm ATN017
Autonomic Nervous System Disease ATN002
Autonomic Nervous System Neoplasm ATN003
Autonomic Neuropathy ATN004
Autonomic Peripheral Neuropathy ATN001
Autosomal Dominant Alport Syndrome ATS015
Autosomal Dominant Café Au Lait Spots ATS270 NF6
Autosomal Dominant Cerebellar Ataxia ATS308 SCA
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 Congenital Stationary Night Blindness ATS168
Autosomal Dominant Disease ATS008
Autosomal Dominant Distal Axonal Motor Neuropathy-Myofibrillar Myopathy Syndrome ATS357
Autosomal Dominant Epidermolytic Ichthyosis ATS411 EI
Autosomal Dominant Epilepsy with Auditory Features ATS301 ADEAF
Autosomal Dominant Intermediate Charcot-Marie-Tooth ATS272 CMTDI
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain ATS093
Autosomal Dominant Limb-Girdle Muscular Dystrophy ATS330
Autosomal Dominant Macrothrombocytopenia ATS208
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency ATS105
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 Nonsyndromic Deafness ATS005
Autosomal Dominant Non-Syndromic Intellectual Disability ATS203
Autosomal Dominant Non-Syndromic Intellectual Disability 1 ATS383 MRD1
Autosomal Dominant Non-Syndromic Intellectual Disability 2 ATS384 MRD2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 ATS385 MRD3
Autosomal Dominant Non-Syndromic Intellectual Disability 4 ATS386 MRD4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 ATS387 MRD5
Autosomal Dominant Non-Syndromic Intellectual Disability 6 ATS388 MRD6
Autosomal Dominant Non-Syndromic Intellectual Disability 9 ATS390 MRD9
Autosomal Dominant Optic Atrophy Plus Syndrome ATS069
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 Secondary Polycythemia ATS209
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 Umod Mutations ATS420 FJHN
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related ATS312 MCKD2
Autosomal Genetic Disease ATS009
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 Cerebellar Ataxia ATS307
Autosomal Recessive Cerebellar Ataxia with Late-Onset Spasticity ATS112
Autosomal Recessive Cerebral Atrophy ATS179
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome ATS314
Autosomal Recessive Complex Spastic Paraplegia Due to Kennedy Pathway Dysfunction ATS405
Autosomal Recessive Congenital Ichthyosis ATS013 LI
Autosomal Recessive Congenital Stationary Night Blindness ATS169
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 Disease ATS010
Autosomal Recessive Epidermolytic Ichthyosis ATS416 AREI
Autosomal Recessive Hypophosphatemic Rickets ATS239 ARHR
Autosomal Recessive Intellectual Disability 58 ATS360
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease ATS274
Autosomal Recessive Isolated Optic Atrophy ATS326
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 Lymphoproliferative Disease ATS229
Autosomal Recessive Malignant Osteopetrosis ATS282
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita ATS109
Autosomal Recessive Nonsyndromic Deafness ATS006
Autosomal Recessive Nonsyndromic Deafness 3 ATS336 DFNB3
Autosomal Recessive Nonsyndromic Deafness 32 ATS409
Autosomal Recessive Nonsyndromic Deafness 36 ATS380
Autosomal Recessive Nonsyndromic Deafness 86 ATS381
Autosomal Recessive Non-Syndromic Intellectual Disability ATS204
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb ATS252
Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2 ATS406 AISA
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 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 Femoral Head, Primary, 1 AVS006 ANFH1
Avascular Necrosis of Femoral Head, Primary, 2 AVS005 ANFH2
Avian Influenza AVN001
Avoidant Personality Disorder AVD001
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 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
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