Disease Name Symbol Acronym
Ichthyosis ICH004
Ichthyosis Bullosa of Siemens ICH002 IBS
Ichthyosis Follicularis Atrichia Photophobia Syndrome ICH011
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome ICH062
Ichthyosis Hystrix, Curth-Macklin Type ICH073 IHCM
Ichthyosis Linearis Circumflexa ICH018
Ichthyosis Prematurity Syndrome ICH020 IPS
Ichthyosis Vulgaris ICH001 VI
Ichthyosis with Confetti ICH031 IWC
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, Hystrix-Like, with Deafness ICH035 HID SYNDROME
Ichthyosis, Lamellar, Autosomal Dominant ICH074 ADLI
Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis ICH026 ILVASC
Ichthyosis, Spastic Quadriplegia, and Mental Retardation ICH043 ISQMR
Ichthyosis, X-Linked ICH054 XLI
Ichthyotic Keratoderma, Spasticity, Hypomyelination, and Dysmorphic Facial Features ICH079 IKSHD
Ideomotor Apraxia IDM001
Idh-Mutant Anaplastic Astrocytoma IDH002
Idh-Wildtype Anaplastic Astrocytoma IDH003
Idh-Wildtype Glioblastoma IDH005
Idiopathic Bronchiectasis IDP074
Idiopathic Cd4-Positive T-Lymphocytopenia IDP001 ICL
Idiopathic Central Precocious Puberty IDP034
Idiopathic Corneal Edema IDP006
Idiopathic Edema IDP033
Idiopathic Hypercalciuria IDP073
Idiopathic Hypersomnia IDP031
Idiopathic Infantile Hypercalcemia IDP085 IIH
Idiopathic Interstitial Pneumonia IDP011 IPF
Idiopathic Nephrotic Syndrome IDP091
Idiopathic Peripheral Autonomic Neuropathy IDP004
Idiopathic Scoliosis IDP070
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 Disease IGG007
Ileitis ILT001
Ileocolitis ILC002
Ileum Cancer ILM001
Ileus ILS001 ILEUS
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 Deficiency Disease IMM167
Immune Dysregulation and Systemic Hyperinflammation Syndrome IMM231 IMDYSHI
Immune Dysregulation with Autoimmunity, Immunodeficiency, and Lymphoproliferation IMM252 IDAIL
Immune Hydrops Fetalis IMM039 IHF
Immune System Disease IMM136
Immune System Organ Benign Neoplasm IMM006
Immune-Complex Glomerulonephritis IMM001
Immunodeficiency 10 IMM065 IMD10
Immunodeficiency 100 with Pulmonary Alveolar Proteinosis and Hypogammaglobulinemia IMM271 IMD100
Immunodeficiency 101 IMM272 IMD101
Immunodeficiency 102 IMM270 IMD102
Immunodeficiency 103 Fungal Infections IMM274 IMD103
Immunodeficiency 104 IMM275 IMD104
Immunodeficiency 105 IMM276 IMD105
Immunodeficiency 106 Viral Infections IMM277 IMD106
Immunodeficiency 107 Invasive Staphylococcus Aureus Infection IMM279 IMD107
Immunodeficiency 108 with Autoinflammation IMM278 IMD108
Immunodeficiency 11 IMM062 IMD11A
Immunodeficiency 11b with Atopic Dermatitis IMM145 IMD11B
Immunodeficiency 12 IMM071 IMD12
Immunodeficiency 13 IMM070 IMD13
Immunodeficiency 14 IMM102 APDS
Immunodeficiency 14a, Autosomal Dominant IMM240 IMD14A
Immunodeficiency 14b, Autosomal Recessive IMM242 IMD14B
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 BRIDA
Immunodeficiency 60 and Autoimmunity IMM253 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 7 IMM257 IMD7
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 77 IMM238 IMD77
Immunodeficiency 78 with Autoimmunity and Developmental Delay IMM237 IMD78
Immunodeficiency 79 IMM239 IMD79
Immunodeficiency 8 IMM068 IMD8
Immunodeficiency 80 with or Without Congenital Cardiomyopathy IMM243 IMD80
Immunodeficiency 81 IMM244 IMD81
Immunodeficiency 82 with Systemic Inflammation IMM245 IMD82
Immunodeficiency 83 Viral Infections IMM249 IMD83
Immunodeficiency 84 IMM250 IMD84
Immunodeficiency 85 and Autoimmunity IMM251 IMD85
Immunodeficiency 86 IMM254 IMD86
Immunodeficiency 87 and Autoimmunity IMM255 IMD87
Immunodeficiency 88 IMM258 IMD88
Immunodeficiency 89 and Autoimmunity IMM259 IMD89
Immunodeficiency 9 IMM066 IMD9
Immunodeficiency 90 with Encephalopathy, Functional Hyposplenia, and Hepatic Dysfunction IMM256 IMD90
Immunodeficiency 91 and Hyperinflammation IMM260 IMD91
Immunodeficiency 92 IMM261 IMD92
Immunodeficiency 93 and Hypertrophic Cardiomyopathy IMM262 IMD93
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies IMM264 IMD94
Immunodeficiency 95 IMM265 IMD95
Immunodeficiency 96 IMM266 IMD96
Immunodeficiency 97 with Autoinflammation IMM267 IMD97
Immunodeficiency 98 with Autoinflammation, X-Linked IMM263 IMD98
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias IMM268 IMD99
Immunodeficiency by Defective Expression of Mhc Class I IMM212
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 ID-MAPBPIP
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 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, with Autoimmunity IMM241 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, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia IMM026 XMEN
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
Immunoglobulin a Deficiency 1 IMM154 IGAD1
Immunoglobulin a Deficiency 2 IMM025 IGAD2
Immunoglobulin Alpha Deficiency IMM003
Immunoglobulin E Concentration, Serum IMM162 IGES
Immunoglobulin G Deficiency IMM044
Immunoglobulin Heavy Chain Amyloidosis IMM247
Immunoglobulin Heavy-and-Light Chain IMM248
Immunoglobulin Kappa Light Chain Deficiency IMM100 IGKCD
Immunoglobulin Light Chain Amyloidosis IMM246
Immunoneurologic Disorder, X-Linked IMM130
Immuno-Osseous Dysplasia IMM204
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities IMM146 ISDNA
Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects IMP020 MRFACD
Impdh2 Enzyme Activity, Variation in IMP012 IMPDH2V
Impetigo IMP004
Impetigo Herpetiformis IMP001
Impotence IMP005
Impulse Control Disorder IMP006
in Situ Carcinoma INS002
Inappropriate Adh Syndrome INP001 SIADH
Inclusion Body Myopathy and Brain White Matter Abnormalities INC037 IBMWMA
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 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
Incontinentia Pigmenti INC021 IP
Increased Analgesia from Kappa-Opioid Receptor Agonist, Female-Specific INC030
Indeterminate Leprosy IND004
Indian Tick Typhus IND001
Indifference to Pain, Congenital, Autosomal Recessive IND012 CIP
Indolent Plasma Cell Myeloma IND017
Indolent Systemic Mastocytosis IND002 ISM
Infancy Electroclinical Syndrome INF033
Infant Botulism INF006
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development INF174 CASGID
Infantile Cerebellar-Retinal Degeneration INF129 ICRD
Infantile Epilepsy Syndrome INF185
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 Myofibromatosis INF049
Infantile Nephronophthisis INF147
Infantile Osteopetrosis with Neuroaxonal Dysplasia INF132
Infantile Sialic Acid Storage Disease INF159 ISSD
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome INF171
Infantile-Onset Mesial Temporal Lobe Epilepsy with Severe Cognitive Regression INF141
Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia INF192
Infected Hydrocele INF025
Infectious Anterior Uveitis INF019
Infective Endocarditis INF034
Inferior Myocardial Infarction INF013
Inferolateral Myocardial Infarct INF012
Infertility INF032
Infertility Due to Extratesticular Cause INF020
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 19 INF077 IBD19
Inflammatory Bowel Disease 30 INF193 IBD30
Inflammatory Bowel Disease 31, Autosomal Recessive INF195 IBD31
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 Liposarcoma INF018
Inflammatory Myofibroblastic Tumor INF058
Inflammatory Skin and Bowel Disease, Neonatal, 1 INF144 NISBD1
Inflammatory Skin and Bowel Disease, Neonatal, 2 INF146 NISBD2
Inflammatory Spondylopathy INF009
Influenza INF038 FLU
Influenza, Severe INF136
Infratentorial Cancer INF039
Inguinal Hernia ING001
Inhalation Anthrax INH001
Inherited Bone Marrow Failure Syndromes INH011 BMFS
Inherited Cancer-Predisposing Syndrome INH023
Inherited Congenital Spastic Tetraplegia INH017
Inherited Human Prion Disease INH032
Inherited Isolated Adrenal Insufficiency Due to Partial Cyp11a1 Deficiency INH021
Inherited Metabolic Disorder INH020
Inherited Retinal Disorder INH030
Inhibited Female Orgasm INH003
Inhibited Male Orgasm INH002
Inner Ear Cancer INN001
Inner Ear Disease INN002
Inosine Triphosphatase Deficiency INS015 ITPAD
Insensitivity to Pain, Congenital, with Anhidrosis INS023 CIPA
Insulin-Like Growth Factor I INS024 IGF1RES
Insulinoma INS001
Insulinoma Tumor Suppressor Gene Locus INS032
Insulinomatosis and Diabetes Mellitus INS034 INSDM
Integrative Agnosia INT031
Integumentary System Disease INT379
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 Dysmorphic Facies INT581 IDDADF
Intellectual Developmental Disorder with Autism and Macrocephaly INT571 IDDAM
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 Hypotonia, Impaired Speech, and Dysmorphic Facies INT456 IDDHISD
Intellectual Developmental Disorder with Impaired Language and Dysmorphic Facies INT363 IDDILF
Intellectual Developmental Disorder with Language Impairment and Early-Onset Dopa-Responsive Dystonia-Parkinsonism INT574 IDLDP
Intellectual Developmental Disorder with Language Impairment and with or Without Autistic Features INT570 MRLIAF
Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay INT331 IDDMSSD
Intellectual Developmental Disorder with Microcephaly and Pontine and Cerebellar Hypoplasia INT422 MICPCH
Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects INT580 IDDMDS
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 Ocular Anomalies and Distinctive Facial Features INT583 IDDOF
Intellectual Developmental Disorder with or Without Epilepsy or Cerebellar Ataxia INT327 IDDECA
Intellectual Developmental Disorder with or Without Peripheral Neuropathy INT569 IDDPN
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 1 INT483 MRD1
Intellectual Developmental Disorder, Autosomal Dominant 10 INT523 MRD10
Intellectual Developmental Disorder, Autosomal Dominant 13 INT533 MRD13
Intellectual Developmental Disorder, Autosomal Dominant 2 INT521 MRD2
Intellectual Developmental Disorder, Autosomal Dominant 21 INT536 MRD21
Intellectual Developmental Disorder, Autosomal Dominant 22 INT513 MRD22
Intellectual Developmental Disorder, Autosomal Dominant 23 INT538 MRD23
Intellectual Developmental Disorder, Autosomal Dominant 26 INT539 MRD26
Intellectual Developmental Disorder, Autosomal Dominant 29 INT542 MRD29
Intellectual Developmental Disorder, Autosomal Dominant 3 INT514 MRD3
Intellectual Developmental Disorder, Autosomal Dominant 30, with Speech Delay and Behavioral Abnormalities INT578 MRD30
Intellectual Developmental Disorder, Autosomal Dominant 33 INT546 MRD33
Intellectual Developmental Disorder, Autosomal Dominant 34 INT462 MRD34
Intellectual Developmental Disorder, Autosomal Dominant 35 INT547 MRD35
Intellectual Developmental Disorder, Autosomal Dominant 36 INT548 MRD36
Intellectual Developmental Disorder, Autosomal Dominant 38 INT549 MRD38
Intellectual Developmental Disorder, Autosomal Dominant 39 INT475 MRD39
Intellectual Developmental Disorder, Autosomal Dominant 4 INT515 MRD4
Intellectual Developmental Disorder, Autosomal Dominant 41 INT550 MRD41
Intellectual Developmental Disorder, Autosomal Dominant 42 INT453 MRD42
Intellectual Developmental Disorder, Autosomal Dominant 43 INT551 MRD43
Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly INT373 MRD44
Intellectual Developmental Disorder, Autosomal Dominant 45 INT554 MRD45
Intellectual Developmental Disorder, Autosomal Dominant 46 INT555 MRD46
Intellectual Developmental Disorder, Autosomal Dominant 47 INT556 MRD47
Intellectual Developmental Disorder, Autosomal Dominant 48 INT557 MRD48
Intellectual Developmental Disorder, Autosomal Dominant 5 INT516 MRD5
Intellectual Developmental Disorder, Autosomal Dominant 50, with Behavioral Abnormalities INT402 MRD50
Intellectual Developmental Disorder, Autosomal Dominant 51 INT559 MRD51
Intellectual Developmental Disorder, Autosomal Dominant 52 INT560 MRD52
Intellectual Developmental Disorder, Autosomal Dominant 53 INT561 MRD53
Intellectual Developmental Disorder, Autosomal Dominant 54 INT562 MRD54
Intellectual Developmental Disorder, Autosomal Dominant 55, with Seizures INT454 MRD55
Intellectual Developmental Disorder, Autosomal Dominant 56 INT455 MRD56
Intellectual Developmental Disorder, Autosomal Dominant 57 INT563 MRD57
Intellectual Developmental Disorder, Autosomal Dominant 58 INT566 MRD58
Intellectual Developmental Disorder, Autosomal Dominant 59 INT386 MRD59
Intellectual Developmental Disorder, Autosomal Dominant 6, with or Without Seizures INT518 MRD6
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 Dominant 65 INT400 MRD65
Intellectual Developmental Disorder, Autosomal Dominant 66 INT573 MRD66
Intellectual Developmental Disorder, Autosomal Dominant 67 INT575 MRD67
Intellectual Developmental Disorder, Autosomal Dominant 68 INT577 MRD68
Intellectual Developmental Disorder, Autosomal Dominant 69 INT572 MRD69
Intellectual Developmental Disorder, Autosomal Dominant 7 INT520 MRD7
Intellectual Developmental Disorder, Autosomal Recessive 1 INT484 MRT1
Intellectual Developmental Disorder, Autosomal Recessive 10 INT510 MRT10
Intellectual Developmental Disorder, Autosomal Recessive 11 INT511 MRT11
Intellectual Developmental Disorder, Autosomal Recessive 12 INT398 MRT12
Intellectual Developmental Disorder, Autosomal Recessive 13 INT517 MRT13
Intellectual Developmental Disorder, Autosomal Recessive 14 INT519 MRT14
Intellectual Developmental Disorder, Autosomal Recessive 16 INT522 MRT16
Intellectual Developmental Disorder, Autosomal Recessive 18, with or Without Epilepsy INT458 MRT18
Intellectual Developmental Disorder, Autosomal Recessive 19 INT528 MRT19
Intellectual Developmental Disorder, Autosomal Recessive 2 INT505 MRT2
Intellectual Developmental Disorder, Autosomal Recessive 23 INT529 MRT23
Intellectual Developmental Disorder, Autosomal Recessive 24 INT530 MRT24
Intellectual Developmental Disorder, Autosomal Recessive 25 INT531 MRT25
Intellectual Developmental Disorder, Autosomal Recessive 27 INT471 MRT27
Intellectual Developmental Disorder, Autosomal Recessive 28 INT532 MRT28
Intellectual Developmental Disorder, Autosomal Recessive 29 INT525 MRT29
Intellectual Developmental Disorder, Autosomal Recessive 3 INT506 MRT3
Intellectual Developmental Disorder, Autosomal Recessive 30 INT527 MRT30
Intellectual Developmental Disorder, Autosomal Recessive 31 INT524 MRT31
Intellectual Developmental Disorder, Autosomal Recessive 33 INT526 MRT33
Intellectual Developmental Disorder, Autosomal Recessive 34, with Variant Lissencephaly INT459 MRT34
Intellectual Developmental Disorder, Autosomal Recessive 35 INT534 MRT35
Intellectual Developmental Disorder, Autosomal Recessive 37 INT535 MRT37
Intellectual Developmental Disorder, Autosomal Recessive 38 INT460 MRT38
Intellectual Developmental Disorder, Autosomal Recessive 39 INT472 MRT39
Intellectual Developmental Disorder, Autosomal Recessive 4 INT512 MRT4
Intellectual Developmental Disorder, Autosomal Recessive 41 INT537 MRT41
Intellectual Developmental Disorder, Autosomal Recessive 43 INT474 MRT43
Intellectual Developmental Disorder, Autosomal Recessive 44 INT540 MRT44
Intellectual Developmental Disorder, Autosomal Recessive 45 INT541 MRT45
Intellectual Developmental Disorder, Autosomal Recessive 46 INT544 MRT46
Intellectual Developmental Disorder, Autosomal Recessive 47 INT461 MRT47
Intellectual Developmental Disorder, Autosomal Recessive 48 INT545 MRT48
Intellectual Developmental Disorder, Autosomal Recessive 5 INT507 MRT5
Intellectual Developmental Disorder, Autosomal Recessive 50 INT463 MRT50
Intellectual Developmental Disorder, Autosomal Recessive 51 INT464 MRT51
Intellectual Developmental Disorder, Autosomal Recessive 52 INT465 MRT52
Intellectual Developmental Disorder, Autosomal Recessive 54 INT466 MRT54
Intellectual Developmental Disorder, Autosomal Recessive 56 INT467 MRT56
Intellectual Developmental Disorder, Autosomal Recessive 57 INT478 MRT57
Intellectual Developmental Disorder, Autosomal Recessive 58 INT479 MRT58
Intellectual Developmental Disorder, Autosomal Recessive 59 INT552 MRT59
Intellectual Developmental Disorder, Autosomal Recessive 6 INT452 MRT6
Intellectual Developmental Disorder, Autosomal Recessive 60 INT553 MRT60
Intellectual Developmental Disorder, Autosomal Recessive 61 INT558 MRT61
Intellectual Developmental Disorder, Autosomal Recessive 63 INT564 MRT63
Intellectual Developmental Disorder, Autosomal Recessive 64 INT565 MRT64
Intellectual Developmental Disorder, Autosomal Recessive 65 INT567 MRT65
Intellectual Developmental Disorder, Autosomal Recessive 66 INT468 MRT66
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 7 INT508 MRT7
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, Autosomal Recessive 73 INT480 MRT73
Intellectual Developmental Disorder, Autosomal Recessive 74 INT477 MRT74
Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly INT568 MRT75
Intellectual Developmental Disorder, Autosomal Recessive 76 INT576 MRT76
Intellectual Developmental Disorder, Autosomal Recessive 77 INT579 MRT77
Intellectual Developmental Disorder, Autosomal Recessive 9 INT509 MRT9
Intellectual Developmental Disorder, Fra12a Type INT482 IDDFR12A
Intellectual Developmental Disorder, X-Linked 1 INT446 XLID1
Intellectual Developmental Disorder, X-Linked 100 INT432 XLID100
Intellectual Developmental Disorder, X-Linked 101 INT433 XLID101
Intellectual Developmental Disorder, X-Linked 103 INT438 XLID103
Intellectual Developmental Disorder, X-Linked 104 INT439 XLID104
Intellectual Developmental Disorder, X-Linked 105 INT440 XLID105
Intellectual Developmental Disorder, X-Linked 106 INT442 XLID106
Intellectual Developmental Disorder, X-Linked 107 INT445 XLID107
Intellectual Developmental Disorder, X-Linked 108 INT342 MRX108
Intellectual Developmental Disorder, X-Linked 109 INT399 XLID109
Intellectual Developmental Disorder, X-Linked 12 INT434 XLID12
Intellectual Developmental Disorder, X-Linked 14 INT487 XLID14
Intellectual Developmental Disorder, X-Linked 19 INT425 XLID19
Intellectual Developmental Disorder, X-Linked 2 INT492 XLID2
Intellectual Developmental Disorder, X-Linked 20 INT486 XLID20
Intellectual Developmental Disorder, X-Linked 21 INT403 XLID21
Intellectual Developmental Disorder, X-Linked 23 INT485 XLID23
Intellectual Developmental Disorder, X-Linked 29 INT414 XLID29
Intellectual Developmental Disorder, X-Linked 30 INT419 XLID30
Intellectual Developmental Disorder, X-Linked 41 INT426 XLID41
Intellectual Developmental Disorder, X-Linked 42 INT491 XLID42
Intellectual Developmental Disorder, X-Linked 45 INT496 XLID45
Intellectual Developmental Disorder, X-Linked 46 INT494 XLID46
Intellectual Developmental Disorder, X-Linked 50 INT397 XLID50
Intellectual Developmental Disorder, X-Linked 53 INT489 XLID53
Intellectual Developmental Disorder, X-Linked 58 INT406 XLID58
Intellectual Developmental Disorder, X-Linked 63 INT413 XLID63
Intellectual Developmental Disorder, X-Linked 72 INT411 XLID72
Intellectual Developmental Disorder, X-Linked 73 INT490 XLID73
Intellectual Developmental Disorder, X-Linked 77 INT495 XLID77
Intellectual Developmental Disorder, X-Linked 81 INT493 XLID81
Intellectual Developmental Disorder, X-Linked 84 INT497 XLID84
Intellectual Developmental Disorder, X-Linked 9 INT447 XLID9
Intellectual Developmental Disorder, X-Linked 90 INT427 XLID90
Intellectual Developmental Disorder, X-Linked 93 INT420 XLID93
Intellectual Developmental Disorder, X-Linked 95 INT499 XLID95
Intellectual Developmental Disorder, X-Linked 96 INT423 XLID96
Intellectual Developmental Disorder, X-Linked 97 INT424 XLID97
Intellectual Developmental Disorder, X-Linked 98 INT430 XLID98
Intellectual Developmental Disorder, X-Linked 99 INT431 XLID99
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted INT437 MRXS99F
Intellectual Developmental Disorder, X-Linked, Syndromic 11 INT407 MRXS11
Intellectual Developmental Disorder, X-Linked, Syndromic 12 INT503 MRXS12
Intellectual Developmental Disorder, X-Linked, Syndromic 13 INT404 MRXS13
Intellectual Developmental Disorder, X-Linked, Syndromic 14 INT421 MRXS14
Intellectual Developmental Disorder, X-Linked, Syndromic 17 INT500 MRXS17
Intellectual Developmental Disorder, X-Linked, Syndromic 32 INT429 MRXS32
Intellectual Developmental Disorder, X-Linked, Syndromic 33 INT435 MRXS33
Intellectual Developmental Disorder, X-Linked, Syndromic 34 INT436 MRXS34
Intellectual Developmental Disorder, X-Linked, Syndromic 7 INT470 MRXS7
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 INT443 MRXS35
Intellectual Developmental Disorder, X-Linked, Syndromic, Abidi Type INT488 MRXSAB
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type INT383 MRXSA
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type INT441 MRXSB
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type INT417 MRXSBL
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type INT412 MRXSC
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type INT408 MRXSCH
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type INT501 MRXSCS
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type INT418 MRXSCJ
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type INT371 MRXSHD
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type INT415 MRXSH
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type INT444 MRXSHG
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type INT409 MRXSL
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type INT372 MRXSLF
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type INT428 MRXSN
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type INT502 MRXSP
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type INT369 MRXSR
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type INT410 MRXSSD
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type INT370 MRXSSB
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type INT448 MRXSSR
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type INT416 SDSX
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type INT450 MRXST
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type INT449 WTS
Intellectual Developmental Disorder, X-Linked, Syndromic, with Pigmentary Mosaicism and Coarse Facies INT451 MRXSPF
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type INT384 MRXSW
Intellectual Developmental Disorder, X-Linked, with Panhypopituitarism INT405 MRXGH
Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag INT232
Intellectual Disability and Myopathy Syndrome INT481 IDMYS
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation INT307
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome INT300
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome INT228
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 INT504 MRXHF1
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome INT298
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome INT270
Intelligence Quantitative Trait Locus 1 INT320
Intelligence Quantitative Trait Locus 2 INT321
Intelligence Quantitative Trait Locus 3 INT322
Interatrial Communication INT276 ASD
Interdigitating Dendritic Cell Sarcoma INT038
Interferon Gamma, Receptor 1, Deficiency INT093
Interleukin 6, Serum Level of, Quantitative Trait Locus INT325
Interleukin-7 Receptor Alpha Deficiency INT029
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 IU
Intermittent Asthma INT394
Intermittent Claudication INT002
Intermittent Explosive Disorder INT025
Intermittent Hydrarthrosis INT182
Intermittent Proptosis INT026
Intermittent Squint INT008
Internal Auditory Canal Lipoma INT036
Internal Auditory Canal Meningioma INT027
Internal Hemorrhoid INT059
Internal Hordeolum INT047
Internuclear Ophthalmoplegia INT042
Interstitial Cystitis INT143
Interstitial Keratitis INT065
Interstitial Lung and Liver Disease INT271 ILLD
Interstitial Lung Disease INT066 ILD
Interstitial Lung Disease 1 INT469 ILD1
Interstitial Lung Disease 2 INT457 ILD2
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 Dysmotility Syndrome INT582 IDMTS
Intestinal Impaction INT050
Intestinal Obstruction INT070
Intestinal Perforation INT071
Intestinal Polyposis Syndrome INT358
Intestinal Pseudo-Obstruction INT072 IPO
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked INT319 CSBSX
Intestinal Schistosomiasis INT017
Intestinal Tuberculosis INT046
Intestine Carcinoma in Situ INT019
Intracranial Abscess INT009
Intracranial Arteriosclerosis INT074
Intracranial Berry Aneurysm INT260
Intracranial Cavernous Angioma INT034
Intracranial Chondrosarcoma INT033
Intracranial Embolism INT010
Intracranial Hypertension INT075
Intracranial Hypertension, Idiopathic INT303 IIH
Intracranial Hypotension INT003
Intracranial Meningioma INT395
Intracranial Primitive Neuroectodermal Tumor INT022
Intracranial Sinus Thrombosis INT076
Intracranial Structure Hemangioma INT077
Intracranial Thrombosis INT078
Intracranial Vasospasm INT053
Intracystic Papillary Adenoma INT015
Intraductal Breast Benign Neoplasm INT380
Intraductal Papilloma INT016
Intrahepatic Bile Duct Adenoma INT049
Intrahepatic Biliary Papillomatosis INT039
Intrahepatic Cholangiocarcinoma INT079
Intrahepatic Cholestasis INT001
Intrahepatic Cholestasis of Pregnancy INT099 ICP
Intrahepatic Gall Duct Cancer INT014
Intramuscular Hemangioma INT013
Intraneural Perineurioma INT004
Intraocular Lymphoma INT054 PIOL
Intraocular Pressure Quantitative Trait Locus INT323 IOPQTL
Intraocular Retinoblastoma INT082
Intraorbital Meningioma INT058
Intratubular Embryonal Carcinoma INT041
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome INT279
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
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
Inverted Follicular Keratosis INV005
Inverted Papilloma INV006
Inverted Transitional Papilloma INV002
Iodine Hypothyroidism IDN001
Iqsec2 IQS001
Irf2bpl-Related Regressive Neurodevelopmental Disorder-Dystonia-Seizures Syndrome IRF004
Iridocyclitis IRD001
Iris Disease IRS003
Iris Hypoplasia with Glaucoma IRS009 IHG
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
Irritant Dermatitis IRR003
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
Isolated Anencephaly ISL155
Isolated Aniridia ISL011
Isolated Asymptomatic Elevation of Creatine Phosphokinase ISL053
Isolated Atp Synthase Deficiency ISL082
Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type ISL027
Isolated Bone Marrow Mastocytosis ISL032
Isolated Childhood Apraxia of Speech ISL163
Isolated Cleft Lip ISL109
Isolated Complex Iii Deficiency ISL116
Isolated Congenital Breast Hypoplasia/aplasia ISL100
Isolated Congenital Hypogonadotropic Hypogonadism ISL139
Isolated Congenitally Uncorrected Transposition of the Great Arteries ISL054
Isolated Cytochrome C Oxidase Deficiency ISL083
Isolated Dandy-Walker Malformation with Hydrocephalus ISL050
Isolated Dandy-Walker Malformation Without Hydrocephalus ISL049
Isolated Delta-Storage Pool Disease ISL033
Isolated Dystonia ISL135
Isolated Ectopia Lentis ISL078 IEL
Isolated Elevated Serum Creatine Phosphokinase Levels ISL151 H-CK
Isolated Exencephaly ISL154
Isolated Focal Cortical Dysplasia Type Ia ISL040
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 Klippel-Feil Syndrome ISL096
Isolated Macular Dystrophy ISL145
Isolated Megalencephaly ISL034
Isolated Methylmalonic Acidemia ISL099
Isolated Microphthalmia ISL020
Isolated Nail Anomaly ISL149
Isolated Neonatal Sclerosing Cholangitis ISL110
Isolated Permanent Neonatal Diabetes Mellitus ISL161
Isolated Split Hand-Split Foot Malformation ISL121 SHFM
Isoniazide Allergy ISN002
Isoproterenol-Mediated Vasodilatation ISP002
Isovaleric Acidemia ISV001 IVA
Israeli Tick Typhus ISR001
Isthmus Cancer IST001
Itch E3 Ubiquitin Ligase Deficiency ITC001
Ivic Syndrome IVC001 IVIC
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