List of Rare Diseases

E

E3-deficient maple syrup urine disease
Eagle-Barret syndrome
Eales disease
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy with suppression-bursts
Early myoclonic encephalopathy
Early myoclonic encephalopathy with suppression-bursts
Early-onset anterior polar cataract
Early-onset anterior subcapsular cataract
Early-onset ataxia with dementia
Early-onset autosomal dominant Alzheimer disease
Early-onset benign childhood occipital epilepsy
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Early-onset cataract with Y-shaped suture opacities
Early-onset cerebellar ataxia with retained tendon reflexes
Early-onset desmin-related myopathy
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
Early-onset dystonia parkinsonism
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Early-onset familial autosomal dominant Alzheimer disease
Early onset familial encephalopathy with neuroserpin inclusion bodies
Early-onset familial hyperreninemic hypoaldosteronism
Early-onset familial hypoaldosteronism
Early-onset familial noncirrhotic portal hypertension
Early-onset generalized limb-onset dystonia
Early-onset generalized torsion dystonia
Early-onset hypertension with exacerbation in pregnancy
Early-onset isolated dystonia
Early-onset Lafora body disease
Early-onset lamellar cataract
Early-onset multiple carboxylase deficiency
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-onset myopathy with fatal cardiomyopathy
Early-onset non-syndromic cataract
Early-onset nuclear cataract
Early-onset Parkinson disease
Early-onset parkinsonism-intellectual disability syndrome
Early-onset partial cataract
Early-onset posterior polar cataract
Early-onset posterior subcapsular cataract
Early-onset primary dystonia
Early-onset prion disease with prominent psychiatric features
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Early-onset progressive encephalopathy with migrant continuous myoclonus
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Early-onset schizophrenia
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Early-onset severe retinal dystrophy
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Early-onset sutural cataract
Early-onset torsion dystonia
Early-onset vitelliform macular dystrophy
Early-onset X-linked optic atrophy
Early-onset zonular cataract
Ear-patella-short stature syndrome
Eastern equine encephalitis
Eastern equine encephalomyelitis
Eastman-Bixler syndrome
EAST syndrome
East Texas bleeding disorder
Eating epilepsy
Eating reflex epilepsy
Eating seizures
EATL
E-beta-thalassemia
EBJ
EBJ-I
EBMD
Ebola fever
Ebola hemorrhagic fever
Ebola virus disease
EB progressive
EBS
EBS-AR BP230
EBS-AR exophilin 5
EBS-AR KRT14
EBS, autosomal recessive K14
EBS, generalized intermediate
EBS, generalized severe
EBS-loc
EBS-MD
EBS-migr
EBS-MP
EBS-O
EBS-PA
EBSS
Ebstein anomaly of the tricuspid valve
Ebstein malformation
EBVaGC
EBV-associated carcinoma
EBV-associated gastric carcinoma
EBV-associated lymphoproliferative disorder
EBV-associated mesenchymal tumor
EBV-positive DLBCL of the elderly
EBV-related tumor
ECAA
ECCA
Eccrine tumors-ectodermal dysplasia
Echinococcus multilocularis infection
ECO syndrome
Ectasia of the left atrial appendage
Ectasia of the left auricle
Ectasia of the right atrial appendage
Ectasia of the right atrial auricle
Ectasic coloboma
Ectodermal dysplasia
Ectodermal dysplasia-acanthosis nigricans syndrome
Ectodermal dysplasia, Berlin type
Ectodermal dysplasia-blindness syndrome
Ectodermal dysplasia-cutaneous syndactyly syndrome
Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Ectodermal dysplasia-sensorineural deafness syndrome
Ectodermal dysplasia-sensorineural hearing loss syndrome
Ectodermal dysplasia-short stature syndrome
Ectodermal dysplasia-skin fragility syndrome
Ectodermal dysplasia-syndactyly syndrome
Ectodermal dysplasia syndrome
Ectodermal dysplasia, trichoodontoonychial type
Ectodermal dysplasia with natal teeth, Turnpenny type
Ectopia cordis
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Ectopia lentis syndrome
Ectopic ACTH secreting tumor
Ectopic aldosterone-producing tumor
Ectopic Cushing syndrome
Ectopic neurohypophysis
Ectrodactyly
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
Ectrodactyly-polydactyly syndrome
Ectrodactyly-spina bifida-cardiopathy syndrome
Ectrodactyly with and without other manifestations
Ectropion inferior-cleft lip and/or palate syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
EDA-ID
EDCS
EDICT syndrome
Edinburgh malformation syndrome
EDM
EDM1
EDM4
EDM5
EDMD
EDMD2
EDMD3
EDS-HT
EDS III
EDS IV
EDS IX
EDS/myopathy overlap syndrome
EDS/OI syndrome
EDS progeroid type 1
EDSS
EDSS1
EDSS2
Edström Myopathy
EDS V
EDS VI
EDS VIA
EDS VII
EDS VIII
EDS with short stature and limb anomalies
Edwards-Patton-Dilly syndrome
Edwards syndrome
EEB
EEC
EEC syndrome
EEC syndrome and related disorders
EEC syndrome and related syndrome
EEM syndrome
Efavirenz toxicity
Effort subclavian vein thrombosis
EFMR
EGE
EGID
EGPA
EHEC-HUS
EHF
EHK
Ehlers-Danlos/osteogenesis imperfecta syndrome
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome, arthrochalasia type
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome hypermobility type
Ehlers-Danlos syndrome, Kosho type
Ehlers-Danlos syndrome, periodontitis type
Ehlers-Danlos syndrome progeroid type 2
Ehlers-Danlos syndrome type 3
Ehlers-Danlos syndrome type 4
Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 6
Ehlers-Danlos syndrome type 6A
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome type 7C
Ehlers-Danlos syndrome type 8
Ehlers-Danlos syndrome type 9
Ehlers-Danlos syndrome type IX
Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
Ehrlichiosis
Ehrmann-Sneddon syndrome
EI
EIEE
EIHI
Eiken syndrome
Eisenmenger syndrome
EKC syndrome
EKV
Elastoderma
Elastofibroma dorsi
Elastoma
Elastosis perforans serpiginosa
Elastotic striae
Elejalde disease
Elejalde syndrome
Ellis Van Creveld syndrome
Ellis-Yale-Winter syndrome
Elsahy-Waters syndrome
Elschnig syndrome
Emanuel syndrome
EMARDD
EMAS
Emberger syndrome
Embryonal carcinoma
Embryonal carcinoma of the central nervous system
Embryonal carcinoma of the CNS
Embryonal rhabdomyosarcoma
Embryonal sarcoma of the liver
Embryonal tumor of neuroepithelial tissue
Embryonic testicular regression syndrome
EMEA
Emery-Dreifuss muscular dystrophy
Emery-Nelson syndrome
EMILIN-1-related connective tissue disease
Enamel-renal syndrome
Encephalitis
Encephalitis lethargica
Encephaloclastic disorder
Encephaloclastic proliferative vasculopathy
Encephalocraniocutaneous lipomatosis
Encephalofacial angiomatosis
Encephalopathy due to GLUT1 deficiency
Encephalopathy due to mitochondrial and peroxisomal fission defect
Encephalopathy due to prosaposin deficiency
Encephalopathy due to sulfite oxidase deficiency
Encephalopathy due to urocanase deficiency
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Encephalopathy-intracerebral calcification-retinal degeneration syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
Encephalotrigeminal angiomatosis
Encircling double aortic arch
Endemic typhus
Endocardial fibroelastosis
Endocrine active pituitary adenoma
Endocrine-cerebro-osteodysplasia syndrome
Endodermal sinus tumor
Endodermal sinus tumor of central nervous system
Endodermal sinus tumor of CNS
Endoepithelial corneal dystrophy
Endometrial adenoid cystic carcinoma
Endometrial capillary carcinoma
Endometrial squamous cell carcinoma
Endometrial stromal sarcoma
Endometrial transitional cell carcinoma
Endometrial undifferentiated carcinoma
Endometrioid carcinoma of ovary
Endometriosis outside pelvis
Endomyocardial fibroelastosis
Endophthalmitis
Endophthalmitis phacoanaphylactica
Endosteal hyperostosis, Worth type
Endosteal sclerosis-cerebellar hypoplasia syndrome
Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
Endotheliitis
Energy metabolism disorder with epilepsy
Eng-Strom syndrome
Enhanced S-cone syndrome
Enlarged parietal foramina
Enteric anendocrinosis
Enteric duplication cyst of the tongue
Enteropathy-associated T-cell lymphoma
Enteropathy-type T-cell lymphoma
Enthesitis-related JIA
Enthesitis-related juvenile idiopathic arthritis
Enzalutamide toxicity
EOCA
EOCARR
EoE
EOE
EOFAD
EOMFC
EOPPC
Eosinophilic angiocentric fibrosis
Eosinophilic cellulitis
Eosinophilic colitis
Eosinophilic endocarditis
Eosinophilic enteritis
Eosinophilic esophagitis
Eosinophilic fasciitis
Eosinophilic gastroenteritis
Eosinophilic gastroenterocolitis
Eosinophilic granuloma
Eosinophilic granulomatosis with polyangiitis
Eosinophilic lymphogranuloma
EOSRD
EOTD
Ependymal tumor
Ependymoblastoma
Ependymoma
Epiblepharon
Epibronchial right pulmonary vein syndrome
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Epidemic typhus
Epidermal appendage anomaly
Epidermal disease
Epidermal hamartoma syndrome
Epidermal nevus syndrome
Epidermal nevus with epidermolytic hyperkeratosis
Epidermodysplasia verruciformis
Epidermolysis bullosa acquisita
Epidermolysis bullosa atrophicans
Epidermolysis bullosa dystrophica
Epidermolysis bullosa hereditaria
Epidermolysis bullosa letalis
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex, autosomal recessive K14
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex due to BP230 deficiency
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Epidermolysis bullosa simplex due to plakophilin deficiency
Epidermolysis bullosa simplex, generalized intermediate
Epidermolysis bullosa simplex, generalized severe
Epidermolysis bullosa simplex, herpetiformis
Epidermolysis bullosa simplex, Köbner type
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex superficialis
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex with anodontia/hypodontia
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolytic epidermal nevus
Epidermolytic hyperkeratosis
Epidermolytic nevus
Epidermolytic palmoplantar keratoderma
Epidermolytic palmoplantar keratoderma of Voerner
Epidermolytic palmoplantar keratoderma of Vörner
Epidermolytic verrucous epidermal nevus
Epignathus
Epilepsy and/or ataxia with myoclonus as major feature
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-dementia-amelogenesis imperfecta syndrome
Epilepsy due to FCD
Epilepsy-microcephaly-skeletal dysplasia syndrome
Epilepsy syndrome
Epilepsy-telangiectasia syndrome
Epilepsy with myoclonic absences
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with global cerebral demyelination
Epimerase deficiency galactosemia
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Epiphyseal dysplasia-microcephaly-nystagmus syndrome
Epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome
Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome
Epiphysiolysis of the hip
Epiphysiolysis of the upper femur
Episkopi blindness
Episodic ataxia type 1
Episodic ataxia type 2
Episodic ataxia type 3
Episodic ataxia type 4
Episodic ataxia type 5
Episodic ataxia type 6
Episodic ataxia type 7
Episodic ataxia type 8
Episodic ataxia-vertigo-tinnitus-myokymia syndrome
Episodic ataxia with myokymia
Episodic ataxia with slurred speech
Episodic choreoathetosis/spasticity
Episodic spontaneous hypothermia
Epithelial basement membrane dystrophy
Epithelial cancer of ovary
Epithelial recurrent erosion dystrophy
Epithelial tumor of anal canal
Epithelial tumor of the appendix
Epithelioid hemangioendothelioma
Epithelioid sarcoma
Epithelioid trophoblastic tumor
Epithelioma calcificans of Malherbe
EPM2
EPM3
EPM4
EPM5
EPM6
EPM7
EPM8
EPM9
EPP
EPPK
Epstein-Barr Virus-associated carcinoma
Epstein-Barr virus-associated gastric carcinoma
Epstein-Barr virus-associated malignant lymphoproliferative disorder
Epstein-Barr Virus-associated mesenchymal tumor
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
Epstein-Barr Virus-related tumor
ERA
Erdheim-Chester disease
ERED
Ermine phenotype
Eroded polypoid hyperplasia
Erosive pustular dermatosis of the scalp
Eruptive collagenoma
Erythema elevatum diutinum
Erythema exsudativum multiforme majus
Erythema multiforme major
Erythema multiforme majus
Erythema palmare hereditarium
Erythrocyte epimerase deficiency galactosemia
Erythrocyte galactose epimerase deficiency
Erythrocyte GALE-D
Erythrocyte GALE deficiency
Erythrocyte lactate transporter defect
Erythrocyte UDP-galactose-4-epimerase deficiency
Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
Erythroderma desquamativum
Erythrodermic ichthyosis
Erythroedema polyneuritis
Erythrokeratoderma
Erythrokeratoderma ”en cocardes”
Erythrokeratoderma variabilis progressiva
Erythrokeratodermia-cardiomyopathy syndrome
Erythrokeratodermia progressiva symmetrica
Erythrokeratodermia variabilis
Erythrokeratodermia variabilis, Mendes da Costa type
Erythrokeratodermia with ataxia
Erythrokeratolysis hiemalis
Erythroleukemia
Erythropoietic uroporphyria associated with myeloid malignancy
ESCC
Escher-Hirt syndrome
Escobar syndrome
Escobar variant multiple pterygium syndrome
Esophageal adenocarcinoma
Esophageal atresia
Esophageal carcinoma
Esophageal carcinoma, salivary gland type
Esophageal duplication cyst
Esophageal epidermoid carcinoma
Esophageal malformation
Esophageal NEN
Esophageal neuroendocrine neoplasm
Esophageal squamous cell carcinoma
Essential cryoglobulinemia
Essential fructosuria
Essential iris atrophy
Essential mixed cryoglobulinemia
Essential pentosuria
Essential thrombocythemia
Essential thrombocytosis
Esthesioneuroblastoma
Estrogen resistance syndrome
ET
Ethylene glycol poisoning
Ethylmalonic encephalopathy
ETRS
ETTL
Euhidrotic ectodermal dysplasia
Euryblepharon
Euthyroid Graves ophthalmopathy
Euthyroid Graves orbitopathy
Evans syndrome
Evans syndrome associated with primary immunodeficiency
EVEN-plus syndrome
EVMPS
EVN
Ewing sarcoma
Excess breast volume or number
Excretory apparatus of the lacrimal system anomaly
Exercise-induced delayed-onset myotonia
Exercise-induced hyperinsulinemic hypoglycemia
Exercise-induced hyperinsulinism
Exercise-induced malignant hyperthermia
Exercise intolerance with lactic acidosis
Exertional heat stroke
Exfoliative ichthyosis
Exomphalos-macroglossia-gigantism syndrome
Exostoses-anetodermia-brachydactyly type E syndrome
Expanded spectrum hemifacial microsomia
Exposure-related interstitial lung disease
Exstrophy-epispadias complex
Extensive peripapillary myelinated nerve fibers
Extensor tendons of finger anomalies
External auditory canal aplasia/hypoplasia
External auditory canal atresia-vertical talus-hypertelorism syndrome
External auditory canal stenosis/atresia
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Extra-adrenal aldosterone-producing tumor
Extracranial carotid artery aneurysm
Extracutaneous mastocytoma
Extragonadal germ cell tumor
Extragonadal germinoma
Extragonadal non-dysgerminomatous germ cell tumor
Extragonadal teratoma
Extralobar congenital bronchopulmonary sequestration
Extralobar congenital pulmonary sequestration
Extramammary Paget disease
Extramedullary myeloid tumor
Extramedullary soft tissue plasmacytoma
Extraneural perineurioma
Extranodal marginal zone B-cell lymphoma
Extranodal nasal NK/T cell lymphoma
Extraosseous Ewing sarcoma
Extraosseous Ewing tumor
Extra-ovarian primary peritoneal carcinoma
Extrapelvic endometriosis
Extraskeletal Ewing sarcoma
Extraskeletal Ewing tumor
Extraskeletal myxoid chondrosarcoma
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Extraventricular neurocytoma
Extrinsic allergic alveolitis
Extrinsic biliary compression syndrome
Eyebrow duplication-syndactyly syndrome
Eye defects-arachnodactyly-cardiopathy syndrome
Eyelid border anomaly
Eyelid myoclonia with and without absences
Eyelids malposition disorder

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