Disease Name Symbol Acronym
Eaf EF001
Eagle Syndrome EGL001
Eales Disease ELS001
Ear Antitragus, Tag at Base of ERN001
Ear Exostoses ERX001
Ear Flare ERF002
Ear Folding ERF003
Ear Malformation ERM002
Ear Pits, Posterior Helical ERP001
Ear Without Helix ERW002
Earlobe Attachment, Attached Vs Unattached ERL049
Earlobe Crease ERL050
Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities ERL045
Early Congenital Syphilis ERL002
Early Infantile Epileptic Encephalopathy ERL057
Early Invasive Cervical Adenocarcinoma ERL005
Early Myoclonic Encephalopathy ERL001
Early Onset Absence Epilepsy ERL003
Early Repolarization Associated with Ventricular Fibrillation ERL052
Early Response to Neural Induction Gene ERL051
Early Yaws ERL004
Early-Onset Anterior Polar Cataract ERL039
Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation ERL023
Early-Onset Generalized Limb-Onset Dystonia ERL030
Early-Onset Glaucoma ERL012
Early-Onset Lamellar Cataract ERL037
Early-Onset Non-Syndromic Cataract ERL027
Early-Onset Nuclear Cataract ERL043
Early-Onset Parkinsonism-Intellectual Disability Syndrome ERL033
Early-Onset Parkinson's Disease ERL056
Early-Onset Partial Cataract ERL042
Early-Onset Posterior Subcapsular Cataract ERL036
Early-Onset Progressive Encephalopathy with Migrant Continuous Myoclonus ERL058
Early-Onset Schizophrenia ERL020
Early-Onset Sutural Cataract ERL040
Early-Onset Zonular Cataract ERL041
Early-Onset, Autosomal Dominant Alzheimer Disease ERL029
Earring Holes, Natural ERR001
Ears, Ability to Move ERS003
Eastern Equine Encephalitis EST003
Eating Disorder ETN001
Eating Reflex Epilepsy ETN003
Ebola Hemorrhagic Fever EBL001
Ebstein Anomaly EBS001
Eccentrochondrodysplasia ECC009
Eccrine Acrospiroma ECC002
Eccrine Adenocarcinoma ECC005
Eccrine Mixed Tumor of Skin ECC006
Eccrine Mucinous Carcinoma ECC010
Eccrine Papillary Adenocarcinoma ECC001
Eccrine Papillary Adenoma ECC003
Eccrine Porocarcinoma ECC004
Eccrine Sweat Gland Cancer ECC007
Eccrine Sweat Gland Neoplasm ECC008
Eccrine Syringofibroadenomatosis with Eyelid Abnormalities ECC013
Echinococcosis ECH003
Echinostomiasis ECH001
Echolalia ECH002
Eclampsia ECL001
Ectasia of the Left Atrial Appendage ECT107
Ectasia of the Right Atrial Appendage ECT057
Ecthyma ECT004
Ectodermal Dysplasia ECT006
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked ECT070
Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant ECT061
Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT062
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant ECT072
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive ECT058
Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type ECT094
Ectodermal Dysplasia 13, Hair/tooth Type ECT095
Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis ECT110
Ectodermal Dysplasia 4, Hair/nail Type ECT067
Ectodermal Dysplasia 5, Hair/nail Type ECT064
Ectodermal Dysplasia 6, Hair/nail Type ECT068
Ectodermal Dysplasia 7, Hair/nail Type ECT065
Ectodermal Dysplasia 8, Hair/tooth/nail Type ECT069
Ectodermal Dysplasia 9, Hair/nail Type ECT066
Ectodermal Dysplasia Alopecia Preaxial Polydactyly ECT012
Ectodermal Dysplasia and Immunodeficiency 1 ECT108
Ectodermal Dysplasia and Immunodeficiency 2 ECT109
Ectodermal Dysplasia and Neurosensory Deafness ECT088
Ectodermal Dysplasia Arthrogryposis Diabetes Mellitus ECT013
Ectodermal Dysplasia Bartalos Type ECT014
Ectodermal Dysplasia Berlin Type ECT015
Ectodermal Dysplasia Blindness ECT016
Ectodermal Dysplasia Intellectual Disability Cns Malformation ECT081
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet ECT096
Ectodermal Dysplasia with Adrenal Cyst ECT097
Ectodermal Dysplasia with Mental Retardation and Syndactyly ECT104
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type ECT091
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema ECT103
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome ECT102
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type ECT023
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum ECT090
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia ECT089
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features ECT024
Ectodermal Dysplasia, Trichoodontoonychial Type ECT087
Ectodermal Dysplasia/short Stature Syndrome ECT073
Ectodermal Dysplasia/skin Fragility Syndrome ECT007
Ectodermal Dysplasia-Syndactyly Syndrome 1 ECT045
Ectodermal Dysplasia-Syndactyly Syndrome 2 ECT041
Ectomesenchymoma ECT002
Ectopia Cordis ECT085
Ectopia Lentis 1, Isolated, Autosomal Dominant ECT098
Ectopia Lentis 2, Isolated, Autosomal Recessive ECT101
Ectopia Lentis Et Pupillae ECT033
Ectopia Pupillae ECT009
Ectopic Aldosterone-Producing Tumor ECT055
Ectopic Cushing Syndrome ECT093
Ectopic Pregnancy ECT026
Ectopic Thymus ECT003
Ectothrix Infectious Disease ECT001
Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/palate ECT027
Ectrodactyly Cardiopathy Dysmorphism ECT028
Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia ECT105
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 ECT100
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 ECT042
Ectrodactyly-Cleft Palate Syndrome ECT099
Ectrodactyly-Polydactyly ECT086
Ectropion ECT005
Eculizumab, Poor Response to ECL002
Eczema Herpeticum ECZ002
Eczematous Dermatitis of Eyelid ECZ001
Edema, Familial Idiopathic, Prepubertal EDM003
Edict Syndrome EDC001
Edinburgh Malformation Syndrome EDN001
Eed-Related Overgrowth EDR001
Efavirenz, Poor Metabolism of EFV001
Efemp2-Related Cutis Laxa EFM001
Egasyn EGS001
Egg Allergy EGG001
Ego-Dystonic Sexual Orientation EGD001
Ehlers-Danlos Syndrome EHL001
Ehlers-Danlos Syndrome Progeroid Type EHL015
Ehlers-Danlos Syndrome Type 2 EHL088
Ehlers-Danlos Syndrome Type 7a EHL091
Ehlers-Danlos Syndrome Type 7b EHL090
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality EHL066
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 EHL075
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 EHL087
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified EHL077
Ehlers-Danlos Syndrome, Beasley-Cohen Type EHL082
Ehlers-Danlos Syndrome, Cardiac Valvular Type EHL061
Ehlers-Danlos Syndrome, Classic Type, 1 EHL073
Ehlers-Danlos Syndrome, Classic Type, 2 EHL074
Ehlers-Danlos Syndrome, Classic-Like EHL081
Ehlers-Danlos Syndrome, Classic-Like, 2 EHL089
Ehlers-Danlos Syndrome, Dermatosparaxis Type EHL079
Ehlers-Danlos Syndrome, Fibronectinemic Type EHL040
Ehlers-Danlos Syndrome, Hypermobility Type EHL034
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 EHL078
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 EHL084
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 EHL080
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 EHL086
Ehlers-Danlos Syndrome, Periodontal Type, 1 EHL071
Ehlers-Danlos Syndrome, Periodontal Type, 2 EHL072
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 EHL076
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 EHL085
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 EHL083
Ehlers-Danlos Syndrome, Type V EHL065
Ehlers-Danlos Syndrome, Vascular Type EHL052
Ehlers-Danlos/osteogenesis Imperfecta Syndrome EHL036
Ehrlich Tumor Carcinoma EHR001
Ehrlichiosis EHR002
Eiken Syndrome EKN001
Eisenmenger Syndrome ESN011
Elane-Related Neutropenia ELN001
Elastoderma ELS003
Elastofibroma Dorsi ELS004
Elastoma ELS005
Elastosis Perforans Serpiginosa ELS002
Elective Mutism ELC001
Electroclinical Syndrome ELC007
Electroencephalographic Pattern, Beta Frequency, Quantitative Trait Locus ELC003
Electroencephalographic Peculiarity: 14 and 6 Per Sec. Positive Spike Phenomenon ELC004
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups ELC005
Electroencephalographic Peculiarity: Occipital Slow Beta Waves ELC006
Elephantiasis ELP001
Elizabethkingia Anophelis Infection ELZ001
Elliott Ludman Teebi Syndrome ELL003
Elliptocytosis 1 ELL010
Elliptocytosis 2 ELL005
Elliptocytosis 3 ELL006
Ellis Yale Winter Syndrome ELL004
Ellis-Van Creveld Syndrome ELL001
Elsahy-Waters Syndrome ELS006
Emanuel Syndrome EMN001
Embryoma EMB002
Embryonal Carcinoma EMB004
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma EMB001
Embryonal Rhabdomyosarcoma EMB005
Embryonal Sarcoma EMB007
Embryonal Testis Carcinoma EMB006
Embryonal Tumor with Multilayered Rosettes EMB015
Embryonary Disorganization Syndrome EMB014
Emerinopathy EMR002
Emery-Dreifuss Muscular Dystrophy EMR001
Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMR017
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant EMR018
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive EMR020
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant EMR014
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant EMR015
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant EMR019
Emery-Dreifuss Muscular Dystrophy, Dominant Type EMR003
Emery-Dreifuss Muscular Dystrophy, X-Linked EMR004
Emery-Dreifuss Syndrome EMR021
Emilin-1-Related Connective Tissue Disease EML001
Emphysema, Congenital Lobar EMP011
Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation EMP013
Emphysema, Hereditary Pulmonary EMP012
Emphysematous Cholecystitis EMP002
Empty Sella Syndrome EMP001
Enamel Caries ENM001
Enamel Erosion ENM002
Enamel Hypoplasia Cataract Hydrocephaly ENM003
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis ENM004
Encapsulated Thymoma ENC001
Encephalitis ENC004
Encephalitis/encephalopathy, Mild, with Reversible Myelin Vacuolization ENC065
Encephalitozoonosis ENC003
Encephalocele ENC008
Encephalocele Anencephaly ENC009
Encephalocraniocutaneous Lipomatosis ENC010
Encephalomalacia ENC005
Encephalomalacia, Multilocular ENC052
Encephalomyopathy, Mitochondrial, Due to Voltage-Dependent Anion Channel Deficiency ENC058
Encephalopathy ENC018
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 ENC057
Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 2 ENC049
Encephalopathy Due to Mitochondrial and Peroxisomal Fission Defect ENC068
Encephalopathy Due to Prosaposin Deficiency ENC041
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration ENC043
Encephalopathy, Acute, Infection-Induced 1 ENC060
Encephalopathy, Acute, Infection-Induced 2 ENC061
Encephalopathy, Acute, Infection-Induced 5 ENC062
Encephalopathy, Acute, Infection-Induced 6 ENC037
Encephalopathy, Acute, Infection-Induced 7 ENC063
Encephalopathy, Acute, Infection-Induced 8 ENC064
Encephalopathy, Acute, Infection-Induced 4 ENC056
Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts ENC053
Encephalopathy, Ethylmalonic ENC055
Encephalopathy, Familial, with Neuroserpin Inclusion Bodies ENC039
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations ENC054
Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities ENC050
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity ENC059
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum ENC047
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy ENC046
Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 2 ENC066
Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis ENC067
Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy ENC048
Encephalopathy, Progressive, with or Without Lipodystrophy ENC038
Encephalopathy, Recurrent, of Childhood ENC045
Enchondroma ENC014
Enchondromatosis Dwarfism Deafness ENC015
Enchondromatosis, Multiple, Ollier Type ENC044
Encircling Double Aortic Arch ENC035
End Stage Renal Failure END030
Endemic Goiter END028
Endemic Kaposi Sarcoma END050
Endemic Typhus END014
Endobronchial Leiomyoma END019
Endobronchial Lipoma END006
Endocardial Fibroelastosis END020
Endocardial Fibroelastosis and Coarctation of Abdominal Aorta END082
Endocarditis END033
Endocardium Cancer END017
Endocardium Disease END074
Endocervical Adenocarcinoma END075
Endocervical Carcinoma END029
Endocervical Type Cervical Adenomyoma END023
Endocervical Type Cervical Mucinous Adenocarcinoma END026
Endocervicitis END016
Endocrine Exophthalmos END034
Endocrine Gland Cancer END035
Endocrine Organ Benign Neoplasm END036
Endocrine Pancreas Disease END038
Endocrine-Cerebroosteodysplasia END059
Endodermal Sinus Pattern Testicular Yolk Sac Tumor END005
Endodermal Sinus Tumor END039
Endogenous Depression END040
Endolymphatic Sac Tumor END051
Endometrial Adenocarcinoma END041
Endometrial Adenosquamous Carcinoma END015
Endometrial Cancer END057
Endometrial Clear Cell Adenocarcinoma END032
Endometrial Disease END080
Endometrial Hyperplasia END062
Endometrial Mixed Adenocarcinoma END027
Endometrial Mucinous Adenocarcinoma END001
Endometrial Small Cell Carcinoma END013
Endometrial Squamous Cell Carcinoma END025
Endometrial Stromal Nodule END003
Endometrial Stromal Sarcoma END031
Endometrial Stromal Tumor END043
Endometrial Transitional Cell Carcinoma END024
Endometrial Type Cervical Adenomyoma END022
Endometrioid Ovary Carcinoma END002
Endometriosis END044
Endometriosis 1 END071
Endometriosis in Scar of Skin END012
Endometriosis of Intestine END008
Endometriosis of Ovary END011
Endometriosis of Pelvic Peritoneum END009
Endometriosis of Rectovaginal Septum and Vagina END010
Endometritis END046
Endometrium Carcinoma in Situ END018
Endomyocardial Fibrosis END021
Endophthalmitis END047
Endosalpingiosis END007
Endosteal Hyperostosis, Autosomal Dominant END081
Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia END083
Endotheliitis END072
Endothrix Infectious Disease END004
Engelhard Yatziv Syndrome ENG002
Engraftment Syndrome ENG004
Enhanced S-Cone Syndrome ENH001
Enolase, Sperm Specific ENL011
Enophthalmos ENP001
Enteric Pattern Testicular Yolk Sac Tumor ENT002
Enterobiasis ENT003
Enterocele ENT001
Enterocolitis ENT011
Enterokinase Deficiency ENT006
Enteropathica ENT007
Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency ENT017
Enteropathy-Associated T-Cell Lymphoma ENT008
Enterovesical Fistula ENT016
Enterovirus Antenatal Infection ENT009
Enthesitis-Related Juvenile Idiopathic Arthritis ENT010
Enthesopathy ENT004
Entropion ENT005
Envenomization by Bothrops Lanceolatus ENV001
Eosinophil Peroxidase Deficiency ESN009
Eosinophilia, Familial ESN023
Eosinophilia-Myalgia Syndrome ESN002
Eosinophilic Colitis ESN022
Eosinophilic Cryptitis ESN012
Eosinophilic Cystitis ESN013
Eosinophilic Enteropathy ESN014
Eosinophilic Fasciitis ESN015
Eosinophilic Gastritis ESN004
Eosinophilic Gastroenteritis ESN005
Eosinophilic Granuloma ESN017
Eosinophilic Granulomatosis with Polyangiitis ESN020
Eosinophilic Mastitis ESN021
Eosinophilic Meningitis ESN006
Eosinophilic Pneumonia ESN008
Eosinophilic Pustular Folliculitis ESN016
Eosinophilic Variant of Chromophobe Renal Cell Carcinoma ESN003
Eosinophilopenia ESN024
Epb42-Related Hereditary Spherocytosis EPB003
Ependymoblastoma EPN001
Ependymoma EPN002
Epiblepharon EPB002
Epiblepharon of Lower Lid EPB006
Epiblepharon of Upper Lid EPB007
Epibulbar Lipodermoid-Preauricular Appendage-Polythelia Syndrome EPB005
Epicanthus EPC005
Epicardium Cancer EPC001
Epicardium Lipoma EPC003
Epicondylitis EPC002
Epidemic Pleurodynia EPD011
Epidemic Typhus EPD015
Epidermal Appendage Tumor EPD010
Epidermal Nevus Vitamin D Resistant Rickets EPD026
Epidermodysplasia Verruciformis 1 EPD083
Epidermodysplasia Verruciformis 2 EPD084
Epidermodysplasia Verruciformis 3 EPD085
Epidermodysplasia Verruciformis 4 EPD086
Epidermodysplasia Verruciformis 5 EPD087
Epidermodysplasia Verruciformis, X-Linked EPD079
Epidermoid Brain Cyst EPD081
Epidermoid Cysts EPD070
Epidermolysa Bullosa Simplex with Muscular Dystrophy EPD027
Epidermolysis Bullosa EPD016
Epidermolysis Bullosa Acquisita EPD006
Epidermolysis Bullosa Dystrophica EPD009
Epidermolysis Bullosa Dystrophica Neurotrophica EPD075
Epidermolysis Bullosa Dystrophica, Autosomal Dominant EPD071
Epidermolysis Bullosa Dystrophica, Autosomal Recessive EPD076
Epidermolysis Bullosa Dystrophica, Pretibial EPD072
Epidermolysis Bullosa Junctionalis with Pyloric Atresia EPD077
Epidermolysis Bullosa Pruriginosa EPD022
Epidermolysis Bullosa Simplex EPD003
Epidermolysis Bullosa Simplex Superficialis EPD052
Epidermolysis Bullosa Simplex with Anodontia/hypodontia EPD051
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema EPD035
Epidermolysis Bullosa Simplex with Mottled Pigmentation EPD023
Epidermolysis Bullosa Simplex with Muscular Dystrophy EPD050
Epidermolysis Bullosa Simplex with Nail Dystrophy EPD064
Epidermolysis Bullosa Simplex with Pyloric Atresia EPD040
Epidermolysis Bullosa Simplex, Autosomal Recessive 1 EPD080
Epidermolysis Bullosa Simplex, Autosomal Recessive 2 EPD068
Epidermolysis Bullosa Simplex, Dowling-Meara Type EPD028
Epidermolysis Bullosa Simplex, Generalized EPD029
Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss EPD067
Epidermolysis Bullosa Simplex, Localized EPD030
Epidermolysis Bullosa Simplex, Ogna Type EPD031
Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails EPD074
Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase EPD073
Epidermolysis Bullosa with Diaphragmatic Hernia EPD078
Epidermolysis Bullosa with Pyloric Atresia EPD025
Epidermolysis Bullosa, Junctional, Herlitz Type EPD061
Epidermolysis Bullosa, Junctional, Non-Herlitz Type EPD062
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation EPD032
Epidermolysis Bullosa, Lethal Acantholytic EPD033
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive EPD055
Epidermolytic Acanthoma EPD004
Epidermolytic Hyperkeratosis EPD002
Epidermolytic Nevus EPD082
Epididymal Neoplasm EPD012
Epididymis Adenocarcinoma EPD014
Epididymis Adenomatoid Tumor EPD013
Epididymis Cancer EPD017
Epididymis Disease EPD088
Epididymo-Orchitis EPD018
Epidural Abscess EPD005
Epidural Neoplasm EPD019
Epidural Spinal Canal Angiolipoma EPD007
Epidural Spinal Canal Meningioma EPD008
Epiglottis Cancer EPG002
Epiglottis Neoplasm EPG001
Epiglottitis EPG003
Epignathus EPG004
Epilepsy EPL164
Epilepsy Mental Deterioration Finnish Type EPL007
Epilepsy Occipital Calcifications EPL008
Epilepsy Progressive Myoclonic Type 3 EPL009
Epilepsy with Bilateral Occipital Calcifications EPL163
Epilepsy with Generalized Tonic-Clonic Seizures EPL001
Epilepsy with Myoclonic Absences EPL095
Epilepsy with Myoclonic-Atonic Seizures EPL230
Epilepsy, Benign Occipital EPL011
Epilepsy, Childhood Absence 1 EPL200
Epilepsy, Childhood Absence 2 EPL132
Epilepsy, Childhood Absence 5 EPL136
Epilepsy, Childhood Absence 6 EPL137
Epilepsy, Early-Onset, Vitamin B6-Dependent EPL166
Epilepsy, Familial Adult Myoclonic, 1 EPL201
Epilepsy, Familial Adult Myoclonic, 2 EPL203
Epilepsy, Familial Adult Myoclonic, 3 EPL053
Epilepsy, Familial Adult Myoclonic, 4 EPL107
Epilepsy, Familial Adult Myoclonic, 5 EPL103
Epilepsy, Familial Adult Myoclonic, 6 EPL227
Epilepsy, Familial Adult Myoclonic, 7 EPL228
Epilepsy, Familial Focal, with Variable Foci 1 EPL196
Epilepsy, Familial Focal, with Variable Foci 2 EPL187
Epilepsy, Familial Focal, with Variable Foci 3 EPL192
Epilepsy, Familial Focal, with Variable Foci 4 EPL220
Epilepsy, Familial Temporal Lobe, 1 EPL114
Epilepsy, Familial Temporal Lobe, 2 EPL115
Epilepsy, Familial Temporal Lobe, 3 EPL128
Epilepsy, Familial Temporal Lobe, 4 EPL113
Epilepsy, Familial Temporal Lobe, 5 EPL081
Epilepsy, Familial Temporal Lobe, 6 EPL124
Epilepsy, Familial Temporal Lobe, 7 EPL150
Epilepsy, Familial Temporal Lobe, 8 EPL152
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation EPL118
Epilepsy, Hearing Loss, and Mental Retardation Syndrome EPL149
Epilepsy, Hot Water, 1 EPL074
Epilepsy, Hot Water, 2 EPL075
Epilepsy, Idiopathic Generalized EPL140
Epilepsy, Idiopathic Generalized 10 EPL209
Epilepsy, Idiopathic Generalized 11 EPL084
Epilepsy, Idiopathic Generalized 12 EPL098
Epilepsy, Idiopathic Generalized 13 EPL205
Epilepsy, Idiopathic Generalized 14 EPL165
Epilepsy, Idiopathic Generalized 15 EPL236
Epilepsy, Idiopathic Generalized 2 EPL092
Epilepsy, Idiopathic Generalized 3 EPL091
Epilepsy, Idiopathic Generalized 4 EPL089
Epilepsy, Idiopathic Generalized 5 EPL090
Epilepsy, Idiopathic Generalized 7 EPL093
Epilepsy, Idiopathic Generalized 8 EPL208
Epilepsy, Idiopathic Generalized 9 EPL086
Epilepsy, Juvenile Absence 1 EPL133
Epilepsy, Juvenile Myoclonic 10 EPL217
Epilepsy, Juvenile Myoclonic 9 EPL186
Epilepsy, Myoclonic Juvenile EPL198
Epilepsy, Nocturnal Frontal Lobe, 1 EPL073
Epilepsy, Nocturnal Frontal Lobe, 2 EPL202
Epilepsy, Nocturnal Frontal Lobe, 3 EPL072
Epilepsy, Nocturnal Frontal Lobe, 4 EPL204
Epilepsy, Nocturnal Frontal Lobe, 5 EPL096
Epilepsy, Partial, Familial EPL014
Epilepsy, Partial, with Pericentral Spikes EPL050
Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation EPL197
Epilepsy, Progressive Myoclonic 7 EPL134
Epilepsy, Progressive Myoclonic, 10 EPL188
Epilepsy, Progressive Myoclonic, 1b EPL207
Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions EPL206
Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure EPL199
Epilepsy, Progressive Myoclonic, 6 EPL210
Epilepsy, Progressive Myoclonic, 8 EPL155
Epilepsy, Progressive Myoclonic, 9 EPL154
Epilepsy, Pyridoxine-Dependent EPL131
Epilepsy, Reading EPL161
Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp EPL138
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders EPL021
Epilepsy-Aphasia Spectrum EPL170
Epilepsy-Telangiectasia EPL162
Epileptic Encephalopathy, Childhood-Onset EPL116
Epileptic Encephalopathy, Early Infantile, 1 EPL037
Epileptic Encephalopathy, Early Infantile, 11 EPL023
Epileptic Encephalopathy, Early Infantile, 12 EPL024
Epileptic Encephalopathy, Early Infantile, 13 EPL082
Epileptic Encephalopathy, Early Infantile, 14 EPL097
Epileptic Encephalopathy, Early Infantile, 15 EPL099
Epileptic Encephalopathy, Early Infantile, 16 EPL117
Epileptic Encephalopathy, Early Infantile, 17 EPL119
Epileptic Encephalopathy, Early Infantile, 18 EPL102
Epileptic Encephalopathy, Early Infantile, 19 EPL126
Epileptic Encephalopathy, Early Infantile, 2 EPL025
Epileptic Encephalopathy, Early Infantile, 21 EPL127
Epileptic Encephalopathy, Early Infantile, 23 EPL123
Epileptic Encephalopathy, Early Infantile, 24 EPL125
Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta EPL231
Epileptic Encephalopathy, Early Infantile, 26 EPL130
Epileptic Encephalopathy, Early Infantile, 27 EPL135
Epileptic Encephalopathy, Early Infantile, 28 EPL139
Epileptic Encephalopathy, Early Infantile, 29 EPL153
Epileptic Encephalopathy, Early Infantile, 3 EPL026
Epileptic Encephalopathy, Early Infantile, 30 EPL157
Epileptic Encephalopathy, Early Infantile, 31 EPL151
Epileptic Encephalopathy, Early Infantile, 32 EPL146
Epileptic Encephalopathy, Early Infantile, 33 EPL156
Epileptic Encephalopathy, Early Infantile, 34 EPL159
Epileptic Encephalopathy, Early Infantile, 35 EPL193
Epileptic Encephalopathy, Early Infantile, 36 EPL169
Epileptic Encephalopathy, Early Infantile, 37 EPL189
Epileptic Encephalopathy, Early Infantile, 38 EPL171
Epileptic Encephalopathy, Early Infantile, 39 EPL185
Epileptic Encephalopathy, Early Infantile, 4 EPL027
Epileptic Encephalopathy, Early Infantile, 40 EPL177
Epileptic Encephalopathy, Early Infantile, 41 EPL180
Epileptic Encephalopathy, Early Infantile, 42 EPL172
Epileptic Encephalopathy, Early Infantile, 43 EPL175
Epileptic Encephalopathy, Early Infantile, 44 EPL181
Epileptic Encephalopathy, Early Infantile, 45 EPL174
Epileptic Encephalopathy, Early Infantile, 46 EPL176
Epileptic Encephalopathy, Early Infantile, 47 EPL173
Epileptic Encephalopathy, Early Infantile, 48 EPL191
Epileptic Encephalopathy, Early Infantile, 49 EPL190
Epileptic Encephalopathy, Early Infantile, 5 EPL028
Epileptic Encephalopathy, Early Infantile, 50 EPL183
Epileptic Encephalopathy, Early Infantile, 51 EPL178
Epileptic Encephalopathy, Early Infantile, 52 EPL179
Epileptic Encephalopathy, Early Infantile, 53 EPL195
Epileptic Encephalopathy, Early Infantile, 54 EPL182
Epileptic Encephalopathy, Early Infantile, 55 EPL194
Epileptic Encephalopathy, Early Infantile, 56 EPL211
Epileptic Encephalopathy, Early Infantile, 57 EPL213
Epileptic Encephalopathy, Early Infantile, 58 EPL215
Epileptic Encephalopathy, Early Infantile, 59 EPL216
Epileptic Encephalopathy, Early Infantile, 6 EPL184
Epileptic Encephalopathy, Early Infantile, 60 EPL218
Epileptic Encephalopathy, Early Infantile, 61 EPL219
Epileptic Encephalopathy, Early Infantile, 62 EPL221
Epileptic Encephalopathy, Early Infantile, 63 EPL222
Epileptic Encephalopathy, Early Infantile, 64 EPL223
Epileptic Encephalopathy, Early Infantile, 65 EPL224
Epileptic Encephalopathy, Early Infantile, 66 EPL226
Epileptic Encephalopathy, Early Infantile, 67 EPL229
Epileptic Encephalopathy, Early Infantile, 68 EPL232
Epileptic Encephalopathy, Early Infantile, 69 EPL233
Epileptic Encephalopathy, Early Infantile, 7 EPL068
Epileptic Encephalopathy, Early Infantile, 70 EPL234
Epileptic Encephalopathy, Early Infantile, 71 EPL235
Epileptic Encephalopathy, Early Infantile, 72 EPL237
Epileptic Encephalopathy, Early Infantile, 73 EPL238
Epileptic Encephalopathy, Early Infantile, 74 EPL239
Epileptic Encephalopathy, Early Infantile, 8 EPL038
Epileptic Encephalopathy, Early Infantile, 9 EPL029
Epileptic Encephalopathy, Infantile or Early Childhood, 1 EPL212
Epileptic Encephalopathy, Infantile or Early Childhood, 2 EPL214
Epileptic Encephalopathy, Infantile or Early Childhood, 3 EPL225
Epileptic Hemiplegia EPL031
Epimerase Deficiency Galactosemia EPM005
Epimetaphyseal Dysplasia Cataract EPM002
Epimetaphyseal Skeletal Dysplasia EPM003
Epiphora Due to Excess Lacrimation EPP002
Epiphora Due to Insufficient Drainage EPP001
Epiphyseal Chondrodysplasia, Miura Type EPP011
Epiphyseal Dysplasia Dysmorphism Camptodactyly EPP004
Epiphyseal Dysplasia Hearing Loss Dysmorphism EPP005
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness EPP023
Epiphyseal Dysplasia, Baumann Type EPP025
Epiphyseal Dysplasia, Microcephaly, and Nystagmus EPP020
Epiphyseal Dysplasia, Multiple, 1 EPP017
Epiphyseal Dysplasia, Multiple, 2 EPP012
Epiphyseal Dysplasia, Multiple, 3 EPP015
Epiphyseal Dysplasia, Multiple, 4 EPP014
Epiphyseal Dysplasia, Multiple, 5 EPP013
Epiphyseal Dysplasia, Multiple, 6 EPP009
Epiphyseal Dysplasia, Multiple, 7 EPP026
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus EPP024
Epiphyseal Dysplasia, Multiple, with Miniepiphyses EPP018
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness EPP022
Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia EPP019
Epiphysiolysis of the Hip EPP010
Episcleritis Periodica Fugax EPS002
Episodic Angioedema with Eosinophilia EPS038
Episodic Ataxia EPS003
Episodic Ataxia, Type 1 EPS042
Episodic Ataxia, Type 2 EPS035
Episodic Ataxia, Type 3 EPS014
Episodic Ataxia, Type 4 EPS037
Episodic Ataxia, Type 5 EPS034
Episodic Ataxia, Type 6 EPS017
Episodic Ataxia, Type 7 EPS015
Episodic Ataxia, Type 8 EPS033
Episodic Kinesigenic Dyskinesia 1 EPS030
Episodic Kinesigenic Dyskinesia 2 EPS013
Episodic Muscle Weakness, X-Linked EPS012
Episodic Pain Syndrome, Familial, 1 EPS039
Episodic Pain Syndrome, Familial, 2 EPS027
Episodic Pain Syndrome, Familial, 3 EPS028
Epistaxis, Hereditary EPS040
Epithelial and Subepithelial Dystrophy EPT023
Epithelial Basement Membrane Dystrophy EPT025
Epithelial Basolateral Chloride Conductance Regulator, Rabbit, Homolog of EPT028
Epithelial Malignant Thymoma EPT007
Epithelial Predominant Pulmonary Blastoma EPT004
Epithelial Predominant Wilms' Tumor EPT005
Epithelial Recurrent Erosion Dystrophy EPT021
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract EPT027
Epithelial-Myoepithelial Carcinoma EPT010
Epithelial-Stromal Tgfbi Dystrophy EPT024
Epithelioid Cell Melanoma EPT001
Epithelioid Cell Synovial Sarcoma EPT009
Epithelioid Hemangioendothelioma EPT020
Epithelioid Inflammatory Myofibroblastic Sarcoma EPT029
Epithelioid Leiomyosarcoma EPT011
Epithelioid Malignant Peripheral Nerve Sheath Tumor EPT008
Epithelioid Neurofibroma EPT006
Epithelioid Sarcoma EPT012
Epithelioid Trophoblastic Tumor EPT003
Epithelioid Type Angiomyolipoma EPT002
Epstein-Barr Virus Hepatitis EPS001
Epstein-Barr Virus-Associated Gastric Carcinoma EPS023
Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma of the Elderly EPS031
Epulis EPL003
Equatorial Staphyloma EQT001
Erb-Duchenne and Dejerine-Klumpke Palsies ERB001
Erb's Palsy ERB002
Erdheim-Chester Disease ERD001
Ermine Phenotype ERM001
Erosive Pustular Dermatosis of the Scalp ERS002
Erysipelas ERY004
Erysipeloid ERY001
Erythema Elevatum Diutinum ERY017
Erythema Infectiosum ERY002
Erythema Multiforme ERY003
Erythema Multiforme Major ERY066
Erythema Nodosum, Familial ERY057
Erythema Nodosum, Idiopathic ERY018
Erythema of Acral Regions ERY059
Erythema Palmare Hereditarium ERY050
Erythematosquamous Dermatosis ERY005
Erythermalgia, Primary ERY029
Erythrasma ERY010
Erythrocyte Amp Deaminase Deficiency ERY039
Erythrocyte Galactose Epimerase Deficiency ERY041
Erythrocyte Lactate Transporter Defect ERY030
Erythrocytosis, Familial, 1 ERY058
Erythrocytosis, Familial, 2 ERY048
Erythrocytosis, Familial, 3 ERY031
Erythrocytosis, Familial, 4 ERY032
Erythrocytosis, Familial, 5 ERY063
Erythrocytosis, Familial, 6 ERY064
Erythrocytosis, Familial, 7 ERY065
Erythrocytosis, Familial, 8 ERY067
Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige ERY061
Erythroderma, Ichthyosiform, Congenital Reticular ERY060
Erythroderma, Lethal Congenital ERY049
Erythrokeratodermia Variabilis Et Progressiva 1 ERY053
Erythrokeratodermia Variabilis Et Progressiva 2 ERY054
Erythrokeratodermia Variabilis Et Progressiva 3 ERY055
Erythrokeratodermia Variabilis Et Progressiva 4 ERY056
Erythrokeratodermia Variabilis Et Progressiva 5 ERY062
Erythrokeratodermia-Cardiomyopathy Syndrome ERY052
Erythroleukemia, Familial ERY051
Erythromelalgia ERY008
Erythroplakia ERY023
Erythropoietic Protoporphyria, Autosomal Recessive ERY016
Erythropoietic Uroporphyria Associated with Myeloid Malignancy ERY024
Erythropoietin Polycythemia ERY007
Escher Hirt Syndrome ESC001
Escobar Syndrome, Type B ESC002
Esophageal Adenoid Cystic Carcinoma ESP012
Esophageal Adenosquamous Carcinoma ESP006
Esophageal Atresia ESP020
Esophageal Atresia Coloboma Talipes ESP030
Esophageal Atresia/tracheoesophageal Fistula ESP029
Esophageal Basaloid Squamous Cell Carcinoma ESP010
Esophageal Cancer ESP021
Esophageal Cancer, Childhood ESP031
Esophageal Candidiasis ESP018
Esophageal Disease ESP023
Esophageal Diverticulosis ESP017
Esophageal Duplication Cyst ESP040
Esophageal Leukoplakia ESP008
Esophageal Lipoma ESP003
Esophageal Neuroendocrine Tumor ESP009
Esophageal Ring, Lower ESP044
Esophageal Tuberculosis ESP001
Esophageal Varix ESP002
Esophagitis ESP024
Esophagitis, Eosinophilic, 1 ESP035
Esophagitis, Eosinophilic, 2 ESP034
Esophagus Adenocarcinoma ESP025
Esophagus Carcinoma in Situ ESP005
Esophagus Leiomyoma ESP014
Esophagus Leiomyosarcoma ESP019
Esophagus Liposarcoma ESP007
Esophagus Lymphoma ESP015
Esophagus Melanoma ESP016
Esophagus Sarcoma ESP026
Esophagus Small Cell Carcinoma ESP004
Esophagus Squamous Cell Carcinoma ESP027
Esophagus Squamous Cell Papilloma ESP013
Esophagus Verrucous Carcinoma ESP011
Esotropia EST005
Essential Iris Atrophy ESS005
Essential Pentosuria ESS007
Essential Thrombocythemia ESS003
Essential Tremor ESS001
Esterase B EST010
Esterase C EST011
Esterase Es-2, Regulator for EST012
Estrogen Excess EST004
Estrogen Resistance EST007
Estrogen-Receptor Negative Breast Cancer EST002
Estrogen-Receptor Positive Breast Cancer EST001
Ethanolaminosis ETH014
Ethmoid Sinus Adenocarcinoma ETH001
Ethmoid Sinus Adenoid Cystic Carcinoma ETH002
Ethmoid Sinus Cancer ETH008
Ethmoid Sinus Ectopic Meningioma ETH007
Ethmoid Sinus Inverted Papilloma ETH006
Ethmoid Sinus Schneiderian Papilloma ETH005
Ethmoid Sinus Squamous Cell Carcinoma ETH003
Ethmoid Sinusitis ETH009
Ethmoidal Sinus Neoplasm ETH010
Ethylene Glycol Poisoning ETH012
Eukaryotic Translation Elongation Factor 1 Alpha-1-Like 14 EKR001
Eumycotic Mycetoma EMY001
Eunuchism ENC002
Euryblepharon ERY043
Eustachian Tube Disease EST006
Euthyroid Graves Orbitopathy ETH013
Euthyroid Sick Syndrome ETH004
Evans' Syndrome EVN001
Even-Plus Syndrome EVN003
Eversion of Lacrimal Punctum EVR001
Ewing Sarcoma EWN003
Ewing's Family of Tumors EWN002
Exanthem EXN002
Exanthema Subitum EXN001
Excessive Tearing EXC003
Exchondrosis of Pinna, Posterior EXC005
Exencephaly EXN003
Exercise Intolerance, Riboflavin-Responsive EXR006
Exercise-Induced Anaphylaxis EXR007
Exercise-Induced Malignant Hyperthermia EXR008
Exertional Headache EXR004
Exfoliation Syndrome EXF001
Exfoliative Dermatitis EXF003
Exfoliative Ichthyosis EXF002
Exhibitionism EXH001
Exocervical Carcinoma EXC001
Exocrine Pancreatic Insufficiency EXC002
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis EXC004
Exogenous Ochronosis EXG001
Exophthalmic Ophthalmoplegia EXP003
Exophthalmos EXP004
Exosc3-Related Pontocerebellar Hypoplasia EXS014
Exostoses of Heel EXS018
Exostoses with Anetodermia and Brachydactyly, Type E EXS015
Exostoses, Multiple, Type I EXS019
Exostoses, Multiple, Type Ii EXS020
Exostoses, Multiple, Type Iii EXS021
Exostosis EXS001
Exostosis, Dupuytren Subungual EXS022
Exotropia EXT022
Expansile Bone Lesions EXP005
Exposure Keratitis EXP002
Expressive Language Disorder EXP001
Exstrophy of Bladder EXS017
Extensive Peripapillary Myelinated Nerve Fibers EXT057
External Auditory Canal Aplasia/hypoplasia EXT043
External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus EXT059
External Auditory Meatus Lipoma EXT004
External Ear Basal Cell Carcinoma EXT018
External Ear Carcinoma EXT023
External Ear Disease EXT056
External Ear Squamous Cell Carcinoma EXT016
External Pathological Resorption EXT020
Extra-Adrenal Pheochromocytoma EXT054
Extracardiac Rhabdomyoma EXT061
Extracranial Arteriovenous Malformation EXT051
Extracranial Carotid Artery Aneurysm EXT062
Extracranial Neuroblastoma EXT024
Extracutaneous Mastocytoma EXT007
Extragonadal Germ Cell Cancer EXT025
Extragonadal Germinoma EXT055
Extragonadal Nonseminomatous Germ Cell Tumor EXT053
Extragonadal Seminoma EXT001
Extragonadal Teratoma EXT060
Extrahepatic Bile Duct Adenocarcinoma EXT027
Extrahepatic Bile Duct Adenoma EXT028
Extrahepatic Bile Duct Cystadenoma EXT014
Extrahepatic Bile Duct Leiomyoma EXT013
Extrahepatic Bile Duct Leiomyosarcoma EXT021
Extrahepatic Bile Duct Lipoma EXT005
Extrahepatic Bile Duct Papillary Adenoma EXT017
Extrahepatic Bile Duct Small Cell Adenocarcinoma EXT002
Extrahepatic Biliary Papillomatosis EXT015
Extrahepatic Cholestasis EXT006
Extralobar Congenital Pulmonary Sequestration EXT047
Extramedullary Plasmacytoma EXT010
Extramedullary Soft Tissue Plasmacytoma EXT049
Extraneural Perineurioma EXT050
Extranodal Nasal Nk/t Cell Lymphoma EXT048
Extraocular Retinoblastoma EXT029
Extraoral Halitosis Due to Methanethiol Oxidase Deficiency EXT064
Extraosseous Chondrosarcoma EXT030
Extraosseous Ewing's Sarcoma EXT031
Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor EXT008
Extraosseous Osteosarcoma EXT032
Extrapelvic Endometriosis EXT063
Extrapontine Myelinolysis EXT039
Extrapulmonary Tuberculosis EXT033
Extrapyramidal and Movement Disease EXT011
Extraskeletal Chondroma EXT012
Extraskeletal Ewing Sarcoma EXT052
Extraskeletal Mesenchymal Chondrosarcoma EXT003
Extrasystoles Short Stature Hyperpigmentation Microcephaly EXT038
Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly EXT058
Extratemporal Epilepsy EXT009
Extraventricular Neurocytoma EXT044
Extrinsic Allergic Alveolitis EXT034
Extrinsic Cardiomyopathy EXT035
Exudative Glomerulonephritis EXD002
Exudative Vitreoretinopathy EXD001
Exudative Vitreoretinopathy 1 EXD008
Exudative Vitreoretinopathy 2, X-Linked EXD009
Exudative Vitreoretinopathy 3 EXD007
Exudative Vitreoretinopathy 4 EXD004
Exudative Vitreoretinopathy 5 EXD006
Exudative Vitreoretinopathy 6 EXD010
Exudative Vitreoretinopathy 7 EXD012
Eye Accommodation Disease EYC003
Eye Carcinoma in Situ EYC001
Eye Degenerative Disease EYD001
Eye Lymphoma EYL003
Eyebrow, Whorl in EYB006
Eyebrows, Duplication of, with Stretchable Skin and Syndactyly EYB005
Eyelid Benign Neoplasm EYL006
Eyelid Carcinoma EYL002
Eyelid Degenerative Disease EYL004
Eyelid Disease EYL005
Ezh2-Related Overgrowth EZH001
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