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