Disease Name Symbol Acronym
Iatrogenic Botulism ITR001
Iatrogenic or Traumatic Pituitary Deficiency ITR002
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness ICH075
Ichthyosis ICH004
Ichthyosis Alopecia Eclabion Ectropion Mental Retardation ICH006
Ichthyosis and Male Hypogonadism ICH007
Ichthyosis Bullosa of Siemens ICH002
Ichthyosis Congenita with Biliary Atresia ICH076
Ichthyosis Follicularis Atrichia Photophobia Syndrome ICH011
Ichthyosis Hystrix Gravior ICH012
Ichthyosis Hystrix, Curth-Macklin Type ICH073
Ichthyosis Lamellar 1 ICH014
Ichthyosis Lamellar 2 ICH015
Ichthyosis Lamellar 3 ICH016
Ichthyosis Linearis Circumflexa ICH018
Ichthyosis Prematurity Syndrome ICH020
Ichthyosis Tapered Fingers Midline Groove Up ICH021
Ichthyosis Vulgaris ICH001
Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation ICH065
Ichthyosis--Cheek--Eyebrow Syndrome ICH066
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin ICH027
Ichthyosis, Acquired ICH023
Ichthyosis, Congenital, Autosomal Recessive 1 ICH047
Ichthyosis, Congenital, Autosomal Recessive 10 ICH039
Ichthyosis, Congenital, Autosomal Recessive 11 ICH051
Ichthyosis, Congenital, Autosomal Recessive 12 ICH071
Ichthyosis, Congenital, Autosomal Recessive 13 ICH070
Ichthyosis, Congenital, Autosomal Recessive 14 ICH072
Ichthyosis, Congenital, Autosomal Recessive 2 ICH049
Ichthyosis, Congenital, Autosomal Recessive 3 ICH038
Ichthyosis, Congenital, Autosomal Recessive 4a ICH040
Ichthyosis, Congenital, Autosomal Recessive 4b ICH069
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, Erythrokeratolysis Hemalis ICH024
Ichthyosis, Follicular ICH025
Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration ICH067
Ichthyosis, Hystrix-Like, with Deafness ICH035
Ichthyosis, Lamellar, Autosomal Dominant ICH074
Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis ICH026
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment ICH068
Ichthyosis, Spastic Quadriplegia, and Mental Retardation ICH043
Ichthyosis, Split Hairs, and Amino Aciduria ICH077
Ichthyosis, X-Linked ICH054
Ichthyosis, X-Linked, Without Steroid Sulfatase Deficiency ICH078
Ideomotor Apraxia IDM001
Idiopathic Achalasia IDP035
Idiopathic Acute Eosinophilic Pneumonia IDP012
Idiopathic Acute Transverse Myelitis IDP038
Idiopathic Alveolar Hypoventilation Syndrome IDP014
Idiopathic and/or Familial Pulmonary Arterial Hypertension IDP075
Idiopathic Anterior Uveitis IDP049
Idiopathic Avascular Necrosis IDP069
Idiopathic Bilateral Vestibulopathy IDP036
Idiopathic Bronchiectasis IDP074
Idiopathic Cd4-Positive T-Lymphocytopenia IDP001
Idiopathic Central Precocious Puberty IDP034
Idiopathic Congenital Hypothyroidism IDP061
Idiopathic Copper-Associated Cirrhosis IDP071
Idiopathic Corneal Edema IDP006
Idiopathic Dilatation of the Pulmonary Artery IDP017
Idiopathic Disseminated Cytomegalovirus Infection IDP080
Idiopathic Double Athetosis IDP018
Idiopathic Dropped Head Syndrome IDP079
Idiopathic Ductopenia IDP084
Idiopathic Edema IDP033
Idiopathic Eosinophilic Myositis IDP040
Idiopathic Hemiconvulsion-Hemiplegia Syndrome IDP067
Idiopathic Hypercalciuria IDP073
Idiopathic Hypersomnia IDP031
Idiopathic Hypersomnia with Long Sleep Time IDP046
Idiopathic Hypersomnia Without Long Sleep Time IDP045
Idiopathic Hypertrophic Pachymeningitis IDP081
Idiopathic Infantile Hypercalcemia IDP085
Idiopathic Inflammatory Myopathy IDP024
Idiopathic Interstitial Pneumonia IDP011
Idiopathic Linear Interstitial Keratitis IDP050
Idiopathic Macular Telangiectasia Type 1 IDP065
Idiopathic Macular Telangiectasia Type 3 IDP066
Idiopathic Malabsorption Due to Bile Acid Synthesis Defects IDP068
Idiopathic Neonatal Atrial Flutter IDP056
Idiopathic Neutropenia IDP064
Idiopathic Panuveitis IDP047
Idiopathic Peliosis Hepatis IDP083
Idiopathic Peripheral Autonomic Neuropathy IDP004
Idiopathic Phalangeal Acro-Osteolysis IDP078
Idiopathic Posterior Uveitis IDP048
Idiopathic Progressive Polyneuropathy IDP007
Idiopathic Recurrent and Disabling Cutaneous Herpes IDP052
Idiopathic Recurrent Pericarditis IDP041
Idiopathic Recurrent Stupor IDP042
Idiopathic Scoliosis IDP070
Idiopathic Severe Pneumococcemia IDP055
Idiopathic Spinal Cord Herniation IDP022
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 Subglottic Tracheal Stenosis IDP023
Idiopathic Syringomyelia IDP062
Idiopathic Uveal Effusion Syndrome IDP043
Idiopathic Ventricular Fibrillation, Non Brugada Type IDP082
Ifap Syndrome with or Without Bresheck Syndrome IFP001
Iga Glomerulonephritis IGG001
Iga Nephropathy 1 IGN003
Iga Nephropathy 2 IGN002
Iga Nephropathy 3 IGN004
Ige Responsiveness, Atopic IGR001
Igg4-Related Aortitis IGG010
Igg4-Related Dacryoadenitis and Sialadenitis IGG016
Igg4-Related Disease IGG007
Igg4-Related Hepatopathy IGG017
Igg4-Related Kidney Disease IGG011
Igg4-Related Mesenteritis IGG008
Igg4-Related Ophthalmic Disease IGG009
Igg4-Related Pachymeningitis IGG013
Igg4-Related Sclerosing Cholangitis IGG014
Igg4-Related Submandibular Gland Disease IGG012
Igg4-Related Thyroid Disease IGG015
Iida Kannari Syndrome IDK001
Ileal Neuroendocrine Tumor ILL008
Ileal Pouch Anal Anastomosis Related Faecal Incontinence ILL006
Ileitis ILT001
Ileocolitis ILC002
Ileum Cancer ILM001
Iliac Vein Thrombophlebitis ILC001
Illum Syndrome ILL003
Illustrated Glossary ILL002
Imaizumi Kuroki Syndrome IMZ001
Iminoglycinuria IMN001
Immature Cataract IMM002
Immature Teratoma of Ovary IMM005
Immune Defect Due to Absence of Thymus IMM015
Immune Deficiency Disease IMM167
Immune Deficiency, Familial Variable IMM016
Immune Hydrops Fetalis IMM039
Immune Response to Synthetic Polypeptide--Irhgal IMM159
Immune Response to Synthetic Polypeptide--Irphegal IMM155
Immune Response to Synthetic Polypeptide--Irtgal IMM160
Immune System Disease IMM136
Immune System Organ Benign Neoplasm IMM006
Immune-Complex Glomerulonephritis IMM001
Immune-Mediated Encephalomyelitis IMM028
Immunodeficiency 10 IMM065
Immunodeficiency 11 IMM062
Immunodeficiency 11b with Atopic Dermatitis IMM145
Immunodeficiency 12 IMM071
Immunodeficiency 13 IMM070
Immunodeficiency 14 IMM102
Immunodeficiency 15 IMM063
Immunodeficiency 16 IMM074
Immunodeficiency 17 IMM184
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 IMM185
Immunodeficiency 27a IMM166
Immunodeficiency 27b IMM186
Immunodeficiency 28 IMM180
Immunodeficiency 29 IMM181
Immunodeficiency 30 IMM096
Immunodeficiency 31a IMM182
Immunodeficiency 31b IMM178
Immunodeficiency 31c IMM179
Immunodeficiency 32a IMM183
Immunodeficiency 32b IMM138
Immunodeficiency 33 IMM099
Immunodeficiency 34 IMM172
Immunodeficiency 35 IMM095
Immunodeficiency 36 IMM088
Immunodeficiency 37 IMM103
Immunodeficiency 38 with Basal Ganglia Calcification IMM187
Immunodeficiency 39 IMM123
Immunodeficiency 40 IMM120
Immunodeficiency 41 with Lymphoproliferation and Autoimmunity IMM122
Immunodeficiency 42 IMM118
Immunodeficiency 43 IMM149
Immunodeficiency 44 IMM148
Immunodeficiency 45 IMM152
Immunodeficiency 46 IMM135
Immunodeficiency 47 IMM140
Immunodeficiency 48 IMM143
Immunodeficiency 49 IMM141
Immunodeficiency 50 IMM142
Immunodeficiency 51 IMM153
Immunodeficiency 52 IMM150
Immunodeficiency 53 IMM151
Immunodeficiency 54 IMM177
Immunodeficiency 55 IMM190
Immunodeficiency 56 IMM191
Immunodeficiency 8 IMM068
Immunodeficiency 9 IMM066
Immunodeficiency by Defective Expression of Hla Class 1 IMM117
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 Mapbp-Interacting Protein IMM029
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist IMM157
Immunodeficiency with Defective T-Cell Response to Interleukin 1 IMM171
Immunodeficiency with Hyper-Igm, Type 1 IMM174
Immunodeficiency with Hyper-Igm, Type 2 IMM104
Immunodeficiency with Hyper-Igm, Type 3 IMM105
Immunodeficiency with Hyper-Igm, Type 4 IMM131
Immunodeficiency with Hyper-Igm, Type 5 IMM176
Immunodeficiency with Thymoma IMM137
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia IMM023
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome IMM011
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 IMM072
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 IMM056
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 IMM133
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 IMM147
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, 14 IMM189
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, Developmental Delay, and Hypohomocysteinemia IMM188
Immunodeficiency, Ovarian Dysgenesis, and Pulmonary Fibrosis IMM129
Immunodeficiency, Partial Combined, with Absence of Hla Determinants and Beta-2-Microglobulin from Lymphocytes IMM168
Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein IMM173
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia IMM026
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked IMM106
Immunoerythromyeloid Hypoplasia IMM169
Immunoglobulin a Deficiency 1 IMM154
Immunoglobulin a Deficiency 2 IMM025
Immunoglobulin a Vasculitis IMM073
Immunoglobulin Alpha Deficiency IMM003
Immunoglobulin Beta Deficiency IMM004
Immunoglobulin D Level in Plasma, Low IMM170
Immunoglobulin E Concentration, Serum IMM162
Immunoglobulin G Deficiency IMM044
Immunoglobulin Kappa Light Chain Deficiency IMM100
Immunoglobulin M, Level of IMM175
Immunoglobulin Switch Sequences IMM165
Immunoneurologic Disorder, X-Linked IMM130
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities IMM146
Immunotactoid Glomerulopathy IMM053
Immunotactoid or Fibrillary Glomerulopathy IMM051
Impacted Teeth, Multiple IMP016
Impaired Renal Function Disease IMP003
Impairment of Oral Perception IMP007
Impdh2 Enzyme Activity, Variation in IMP012
Imperforate Oropharynx-Costo Vetebral Anomalies IMP008
Imperforate Oropharynx-Costovertebral Anomalies Syndrome IMP019
Impetigo IMP004
Impetigo Herpetiformis IMP001
Impotence IMP005
Imprinting Gene Related to Retinoblastoma IMP017
Impulse Control Disorder IMP006
in Situ Carcinoma INS002
in Situ Pulmonary Adenocarcinoma INS022
Inappropriate Adh Syndrome INP001
Inborn Amino Acid Metabolism Disorder INB001
Inborn Renal Aminoaciduria INB002
Incessant Infant Ventricular Tachycardia INC014
Incisors, Fused Mandibular INC023
Incisors, Long Upper Central INC025
Incisors, Lower Central, Absence of INC026
Incisors, Rotation of Upper Central INC027
Incisors, Shovel-Shaped INC028
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia INC004
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 INC029
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 INC015
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 INC031
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia INC018
Inclusion Body Myositis INC002
Inclusion Conjunctivitis INC003
Inclusion-Cell Disease INC022
Incontinentia Pigmenti INC021
Increased Analgesia from Kappa-Opioid Receptor Agonist, Female-Specific INC030
Indeterminate Cell Histiocytosis IND009
Indeterminate Leprosy IND004
Indian Plum Allergy IND010
Indian Prawn Allergy IND011
Indian Tick Typhus IND001
Indifference to Pain, Congenital, Autosomal Recessive IND012
Indolent B Cell Lymphoma IND005
Indolent Myeloma IND003
Indolent Systemic Mastocytosis IND002
Indolylacroyl Glycinuria with Mental Retardation IND013
Infancy Electroclinical Syndrome INF033
Infant Botulism INF006
Infant Epilepsy with Migrant Focal Crisis INF042
Infant Gynecomastia INF021
Infantile Apnea INF043
Infantile Axonal Neuropathy INF044
Infantile Bartter Syndrome with Sensorineural Deafness INF164
Infantile Cerebellar-Retinal Degeneration INF129
Infantile Choroidocerebral Calcification Syndrome INF139
Infantile Digital Fibromatosis INF046
Infantile Epileptic Encephalopathy INF016
Infantile Epileptic Encephalopathy 55 INF166
Infantile Epileptic Encephalopathy 56 INF165
Infantile Epileptic Encephalopathy 57 INF167
Infantile Epileptic Encephalopathy 58 INF168
Infantile Epileptic Encephalopathy 59 INF169
Infantile Free Sialic Acid Storage Disease INF047
Infantile Glycine Encephalopathy INF126
Infantile Hypotonia INF065
Infantile Krabbe Disease INF122
Infantile Liver Failure Syndrome 1 INF145
Infantile Liver Failure Syndrome 2 INF138
Infantile Mercury Poisoning INF119
Infantile Myofibromatosis INF049
Infantile Nephronophthisis INF147
Infantile Onset Panniculitis with Uveitis and Systemic Granulomatosis INF120
Infantile Osteopetrosis with Neuroaxonal Dysplasia INF132
Infantile Recurrent Chronic Multifocal Osteomyolitis INF051
Infantile Scoliosis INF052
Infantile Sialic Acid Storage Disease INF159
Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome INF150
Infantile Spasms Broad Thumbs INF053
Infantile Striato Thalamic Degeneration INF054
Infantile-Onset Ascending Hereditary Spastic Paralysis INF041
Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome INF155
Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression INF141
Infected Hydrocele INF025
Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations INF158
Infectious Anterior Uveitis INF019
Infectious Epithelial Keratitis INF115
Infectious Myocarditis INF055
Infectious Panuveitis INF151
Infectious Posterior Uveitis INF152
Infective Dermatitis Associated with Htlv-1 INF127
Infective Endocarditis INF034
Infective Myositis INF134
Infective Urethral Stricture INF004
Inferior Myocardial Infarction INF013
Inferior Vena Cava Interruption INF133
Inferolateral Myocardial Infarct INF012
Infertility INF032
Infertility Due to Extratesticular Cause INF020
Infiltrating Angiolipoma INF011
Infiltrating Bladder Lymphoepithelioma-Like Carcinoma INF024
Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant INF029
Infiltrating Lipoma INF005
Infiltrating Nipple Syringomatous Adenoma INF017
Infiltrating Renal Pelvis Transitional Cell Carcinoma INF035
Infiltrating Ureter Transitional Cell Carcinoma INF015
Infiltrative Basal Cell Carcinoma INF027
Inflamed Seborrheic Keratosis INF022
Inflammatory and Toxic Neuropathy INF036
Inflammatory Bowel Disease INF037
Inflammatory Bowel Disease 1 INF071
Inflammatory Bowel Disease 10 INF067
Inflammatory Bowel Disease 19 INF077
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 INF160
Inflammatory Bowel Disease 18 INF076
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 INF162
Inflammatory Bowel Disease 25, Autosomal Recessive INF063
Inflammatory Bowel Disease 26 INF084
Inflammatory Bowel Disease 27 INF085
Inflammatory Bowel Disease 28 INF161
Inflammatory Bowel Disease 28, Autosomal Recessive INF064
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
Inflammatory Spondylopathy INF009
Influenza INF038
Influenza, Severe INF136
Infratentorial Cancer INF039
Infundibulo-Neurohypophysitis INF124
Infundibulopelvic Dysgenesis INF059
Inguinal Hernia ING001
Inhalation Anthrax INH001
Inhalational Botulism INH013
Inherited Blood Coagulation Disease INH004
Inherited Bone Marrow Failure Syndromes INH011
Inherited Congenital Spastic Tetraplegia INH017
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency INH021
Inherited Metabolic Disorder INH020
Inherited Predisposition to Essential Thrombocythemia INH014
Inherited Thyroxine-Binding Globulin Deficiency INH007
Inhibited Female Orgasm INH003
Inhibited Male Orgasm INH002
Iniencephaly INN003
Inner Ear Cancer INN001
Inner Ear Disease INN002
Inosine Phosphorylase Deficiency, Immune Defect Due to INS031
Inosine Triphosphatase Deficiency INS015
Insect Stings, Hypersensitivity to INS030
Insensitivity to Pain with Hyperplastic Myelinopathy INS029
Insensitivity to Pain, Congenital, with Anhidrosis INS023
Insr-Related Severe Syndromic Insulin Resistance INS033
Insulin Autoimmune Syndrome INS006
Insulin Receptors, Familial Increase in INS028
Insulin-Like Growth Factor I INS024
Insulin-Resistance Type B INS009
Insulin-Resistant Acanthosis Nigricans, Type a INS010
Insulinoma INS001
Insulinoma Tumor Suppressor Gene Locus INS032
Insulinomatosis and Diabetes Mellitus INS034
Integrative Agnosia INT031
Integumentary System Cancer INT283
Intellectual Deficit - Short Stature - Hypertelorism INT089
Intellectual Deficit Buenos-Aires Type INT090
Intellectual Developmental Disorder with Cardiac Arrhythmia INT313
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis INT310
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies INT312
Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold INT314
Intellectual Developmental Disorder with Neuropsychiatric Features INT311
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin INT309
Intellectual Disability - Athetosis - Microphthalmia INT231
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag INT232
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation INT307
Intellectual Disability-Cataracts-Kyphosis Syndrome INT284
Intellectual Disability-Developmental Delay-Contractures Syndrome INT277
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome INT288
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome INT300
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome INT227
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome INT228
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome INT248
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome INT305
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome INT298
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome INT226
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome INT270
Intellectual Disability-Short Stature-Hypertelorism Syndrome INT294
Intellectual Disability-Skeletal Abnormalities-Joint Laxity-Cardiac Anomalies Syndrome INT326
Intellectual Disability-Spasticity-Ectrodactyly Syndrome INT286
Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity INT273
Intelligence Quantitative Trait Locus 1 INT320
Intelligence Quantitative Trait Locus 2 INT321
Intelligence Quantitative Trait Locus 3 INT322
Interatrial Communication INT276
Intercellular Cholesterol Esterification Disease INT092
Interdigitating Dendritic Cell Sarcoma INT038
Interferon Antiviral Depressor INT085
Interferon Gamma, Receptor 1, Deficiency INT093
Interleukin 6, Serum Level of, Quantitative Trait Locus INT325
Interleukin-7 Receptor Alpha Deficiency INT029
Intermediate Anorectal Malformation INT254
Intermediate Cell Type Ciliary Body Melanoma INT023
Intermediate Congenital Nemaline Myopathy INT274
Intermediate Coronary Syndrome INT007
Intermediate Dend Syndrome INT222
Intermediate Malignant Teratoma INT005
Intermediate Maple Syrup Urine Disease INT262
Intermediate Severe Salla Disease INT094
Intermediate Uveitis INT064
Intermittent Claudication INT002
Intermittent Explosive Disorder INT025
Intermittent Hydrarthrosis INT182
Intermittent Proptosis INT026
Intermittent Squint INT008
Intermixed Schwannian Stroma-Rich Ganglioneuroblastoma INT028
Internal Auditory Canal Lipoma INT036
Internal Auditory Canal Meningioma INT027
Internal Carotid Agenesis INT095
Internal Carotid Arteries, Hypoplasia of INT317
Internal Carotid Artery, Spontaneous Dissection of INT315
Internal Hemorrhoid INT059
Internal Hordeolum INT047
Internal Pathological Resorption INT045
Internuclear Ophthalmoplegia INT042
Interstitial Cystitis INT143
Interstitial Emphysema INT011
Interstitial Granulomatous Dermatitis with Arthritis INT189
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 Disaccharidase Deficiency INT043
Intestinal Disease INT068
Intestinal Impaction INT050
Intestinal Neuroendocrine Benign Tumor INT252
Intestinal Obstruction INT070
Intestinal Perforation INT071
Intestinal Pseudo-Obstruction INT072
Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth INT302
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked INT319
Intestinal Schistosomiasis INT017
Intestinal Tuberculosis INT046
Intestinal Variant Cervical Mucinous Adenocarcinoma INT044
Intestinal Volvulus INT052
Intestine Carcinoma in Situ INT019
Intra-Abdominal Lymph Node Mast Cell Malignancy INT057
Intracerebral Cystic Meningioma INT048
Intracortical Osteogenic Sarcoma INT073
Intracranial Abscess INT009
Intracranial Aneurysm INT030
Intracranial Aneurysms Multiple Congenital Anomaly INT097
Intracranial Arteriosclerosis INT074
Intracranial Berry Aneurysm INT260
Intracranial Cavernous Angioma INT034
Intracranial Chondrosarcoma INT033
Intracranial Cysts INT110
Intracranial Embolism INT010
Intracranial Hypertension INT075
Intracranial Hypertension, Idiopathic INT303
Intracranial Hypotension INT003
Intracranial Liposarcoma INT021
Intracranial Primitive Neuroectodermal Tumor INT022
Intracranial Sinus Thrombosis INT076
Intracranial Structure Hemangioma INT077
Intracranial Thrombosis INT078
Intracranial Vasospasm INT053
Intractable Diarrhea-Choanal Atresia-Eye Anomalies Syndrome INT285
Intracystic Papillary Adenoma INT015
Intraductal Breast Myoepitheliosis INT032
Intraductal Papilloma INT016
Intrahepatic Bile Duct Adenoma INT049
Intrahepatic Bile Duct Cystadenoma INT037
Intrahepatic Biliary Papillomatosis INT039
Intrahepatic Cholangiocarcinoma INT079
Intrahepatic Cholestasis INT001
Intrahepatic Gall Duct Cancer INT014
Intralobar Congenital Pulmonary Sequestration INT186
Intramural Coronary Arterial Course INT219
Intramuscular Hemangioma INT013
Intraneural Perineurioma INT004
Intranuclear Rod Myopathy INT109
Intraocular Lymphoma INT054
Intraocular Medulloepithelioma INT176
Intraocular Melanoma INT080
Intraocular Pressure Quantitative Trait Locus INT323
Intraocular Retinoblastoma INT082
Intraorbital Meningioma INT058
Intrapelvic Lymph Node Leukemic Reticuloendotheliosis INT035
Intrathoracic Kidney Vertebral Fusion INT100
Intratubular Embryonal Carcinoma INT041
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome INT279
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies INT147
Intrauterine Growth Retardation - Mandibular Malar Hypoplasia INT101
Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity INT102
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies INT324
Intrauterine Infections INT103
Intravascular Angioleiomyoma INT056
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 and R Binder, Combined Congenital Deficiency of INT318
Intrinsic Factor Deficiency INT088
Intussusception INT051
Invasive Aspergillosis INV001
Invasive Bladder Transitional Cell Carcinoma INV004
Invasive Infections Due to Vancomycin-Resistant Enterococci INV020
Invasive Malignant Thymoma INV003
Invasive Mole INV018
Invasive Non-Typhoidal Salmonellosis INV015
Invasive Pneumococcal Disease, Recurrent Isolated, 1 INV008
Invasive Pneumococcal Disease, Recurrent Isolated, 2 INV007
Inverse Klippel-Trénaunay Syndrome INV019
Inverse Marcus-Gunn Phenomenon INV017
Inverted Follicular Keratosis INV005
Inverted Papilloma INV006
Inverted Transitional Papilloma INV002
Iodine Antenatal Exposure IDN004
Iodine Hypothyroidism IDN001
Iqsec2 IQS001
Irak4 Deficiency IRK001
Irf6-Related Disorders IRF001
Iridocorneal Endothelial Syndrome IRD003
Iridocyclitis IRD001
Iridogoniodysgenesis and Skeletal Anomalies IRD004
Irinotecan Toxicity IRN007
Iris Disease IRS003
Iris Hypoplasia with Glaucoma IRS009
Iris Mixed Cell Melanoma IRS002
Iris Pattern IRS011
Iris Pigment Epithelium Anomalies IRS010
Iris Pigment Layer, Cleavage of IRS008
Iris Spindle Cell Melanoma IRS001
Iritis IRT001
Iron Deficiency Anemia IRN001
Iron Metabolism Disease IRN002
Iron Overload in Africa IRN008
Iron-Refractory Iron Deficiency Anemia IRN004
Irons Bhan Syndrome IRN005
Irregular Astigmatism IRR001
Irritable Bowel Syndrome IRR002
Irritant Dermatitis IRR003
Irvan Syndrome IRV001
Isca2-Related Mitochondrial Disorder ISC017
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
Ischiadic Hypoplasia Renal Dysfunction Immunodeficiency ISC007
Ischio-Vertebral Syndrome ISC011
Ischiocoxopodopatellar Syndrome ISC016
Islet Cell Tumor ISL001
Isobutyryl-Coa Dehydrogenase Deficiency ISB001
Isochromosome Yp ISC010
Isochromosomy Yq ISC013
Isodicentric 15 ISD001
Isodicentric Chromosome 15 Syndrome ISD002
Isolated Agammaglobulinemia ISL085
Isolated Agenesis of Gallbladder ISL105
Isolated Amyelia ISL035
Isolated Aniridia ISL011
Isolated Ankyloblepharon Filiforme Adnatum ISL064
Isolated Anorectal Malformation ISL029
Isolated Anterior Cervical Hypertrichosis ISL037
Isolated Arhinencephaly ISL044
Isolated Arrhinia ISL111
Isolated Asymptomatic Elevation of Creatine Phosphokinase ISL053
Isolated Atp Synthase Deficiency ISL082
Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type ISL027
Isolated Bilateral Hemispheric Cerebellar Hypoplasia ISL046
Isolated Bone Marrow Mastocytosis ISL032
Isolated Brachycephaly ISL061
Isolated Cerebellar Agenesis ISL120
Isolated Cerebellar Vermis Agenesis ISL048
Isolated Cerebellar Vermis Hypoplasia ISL028
Isolated Cleft Lip ISL109
Isolated Complex Iii Deficiency ISL116
Isolated Congenital Alacrima ISL065
Isolated Congenital Auditory Ossicle Malformation ISL023
Isolated Congenital Breast Hypoplasia/aplasia ISL100
Isolated Congenital Ectropion ISL071
Isolated Congenital Hepatic Fibrosis ISL112
Isolated Congenital Megalocornea ISL067
Isolated Congenital Microcephaly ISL106
Isolated Congenital Nasal Pyriform Aperture Stenosis ISL022
Isolated Congenital Radial Head Dislocation ISL117
Isolated Congenital Syngnathia ISL107
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 Duane Retraction Syndrome ISL019
Isolated Ectopia Lentis ISL078
Isolated Encephalocele ISL079
Isolated Facial Myokymia ISL055
Isolated Focal Cortical Dysplasia Type I ISL045
Isolated Focal Cortical Dysplasia Type Ia ISL040
Isolated Focal Cortical Dysplasia Type Ib ISL038
Isolated Focal Cortical Dysplasia Type Ic ISL039
Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma ISL103
Isolated Gonadotropin-Releasing Hormone Deficiency ISL004
Isolated Growth Hormone Deficiency ISL003
Isolated Growth Hormone Deficiency, Type Ia ISL014
Isolated Growth Hormone Deficiency, Type Ib ISL015
Isolated Growth Hormone Deficiency, Type Ii ISL114
Isolated Growth Hormone Deficiency, Type Iii ISL115
Isolated Hyperckemia ISL077
Isolated Klippel-Feil Syndrome ISL096
Isolated Levocardia ISL072
Isolated Lissencephaly Type 1 Without Known Genetic Defects ISL056
Isolated Megalencephaly ISL034
Isolated Methylmalonic Acidemia ISL099
Isolated Micropenis ISL069
Isolated Neonatal Sclerosing Cholangitis ISL110
Isolated Optic Neuritis ISL119
Isolated Oxycephaly ISL087
Isolated Partial Cerebellar Vermis Agenesis ISL051
Isolated Partial Vaginal Agenesis ISL068
Isolated Pierre Robin Sequence ISL075
Isolated Plagiocephaly ISL062
Isolated Pulmonary Capillaritis ISL036
Isolated Scaphocephaly ISL089
Isolated Splenogonadal Fusion ISL108
Isolated Split Hand-Split Foot Malformation ISL121
Isolated Sternocostoclavicular Hyperostosis ISL026
Isolated Total Cerebellar Vermis Agenesis ISL052
Isolated Tracheoesophageal Fistula ISL118
Isolated Trigonocephaly ISL084
Isolated Unilateral Hemispheric Cerebellar Hypoplasia ISL047
Isoniazid Toxicity ISN001
Isoproterenol-Mediated Vasodilatation ISP002
Isotretinoin Embryopathy-Like Syndrome IST007
Isotretinoin Syndrome IST006
Isovaleric Acid, Inability to Smell ISV002
Isovaleric Acidemia ISV001
Israeli Tick Typhus ISR001
Isthmian Coarctation IST003
Isthmus Cancer IST001
Itch E3 Ubiquitin Ligase Deficiency ITC001
Ivic Syndrome IVC001
Content
Loading form....