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
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