Disease Name Symbol Acronym
Aapoai Amyloidosis APM002
Aapoaii Amyloidosis APM001
Aarskog-Scott Syndrome ARS001
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
Abca4-Related Stargardt Disease 1 ABC008
Abcb1-Related Altered Drug Metabolism ABC018
Abcb11-Related Intrahepatic Cholestasis ABC009
Abcc2-Related Altered Drug Metabolism ABC019
Abcc4-Related Altered Drug Metabolism ABC020
Abcc8-Related Hyperinsulinism ABC010
Abcc8-Related Permanent Neonatal Diabetes Mellitus ABC011
Abcc8-Related Transient Neonatal Diabetes Mellitus 2 ABC012
Abcc9-Related Dilated Cardiomyopathy ABC013
Abcc9-Related Familial Atrial Fibrillation ABC015
Abcd Syndrome ABC001
Abdominal Aortic Aneurysm ABD003
Abdominal Obesity-Metabolic Syndrome 1 ABD014
Abdominal Obesity-Metabolic Syndrome 3 ABD013
Abdominal Tuberculosis ABD004
Abetalipoproteinemia ABT001
Abidi X-Linked Mental Retardation Syndrome ABD008
Abl1 Kd-Related Altered Drug Metabolism ABL003
Ablepharon-Macrostomia Syndrome ABL002
Abnormal Retinal Correspondence ABN001
Abnormality of Glucagon Secretion ABN002
Abrikosov's Tumor ABR002
Abruzzo-Erickson Syndrome ABR009
Acalculous Cholecystitis ACL001
Acanthamoeba Keratitis ACN019
Acanthocephaliasis ACN005
Acanthoma ACN010
Acanthosis Nigricans ACN002
Acat2 Deficiency ACT085
Acatalasemia ACT209
Accelerated Tumor Formation ACC008
Accommodative Esotropia ACC003
Accommodative Spasm ACC002
Acd-Related Dyskeratosis Congenita ACD010
Acdc ACD004
Aceruloplasminemia ACR006
Acetyl-Coa Carboxylase Deficiency ACT086
Acetyl-Coa Carboxylase-Beta Deficiency ACT218
Achalasia ACH005
Achalasia-Addisonianism-Alacrimia Syndrome ACH037
Achalasia, Familial Esophageal ACH015
Acheiropody ACH001
Achondrogenesis ACH011
Achondrogenesis Ib ACH035
Achondrogenesis, Type Ia ACH033
Achondrogenesis, Type Ii or Hypochondrogenesis ACH032
Achondroplasia ACH004
Achromatopsia ACH003
Achromatopsia 5 ACH024
Achromatopsia 7 ACH038
Achromatopsia-2 ACH034
Achromatopsia-3 ACH036
Achromatopsia-4 ACH025
Acid Sphingomyelinase Deficiency ACD003
Acid-Labile Subunit, Deficiency of ACD009
Acidophil Adenoma ACD001
Acinar Cell Carcinoma ACN001
Acinar Cell Cystadenocarcinoma ACN007
Acne ACN011
Acne Inversa, Familial, 1 ACN018
Acne Inversa, Familial, 2 ACN017
Acne Inversa, Familial, 3 ACN016
Acneiform Dermatitis ACN003
Acoustic Neuroma ACS001
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
Acquired Immunodeficiency Syndrome ACQ007
Acquired Metabolic Disease ACQ009
Acquired Polycythemia ACQ010
Acquired Pseudoxanthoma Elasticum ACQ026
Acquired Thrombocytopenia ACQ005
Acquired Von Willebrand Syndrome ACQ017
Acral Dystrophic Epidermolysis Bullosa ACR075
Acral Lentiginous Melanoma ACR014
Acral Self-Healing Collodion Baby ACR078
Acro-Renal-Ocular Syndrome ACR059
Acrocallosal Syndrome ACR008
Acrocapitofemoral Dysplasia ACR002
Acrocephalosyndactylia ACR015
Acrodermatitis ACR005
Acrodermatitis Chronica Atrophicans ACR097
Acrodermatitis Continua Suppurativa of Hallopeau ACR068
Acrodermatitis Enteropathica ACR003
Acrodysostosis ACR013
Acrodysostosis 1, with or Without Hormone Resistance ACR066
Acrodysostosis 2, with or Without Hormone Resistance ACR067
Acrodysostosis with Multiple Hormone Resistance ACR079
Acrofacial Dysostosis ACR017
Acrofacial Dysostosis 1, Nager Type ACR058
Acrofacial Dysostosis, Cincinnati Type ACR095
Acrofrontofacionasal Dysostosis ACR093
Acrogeria, Gottron Type ACR034
Acrokeratosis Verruciformis ACR004
Acromegaloid Facial Appearance Syndrome ACR037
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia ACR089
Acromegaloid Hypertrichosis Syndrome ACR039
Acromegaly ACR007
Acromelic Frontonasal Dysostosis ACR041
Acromesomelic Dysplasia ACR016
Acromesomelic Dysplasia, Demirhan Type ACR096
Acromesomelic Dysplasia, Hunter-Thompson Type ACR009
Acromesomelic Dysplasia, Maroteaux Type ACR011
Acromicric Dysplasia ACR043
Acropectoral Syndrome ACR019
Acropectorovertebral Dysplasia ACR020
Acrorenal Syndrome ACR072
Acta1-Related Congenital Fiber-Type Disproportion ACT121
Acta1-Related Nemaline Myopathy ACT122
Acta2-Related Thoracic Aortic Aneurysms and Aortic Dissections ACT123
Actc1-Related Dilated Cardiomyopathy ACT124
Actc1-Related Familial Hypertrophic Cardiomyopathy ACT125
Actg2 ACT226
Actg2-Related Disorders ACT215
Acth Deficiency ACT087
Acth-Independent Macronodular Adrenal Hyperplasia ACT092
Acth-Independent Macronodular Adrenal Hyperplasia 2 ACT202
Actinic Cheilitis ACT093
Actinic Keratosis ACT008
Actinic Prurigo ACT164
Actinobacillosis ACT016
Actinomycosis ACT055
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 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 Disseminated Encephalomyelitis ACT049
Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion ACT191
Acute Endometritis ACT069
Acute Endophthalmitis ACT047
Acute Erythroid Leukemia ACT098
Acute Frontal Sinusitis ACT035
Acute Generalized Exanthematous Pustulosis ACT167
Acute Gonococcal Salpingitis ACT023
Acute Graft Versus Host Disease ACT135
Acute Hemorrhagic Conjunctivitis ACT012
Acute Hemorrhagic Encephalitis ACT065
Acute Hemorrhagic Leukoencephalitis ACT032
Acute Inflammation of Lacrimal Passage ACT070
Acute Insulin Response ACT088
Acute Interstitial Pneumonia ACT029
Acute Kidney Failure ACT071
Acute Kidney Tubular Necrosis ACT003
Acute Laryngitis ACT072
Acute Leukemia ACT073
Acute Leukemia of Ambiguous Lineage ACT216
Acute Liver Failure ACT134
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
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 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
Acute Myeloid Leukemia, Kit-Related ACT220
Acute Myeloid Leukemia, Somatic Dnmt3a-Related ACT221
Acute Myeloid Leukemia, Susceptibility, Gata2-Related ACT157
Acute Myelomonocytic Leukemia ACT117
Acute Myocardial Infarction ACT075
Acute Myocarditis ACT076
Acute Necrotizing Encephalitis ACT064
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
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 Urate Nephropathy ACT043
Acute Vascular Insufficiency of Intestine ACT060
Acute Zonal Occult Outer Retinopathy ACT120
Acvr2b-Related Visceral Heterotaxy ACV001
Acvrl1-Related Hereditary Hemorrhagic Telangiectasia ACV002
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of ACY006
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of ACY005
Adamantinoid Basal Cell Epithelioma ADM002
Adamantinoma of Long Bones ADM013
Adamantinous Craniopharyngioma ADM001
Adams-Oliver Syndrome ADM011
Adams-Oliver Syndrome 1 ADM005
Adams-Oliver Syndrome 2 ADM007
Adams-Oliver Syndrome 3 ADM008
Adams-Oliver Syndrome 4 ADM009
Adams-Oliver Syndrome 5 ADM010
Adams-Oliver Syndrome 6 ADM012
Adamts10-Related Weill-Marchesani Syndrome ADM006
Adamtsl4-Related Eye Disorders ADM003
Adar-Related Aicardi-Goutieres Syndrome ADR045
Adck3-Related Coenzyme Q10 Deficiency ADC006
Adcy5-Related Dyskinesia ADC005
Addison's Disease ADD001
Adducted Thumbs Syndrome ADD006
Adenine Phosphoribosyltransferase Deficiency ADN024
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
Adenomas, Salivary Gland Pleomorphic ADN038
Adenomatoid Tumor ADN014
Adenomatous Polyposis Coli ADN021
Adenomyoma ADN075
Adenomyosis ADN027
Adenosarcoma ADN020
Adenosine Deaminase 2 Deficiency ADN077
Adenosine Deaminase Deficiency ADN001
Adenosine Monophosphate Deaminase 1 Deficiency ADN029
Adenosine Monophosphate Deaminase Deficiency Erythrocyte Type ADN069
Adenosine Triphosphate, Elevated, of Erythrocytes ADN039
Adenosquamous Carcinoma ADN009
Adenosquamous Cell Lung Carcinoma ADN010
Adenosquamous Gallbladder Carcinoma ADN005
Adenosquamous Pancreas Carcinoma ADN008
Adenosquamous Prostate Carcinoma ADN007
Adenylosuccinase Deficiency ADN022
Adermatoglyphia ADR038
Adh1c-Related Parkinson Disease Susceptibility ADH005
Adhesions of Uterus ADH001
Adiaspiromycosis ADS001
Adie Pupil ADP007
Adiponectin Deficiency ADP002
Adiposis Dolorosa ADP001
Adjustment Disorder ADJ001
Adnp-Related Intellectual Disability and Autism Spectrum Disorder ADN076
Adolescence-Adult Electroclinical Syndrome ADL051
Adolescent Idiopathic Scoliosis ADL086
Adolescent-Onset Dystonia of Mixed Type ADL094
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
Adrenal Cortical Hypofunction ADR010
Adrenal Gland Disease ADR012
Adrenal Gland Hyperfunction ADR013
Adrenal Gland Pheochromocytoma ADR040
Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency ADR043
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency ADR042
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism ADR026
Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete ADR044
Adrenal Medulla Cancer ADR014
Adrenal Neuroblastoma ADR003
Adrenal Rest Tumor ADR001
Adrenocortical Insufficiency, Without Ovarian Defect ADR037
Adrenocorticotropic Hormone Deficiency ADR021
Adrenoleukodystrophy ADR007
Adrenomyeloneuropathy ADR022
Adult Acute Lymphocytic Leukemia ADL052
Adult Astrocytic Tumour ADL053
Adult Dermatomyositis ADL027
Adult Fibrosarcoma ADL019
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
Adult Neuronal Ceroid Lipofuscinosis ADL066
Adult Oligodendroglioma ADL008
Adult Polyglucosan Body Disease ADL060
Adult Respiratory Distress Syndrome ADL010
Adult Spinal Muscular Atrophy ADL016
Adult Syndrome ADL002
Adult T-Cell Leukemia ADL017
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
Advanced Sleep Phase Syndrome ADV001
Advanced Sleep Phase Syndrome, Familial, 1 ADV003
Advanced Sleep-Phase Syndrome, Familial, 2 ADV002
Afferent Loop Syndrome AFF001
Afib Amyloidosis AFB003
Afibrinogenemia AFB001
Afibrinogenemia, Congenital AFB002
African Histoplasmosis AFR001
African Tick-Bite Fever AFR002
Agammaglobulinemia AGM001
Agammaglobulinemia 1 AGM011
Agammaglobulinemia 2 AGM012
Agammaglobulinemia 3 AGM009
Agammaglobulinemia 4 AGM007
Agammaglobulinemia 5 AGM008
Agammaglobulinemia 6 AGM010
Agammaglobulinemia 7, Autosomal Recessive AGM015
Agammaglobulinemia 8, Autosomal Dominant AGM017
Agammaglobulinemia and Isolated Hormone Deficiency AGM006
Agammaglobulinemia, Non-Bruton Type AGM004
Agammaglobulinemia, X-Linked 1 AGM005
Age-Related Hearing Impairment 1 AGR013
Age-Related Hearing Impairment 2 AGR014
Agenesis of the Corpus Callosum with Peripheral Neuropathy AGN003
Agenesis of the Dorsal Pancreas AGN005
Aggressive Digital Papillary Adenocarcinoma AGG003
Aggressive Periodontitis AGG001
Aggressive Systemic Mastocytosis AGG002
Agnathia-Otocephaly Complex AGN012
Agnosia AGN002
Agoraphobia AGR002
Agraphia AGR018
Agrn-Related Congenital Myasthenic Syndrome AGR012
Ahi1-Related Joubert Syndrome AH1001
Aica-Ribosiduria Due to Atic Deficiency ACR021
Aicardi Syndrome ACR012
Aicardi-Goutieres Syndrome ACR001
Aicardi-Goutieres Syndrome 1, Dominant and Recessive ACR061
Aicardi-Goutieres Syndrome 2 ACR090
Aicardi-Goutieres Syndrome 3 ACR088
Aicardi-Goutieres Syndrome 4 ACR091
Aicardi-Goutieres Syndrome 5 ACR092
Aicardi-Goutieres Syndrome 6 ACR081
Aicardi-Goutieres Syndrome 7 ACR084
Aids Dementia Complex ADS004
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
Akt2-Related Familial Partial Lipodystrophy AKT001
Al Amyloidosis ALM001
Al-Raqad Syndrome ALR002
Alacrima, Achalasia, and Mental Retardation Syndrome ALC028
Alagille Syndrome ALG002
Alagille Syndrome 2 ALG016
Aland Island Eye Disease ALN001
Alazami Syndrome ALZ030
Albinism ALB002
Albinism-Deafness Syndrome ALB003
Albinism, Oculocutaneous, Type Ia ALB009
Albinism, Oculocutaneous, Type Ib ALB010
Albinism, Oculocutaneous, Type Ii ALB021
Albinism, Oculocutaneous, Type Iii ALB020
Albinism, Oculocutaneous, Type Iv ALB019
Albinism, Oculocutaneous, Type V ALB015
Albinism, Oculocutaneous, Type Vi ALB017
Albinism, Oculocutaneous, Type Vii ALB016
Albright's Hereditary Osteodystrophy ALB001
Alcohol Abuse ALC004
Alcohol Dependence ALC007
Alcohol Sensitivity, Acute ALC016
Alcohol-Induced Mental Disorder ALC013
Alcohol-Related Birth Defect ALC001
Alcohol-Related Neurodevelopmental Disorder ALC002
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
Aleukemic Leukemia Cutis ALK003
Aleukemic Mast Cell Leukemia ALK014
Aleukemic Monocytic Leukemia Cutis ALK002
Aleutian Mink Disease ALT002
Alexander Disease ALX003
Alexander Disease Type I ALX007
Alexander Disease Type Ii ALX006
Alexia ALX001
Alexithymia ALX002
Alg1-Congenital Disorder of Glycosylation ALG025
Alg14-Related Congenital Myasthenic Syndrome Without Tubular Aggregates ALG023
Alg6-Congenital Disorder of Glycosylation ALG024
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
Allan-Herndon-Dudley Syndrome ALL001
Allergic Asthma ALL006
Allergic Bronchopulmonary Aspergillosis ALL008
Allergic Conjunctivitis ALL009
Allergic Contact Dermatitis ALL010
Allergic Cutaneous Vasculitis ALL002
Allergic Encephalomyelitis ALL014
Allergic Hypersensitivity Disease ALL026
Allergic Rhinitis ALL003
Allergic Urticaria ALL007
Allopurinol Toxicity ALL025
Alobar Holoprosencephaly ALB014
Alopecia ALP008
Alopecia and T-Cell Immunodeficiency ALP030
Alopecia Areata ALP009
Alopecia Areata 1 ALP039
Alopecia Areata 2 ALP040
Alopecia Totalis ALP048
Alopecia Universalis ALP001
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
Alox12b-Related Autosomal Recessive Congenital Ichthyosis ALX004
Aloxe3-Related Autosomal Recessive Congenital Ichthyosis ALX005
Alpha Chain Disease ALP005
Alpha-1-Antichymotrypsin Deficiency ALP044
Alpha-2-Macroglobulin Deficiency ALP062
Alpha-2-Plasmin Inhibitor Deficiency ALP043
Alpha-B Crystallin-Related Late-Onset Distal Myopathy ALP069
Alpha-Fetoprotein Deficiency ALP072
Alpha-Fetoprotein, Hereditary Persistence of ALP088
Alpha-Ketoglutarate Dehydrogenase Deficiency ALP011
Alpha-Mannosidosis, Adult Form ALP056
Alpha-Mannosidosis, Infantile Form ALP055
Alpha-Methylacetoacetic Aciduria ALP077
Alpha-Methylacyl-Coa Racemase Deficiency ALP012
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic ALP034
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome ALP016
Alpha-Thalassemia/mental Retardation Syndrome ALP014
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
Alport Syndrome ALP004
Alport Syndrome and Thin Basement Membrane Nephropathy ALP047
Alport Syndrome, Autosomal Dominant ALP074
Alport Syndrome, Autosomal Recessive ALP073
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis ALP035
Als2-Related Disorders ALS003
Als5-Related Amyotrophic Lateral Sclerosis ALS007
Alstrom Syndrome ALS001
Alternating Esotropia ALT004
Alternating Exotropia ALT003
Alternating Hemiplegia of Childhood ALT001
Alternating Hemiplegia of Childhood 2 ALT007
Alveolar Capillary Dysplasia ALV006
Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins ALV007
Alveolar Echinococcosis ALV002
Alveolar Periostitis ALV001
Alveolar Soft-Part Sarcoma ALV010
Alzheimer Disease ALZ034
Alzheimer Disease 12 ALZ012
Alzheimer Disease 16 ALZ014
Alzheimer Disease 17 ALZ031
Alzheimer Disease 18 ALZ032
Alzheimer Disease 19, Late Onset ALZ033
Alzheimer Disease Mitochondrial ALZ029
Alzheimer Disease Risk Factor ALZ008
Alzheimer Disease Type 1 ALZ002
Alzheimer Disease-2 ALZ037
Alzheimer Disease-4 ALZ035
Alzheimer Disease, Type 3 ALZ036
Amaurosis Fugax AMR003
Amblyopia AMB002
Amebiasis AMB001
Amelanotic Melanoma AML001
Ameloblastic Carcinoma AML004
Ameloblastoma AML029
Amelogenesis Imperfecta AML002
Amelogenesis Imperfecta Hypomaturation Type AML005
Amelogenesis Imperfecta Nephrocalcinosis AML009
Amelogenesis Imperfecta, Type 1e AML016
Amelogenesis Imperfecta, Type Ia AML047
Amelogenesis Imperfecta, Type Ib AML017
Amelogenesis Imperfecta, Type Ic AML018
Amelogenesis Imperfecta, Type if AML050
Amelogenesis Imperfecta, Type Ig AML044
Amelogenesis Imperfecta, Type Ih AML048
Amelogenesis Imperfecta, Type Iia1 AML024
Amelogenesis Imperfecta, Type Iia2 AML023
Amelogenesis Imperfecta, Type Iia3 AML043
Amelogenesis Imperfecta, Type Iia4 AML049
Amelogenesis Imperfecta, Type Iia5 AML046
Amelogenesis Imperfecta, Type Iii AML019
Amelogenesis Imperfecta, Type Iv AML020
Amenorrhea AMN001
Ametropic Amblyopia AMT001
Amino Acid Metabolic Disorder AMN002
Aminoaciduria AMN006
Aminoacylase 1 Deficiency AMN007
Amish Infantile Epilepsy Syndrome AMS002
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
Amyloidosis, Finnish Type AMY084
Amyloidosis, Hereditary, Transthyretin-Related AMY087
Amyloidosis, Primary Localized Cutaneous, 1 AMY060
Amyloidosis, Primary Localized Cutaneous, 2 AMY056
Amyotrophic Lateral Sclerosis 1 AMY091
Amyotrophic Lateral Sclerosis 10, with or Without Ftd AMY040
Amyotrophic Lateral Sclerosis 11 AMY083
Amyotrophic Lateral Sclerosis 12 AMY062
Amyotrophic Lateral Sclerosis 14, with or Without Frontotemporal Dementia AMY061
Amyotrophic Lateral Sclerosis 15, with or Without Frontotemporal Dementia AMY068
Amyotrophic Lateral Sclerosis 16, Juvenile AMY057
Amyotrophic Lateral Sclerosis 17 AMY055
Amyotrophic Lateral Sclerosis 18 AMY067
Amyotrophic Lateral Sclerosis 19 AMY059
Amyotrophic Lateral Sclerosis 2, Juvenile AMY058
Amyotrophic Lateral Sclerosis 20 AMY063
Amyotrophic Lateral Sclerosis 21 AMY069
Amyotrophic Lateral Sclerosis 22 with or Without Frontotemoral Dementia AMY092
Amyotrophic Lateral Sclerosis 3 AMY088
Amyotrophic Lateral Sclerosis 4, Juvenile AMY045
Amyotrophic Lateral Sclerosis 5, Juvenile AMY094
Amyotrophic Lateral Sclerosis 6, with or Without Frontotemporal Dementia AMY095
Amyotrophic Lateral Sclerosis 7 AMY089
Amyotrophic Lateral Sclerosis 8 AMY090
Amyotrophic Lateral Sclerosis 9 AMY085
Amyotrophic Lateral Sclerosis Type 10 AMY019
Amyotrophic Lateral Sclerosis Type 14 AMY074
Amyotrophic Lateral Sclerosis Type 15 AMY079
Amyotrophic Lateral Sclerosis Type 16 AMY080
Amyotrophic Lateral Sclerosis Type 2 AMY008
Amyotrophic Lateral Sclerosis Type 4 AMY071
Amyotrophic Lateral Sclerosis Type 5 AMY022
Amyotrophic Lateral Sclerosis Type 6 AMY023
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex AMY066
Amyotrophic Neuralgia AMY003
Amyotrophy, Hereditary Neuralgic AMY086
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
Anal Squamous Cell Carcinoma ANL017
Analbuminemia ANL018
Anaplastic Ependymoma ANP006
Anaplastic Ganglioglioma ANP007
Anaplastic Large Cell Lymphoma ANP001
Anaplastic Oligoastrocytoma ANP008
Anaplastic Oligodendroglioma ANP009
Anauxetic Dysplasia ANX001
Anca-Associated Vasculitis ANC002
Ancylostomiasis ANC001
Andersen Syndrome AND016
Andersen Syndrome Type 1 AND007
Androgen Insensitivity AND015
Androgen Insensitivity, Partial, with or Without Breast Cancer AND010
Androgenic Alopecia AND014
Anemia of Prematurity ANM001
Anemia, Hemolytic, Due to Umph1 Deficiency ANM012
Anemia, Hemolytic, Rh-Null, Regulator Type ANM009
Anemia, Hypochromic Microcytic ANM030
Anemia, Hypochromic Microcytic, with Iron Overload 2 ANM027
Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive ANM028
Anemia, Sideroblastic, with Ataxia ANM008
Anemia, Sideroblastic, X-Linked ANM029
Anemia, X-Linked, with/without Neutropenia and/or Platelet Abnormalities ANM026
Anencephaly ANN002
Aneurysm ANR040
Aneurysm, Intracranial Berry, 1 ANR027
Aneurysm, Intracranial Berry, 10 ANR025
Aneurysm, Intracranial Berry, 11 ANR039
Aneurysm, Intracranial Berry, 2 ANR011
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
Angelman Syndrome ANG001
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
Angioedema, Hereditary, Type Iii ANG045
Angioedema, Hereditary, Types I and Ii ANG041
Angioid Streaks ANG004
Angioimmunoblastic Lymphadenopathy with Dysproteinemia ANG025
Angioimmunoblastic T-Cell Lymphoma ANG046
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
Angiosarcoma ANG020
Angiosarcoma of the Scalp ANG034
Angiostrongyliasis ANG002
Angular Cheilitis ANG061
Anhaptoglobinemia ANH003
Anhidrosis ANH002
Anhidrosis, Isolated, with Normal Sweat Glands ANH004
Animal Phobia ANM002
Aniridia ANR002
Anisakiasis ANS003
Aniseikonia ANS002
Anismus ANS018
Anisomastia ANS015
Anisometropia ANS004
Ank1-Related Spherocytosis ANK011
Ankrd1-Related Dilated Cardiomyopathy ANK006
Ankylosis ANK001
Ano5-Related Muscle Diseases AN5001
Anodontia AND001
Anogenital Venereal Wart ANG005
Anomalous Left Coronary Artery from the Pulmonary Artery ANM031
Anonychia Congenita ANN001
Anophthalmia/microphthalmia ANP022
Anorchia ANR018
Anorexia Nervosa ANR007
Anorexia Nervosa 1 ANR038
Anos1-Related Isolated Gonadotropin-Releasing Hormone Deficiency ANS020
Anosmia, Isolated Congenital ANS017
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 Mesenchymal Dysgenesis ANT026
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
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
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis ANT057
Anuria ANR004
Anus Adenocarcinoma ANS010
Anus Basaloid Carcinoma ANS001
Anus Cancer ANS011
Anus Disease ANS012
Anxiety Disorder ANX002
Aortic Aneurysm ART016
Aortic Aneurysm, Familial Abdominal, 4 ART108
Aortic Aneurysm, Familial Thoracic 1 ART067
Aortic Aneurysm, Familial Thoracic 2 ART068
Aortic Aneurysm, Familial Thoracic 4 ART028
Aortic Aneurysm, Familial Thoracic 6 ART071
Aortic Aneurysm, Familial Thoracic 7 ART105
Aortic Aneurysm, Familial Thoracic 8 ART107
Aortic Aneurysm, Familial Thoracic 9 ART118
Aortic Atherosclerosis ART004
Aortic Coarctation ART031
Aortic Disease ART017
Aortic Valve Disease 1 ART115
Aortic Valve Disease 2 ART101
Aortic Valve Insufficiency ART018
Aortic Valve Prolapse ART015
Aortitis ART012
Apc-Associated Polyposis Conditions APC006
Apert Syndrome APR006
Aphakia, Congenital Primary APH010
Aphasia APH002
Aphthous Stomatitis APH001
Apical Myocardial Infarction APC001
Aplasia Cutis Congenita APL006
Aplasia Cutis Congenita, Nonsyndromic APL023
Aplasia of Lacrimal and Salivary Glands APL002
Aplastic Anemia APL001
Aplastic Anemia, Ifng-Related APL021
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
Apparent Mineralocorticoid Excess APP015
Appendiceal Neoplasm APP003
Appendicitis APP008
Appendix Adenocarcinoma APP009
Appendix Cancer APP010
Appendix Carcinoid Tumor APP013
Apperceptive Agnosia APP006
Apple Allergy APP016
Apraxia APR001
Aprosencephaly Syndrome APR009
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
Argininosuccinic Aciduria ARG002
Arhgef9-Related Hyperekplexia ARH002
Ariboflavinosis ARB001
Arid1a-Related Coffin-Siris Syndrome ARD002
Arid1b-Related Coffin-Siris Syndrome ARD003
Arl13b-Related Joubert Syndrome ARL002
Arl2bp-Related Retinitis Pigmentosa ARL007
Arl6-Related Bardet-Biedl Syndrome ARL003
Arl6-Related Retinitis Pigmentosa ARL005
Armfield X-Linked Mental Retardation Syndrome ARM006
Aromatase Deficiency ARM001
Aromatase Excess Syndrome ARM004
Aromatic L-Amino Acid Decarboxylase Deficiency ARM002
Arrhythmogenic Right Ventricular Cardiomyopathy ARR042
Arrhythmogenic Right Ventricular Dysplasia 1 ARR026
Arrhythmogenic Right Ventricular Dysplasia 10 ARR040
Arrhythmogenic Right Ventricular Dysplasia 11 ARR038
Arrhythmogenic Right Ventricular Dysplasia 12 ARR037
Arrhythmogenic Right Ventricular Dysplasia 2 ARR030
Arrhythmogenic Right Ventricular Dysplasia 5 ARR025
Arrhythmogenic Right Ventricular Dysplasia 8 ARR029
Arrhythmogenic Right Ventricular Dysplasia 9 ARR035
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 ARR041
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 1 ARR004
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 2 ARR005
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 5 ARR008
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 8 ARR011
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 9 ARR012
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
Artemis Deficiency ART009
Arterial Calcification of Infancy ART035
Arterial Calcification, Generalized, of Infancy, 1 ART106
Arterial Calcification, Generalized, of Infancy, 2 ART102
Arterial Tortuosity Syndrome ART001
Arteriolosclerosis ART010
Arteriosclerosis ART021
Arteriosclerosis Obliterans ART008
Arteriovenous Fistula ART084
Arteriovenous Malformation ART005
Arteritic Anterior Ischemic Optic Neuropathy ART110
Artery Disease ART111
Arthritis ART022
Arthrogryposis Multiplex Congenita, Distal, Type 1 ART121
Arthrogryposis, Distal, Type 1b ART060
Arthrogryposis, Distal, Type 2a ART061
Arthrogryposis, Distal, Type 2b ART117
Arthrogryposis, Distal, Type 3 ART120
Arthrogryposis, Distal, Type 4 ART131
Arthrogryposis, Distal, Type 5 ART119
Arthrogryposis, Distal, Type 5d ART104
Arthrogryposis, Distal, Type 8 ART122
Arthrogryposis, Lethal, with Anterior Horn Cell Disease ART069
Arthrogryposis, Mental Retardation, and Seizures ART103
Arthrogryposis, Renal Dysfunction, and Cholestasis 1 ART062
Arthrogryposis, Renal Dysfunction, and Cholestasis 2 ART063
Arthropathy ART023
Arthropathy, Progressive Pseudorheumatoid, of Childhood ART116
Arthus Reaction ART006
Articulation Disorder ART014
Arts Syndrome ART002
Arx-Related Disorders ARX001
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
Aspartate Aminotransferase, Serum Level of, Qtl1 ASP025
Aspartylglucosaminuria ASP002
Asperger Syndrome ASP001
Asperger Syndrome Susceptibility, X-Linked 1 ASP018
Asperger Syndrome Susceptibility, X-Linked 2 ASP019
Aspergillosis ASP006
Asphyxia Neonatorum ASP004
Asphyxiating Thoracic Dystrophy ASP005
Aspiration Pneumonia ASP007
Aspiration Pneumonitis ASP008
Asplenia, Isolated Congenital ASP026
Associative Agnosia ASS001
Astereognosia AST004
Asthenopia AST003
Asthma AST005
Asthma 1 AST037
Asthma 2 AST039
Asthma Susceptibility 5 AST022
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
Asthma-Related Traits 8 AST036
Asthma, Aspirin-Induced AST038
Asthma, Phf11-Related AST050
Astigmatism AST006
Astroblastoma AST002
Astrocytoma AST007
Asymmetric Motor Neuropathy ASY004
Asymptomatic Dengue ASY001
Asymptomatic Neurosyphilis ASY002
Ataxia ATX004
Ataxia Neuropathy Spectrum ATX010
Ataxia with Isolated Vitamin E Deficiency ATX003
Ataxia with Vitamin E Deficiency ATX019
Ataxia-Oculomotor Apraxia 3 ATX024
Ataxia-Oculomotor Apraxia 4 ATX033
Ataxia-Telangiectasia ATX030
Ataxia-Telangiectasia-Like Disorder ATX006
Ataxia, Cerebellar, Cayman Type ATX018
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus ATX031
Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia ATX029
Ataxia, Posterior Column, with Retinitis Pigmentosa ATX032
Ataxia, Sensory, 1, Autosomal Dominant ATX023
Ataxia, Spastic, 4 ATX016
Ataxia, Spastic, 5, Autosomal Recessive ATX025
Atelosteogenesis ATL001
Atelosteogenesis Ii ATL002
Atelosteogenesis, Type I ATL011
Atelosteogenesis, Type Iii ATL012
Athabaskan Brainstem Dysgenesis Syndrome ATH001
Atherosclerosis ATH003
Athetosis ATH004
Athyreosis ATH010
Atlantoaxial Subluxation ATL010
Atopic Dermatitis ATP001
Atopic Keratoconjunctivitis ATP013
Atopy ATP002
Atp1a2-Related Alternating Hemiplegia of Childhood ATP011
Atp1a3-Related Alternating Hemiplegia of Childhood ATP012
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
Atrial Fibrillation ATR011
Atrial Fibrillation 15 ATR075
Atrial Fibrillation, Familial, 1 ATR026
Atrial Fibrillation, Familial, 10 ATR061
Atrial Fibrillation, Familial, 11 ATR059
Atrial Fibrillation, Familial, 12 ATR069
Atrial Fibrillation, Familial, 13 ATR072
Atrial Fibrillation, Familial, 14 ATR068
Atrial Fibrillation, Familial, 2 ATR025
Atrial Fibrillation, Familial, 3 ATR038
Atrial Fibrillation, Familial, 4 ATR039
Atrial Fibrillation, Familial, 5 ATR027
Atrial Fibrillation, Familial, 6 ATR035
Atrial Fibrillation, Familial, 7 ATR037
Atrial Fibrillation, Familial, 8 ATR028
Atrial Fibrillation, Familial, 9 ATR070
Atrial Heart Septal Defect ATR010
Atrial Septal Defect 1 ATR062
Atrial Septal Defect 2 ATR066
Atrial Septal Defect 3 ATR022
Atrial Septal Defect 4 ATR031
Atrial Septal Defect 5 ATR023
Atrial Septal Defect 6 ATR034
Atrial Septal Defect 7, with or Without Av Conduction Defects ATR063
Atrial Septal Defect 8 ATR065
Atrial Septal Defect 9 ATR056
Atrial Septal Defect Ostium Primum ATR018
Atrial Septal Defect Sinus Venosus ATR019
Atrial Standstill ATR081
Atrial Standstill 2 ATR074
Atrial Standstill, Digenic ATR060
Atrichia with Papular Lesions ATR013
Atrioventricular Block ATR057
Atrioventricular Septal Defect ATR001
Atrioventricular Septal Defect 2 ATR047
Atrioventricular Septal Defect 3 ATR064
Atrioventricular Septal Defect 4 ATR067
Atrioventricular Septal Defect 5 ATR071
Atrophic Gastritis ATR005
Atrophic Glossitis ATR073
Atrophic Lichen Planus ATR052
Atrophic Rhinitis ATR003
Atrophoderma Vermiculata ATR054
Atrophy of Prostate ATR008
Atrophy of Testis ATR009
Attention Deficit-Hyperactivity Disorder ATT013
Attenuated Ch├ędiak-Higashi Syndrome ATT012
Attenuated Familial Adenomatous Polyposis ATT003
Atxn2-Related Parkinson Disease Susceptibility ATX034
Atypical Autism ATY003
Atypical Choroid Plexus Papilloma ATY002
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 Mole Syndrome ATY019
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
Audiogenic Seizures ADG002
Auditory Agnosia ADT001
Auditory Neuropathy ADT004
Auditory Neuropathy, Autosomal Dominant, 1 ADT007
Auditory System Cancer ADT002
Auditory System Disease ADT003
Aural Atresia, Congenital ARL004
Auriculo-Condylar Syndrome ARC008
Auriculocondylar Syndrome 1 ARC016
Auriculocondylar Syndrome 2 ARC011
Auriculocondylar Syndrome 3 ARC017
Autism 18 ATS173
Autism 19 ATS170
Autism 9 ATS171
Autism Spectrum Disorder ATS007
Autism Susceptibility 15 ATS051
Autism Susceptibility 16 ATS050
Autism Susceptibility 17 ATS046
Autism Susceptibility, X-Linked 1 ATS048
Autism Susceptibility, X-Linked 2 ATS049
Autism Susceptibility, X-Linked 3 ATS044
Autism Susceptibility, X-Linked 4 ATS043
Autism X-Linked 4 ATS268
Autism X-Linked 5 ATS177
Autistic Disorder ATS001
Autoimmune Addison Disease ATM078
Autoimmune Atrophic Gastritis ATM060
Autoimmune Autonomic Ganglionopathy ATM074
Autoimmune Disease 1 ATM052
Autoimmune Disease 2 ATM053
Autoimmune Disease 3 ATM054
Autoimmune Disease 4 ATM055
Autoimmune Disease 6 ATM059
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
Autoimmune Disease, Multisystem, with Facial Dysmorphism ATM081
Autoimmune Encephalitis ATM075
Autoimmune Enteropathy ATM020
Autoimmune Hemolytic Anemia ATM010
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome ATM091
Autoimmune Hepatitis ATM011
Autoimmune Hypoparathyroidism ATM068
Autoimmune Interstitial Lung, Joint, and Kidney Disease ATM086
Autoimmune Lymphoproliferative Syndrome ATM006
Autoimmune Lymphoproliferative Syndrome, Type Ii ATM030
Autoimmune Lymphoproliferative Syndrome, Type Iib ATM046
Autoimmune Lymphoproliferative Syndrome, Type Iii ATM083
Autoimmune Lymphoproliferative Syndrome, Type V ATM082
Autoimmune Myocarditis ATM022
Autoimmune Neuropathy ATM089
Autoimmune Pancreatitis ATM024
Autoimmune Polyendocrine Syndrome ATM019
Autoimmune Polyendocrine Syndrome Type 1 ATM002
Autoimmune Polyendocrine Syndrome, Type Ii ATM092
Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia ATM033
Autoimmune Polyglandular Syndrome Type 3 ATM061
Autoimmune Retinopathy ATM076
Autoimmune Thyroid Disease 1 ATM056
Autoimmune Thyroid Disease 2 ATM057
Autoimmune Thyroid Disease 3 ATM050
Autoimmune Thyroid Disease 4 ATM058
Autoimmune Thyroiditis ATM003
Autoinflammation with Infantile Enterocolitis ATN011
Autoinflammation, Antibody Deficiency, and Immune Dysregulation Syndrome ATN010
Autoinflammation, Lipodystrophy, and Dermatosis Syndrome ATN007
Autoinflammatory Syndrome, Familial, Behcet-Like ATN012
Autonomic Dysfunction ATN005
Autonomic Nervous System Disease ATN002
Autonomic Nervous System Neoplasm ATN003
Autonomic Neuropathy ATN004
Autonomic Peripheral Neuropathy ATN001
Autosomal Dominant Cerebellar Ataxia ATS308
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation ATS092
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation ATS289
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Vcp Mutation ATS294
Autosomal Dominant Complex Spastic Paraplegia Type 9b ATS321
Autosomal Dominant Congenital Stationary Night Blindness ATS168
Autosomal Dominant Disease ATS008
Autosomal Dominant Epilepsy with Auditory Features ATS301
Autosomal Dominant Intermediate Charcot-Marie-Tooth ATS272
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B ATS261
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C ATS262
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D ATS263
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease with Neuropathic Pain ATS093
Autosomal Dominant Leukodystrophy with Autonomic Disease ATS309
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e ATS136
Autosomal Dominant Macrothrombocytopenia ATS208
Autosomal Dominant Medullary Cystic Kidney Disease with Hyperuricemia ATS139
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
Autosomal Dominant Non-Syndromic Intellectual Disability ATS203
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna ATS251
Autosomal Dominant Nonsyndromic Deafness ATS005
Autosomal Dominant Optic Atrophy, Classic Form ATS300
Autosomal Dominant Partial Epilepsy with Auditory Features ATS012
Autosomal Dominant Progressive External Ophthalmoplegia ATS025
Autosomal Dominant Robinow Syndrome ATS082
Autosomal Dominant Secondary Polycythemia ATS209
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
Autosomal Recessive Cerebral Atrophy ATS179
Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness ATS260
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome ATS314
Autosomal Recessive Congenital Ichthyosis ATS013
Autosomal Recessive Congenital Stationary Night Blindness ATS169
Autosomal Recessive Disease ATS010
Autosomal Recessive Hypophosphatemic Rickets ATS239
Autosomal Recessive Infantile Hypercalcemia ATS125
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease ATS274
Autosomal Recessive Juvenile Amyotrophic Lateral Sclerosis ATS028
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 Primary Microcephaly ATS275
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
Autosomal Recessive Spastic Paraplegia Type 59 ATS185
Autosomal Recessive Spastic Paraplegia Type 60 ATS184
Autosomal Recessive Spastic Paraplegia Type 62 ATS183
Autosomal Recessive Spastic Paraplegia Type 66 ATS190
Autosomal Recessive Spastic Paraplegia Type 67 ATS191
Autosomal Recessive Spastic Paraplegia Type 68 ATS186
Autosomal Recessive Spastic Paraplegia Type 69 ATS187
Autosomal Recessive Spastic Paraplegia Type 70 ATS188
Autosomal Recessive Spastic Paraplegia Type 71 ATS189
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
Avian Influenza AVN001
Avoidant Personality Disorder AVD001
Axenfeld-Rieger Syndrome, Type 1 AXN009
Axenfeld-Rieger Syndrome, Type 3 AXN010
Axial Osteomalacia AXL003
Axillary Adenitis AXL002
Axillary Lipoma AXL001
Axin2-Related Attenuated Familial Adenomatous Polyposis AXN008
Axonal Neuropathy AXN001
Ayme-Gripp Syndrome AYM001
Azathioprine or 6-Mercatopurine Toxicity or Dose Selection AZT004
Azoospermia AZS001