Disease Name Symbol Acronym
Ichthyosis ICH004
Ichthyosis Bullosa of Siemens ICH002 IBS
Ichthyosis Follicularis Atrichia Photophobia Syndrome ICH011
Ichthyosis Histrix, Curth-Macklin Type ICH046 IHCM
Ichthyosis Lamellar 1 ICH014 LI1
Ichthyosis Linearis Circumflexa ICH018
Ichthyosis Prematurity Syndrome ICH020 IPS
Ichthyosis Vulgaris ICH001 VI
Ichthyosis with Confetti ICH031 CRIE
Ichthyosis, Autosomal Recessive 4b ICH041 ARCI4B
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 2 ICH049 ARCI2
Ichthyosis, Congenital, Autosomal Recessive 3 ICH038 ARCI3
Ichthyosis, Congenital, Autosomal Recessive 4a ICH040 ARCI4A
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, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis ICH026 NISCH
Ichthyosis, Spastic Quadriplegia, and Mental Retardation ICH043 ISQMR
Ichthyosis, Spastic Qudraplegia and Mental Retardation ICH057 ISQMR
Ichthyosis, X-Linked ICH054 IXL
Icos-Related Common Variable Immune Deficiency ICS002 CVID1
Ideomotor Apraxia IDM001
Idh3b-Related Retinitis Pigmentosa IDH001 RP46
Idiopathic Achalasia IDP035
Idiopathic Acute Transverse Myelitis IDP038
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 Corneal Edema IDP006
Idiopathic Edema IDP033
Idiopathic Eosinophilic Myositis IDP040
Idiopathic Generalized Epilepsy IDP010
Idiopathic Hypercalciuria IDP073
Idiopathic Hypersomnia IDP031
Idiopathic Inflammatory Myopathy IDP024 IIM
Idiopathic Interstitial Pneumonia IDP011 IPF
Idiopathic Juvenile Osteoporosis IDP002 IJO
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, Non Brugada Type IDP082
Ifap Syndrome with or Without Bresheck Syndrome IFP001 IFAPS
Ifih1-Related Aicardi-Goutieres Syndrome IFH001
Ifitm5-Related Osteogenesis Imperfecta IFT001
Ifnl3-Related Altered Drug Metabolism IFN001
Ift27-Related Bardet-Biedl Syndrome IFT002 BBS19
Iga Glomerulonephritis IGG001 IGAN
Iga Nephropathy 1 IGN003 IGAN
Iga Nephropathy 2 IGN002
Iga Nephropathy 3 IGN004 IGAN3
Igg4-Related Disease IGG007
Igg4-Related Sclerosing Cholangitis IGG014
Igh-Related Multiple Myeloma IGH002
Il21r-Related Immunodeficiency IL2001
Ileitis ILT001
Ileocolitis ILC002
Ileum Cancer ILM001
Image Syndrome IMG001 IMAGE
Iminoglycinuria, Digenic IMN002 IG
Immature Cataract IMM002
Immature Teratoma of Ovary IMM005
Immune Defect Due to Absence of Thymus IMM015
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome IMM027 XLAAD
Immune Hydrops Fetalis IMM039 IHF
Immune System Disease IMM136
Immune System Organ Benign Neoplasm IMM006
Immune-Complex Glomerulonephritis IMM001
Immunodeficiency 10 IMM065 IMD10
Immunodeficiency 11 IMM062 IMD11
Immunodeficiency 12 IMM071 IMD12
Immunodeficiency 13 IMM070 IMD13
Immunodeficiency 14 IMM102 APDS
Immunodeficiency 15 IMM063 IMD15
Immunodeficiency 16 IMM074 IMD16
Immunodeficiency 17, Cd3 Gamma Deficient IMM084 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, with or Without Neurologic Abnormalities IMM121 IMD26
Immunodeficiency 27a, Mycobacteriosis, Ar IMM090 IMD27A
Immunodeficiency 27b, Mycobacteriosis, Ad IMM091 IMD27B
Immunodeficiency 28, Mycobacteriosis IMM097 IMD28
Immunodeficiency 29, Mycobacteriosis IMM089 IMD29
Immunodeficiency 30 IMM096 IMD30
Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant IMM086 IMD31A
Immunodeficiency 31b, Mycobacterial and Viral Infections, Autosomal Recessive IMM087 IMD31B
Immunodeficiency 31c, Autosomal Dominant IMM107 IMD31C
Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant IMM093 IMD32A
Immunodeficiency 32b IMM138
Immunodeficiency 32b, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive IMM094 IMD32B
Immunodeficiency 33 IMM099 IMD33
Immunodeficiency 34, Mycobacteriosis, X-Linked IMM098 IMD34
Immunodeficiency 35 IMM095 IMD35
Immunodeficiency 36 IMM088 IMD36
Immunodeficiency 37 IMM103 IMD37
Immunodeficiency 38 IMM101 IMD38
Immunodeficiency 39 IMM123 IMD39
Immunodeficiency 40 IMM120 IMD40
Immunodeficiency 41 with Lymphoproliferation and Autoimmunity IMM122 IMD41
Immunodeficiency 42 IMM118 IMD42
Immunodeficiency 46 IMM135 IMD46
Immunodeficiency 47 IMM140 IMD47
Immunodeficiency 49 IMM141 IMD49
Immunodeficiency 50 IMM142 IMD50
Immunodeficiency 7, Tcr-Alpha/beta Deficient IMM067 IMD7
Immunodeficiency 8 IMM068 IMD8
Immunodeficiency 9 IMM066 IMD9
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 Cd3-Gamma IMM008
Immunodeficiency Due to Defect in Mapbp-Interacting Protein IMM029 ID-MAPBPIP
Immunodeficiency Due to Ficolin 3 Deficiency IMM057 FCN3D
Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency IMM033 PNPD
Immunodeficiency with Hyper Igm, Type 5 IMM109 HIGM5
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-Centromeric Instability-Facial Anomalies Syndrome 1 IMM072 ICF1
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 IMM133 ICF3
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome-2 IMM061 ICF2
Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome IMM013
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, 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, Isolated IMM036 NEMOID
Immunodeficiency, Primary, Autosomal Recessive, Il21r-Related IMM069 IL21RID
Immunodeficiency, X-Linked, with Hyper-Igm IMM111 HIGM1
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia IMM110 XMEN
Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked IMM106 IPEX
Immunoglobulin a Deficiency 2 IMM025 IGAD2
Immunoglobulin Alpha Deficiency IMM003
Immunoglobulin G Deficiency IMM044
Immunotactoid Glomerulopathy IMM053
Impaired Renal Function Disease IMP003
Impdh1-Related Leber Congenital Amaurosis IMP009
Impdh1-Related Retinitis Pigmentosa IMP010 RP10
Imperforate Anus IMP002
Impetigo IMP004
Impetigo Herpetiformis IMP001
Impg2-Related Retinitis Pigmentosa IMP011 RP56
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 IBMPFD1
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 INC015 IBMPFD2
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 IBMPFD3
Inclusion Body Myopathy, Autosomal Recessive INC009
Inclusion Body Myositis INC002 IBM
Inclusion Conjunctivitis INC003
Inclusion-Cell Disease INC022 ICD
Incontinentia Pigmenti INC021 IP
Indeterminate Cell Histiocytosis IND009
Indeterminate Leprosy IND004
Indian Tick Typhus IND001
Indolent Myeloma IND003
Indolent Systemic Mastocytosis IND002 ISM
Infancy Electroclinical Syndrome INF033
Infant Botulism INF006
Infantile Apnea INF043 AOI
Infantile Cerebellar-Retinal Degeneration INF129 ICRD
Infantile Digital Fibromatosis INF046 IDF
Infantile Epileptic Encephalopathy INF016
Infantile Free Sialic Acid Storage Disease INF047 ISSD
Infantile Glycine Encephalopathy INF126
Infantile Histiocytoid Cardiomyopathy INF048 CMIH
Infantile Hypotonia INF065
Infantile Krabbe Disease INF122
Infantile Liver Failure Syndrome 1 INF145 ILFS1
Infantile Liver Failure Syndrome 2 INF138 ILFS2
Infantile Myofibromatosis INF049
Infantile Myopathy and Lactic Acidosis INF061
Infantile Neuroaxonal Dystrophy 1 INF069 NBIA2A
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 IAHSP
Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression INF141
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease INF148 IMNEPD
Infection-Induced Acute Encephalopathy 3, Susceptibility INF156 ANE1
Infection-Induced Acute Encephalopathy 4, Susceptibility INF157 IIAE4
Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovasuclar Malformations INF137 IEHDCM
Infectious Anterior Uveitis INF019
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 INF037
Inflammatory Bowel Disease 1 INF071 IBD1
Inflammatory Bowel Disease 10 INF067 IBD10
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, Protection Against INF096 IBD17
Inflammatory Bowel Disease 18 INF076 IBD18
Inflammatory Bowel Disease 19 INF077 IBD19
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, Early Onset, Autosomal Recessive INF095 IBD25
Inflammatory Bowel Disease 26 INF084 IBD26
Inflammatory Bowel Disease 27 INF085 IBD27
Inflammatory Bowel Disease 28, Early Onset, Autosomal Recessive INF094 IBD28
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 Breast Carcinoma INF023
Inflammatory Diarrhea INF002
Inflammatory Leiomyosarcoma INF031
Inflammatory Linear Verrucous Epidermal Nevus INF057 ILVEN
Inflammatory Liposarcoma INF018
Inflammatory Mfh INF026
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
Influenza INF038 FLU
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 BMFS
Inherited Congenital Spastic Tetraplegia INH017
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency INH021
Inherited Metabolic Disorder INH020
Inhibited Female Orgasm INH003
Inhibited Male Orgasm INH002
Inner Ear Disease INN002
Inosine Triphosphate Pyrophosphohydrolase Deficiency INS021 ITPAD
Inpp5e-Related Joubert Syndrome INP002
Ins-Related Permanent Neonatal Diabetes Mellitus INS012
Insensitivity to Pain, Congenital, with Anhidrosis INS023 CIPA
Insomnia, Fatal Familial INS025 FFI
Insr-Related Hyperinsulinism INS026 HHF5
Insulin Autoimmune Syndrome INS006
Insulin-Like Growth Factor I INS024 IGF1RES
Insulin-Resistant Acanthosis Nigricans, Type a INS010
Insulinoma INS001
Integumentary System Benign Neoplasm INT282
Integumentary System Cancer INT283
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis INT310 IDDDFP
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin INT309 IDPFH
Intellectual Disability INT063
Intellectual Disability and/or Autism Spectrum Disorder, Ash1l-Related INT306
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation INT307
Intellectual Disability-Developmental Delay-Contractures Syndrome INT277 WWS
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome INT308
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
Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity INT273 MEHMO
Interatrial Communication INT276 ASD
Interdigitating Dendritic Cell Sarcoma INT038
Interferon Gamma, Receptor 1, Deficiency INT093
Interleukin 1 Receptor Antagonist Deficiency INT259 DIRA
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 IC
Interstitial Emphysema INT011
Interstitial Keratitis INT065
Interstitial Lung and Liver Disease INT271 ILLD
Interstitial Lung Disease INT066 ILD
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 RBILD
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 Impaction INT050
Intestinal Obstruction INT070
Intestinal Perforation INT071
Intestinal Pseudo-Obstruction INT072 IPO
Intestinal Pseudoobstruction, Neuronal INT111 IPOX
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 IIH
Intracranial Hypotension INT003
Intracranial Primitive Neuroectodermal Tumor INT022
Intracranial Sinus Thrombosis INT076
Intracranial Structure Hemangioma INT077
Intracranial Thrombosis INT078
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 ICP
Intramuscular Hemangioma INT013
Intraneural Perineurioma INT004
Intranuclear Rod Myopathy INT109
Intraocular Lymphoma INT054 PIOL
Intraocular Retinoblastoma INT082
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
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 IFD
Intussusception INT051
Invasive Aspergillosis INV001
Invasive Bladder Transitional Cell Carcinoma INV004
Invasive Malignant Thymoma INV003
Invasive Mole INV018
Invasive Pneumococcal Disease, Recurrent Isolated, 1 INV008 IPD1
Invasive Pneumococcal Disease, Recurrent Isolated, 2 INV007 IPD2
Inverted Follicular Keratosis INV005
Inverted Papilloma INV006
Inverted Transitional Papilloma INV002
Iodine Hypothyroidism IDN001
Ipex Syndrome IPX001 XPID
Iqcb1-Related Leber Congenital Amaurosis IQC001
Irak4 Deficiency IRK001 IRAK4D
Irf6-Related Disorders IRF001
Iridocorneal Endothelial Syndrome IRD003
Iridocyclitis IRD001
Iridogoniodysgenesis, Type 1 IRD007 ASGD3
Iridogoniodysgenesis, Type 2 IRD008 ASGD4
Irinotecan Toxicity IRN007
Iris Disease IRS003
Iris Hypoplasia IRS007
Iritis IRT001
Iron Deficiency Anemia IRN001
Iron Metabolism Disease IRN002 IRON
Iron Overload in Africa IRN008
Iron-Refractory Iron Deficiency Anemia IRN004 IRIDA
Irregular Astigmatism IRR001
Irritable Bowel Syndrome IRR002 IBD
Irritant Dermatitis IRR003
Ischemia ISC004
Ischemic Bone Disease ISC005
Ischemic Colitis ISC015
Ischemic Fasciitis ISC003
Ischemic Heart Disease ISC006 IHD
Ischemic Neuropathy ISC001
Ischemic Optic Neuropathy ISC002
Ischemic Retinopathy ISC009
Ischio-Vertebral Syndrome ISC011
Islet Cell Tumor ISL001
Isobutyryl-Coa Dehydrogenase Deficiency ISB001 IBDD
Isolated 17-Linked Lissencephaly ISL010 ILS
Isolated Aniridia ISL011
Isolated Atp Synthase Deficiency ISL082
Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type ISL027
Isolated Bone Marrow Mastocytosis ISL032
Isolated Brachycephaly ISL061
Isolated Cleft Lip ISL109
Isolated Congenital Breast Hypoplasia/aplasia ISL100
Isolated Congenital Megalocornea ISL067 MGC1
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 IGHD
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 H-CK
Isolated Klippel-Feil Syndrome ISL096
Isolated Megalencephaly ISL034
Isolated Methylmalonic Acidemia ISL099
Isolated Micropenis ISL069
Isolated Microphthalmia ISL020 MCOP
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 IVA
Ispd-Related Muscle Diseases ISP001
Israeli Tick Typhus ISR001
Itch E3 Ubiquitin Ligase Deficiency ITC001
Itga6-Related Epidermolysis Bullosa with Pyloric Atresia ITG001
Itgam-Related Susceptibility to Systemic Lupus Erythematosus ITG003 SLEB6
Itgb4-Related Epidermolysis Bullosa with Pyloric Atresia ITG002
Itpa-Related Altered Drug Metabolism ITP001
Itpa-Related Encephalopathy ITP002
Ivic Syndrome IVC001 OORS
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