Disease Name Symbol Acronym
Iatrogenic Botulism ITR001
Iatrogenic Creutzfeldt-Jakob Disease ITR003 ICJD
Ichthyosis ICH004
Ichthyosis Alopecia Eclabion Ectropion Mental Retardation ICH006
Ichthyosis and Male Hypogonadism ICH007
Ichthyosis Bullosa of Siemens ICH002 IBS
Ichthyosis Congenita with Biliary Atresia ICH076
Ichthyosis Follicularis Atrichia Photophobia Syndrome ICH011
Ichthyosis Hystrix Gravior ICH012
Ichthyosis Hystrix, Curth-Macklin Type ICH073 IHCM
Ichthyosis Lamellar 1 ICH014 LI1
Ichthyosis Lamellar 3 ICH016
Ichthyosis Linearis Circumflexa ICH018
Ichthyosis Prematurity Syndrome ICH020 IPS
Ichthyosis Vulgaris ICH001 VI
Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation ICH065
Ichthyosis, Acquired ICH023
Ichthyosis, Congenital, Autosomal Recessive 1 ICH047 ARCI1
Ichthyosis, Congenital, Autosomal Recessive 10 ICH039 ARCI10
Ichthyosis, Congenital, Autosomal Recessive 11 ICH051 ARCI11
Ichthyosis, Congenital, Autosomal Recessive 12 ICH071 ARCI12
Ichthyosis, Congenital, Autosomal Recessive 13 ICH070 ARCI13
Ichthyosis, Congenital, Autosomal Recessive 14 ICH072 ARCI14
Ichthyosis, Congenital, Autosomal Recessive 2 ICH049 ARCI2
Ichthyosis, Congenital, Autosomal Recessive 3 ICH038 ARCI3
Ichthyosis, Congenital, Autosomal Recessive 4a ICH040 ARCI4A
Ichthyosis, Congenital, Autosomal Recessive 4b ICH069 ARCI4B
Ichthyosis, Congenital, Autosomal Recessive 5 ICH050 ARCI5
Ichthyosis, Congenital, Autosomal Recessive 6 ICH042 ARCI6
Ichthyosis, Congenital, Autosomal Recessive 7 ICH045 ARCI7
Ichthyosis, Congenital, Autosomal Recessive 8 ICH044 ARCI8
Ichthyosis, Congenital, Autosomal Recessive 9 ICH048 ARCI9
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis ICH036 AEI
Ichthyosis, Follicular ICH025
Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration ICH067
Ichthyosis, Hystrix-Like, with Deafness ICH035 HID SYNDROME
Ichthyosis, Lamellar, Autosomal Dominant ICH074 ADLI
Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis ICH026 ILVASC
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment ICH068
Ichthyosis, Spastic Quadriplegia, and Mental Retardation ICH043 ISQMR
Ichthyosis, Split Hairs, and Amino Aciduria ICH077
Ichthyosis, X-Linked ICH054 XLI
Ichthyosis, X-Linked, Without Steroid Sulfatase Deficiency ICH078
Ichthyosis--Cheek--Eyebrow Syndrome ICH066 ICE
Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin ICH027
Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features ICH079 IKSHD
Ideomotor Apraxia IDM001
Idiopathic Acute Eosinophilic Pneumonia IDP012 IAEP
Idiopathic Acute Transverse Myelitis IDP038
Idiopathic Alveolar Hypoventilation Syndrome IDP014
Idiopathic Anterior Uveitis IDP049
Idiopathic Avascular Necrosis IDP069
Idiopathic Bilateral Vestibulopathy IDP036
Idiopathic Bronchiectasis IDP074
Idiopathic Cd4-Positive T-Lymphocytopenia IDP001 ICL
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 Dropped Head Syndrome IDP079
Idiopathic Ductopenia IDP084 IAD
Idiopathic Edema IDP033
Idiopathic Eosinophilic Myositis IDP040
Idiopathic Eosinophilic Pneumonia IDP090
Idiopathic Gastroparesis IDP093
Idiopathic Hemiconvulsion-Hemiplegia Syndrome IDP067 IHHS
Idiopathic Hypercalciuria IDP073
Idiopathic Hypersomnia IDP031
Idiopathic Hypertrophic Pachymeningitis IDP081
Idiopathic Infantile Hypercalcemia IDP085 IIH
Idiopathic Interstitial Pneumonia IDP011 IPF
Idiopathic Isolated Micropenis IDP088
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 Multidrug-Resistant Nephrotic Syndrome IDP094
Idiopathic Neonatal Atrial Flutter IDP056
Idiopathic Nephrotic Syndrome IDP091
Idiopathic Neutropenia IDP064
Idiopathic Non-Lupus Full-House Nephropathy IDP097
Idiopathic Optic Perineuritis IDP087
Idiopathic or Cryptogenic Familial Epilepsy Syndrome with Identified Loci/genes IDP089
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 Pericarditis IDP041
Idiopathic Recurrent Stupor IDP042
Idiopathic Scoliosis IDP070
Idiopathic Spinal Cord Herniation IDP022 ISCH
Idiopathic Steroid-Resistant Nephrotic Syndrome IDP095
Idiopathic Steroid-Resistant Nephrotic Syndrome with Sensitivity to Second-Line Immunosuppressive Therapy IDP098
Idiopathic Steroid-Sensitive Nephrotic Syndrome with Secondary Steroid Resistance IDP096
Idiopathic Subglottic Tracheal Stenosis IDP023
Idiopathic Syringomyelia IDP062
Idiopathic Uveal Effusion Syndrome IDP043
Idiopathic Ventricular Fibrillation, Non Brugada Type IDP082
Idiopathic/heritable Pulmonary Arterial Hypertension IDP092
Ifap Syndrome 1, with or Without Bresheck Syndrome IFP002 IFAP1
Ifap Syndrome 2 IFP003 IFAP2
Iga Glomerulonephritis IGG001 IGAN
Iga Nephropathy 1 IGN003 IGAN1
Iga Nephropathy 2 IGN002 IGAN2
Iga Nephropathy 3 IGN004 IGAN3
Iga Pemphigus IGP001
Ige Responsiveness, Atopic IGR001 IGER
Igg4-Related Aortitis IGG010
Igg4-Related Disease IGG007
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
Ileus ILS001 ILEUS
Iliac Vein Thrombophlebitis ILC001
Illum Syndrome ILL003
Imagawa-Matsumoto Syndrome IMG002 IMMAS
Imerslund-Grasbeck Syndrome 1 IMR002 IGS1
Imerslund-Grasbeck Syndrome 2 IMR003 IGS2
Iminoglycinuria IMN001 IG
Immature Cataract IMM002
Immature Teratoma of Ovary IMM005
Immune Complex Mediated Vasculitis IMM206
Immune Deficiency Disease IMM167
Immune Deficiency with Skin Involvement IMM214
Immune Deficiency, Familial Variable IMM016
Immune Dysregulation and Systemic Hyperinflammation Syndrome IMM231 IMDYSHI
Immune Dysregulation Disease with Immunodeficiency IMM203
Immune Dysregulation with Inflammatory Bowel Disease IMM213
Immune Hydrops Fetalis IMM039 IHF
Immune Response to Synthetic Polypeptide--Irhgal IMM159 IHG
Immune Response to Synthetic Polypeptide--Irphegal IMM155 IPHEG
Immune Response to Synthetic Polypeptide--Irtgal IMM160 ITG
Immune System Disease IMM136
Immune System Organ Benign Neoplasm IMM006
Immune-Complex Glomerulonephritis IMM001
Immune-Mediated Acquired Neuromuscular Junction Disease IMM209
Immune-Mediated Encephalomyelitis IMM028
Immune-Mediated Thrombotic Thrombocytopenic Purpura IMM236 ATTP
Immunodeficiency 10 IMM065 IMD10
Immunodeficiency 11 IMM062 IMD11A
Immunodeficiency 11b with Atopic Dermatitis IMM145 IMD11B
Immunodeficiency 12 IMM071 IMD12
Immunodeficiency 13 IMM070 IMD13
Immunodeficiency 14 IMM102 IMD14
Immunodeficiency 15a IMM196 IMD15A
Immunodeficiency 15b IMM195 IMD15B
Immunodeficiency 16 IMM074 IMD16
Immunodeficiency 17 IMM184 IMD17
Immunodeficiency 18 IMM082 IMD18
Immunodeficiency 19 IMM081 IMD19
Immunodeficiency 20 IMM077 IMD20
Immunodeficiency 21 IMM078 IMD21
Immunodeficiency 22 IMM075 IMD22
Immunodeficiency 23 IMM080 IMD23
Immunodeficiency 24 IMM076 IMD24
Immunodeficiency 25 IMM085 IMD25
Immunodeficiency 26 IMM234 IMD26
Immunodeficiency 26 with or Without Neurologic Abnormalities IMM185 IMD26
Immunodeficiency 27a IMM166 IMD27A
Immunodeficiency 27b IMM186 IMD27B
Immunodeficiency 28 IMM180 IMD28
Immunodeficiency 29 IMM181 IMD29
Immunodeficiency 30 IMM096 IMD30
Immunodeficiency 31a IMM182 IMD31A
Immunodeficiency 31b IMM178 IMD31B
Immunodeficiency 31c IMM179 IMD31C
Immunodeficiency 32a IMM183 IMD32A
Immunodeficiency 32b IMM138 IMD32B
Immunodeficiency 33 IMM099 IMD33
Immunodeficiency 34 IMM172 IMD34
Immunodeficiency 35 IMM095 IMD35
Immunodeficiency 36 IMM088 IMD36
Immunodeficiency 37 IMM103 IMD37
Immunodeficiency 38 with Basal Ganglia Calcification IMM187 IMD38
Immunodeficiency 39 IMM123 IMD39
Immunodeficiency 40 IMM120 IMD40
Immunodeficiency 41 with Lymphoproliferation and Autoimmunity IMM122 IMD41
Immunodeficiency 42 IMM118 IMD42
Immunodeficiency 43 IMM149 IMD43
Immunodeficiency 44 IMM148 IMD44
Immunodeficiency 45 IMM152 IMD45
Immunodeficiency 46 IMM135 IMD46
Immunodeficiency 47 IMM140 IMD47
Immunodeficiency 48 IMM143 IMD48
Immunodeficiency 49 IMM141 IMD49
Immunodeficiency 50 IMM142 IMD50
Immunodeficiency 51 IMM153 IMD51
Immunodeficiency 52 IMM150 IMD52
Immunodeficiency 53 IMM151 IMD53
Immunodeficiency 54 IMM177 IMD54
Immunodeficiency 55 IMM190 IMD55
Immunodeficiency 56 IMM191 IMD56
Immunodeficiency 57 with Autoinflammation IMM219 IMD57
Immunodeficiency 58 IMM193 IMD58
Immunodeficiency 59 and Hypoglycemia IMM194 IMD59
Immunodeficiency 60 IMM199 IMD60
Immunodeficiency 61 IMM198 IMD61
Immunodeficiency 62 IMM200 IMD62
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity IMM201 IMD63
Immunodeficiency 64 IMM202 IMD64
Immunodeficiency 65 IMM235 IMD65
Immunodeficiency 65 Viral Infections IMM218 IMD65
Immunodeficiency 66 IMM220 IMD66
Immunodeficiency 67 IMM222 IMD67
Immunodeficiency 68 IMM224 IMD68
Immunodeficiency 69 IMM226 IMD69
Immunodeficiency 70 IMM227 IMD70
Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia IMM225 IMD71
Immunodeficiency 72 with Autoinflammation IMM228 IMD72
Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis IMM223 IMD73A
Immunodeficiency 73b with Defective Neutrophil Chemotaxis and Lymphopenia IMM229 IMD73B
Immunodeficiency 73c with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia IMM230 IMD73C
Immunodeficiency 74, Covid19-Related, X-Linked IMM221 IMD74
Immunodeficiency 75 IMM232 IMD75
Immunodeficiency 76 IMM233 IMD76
Immunodeficiency 8 IMM068 IMD8
Immunodeficiency 9 IMM066 IMD9
Immunodeficiency by Defective Expression of Mhc Class I IMM212
Immunodeficiency Due to a Classical Component Pathway Complement Deficiency IMM132
Immunodeficiency Due to a Complement Cascade Component Deficiency IMM210
Immunodeficiency Due to a Complement Cascade Protein Anomaly IMM216
Immunodeficiency Due to a Complement Regulatory Deficiency IMM211
Immunodeficiency Due to a Late Component of Complement Deficiency IMM128
Immunodeficiency Due to Absence of Thymus IMM052
Immunodeficiency Due to Defect in Mapbp-Interacting Protein IMM029 ID-MAPBPIP
Immunodeficiency Predominantly Affecting Antibody Production IMM217
Immunodeficiency Syndrome with Autoimmunity IMM205
Immunodeficiency with Defective T-Cell Response to Interleukin 1 IMM171
Immunodeficiency with Hyper-Igm, Type 1 IMM174 HIGM1
Immunodeficiency with Hyper-Igm, Type 2 IMM104 HIGM2
Immunodeficiency with Hyper-Igm, Type 3 IMM105 HIGM3
Immunodeficiency with Hyper-Igm, Type 4 IMM131 HIGM4
Immunodeficiency with Hyper-Igm, Type 5 IMM176 HIGM5
Immunodeficiency with Isotype or Light Chain Deficiencies with Normal Number of B-Cells IMM207
Immunodeficiency with Severe Reduction in Serum Igg and Iga with Normal/elevated Igm and Normal Number of B-Cells IMM208
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia IMM023
Immunodeficiency, Common Variable, 1 IMM038 CVID1
Immunodeficiency, Common Variable, 10 IMM064 CVID10
Immunodeficiency, Common Variable, 11 IMM079 CVID11
Immunodeficiency, Common Variable, 12 IMM119 CVID12
Immunodeficiency, Common Variable, 13 IMM134 CVID13
Immunodeficiency, Common Variable, 14 IMM189 CVID14
Immunodeficiency, Common Variable, 2 IMM034 CVID2
Immunodeficiency, Common Variable, 3 IMM030 CVID3
Immunodeficiency, Common Variable, 4 IMM035 CVID4
Immunodeficiency, Common Variable, 5 IMM032 CVID5
Immunodeficiency, Common Variable, 6 IMM037 CVID6
Immunodeficiency, Common Variable, 7 IMM058 CVID7
Immunodeficiency, Common Variable, 8, with Autoimmunity IMM055 CVID8
Immunodeficiency, Developmental Delay, and Hypohomocysteinemia IMM188 IMDDHH
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 XMEN
Immunodeficiency-Associated Lymphoproliferative Disease IMM215
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome IMM011 ICF
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 IMM072 ICF1
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 IMM056 ICF2
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 IMM133 ICF3
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 IMM147 ICF4
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked IMM106 IPEX
Immunoerythromyeloid Hypoplasia IMM169
Immunoglobulin a Deficiency 1 IMM154 IGAD1
Immunoglobulin a Deficiency 2 IMM025 IGAD2
Immunoglobulin Alpha Deficiency IMM003
Immunoglobulin Beta Deficiency IMM004
Immunoglobulin D Level in Plasma, Low IMM170
Immunoglobulin E Concentration, Serum IMM162 IGES
Immunoglobulin G Deficiency IMM044
Immunoglobulin Kappa Light Chain Deficiency IMM100 IGKCD
Immunoglobulin M, Level of IMM175
Immunoglobulin Switch Sequences IMM165
Immunoneurologic Disorder, X-Linked IMM130
Immuno-Osseous Dysplasia IMM204
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities IMM146 ISDNA
Immunotactoid Glomerulopathy IMM053
Immunotactoid or Fibrillary Glomerulopathy IMM051
Impacted Teeth, Multiple IMP016
Impairment of Oral Perception IMP007
Impdh2 Enzyme Activity, Variation in IMP012 IMPDH2V
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
Inappropriate Adh Syndrome INP001 SIADH
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 of Bone with or Without Frontotemporal Dementia 1 INC034 MSP1
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 2 INC033 MSP2
Inclusion Body Myopathy with Early-Onset Paget Disease of Bone with or Without Frontotemporal Dementia 3 INC035 MSP3
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 INC029 IBMPFD1
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 INC015 IBMPFD2
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 INC031 IBMPFD3
Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia INC018
Inclusion Body Myositis INC002 IBM
Inclusion Conjunctivitis INC003
Inclusion Myopathy INC032
Incontinentia Pigmenti INC021 IP
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 CIP
Indolent B Cell Lymphoma IND005
Indolent B-Cell Non-Hodgkin Lymphoma IND016
Indolent Plasma Cell Myeloma IND017
Indolent Primary Cutaneous B-Cell Lymphoma IND015
Indolent Primary Cutaneous T-Cell Lymphoma IND014
Indolent Systemic Mastocytosis IND002 ISM
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 AOI
Infantile Axonal Neuropathy INF044
Infantile Bartter Syndrome with Sensorineural Deafness INF164
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development INF174 CASGID
Infantile Cerebellar-Retinal Degeneration INF129 ICRD
Infantile Choroidocerebral Calcification Syndrome INF139
Infantile Digital Fibromatosis INF046 IDF
Infantile Epilepsy Syndrome INF185
Infantile Free Sialic Acid Storage Disease INF047 ISSD
Infantile Hemangioma of Rare Localization INF180
Infantile Hypotonia INF065
Infantile Krabbe Disease INF122
Infantile Liver Failure Syndrome INF194
Infantile Liver Failure Syndrome 1 INF145 ILFS1
Infantile Liver Failure Syndrome 2 INF138 ILFS2
Infantile Liver Failure Syndrome 3 INF190 ILFS3
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 Scoliosis INF052
Infantile Sialic Acid Storage Disease INF159 ISSD
Infantile Spasms Broad Thumbs INF053
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome INF171
Infantile Striato Thalamic Degeneration INF054
Infantile-Onset Ascending Hereditary Spastic Paralysis INF041 IAHSP
Infantile-Onset Axonal Motor and Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome INF155 ANOAC
Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression INF141
Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia INF192
Infected Hydrocele INF025
Infection-Related Hemolytic Uremic Syndrome INF182
Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations INF158 IEHDCM
Infectious Anterior Uveitis INF019
Infectious Disease of the Nervous System INF187
Infectious Disease with Dementia INF189
Infectious Disease with Epilepsy INF176
Infectious Disease with Peripheral Neuropathy INF178
Infectious Embryofetopathy INF181
Infectious Encephalitis INF186
Infectious Epithelial Keratitis INF115
Infectious Myocarditis INF055
Infectious Panuveitis INF151
Infectious Posterior Uveitis INF152
Infectious, Fungal or Parasitic Myopathy INF179
Infective Dermatitis Associated with Htlv-1 INF127 IDH
Infective Endocarditis INF034
Infective Keratitis INF184
Infective Myositis INF134
Infective Urethral Stricture INF004
Inferior Myocardial Infarction INF013
Inferior Vena Cava Interruption Without Azygos Continuation INF188
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 Autoimmune Disease with Epilepsy INF177
Inflammatory and Toxic Neuropathy INF036
Inflammatory Bowel Disease INF037
Inflammatory Bowel Disease 1 INF071 IBD1
Inflammatory Bowel Disease 10 INF067 IBD10
Inflammatory Bowel Disease 19 INF077 IBD19
Inflammatory Bowel Disease 30 INF193 IBD30
Inflammatory Bowel Disease 11 INF072 IBD11
Inflammatory Bowel Disease 12 INF073 IBD12
Inflammatory Bowel Disease 13 INF068 IBD13
Inflammatory Bowel Disease 14 INF093 IBD14
Inflammatory Bowel Disease 15 INF074 IBD15
Inflammatory Bowel Disease 16 INF075 IBD16
Inflammatory Bowel Disease 17 INF160 IBD17
Inflammatory Bowel Disease 18 INF076 IBD18
Inflammatory Bowel Disease 2 INF078 IBD2
Inflammatory Bowel Disease 20 INF079 IBD20
Inflammatory Bowel Disease 21 INF080 IBD21
Inflammatory Bowel Disease 22 INF081 IBD22
Inflammatory Bowel Disease 23 INF082 IBD23
Inflammatory Bowel Disease 24 INF083 IBD24
Inflammatory Bowel Disease 25 INF162 IBD25
Inflammatory Bowel Disease 25, Autosomal Recessive INF063 IBD25
Inflammatory Bowel Disease 26 INF084 IBD26
Inflammatory Bowel Disease 27 INF085 IBD27
Inflammatory Bowel Disease 28 INF161 IBD28
Inflammatory Bowel Disease 28, Autosomal Recessive INF064 IBD28
Inflammatory Bowel Disease 29 INF170 IBD29
Inflammatory Bowel Disease 3 INF086 IBD3
Inflammatory Bowel Disease 4 INF087 IBD4
Inflammatory Bowel Disease 5 INF088 IBD5
Inflammatory Bowel Disease 6 INF089 IBD6
Inflammatory Bowel Disease 7 INF090 IBD7
Inflammatory Bowel Disease 8 INF091 IBD8
Inflammatory Bowel Disease 9 INF092 IBD9
Inflammatory Bowel Disease, Immunodeficiency, and Encephalopathy INF173 IBDIMDE
Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome INF175
Inflammatory Breast Carcinoma INF023
Inflammatory Diarrhea INF002
Inflammatory Leiomyosarcoma INF031
Inflammatory Linear Verrucous Epidermal Nevus INF057 ILVEN
Inflammatory Liposarcoma INF018
Inflammatory Myofibroblastic Tumor INF058
Inflammatory Myopathy with Abundant Macrophages INF118 IMAM
Inflammatory Skin and Bowel Disease, Neonatal, 1 INF144 NISBD1
Inflammatory Skin and Bowel Disease, Neonatal, 2 INF146 NISBD2
Inflammatory Spondylopathy INF009
Inflammatory/autoimmune Disorder Involving the Lacrimal System INF183
Influenza INF038 FLU
Influenza, Severe INF136
Infratentorial Cancer INF039
Infundibulo-Neurohypophysitis INF124
Infundibulopelvic Dysgenesis INF059
Inguinal Hernia ING001
Inhalation Anthrax INH001
Inhalational Botulism INH013
Inherited Bone Marrow Failure Syndromes INH011 BMFS
Inherited Cancer-Predisposing Syndrome INH023
Inherited Congenital Spastic Tetraplegia INH017
Inherited Digestive Cancer-Predisposing Syndrome INH029
Inherited Epidermolysis Bullosa INH031
Inherited Gynecological Cancer-Predisposing Syndrome INH033
Inherited Human Prion Disease INH032
Inherited Ichthyosis INH022
Inherited Ichthyosis Syndromic Form INH027
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency INH021
Inherited Metabolic Disorder INH020
Inherited Nervous System Cancer-Predisposing Syndrome INH024
Inherited Non-Syndromic Ichthyosis INH028
Inherited Renal Cancer-Predisposing Syndrome INH026
Inherited Retinal Disorder INH030
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 ITPAD
Insect Stings, Hypersensitivity to INS030
Insensitivity to Pain with Hyperplastic Myelinopathy INS029
Insensitivity to Pain, Congenital, with Anhidrosis INS023 CIPA
Insr-Related Severe Syndromic Insulin Resistance INS033
Insulin Receptors, Familial Increase in INS028
Insulin-Like Growth Factor I INS024 IGF1RES
Insulinoma INS001
Insulinoma Tumor Suppressor Gene Locus INS032
Insulinomatosis and Diabetes Mellitus INS034 INSDM
Insulin-Resistance Type B INS009
Integrative Agnosia INT031
Integumentary System Disease INT379
Intellectual Deficit - Short Stature - Hypertelorism INT089
Intellectual Developmental Disorder and Retinitis Pigmentosa INT334 IDDRP
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature INT339 IDDABS
Intellectual Developmental Disorder with Autism and Speech Delay INT333 IDDAS
Intellectual Developmental Disorder with Autistic Features and Language Delay, with or Without Seizures INT378 IDDALDS
Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or Without Seizures INT374 IDDBCS
Intellectual Developmental Disorder with Cardiac Arrhythmia INT313 IDDCA
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies INT337 IDDCDF
Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities INT328 IDDFBA
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis INT310 IDDDFP
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies INT312 IDDFSDA
Intellectual Developmental Disorder with Epilepsy, Behavioral Abnormalities, and Coarse Facies INT390 IDDEBF
Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies INT330 IDDHDF
Intellectual Developmental Disorder with Hypotonia and Behavioral Abnormalities INT368 IDDHBA
Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies INT363 IDDILF
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay INT331 IDDMSSD
Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies INT362 IDNADFS
Intellectual Developmental Disorder with Neuropsychiatric Features INT311 IDDNPF
Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia INT327 IDDECA
Intellectual Developmental Disorder with Paroxysmal Dyskinesia or Seizures INT392 IDDPADS
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin INT309 IDPFH
Intellectual Developmental Disorder with Poor Growth and with or Without Seizures or Ataxia INT376 IDPOGSA
Intellectual Developmental Disorder with Seizures and Language Delay INT389 IDDSELD
Intellectual Developmental Disorder with Severe Speech and Ambulation Defects INT347 IDDSSAD
Intellectual Developmental Disorder with Short Stature and Behavioral Abnormalities INT366 IDDSSBA
Intellectual Developmental Disorder with Short Stature and Variable Skeletal Anomalies INT346 IDDSSA
Intellectual Developmental Disorder with Short Stature, Facial Anomalies, and Speech Defects INT343 IDDSFAS
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy INT391 IDDSAPN
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies INT365 IDDSADF
Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-Cell Abnormalities INT329 IDDSFTA
Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly INT373 MRD44
Intellectual Developmental Disorder, Autosomal Dominant 59 INT386 MRD59
Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures INT387 MRD60
Intellectual Developmental Disorder, Autosomal Dominant 61 INT385 MRD61
Intellectual Developmental Disorder, Autosomal Dominant 62 INT388 MRD62
Intellectual Developmental Disorder, Autosomal Dominant 63, with Macrocephaly INT377 MRD63
Intellectual Developmental Disorder, Autosomal Dominant 64 INT393 MRD64
Intellectual Developmental Disorder, Autosomal Recessive 67 INT335 MRT67
Intellectual Developmental Disorder, Autosomal Recessive 68 INT336 MRT68
Intellectual Developmental Disorder, Autosomal Recessive 69 INT344 MRT69
Intellectual Developmental Disorder, Autosomal Recessive 70 INT345 MRT70
Intellectual Developmental Disorder, Autosomal Recessive 71 INT348 MRT71
Intellectual Developmental Disorder, Autosomal Recessive 72 INT364 MRT72
Intellectual Developmental Disorder, X-Linked 108 INT342 MRX108
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type INT383 MRXSA
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type INT371 MRXSHD
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type INT372 MRXSLF
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type INT369 MRXSR
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type INT370 MRXSSB
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type INT384 MRXSW
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-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-Short Stature-Hypertelorism Syndrome INT294
Intellectual Disability-Spasticity-Ectrodactyly Syndrome INT286
Intelligence Quantitative Trait Locus 1 INT320
Intelligence Quantitative Trait Locus 2 INT321
Intelligence Quantitative Trait Locus 3 INT322
Interatrial Communication INT276 ASD
Intercalary Limb Defects INT355
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 Atrioventricular Septal Defect INT382
Intermediate Cell Type Ciliary Body Melanoma INT023
Intermediate Congenital Nemaline Myopathy INT274
Intermediate Coronary Syndrome INT007
Intermediate Dend Syndrome INT222
Intermediate Isolated Anorectal Malformation INT350
Intermediate Malignant Teratoma INT005
Intermediate Maple Syrup Urine Disease INT262
Intermediate Severe Salla Disease INT094
Intermediate Uveitis INT064 IU
Intermittent Asthma INT394
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 Absence INT396
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 IC
Interstitial Emphysema INT011
Interstitial Granulomatous Dermatitis with Arthritis INT189 IGDA
Interstitial Keratitis INT065
Interstitial Lung and Liver Disease INT271 ILLD
Interstitial Lung Disease INT066 ILD
Interstitial Lung Disease in Childhood and Adulthood INT353
Interstitial Lung Disease Specific to Adulthood INT352
Interstitial Lung Disease Specific to Childhood INT354
Interstitial Lung Disease Specific to Infancy INT351
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital INT224 ILNEB
Interstitial Myocarditis INT062
Interstitial Nephritis INT067
Interstitial Nephritis, Karyomegalic INT258 KMIN
Interstitial Pneumonitis, Desquamative, Familial INT304 DIP
Interval Angle-Closure Glaucoma INT012
Intervertebral Disc Disease INT146 IDD
Intestinal Atresia INT060
Intestinal Benign Neoplasm INT253
Intestinal Botulism INT006
Intestinal Disaccharidase Deficiency INT043
Intestinal Disease INT068
Intestinal Disease Due to Fat Malabsorption INT359
Intestinal Disease Due to Vitamin Absorption Anomaly INT360
Intestinal Impaction INT050
Intestinal Malformation INT357
Intestinal Neuroendocrine Benign Tumor INT252
Intestinal Obstruction INT070
Intestinal Perforation INT071
Intestinal Polyposis Syndrome INT358
Intestinal Pseudo-Obstruction INT072 IPO
Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth INT302
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked INT319 CSBSX
Intestinal Schistosomiasis INT017
Intestinal Tuberculosis INT046
Intestinal Variant Cervical Mucinous Adenocarcinoma INT044
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 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 IIH
Intracranial Hypotension INT003
Intracranial Liposarcoma INT021
Intracranial Meningioma INT395
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 Benign Neoplasm INT380
Intraductal Breast Myoepitheliosis INT032
Intraductal Papilloma INT016
Intraductal Tubulopapillary Neoplasm of Pancreas INT381 ITPN
Intrahepatic Bile Duct Adenoma INT049
Intrahepatic Bile Duct Cystadenoma INT037
Intrahepatic Biliary Papillomatosis INT039
Intrahepatic Cholangiocarcinoma INT079
Intrahepatic Cholestasis of Pregnancy INT099 ICP
Intrahepatic Gall Duct Cancer INT014
Intralobar Congenital Pulmonary Sequestration INT186
Intramuscular Hemangioma INT013
Intraneural Perineurioma INT004
Intranuclear Rod Myopathy INT109
Intraocular Lymphoma INT054 PIOL
Intraocular Medulloepithelioma INT176
Intraocular Pressure Quantitative Trait Locus INT323 IOPQTL
Intraocular Retinoblastoma INT082
Intraorbital Meningioma INT058
Intrapelvic Lymph Node Leukemic Reticuloendotheliosis INT035
Intratubular Embryonal Carcinoma INT041
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome INT279
Intrauterine Growth Retardation with Increased Mitomycin C Sensitivity INT102
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies INT324 IMAGE
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, and Immunodeficiency INT338 IMAGEI
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 IFD
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
Inverse Klippel-Trenaunay Syndrome INV014
Inverse Marcus-Gunn Phenomenon INV017
Inverted Duplicated Chromosome 15 Syndrome INV022
Inverted Follicular Keratosis INV005
Inverted Papilloma INV006
Inverted Transitional Papilloma INV002
Iodine Antenatal Exposure IDN004
Iodine Hypothyroidism IDN001
Iqsec2 IQS001
Irf6-Related Disorders IRF001
Iridocorneal Endothelial Syndrome IRD003
Iridocyclitis IRD001
Iridogoniodysgenesis and Skeletal Anomalies IRD004
Iris Disease IRS003
Iris Hypoplasia with Glaucoma IRS009 IHG
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
Iron Overload in Africa IRN008
Iron-Refractory Iron Deficiency Anemia IRN004 IRIDA
Irons Bhan Syndrome IRN005
Irregular Astigmatism IRR001
Irritable Bowel Syndrome IRR002 IBD
Irritant Dermatitis IRR003
Irvan Syndrome IRV001
Isca1-Related Multiple Mitochondrial Dysfunctions Syndrome ISC021
Isca2-Related Mitochondrial Disorder ISC017
Ischemia ISC004
Ischemic Bone Disease ISC005
Ischemic Colitis ISC015
Ischemic Fasciitis ISC003
Ischemic Neuropathy ISC001
Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension ISC020 ICPPS
Ischiovertebral Syndrome ISC019
Islet Cell Tumor ISL001 PNET
Isobutyryl-Coa Dehydrogenase Deficiency ISB001 IBDD
Isochromosome Y ISC012
Isochromosome Yp ISC010 I
Isochromosomy Yq ISC013
Isocyanates Allergic Asthma ISC018
Isodicentric 15 ISD001
Isodicentric Chromosome 15 Syndrome ISD002
Isolated Agammaglobulinemia ISL085
Isolated Agenesis of Gallbladder ISL105
Isolated Amyelia ISL035
Isolated Anencephaly ISL155
Isolated Aniridia ISL011
Isolated Ankyloblepharon Filiforme Adnatum ISL064
Isolated Anorectal Malformation ISL029
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 Blepharochalasis ISL127
Isolated Bone Marrow Mastocytosis ISL032
Isolated Brachycephaly ISL061
Isolated Cerebellar Agenesis ISL120
Isolated Cerebellar Vermis Agenesis ISL048
Isolated Cerebellar Vermis Hypoplasia ISL028
Isolated Chorioretinal Dystrophy ISL146
Isolated Cleft Lip ISL109
Isolated Complex Iii Deficiency ISL116
Isolated Congenital Aglossia ISL153
Isolated Congenital Alacrima ISL065
Isolated Congenital Auditory Ossicle Malformation ISL023
Isolated Congenital Breast Hypoplasia/aplasia ISL100
Isolated Congenital Ectropion ISL071
Isolated Congenital Entropion ISL130
Isolated Congenital Hepatic Fibrosis ISL112
Isolated Congenital Hypoglossia ISL152
Isolated Congenital Hypogonadotropic Hypogonadism ISL139
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 Constitutional Thrombocytopenia ISL142
Isolated Craniosynostosis ISL134
Isolated Dandy-Walker Malformation with Hydrocephalus ISL050
Isolated Dandy-Walker Malformation Without Hydrocephalus ISL049
Isolated Delta-Storage Pool Disease ISL033
Isolated Diffuse Palmoplantar Keratoderma ISL140
Isolated Duane Retraction Syndrome ISL019
Isolated Dystonia ISL135
Isolated Ectopia Lentis ISL078 IEL
Isolated Elevated Serum Creatine Phosphokinase Levels ISL151 H-CK
Isolated Encephalocele ISL079
Isolated Epispadias ISL133
Isolated Exencephaly ISL154
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 Palmoplantar Keratoderma ISL141
Isolated Foveal Hypoplasia ISL131
Isolated Gonadotropin-Releasing Hormone Deficiency ISL004
Isolated Growth Hormone Deficiency ISL003 IGHD
Isolated Growth Hormone Deficiency Type Iii ISL125 IGHD3
Isolated Growth Hormone Deficiency, Type Ia ISL014 IGHD1A
Isolated Growth Hormone Deficiency, Type Ib ISL015 IGHD1B
Isolated Growth Hormone Deficiency, Type Ii ISL114 IGHD2
Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia ISL122 IGHD3
Isolated Growth Hormone Deficiency, Type Iv ISL123 IGHD4
Isolated Growth Hormone Deficiency, Type V ISL124 IGHD5
Isolated Hair Shaft Abnormality ISL150
Isolated Hereditary Giant Platelet Disorder ISL138
Isolated Inherited Retinal Disorder ISL148
Isolated Iridoschisis ISL126
Isolated Klippel-Feil Syndrome ISL096
Isolated Levocardia ISL072
Isolated Lissencephaly Type 1 Without Known Genetic Defects ISL056
Isolated Macular Dystrophy ISL145
Isolated Megalencephaly ISL034
Isolated Megalopapilla ISL132
Isolated Melanotic Schwannoma ISL159
Isolated Mesenteric Vein Thrombosis ISL157
Isolated Methylmalonic Acidemia ISL099
Isolated Microphthalmia ISL020
Isolated Microspherophakia ISL128
Isolated Nail Anomaly ISL149
Isolated Neonatal Sclerosing Cholangitis ISL110
Isolated Optic Neuritis ISL119 ION
Isolated Optic Neuritis Without Anti-Mog Antibodies ISL158
Isolated Oxidative Phosphorylation Complex Disorder ISL137
Isolated Oxycephaly ISL087
Isolated Partial Cerebellar Vermis Agenesis ISL051
Isolated Partial Vaginal Agenesis ISL068
Isolated Pierre Robin Sequence ISL075
Isolated Plagiocephaly ISL062
Isolated Progressive Inherited Retinal Disorder ISL143
Isolated Pulmonary Capillaritis ISL036
Isolated Punctate Palmoplantar Keratoderma ISL136
Isolated Scaphocephaly ISL089
Isolated Splenic Vein Thrombosis ISL156
Isolated Splenogonadal Fusion ISL108 SGF
Isolated Split Hand-Split Foot Malformation ISL121 SHFM
Isolated Stationary Inherited Retinal Disorder ISL147
Isolated Sternocostoclavicular Hyperostosis ISL026
Isolated Total Cerebellar Vermis Agenesis ISL052
Isolated Tracheoesophageal Fistula ISL118
Isolated Trigonocephaly ISL084
Isolated Unilateral Hemispheric Cerebellar Hypoplasia ISL047
Isolated Vitreoretinopathy ISL144
Isoniazide Allergy ISN002
Isoproterenol-Mediated Vasodilatation ISP002
Isotretinoin Embryopathy-Like Syndrome IST007
Isotretinoin Syndrome IST006
Isovaleric Acid, Inability to Smell ISV002
Isovaleric Acidemia ISV001 IVA
Israeli Tick Typhus ISR001
Isthmus Cancer IST001
Itch E3 Ubiquitin Ligase Deficiency ITC001
Ivic Syndrome IVC001 OORS
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