Disease Name Symbol Acronym
Ichthyosis Bullosa of Siemens ICH002
Ichthyosis Follicularis Atrichia Photophobia Syndrome ICH011
Ichthyosis Histrix, Curth-Macklin Type ICH046
Ichthyosis Linearis Circumflexa ICH018
Ichthyosis Prematurity Syndrome ICH020
Ichthyosis Vulgaris ICH001
Ichthyosis with Confetti ICH031
Ichthyosis, Autosomal Recessive 4b ICH041
Ichthyosis, Congenital, Autosomal Recessive 1 ICH047
Ichthyosis, Congenital, Autosomal Recessive 10 ICH039
Ichthyosis, Congenital, Autosomal Recessive 11 ICH051
Ichthyosis, Congenital, Autosomal Recessive 2 ICH049
Ichthyosis, Congenital, Autosomal Recessive 3 ICH038
Ichthyosis, Congenital, Autosomal Recessive 4a ICH040
Ichthyosis, Congenital, Autosomal Recessive 5 ICH050
Ichthyosis, Congenital, Autosomal Recessive 6 ICH042
Ichthyosis, Congenital, Autosomal Recessive 7 ICH045
Ichthyosis, Congenital, Autosomal Recessive 8 ICH044
Ichthyosis, Congenital, Autosomal Recessive 9 ICH048
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis ICH036
Ichthyosis, Follicular ICH025
Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis ICH026
Ichthyosis, Spastic Quadriplegia, and Mental Retardation ICH043
Ichthyosis, Spastic Qudraplegia and Mental Retardation ICH057
Ichthyosis, X-Linked ICH054
Icos-Related Common Variable Immune Deficiency ICS002
Ideomotor Apraxia IDM001
Idh3b-Related Retinitis Pigmentosa IDH001
Idiopathic Acute Transverse Myelitis IDP038
Idiopathic Anterior Uveitis IDP049
Idiopathic Bilateral Vestibulopathy IDP036
Idiopathic Bronchiectasis IDP074
Idiopathic Cd4-Positive T-Lymphocytopenia IDP001
Idiopathic Central Precocious Puberty IDP034
Idiopathic Corneal Edema IDP006
Idiopathic Edema IDP033
Idiopathic Eosinophilic Myositis IDP040
Idiopathic Generalized Epilepsy IDP010
Idiopathic Hypercalciuria IDP073
Idiopathic Hypersomnia IDP031
Idiopathic Inflammatory Myopathy IDP024
Idiopathic Interstitial Pneumonia IDP011
Idiopathic Juvenile Osteoporosis IDP002
Idiopathic Neutropenia IDP064
Idiopathic Recurrent Pericarditis IDP041
Idiopathic Scoliosis IDP070
Idiopathic Steroid-Sensitive Nephrotic Syndrome with Diffuse Mesangial Proliferation IDP059
Idiopathic Steroid-Sensitive Nephrotic Syndrome with Focal Segmental Hyalinosis IDP060
Idiopathic Steroid-Sensitive Nephrotic Syndrome with Minimal Change IDP058
Idiopathic Ventricular Fibrillation, Not Brugada Type IDP076
Ifap Syndrome with or Without Bresheck Syndrome IFP001
Ifih1-Related Aicardi-Goutieres Syndrome IFH001
Ifitm5-Related Osteogenesis Imperfecta IFT001
Ifnl3-Related Altered Drug Metabolism IFN001
Ift27-Related Bardet-Biedl Syndrome IFT002
Iga Glomerulonephritis IGG001
Iga Nephropathy 1 IGN003
Iga Nephropathy 2 IGN002
Iga Nephropathy 3 IGN004
Igg4-Related Disease IGG007
Igg4-Related Sclerosing Cholangitis IGG014
Igh-Related Multiple Myeloma IGH002
Ileitis ILT001
Ileocolitis ILC002
Ileum Cancer ILM001
Image Syndrome IMG001
Iminoglycinuria, Digenic IMN002
Immature Cataract IMM002
Immature Teratoma of Ovary IMM005
Immune Defect Due to Absence of Thymus IMM015
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome IMM027
Immune Hydrops Fetalis IMM039
Immune System Cancer IMM127
Immune System Organ Benign Neoplasm IMM006
Immune-Complex Glomerulonephritis IMM001
Immunodeficiency 10 IMM065
Immunodeficiency 11 IMM062
Immunodeficiency 12 IMM071
Immunodeficiency 13 IMM070
Immunodeficiency 14 IMM102
Immunodeficiency 15 IMM063
Immunodeficiency 16 IMM074
Immunodeficiency 17, Cd3 Gamma Deficient IMM084
Immunodeficiency 18 IMM082
Immunodeficiency 19 IMM081
Immunodeficiency 20 IMM077
Immunodeficiency 21 IMM078
Immunodeficiency 22 IMM075
Immunodeficiency 23 IMM080
Immunodeficiency 24 IMM076
Immunodeficiency 25 IMM085
Immunodeficiency 26, with or Without Neurologic Abnormalities IMM121
Immunodeficiency 27a, Mycobacteriosis, Ar IMM090
Immunodeficiency 27b, Mycobacteriosis, Ad IMM091
Immunodeficiency 28, Mycobacteriosis IMM097
Immunodeficiency 29, Mycobacteriosis IMM089
Immunodeficiency 30 IMM096
Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant IMM086
Immunodeficiency 31b, Mycobacterial and Viral Infections, Autosomal Recessive IMM087
Immunodeficiency 31c, Autosomal Dominant IMM107
Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant IMM093
Immunodeficiency 32b, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive IMM094
Immunodeficiency 33 IMM099
Immunodeficiency 34, Mycobacteriosis, X-Linked IMM098
Immunodeficiency 35 IMM095
Immunodeficiency 36 IMM088
Immunodeficiency 37 IMM103
Immunodeficiency 38 IMM101
Immunodeficiency 39 IMM123
Immunodeficiency 40 IMM120
Immunodeficiency 41 with Lymphoproliferation and Autoimmunity IMM122
Immunodeficiency 42 IMM118
Immunodeficiency 46 IMM135
Immunodeficiency 7, Tcr-Alpha/beta Deficient IMM067
Immunodeficiency 8 IMM068
Immunodeficiency 9 IMM066
Immunodeficiency Due to a Classical Component Pathway Complement Deficiency IMM132
Immunodeficiency Due to a Late Component of Complement Deficiency IMM128
Immunodeficiency Due to Defect in Cd3-Gamma IMM008
Immunodeficiency Due to Defect in Mapbp-Interacting Protein IMM029
Immunodeficiency Due to Ficolin 3 Deficiency IMM057
Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency IMM033
Immunodeficiency with Hyper Igm, Type 5 IMM109
Immunodeficiency with Hyper-Igm, Type 2 IMM104
Immunodeficiency with Hyper-Igm, Type 3 IMM105
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 IMM072
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 IMM133
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 IMM061
Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome IMM013
Immunodeficiency, Common Variable, 1 IMM038
Immunodeficiency, Common Variable, 10 IMM064
Immunodeficiency, Common Variable, 11 IMM079
Immunodeficiency, Common Variable, 12 IMM119
Immunodeficiency, Common Variable, 13 IMM134
Immunodeficiency, Common Variable, 2 IMM034
Immunodeficiency, Common Variable, 3 IMM030
Immunodeficiency, Common Variable, 4 IMM035
Immunodeficiency, Common Variable, 5 IMM032
Immunodeficiency, Common Variable, 6 IMM037
Immunodeficiency, Common Variable, 7 IMM058
Immunodeficiency, Common Variable, 8, with Autoimmunity IMM055
Immunodeficiency, Isolated IMM036
Immunodeficiency, Primary, Autosomal Recessive, Il21r-Related IMM069
Immunodeficiency, X-Linked, with Hyper-Igm IMM111
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia IMM110
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked IMM106
Immunoglobulin a Deficiency 2 IMM025
Immunoglobulin Alpha Deficiency IMM003
Immunotactoid Glomerulopathy IMM053
Impaired Renal Function Disease IMP003
Impdh1-Related Leber Congenital Amaurosis IMP009
Impdh1-Related Retinitis Pigmentosa IMP010
Imperforate Anus IMP002
Impetigo IMP004
Impetigo Herpetiformis IMP001
Impg2-Related Retinitis Pigmentosa IMP011
Impotence IMP005
Impulse Control Disorder IMP006
in Situ Carcinoma INS002
in Situ Pulmonary Adenocarcinoma INS022
Inappropriate Adh Syndrome INP001
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia INC004
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 INC016
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 INC015
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia INC018
Inclusion Body Myopathy Wtih Early-Onset Paget Disease Without Frontotemporal Dementia 3 INC017
Inclusion Body Myopathy, Autosomal Recessive INC009
Inclusion Body Myositis INC002
Inclusion Conjunctivitis INC003
Inclusion-Cell Disease INC022
Incontinentia Pigmenti INC021
Indeterminate Cell Histiocytosis IND009
Indeterminate Leprosy IND004
Indian Tick Typhus IND001
Indolent Myeloma IND003
Indolent Systemic Mastocytosis IND002
Infancy Electroclinical Syndrome INF033
Infant Botulism INF006
Infantile Apnea INF043
Infantile Cerebellar-Retinal Degeneration INF129
Infantile Digital Fibromatosis INF046
Infantile Epileptic Encephalopathy INF016
Infantile Free Sialic Acid Storage Disease INF047
Infantile Glycine Encephalopathy INF126
Infantile Histiocytoid Cardiomyopathy INF048
Infantile Hypotonia INF065
Infantile Krabbe Disease INF122
Infantile Liver Failure Syndrome 1 INF145
Infantile Liver Failure Syndrome 2 INF138
Infantile Myofibromatosis INF049
Infantile Myopathy and Lactic Acidosis INF061
Infantile Neuroaxonal Dystrophy 1 INF069
Infantile Osteopetrosis with Neuroaxonal Dysplasia INF132
Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome INF150
Infantile-Onset Ascending Hereditary Spastic Paralysis INF041
Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression INF141
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease INF148
Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovasuclar Malformations INF137
Infectious Myocarditis INF055
Infective Endocarditis INF034
Inferior Myocardial Infarction INF013
Inferior Vena Cava Interruption INF133
Infertility INF032
Infiltrating Angiolipoma INF011
Infiltrating Lipoma INF005
Infiltrative Basal Cell Carcinoma INF027
Inflamed Seborrheic Keratosis INF022
Inflammatory and Toxic Neuropathy INF036
Inflammatory Bowel Disease 1 INF071
Inflammatory Bowel Disease 10 INF067
Inflammatory Bowel Disease 11 INF072
Inflammatory Bowel Disease 12 INF073
Inflammatory Bowel Disease 13 INF068
Inflammatory Bowel Disease 14 INF093
Inflammatory Bowel Disease 15 INF074
Inflammatory Bowel Disease 16 INF075
Inflammatory Bowel Disease 17, Protection Against INF096
Inflammatory Bowel Disease 18 INF076
Inflammatory Bowel Disease 19 INF077
Inflammatory Bowel Disease 2 INF078
Inflammatory Bowel Disease 20 INF079
Inflammatory Bowel Disease 21 INF080
Inflammatory Bowel Disease 22 INF081
Inflammatory Bowel Disease 23 INF082
Inflammatory Bowel Disease 24 INF083
Inflammatory Bowel Disease 25, Early Onset, Autosomal Recessive INF095
Inflammatory Bowel Disease 26 INF084
Inflammatory Bowel Disease 27 INF085
Inflammatory Bowel Disease 28, Early Onset, Autosomal Recessive INF094
Inflammatory Bowel Disease 3 INF086
Inflammatory Bowel Disease 4 INF087
Inflammatory Bowel Disease 5 INF088
Inflammatory Bowel Disease 6 INF089
Inflammatory Bowel Disease 7 INF090
Inflammatory Bowel Disease 8 INF091
Inflammatory Bowel Disease 9 INF092
Inflammatory Breast Carcinoma INF023
Inflammatory Diarrhea INF002
Inflammatory Leiomyosarcoma INF031
Inflammatory Linear Verrucous Epidermal Nevus INF057
Inflammatory Liposarcoma INF018
Inflammatory Mfh INF026
Inflammatory Myofibroblastic Tumor INF058
Inflammatory Myopathy with Abundant Macrophages INF118
Inflammatory Skin and Bowel Disease, Neonatal, 1 INF144
Inflammatory Skin and Bowel Disease, Neonatal, 2 INF146
Influenza INF038
Influenza, Severe INF136
Infratentorial Cancer INF039
Infundibulo-Neurohypophysitis INF124
Infundibulocystic Basal Cell Carcinoma INF028
Inguinal Hernia ING001
Inhalation Anthrax INH001
Inherited Acute Myeloid Leukemia INH015
Inherited Blood Coagulation Disease INH004
Inherited Bone Marrow Failure Syndromes INH011
Inherited Congenital Spastic Tetraplegia INH017
Inherited Isolated Adrenal Insufficiency Due to Cyp11a1 Deficiency INH016
Inherited Metabolic Disorder INH020
Inhibited Female Orgasm INH003
Inhibited Male Orgasm INH002
Inner Ear Cancer INN001
Inner Ear Disease INN002
Inosine Triphosphate Pyrophosphohydrolase Deficiency INS021
Inpp5e-Related Joubert Syndrome INP002
Ins-Related Permanent Neonatal Diabetes Mellitus INS012
Insensitivity to Pain, Congenital, with Anhidrosis INS023
Insomnia, Fatal Familial INS025
Insr-Related Hyperinsulinism INS026
Insulin Autoimmune Syndrome INS006
Insulin-Like Growth Factor I INS024
Insulinoma INS001
Integumentary System Benign Neoplasm INT282
Integumentary System Cancer INT283
Intellectual Disability INT063
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome INT300
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome INT228
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome INT298
Interdigitating Dendritic Cell Sarcoma INT038
Interferon Gamma, Receptor 1, Deficiency INT093
Interleukin 1 Receptor Antagonist Deficiency INT259
Interleukin 2 Receptor Alpha Chain Deficiency INT106
Interleukin-7 Receptor Alpha Deficiency INT029
Intermediate Charcot-Marie-Tooth Neuropathy INT144
Intermediate Congenital Nemaline Myopathy INT274
Intermediate Coronary Syndrome INT007
Intermediate Dend Syndrome INT222
Intermediate Maple Syrup Urine Disease INT262
Intermediate Severe Salla Disease INT094
Intermediate Uveitis INT064
Intermittent Claudication INT002
Intermittent Explosive Disorder INT025
Intermittent Hydrarthrosis INT182
Internal Hemorrhoid INT059
Internal Hordeolum INT047
Internuclear Ophthalmoplegia INT042
Interstitial Cystitis INT143
Interstitial Emphysema INT011
Interstitial Keratitis INT065
Interstitial Lung and Liver Disease INT271
Interstitial Lung Disease INT066
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital INT224
Interstitial Myocarditis INT062
Interstitial Nephritis INT067
Interstitial Nephritis, Karyomegalic INT258
Interstitial Pneumonitis, Desquamative, Familial INT304
Interval Angle-Closure Glaucoma INT012
Intervertebral Disc Disease INT146
Intestinal Atresia INT060
Intestinal Benign Neoplasm INT253
Intestinal Botulism INT006
Intestinal Disease INT068
Intestinal Impaction INT050
Intestinal Obstruction INT070
Intestinal Perforation INT071
Intestinal Pseudo-Obstruction INT072
Intestinal Pseudoobstruction, Neuronal INT111
Intestinal Schistosomiasis INT017
Intestinal Tuberculosis INT046
Intestinal Volvulus INT052
Intracranial Abscess INT009
Intracranial Aneurysm INT030
Intracranial Arteriosclerosis INT074
Intracranial Berry Aneurysm INT260
Intracranial Chondrosarcoma INT033
Intracranial Cysts INT110
Intracranial Embolism INT010
Intracranial Hemorrhage in Brain Cerebrovascular Malformations INT145
Intracranial Hypertension INT075
Intracranial Hypertension, Idiopathic INT303
Intracranial Hypotension INT003
Intracranial Primitive Neuroectodermal Tumor INT022
Intracranial Sinus Thrombosis INT076
Intracranial Structure Hemangioma INT077
Intracranial Vasospasm INT053
Intracystic Papillary Adenoma INT015
Intraductal Papilloma INT016
Intrahepatic Bile Duct Adenoma INT049
Intrahepatic Biliary Papillomatosis INT039
Intrahepatic Cholangiocarcinoma INT079
Intrahepatic Cholestasis INT001
Intramuscular Hemangioma INT013
Intraneural Perineurioma INT004
Intranuclear Rod Myopathy INT109
Intraocular Lymphoma INT054
Intraocular Retinoblastoma INT082
Intratubular Embryonal Carcinoma INT041
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome INT279
Intravascular Fasciitis INT055
Intravascular Large B-Cell Lymphoma INT221
Intravascular Papillary Endothelial Hyperplasia INT104
Intravenous Leiomyomatosis INT020
Intraventricular Meningioma INT083
Intrinsic Asthma INT040
Intrinsic Cardiomyopathy INT084
Intrinsic Factor Deficiency INT088
Intussusception INT051
Invasive Aspergillosis INV001
Invasive Bladder Transitional Cell Carcinoma INV004
Invasive Malignant Thymoma INV003
Invasive Pneumococcal Disease, Recurrent Isolated, 1 INV008
Invasive Pneumococcal Disease, Recurrent Isolated, 2 INV007
Inverted Follicular Keratosis INV005
Inverted Papilloma INV006
Ipex Syndrome IPX001
Iqcb1-Related Leber Congenital Amaurosis IQC001
Irak4 Deficiency IRK001
Irf6-Related Disorders IRF001
Iridocorneal Endothelial Syndrome IRD003
Iridocyclitis IRD001
Iridogoniodysgenesis, Type 1 IRD007
Iridogoniodysgenesis, Type 2 IRD008
Irinotecan Toxicity IRN007
Iris Disease IRS003
Iris Hypoplasia IRS007
Iritis IRT001
Iron Deficiency Anemia IRN001
Iron Metabolism Disease IRN002
Iron Overload in Africa IRN008
Iron-Refractory Iron Deficiency Anemia IRN004
Irregular Astigmatism IRR001
Irritable Bowel Syndrome IRR002
Irritant Dermatitis IRR003
Ischemia ISC004
Ischemic Bone Disease ISC005
Ischemic Colitis ISC015
Ischemic Fasciitis ISC003
Ischemic Heart Disease ISC006
Ischemic Neuropathy ISC001
Ischemic Optic Neuropathy ISC002
Ischemic Retinopathy ISC009
Ischio-Vertebral Syndrome ISC011
Islet Cell Tumor ISL001
Isobutyryl-Coa Dehydrogenase Deficiency ISB001
Isolated 17-Linked Lissencephaly ISL010
Isolated Aniridia ISL011
Isolated Atp Synthase Deficiency ISL082
Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type ISL027
Isolated Bone Marrow Mastocytosis ISL032
Isolated Brachycephaly ISL061
Isolated Congenital Breast Hypoplasia/aplasia ISL100
Isolated Congenital Megalocornea ISL067
Isolated Congenitally Uncorrected Transposition of the Great Arteries ISL054
Isolated Dandy-Walker Malformation with Hydrocephalus ISL050
Isolated Dandy-Walker Malformation Without Hydrocephalus ISL049
Isolated Delta-Storage Pool Disease ISL033
Isolated Ectopia Lentis ISL078
Isolated Gonadotropin-Releasing Hormone Deficiency ISL004
Isolated Growth Hormone Deficiency ISL003
Isolated Growth Hormone Deficiency, Ghrh-Related ISL092
Isolated Growth Hormone Deficiency, Type Ib, Gh1-Related ISL074
Isolated Growth Hormone Deficiency, Type Ib, Ghrhr-Related ISL073
Isolated Hyperckemia ISL077
Isolated Klippel-Feil Syndrome ISL096
Isolated Megalencephaly ISL034
Isolated Methylmalonic Acidemia ISL099
Isolated Micropenis ISL069
Isolated Microphthalmia ISL020
Isolated Nonsyndromic Congenital Heart Disease/defects ISL016
Isolated Oxycephaly ISL087
Isolated Plagiocephaly ISL062
Isolated Scaphocephaly ISL089
Isolated Sedoheptulokinase Deficiency ISL104
Isolated Trigonocephaly ISL084
Isolated X-Linked Adrenal Hypoplasia Congenita ISL018
Isoniazid Toxicity ISN001
Isovaleric Acidemia ISV001
Ispd-Related Muscle Diseases ISP001
Israeli Tick Typhus ISR001
Itch E3 Ubiquitin Ligase Deficiency ITC001
Itga6-Related Epidermolysis Bullosa with Pyloric Atresia ITG001
Itgb4-Related Epidermolysis Bullosa with Pyloric Atresia ITG002
Itpa-Related Altered Drug Metabolism ITP001
Itpa-Related Encephalopathy ITP002
Ivic Syndrome IVC001