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Eales diseaseView → Ear-patella-short stature syndrome2 recruitingView → Early infantile developmental and epileptic encephalopathy1 recruitingNeurologicalView → Early myoclonic encephalopathyNeurologicalView → Early onset non-syndromic cataract1 recruitingView → Early-onset anterior polar cataractView → Early-onset ataxia with dementiaNeurologicalGroupView → Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiencyImmuneView → Early-onset autoinflammatory syndrome due to A20 haploinsufficiencyImmuneView → Early-onset autosomal dominant Alzheimer disease3 recruitingView → Early-onset autosomal recessive TTN-related distal myopathyNeuromuscularView → Early-onset calcifying leukoencephalopathy-skeletal dysplasiaNeurologicalView → Early-onset cerebellar ataxia with retained tendon reflexes1 recruitingNeurologicalView → Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutationImmuneView → Early-onset epilepsy-intellectual disability-brain anomalies syndrome1 recruitingNeurologicalView → Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationNeurologicalView → Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeNeurologicalView → Early-onset familial hypoaldosteronismView → Early-onset familial noncirrhotic portal hypertensionView → Early-onset generalized limb-onset dystoniaView → Early-onset idiopathic chronic pancreatitisView → Early-onset immune dysregulation due to DOCK11 complete deficiencyView → Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiencyView → Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndromeImmuneView → Early-onset lamellar cataractView → Early-onset myopathy with fatal cardiomyopathyNeuromuscularView → Early-onset myopathy-areflexia-respiratory distress-dysphagia syndromeNeuromuscularView → Early-onset nuclear cataractView → Early-onset obesity-hyperphagia-severe developmental delay syndromeView → Early-onset parkinsonism-intellectual disability syndromeNeurologicalView → Early-onset partial cataract1 recruitingView → Early-onset posterior polar cataractView → Early-onset posterior subcapsular cataractView → Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeView → Early-onset progressive encephalopathy with migrant continuous myoclonusNeurologicalView → Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeNeurologicalView → Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeNeurologicalView → Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndromeNeurologicalView → Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1 recruitingNeurologicalView → Early-onset sarcoidosis2 recruitingView → Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeNeurologicalView → Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiencyView → Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeNeurologicalView → Early-onset sutural cataractView → Early-onset X-linked optic atrophy1 recruitingView → Early-onset zonular cataractView → EAST syndrome6 recruitingView → East Texas bleeding disorderView → Eastern equine encephalitisView → Eating reflex epilepsyNeurologicalView → Ebola hemorrhagic fever3 recruitingView → Ebstein malformation of the tricuspid valveView → EBV-induced lymphoproliferative disease due to CARMIL2 deficiencyView → EBV-induced lymphoproliferative disease due to CD137 deficiencyView → EBV-induced lymphoproliferative disease due to CD70 deficiencyView → EBV-induced lymphoproliferative disease due to PRKCD deficiencyView → EBV-induced lymphoproliferative disease due to RASGRP1 deficiencyView → EBV-induced lymphoproliferative disease due to TET2 deficiencyView → Eccrine angiomatous hamartomaView → Ectasia of the left atrial appendageView → Ectasia of the right atrial appendageView → Ectodermal dysplasia syndromeDermatologicalGroupView → Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teethDermatologicalView → Ectodermal dysplasia with natal teeth, Turnpenny typeDermatologicalView → Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipplesDermatologicalView → Ectodermal dysplasia-blindness syndrome1 recruitingDermatologicalView → Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndromeDermatologicalView → Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome2 recruitingDermatologicalView → Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairmentDermatologicalView → Ectodermal dysplasia-pili torti-cutaneous syndactyly syndromeDermatologicalView → Ectodermal dysplasia-sensorineural deafness syndrome1 recruitingDermatologicalView → Ectodermal dysplasia-skin fragility syndromeDermatologicalView → Ectodermal dysplasia, trichoodontoonychial typeDermatologicalView → Ectopia cordisView → Ectopia lentis-chorioretinal dystrophy-myopia syndromeOphthalmologicalView → Ectopic aldosterone-producing tumorView → Ectrodactyly with and without other manifestationsGroupView → Ectrodactyly-cleft palate syndromeView → Ectrodactyly-ectodermal dysplasia without clefting syndromeDermatologicalView → Ectrodactyly-polydactyly syndromeView → Ectrodactyly-spina bifida-cardiopathy syndromeView → EDEM3-CDG1 recruitingView → EDICT syndromeView → Edinburgh malformation syndromeView → EEC syndromeView → EEC syndrome and related disordersGroupView → EEM syndrome1 recruitingView → EGF-related primary hypomagnesemia with intellectual disabilityView → Ehlers-Danlos Syndrome15 recruitingConnective TissueView → Ehlers-Danlos syndrome with periventricular heterotopiaNeurologicalView → Ehlers-Danlos/osteogenesis imperfecta syndromeConnective TissueView → EhrlichiosisView → Eiken syndromeView → Eisenmenger syndrome3 recruitingView → ElastodermaView → Elastofibroma dorsiView → ElastomaView → Elastosis perforans serpiginosaView → Ellis Van Creveld syndromeView → Emanuel syndrome1 recruitingView → Embryonal carcinoma255 recruitingOncologyView → Embryonal carcinoma of the central nervous system7 recruitingOncologyView → Embryonal rhabdomyosarcoma24 recruitingOncologyView → Embryonal tumor of neuroepithelial tissueGroupView → Embryonal tumor with multilayered rosettes140 recruitingView → EmergomycosisView → Emery-Dreifuss Muscular Dystrophy3 recruitingNeuromuscularView → Emery-Nelson syndromeView → EMILIN-1-related connective tissue diseaseConnective TissueView → EN1-related dorsoventral syndromeView → Enamel-renal syndromeRenalView → Encapsulating peritoneal sclerosisView → EncephalitisGroupView → Encephalitis lethargicaView → Encephalocraniocutaneous lipomatosisView → Encephalopathy due to mitochondrial and peroxisomal fission defectNeurologicalView → Encephalopathy due to prosaposin deficiencyNeurologicalView → Encephalopathy due to sulfite oxidase deficiencyNeurologicalView → Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 recruitingNeurologicalView → Enchondromatosis5 recruitingConnective TissueView → Encircling double aortic archView → Endemic pemphigus foliaceusDermatologicalView → Endocardial fibroelastosisView → Endocrine-cerebro-osteodysplasia syndromeView → Endocrinopathy with congenital hypogonadotropic hypogonadism as a major featureGroupView → Endogenous Cushing syndromeEndocrineGroupView → Endometrial stromal sarcoma10 recruitingOncologyView → Endometrioid carcinoma of ovary28 recruitingOncologyView → Endophthalmitis3 recruitingOphthalmologicalView → Endosteal hyperostosis, Worth typeView → Endosteal sclerosis-cerebellar hypoplasia syndromeNeurologicalView → Energy metabolism disorder with epilepsyNeurologicalGroupView → Eng-Strom syndromeView → Enlarged parietal foraminaView → Enteric anendocrinosisView → Enteropathy-associated T-cell lymphoma4 recruitingBloodView → Enthesitis-related juvenile idiopathic arthritis5 recruitingView → Eosinophilic angiocentric fibrosisView → Eosinophilic colitis3 recruitingView → Eosinophilic cystitisView → Eosinophilic fasciitis1 recruitingView → Eosinophilic gastroenteritis37 recruitingView → Ependymoblastoma140 recruitingOncologyView → Ependymoma29 recruitingView → EPHB4-related capillary malformation-arteriovenous malformationView → EPHB4-related lymphatic-related hydrops fetalisView → EpiblepharonView → Epibulbar lipodermoid-preauricular appendage-polythelia syndromeView → Epidemic typhus1 recruitingView → Epidermal appendage anomalyGroupView → Epidermal diseaseGroupView → Epidermal Nevus Syndrome5 recruitingDermatologicalView → Epidermolysis BullosaConnective TissueView → Epidermolysis bullosa acquisita1 recruitingDermatologicalView → Epidermolysis bullosa simplex due to BP230 deficiencyDermatologicalView → Epidermolysis bullosa simplex due to exophilin 5 deficiencyDermatologicalView → Epidermolysis bullosa simplex with anodontia/hypodontiaDermatologicalView → Epidermolysis bullosa simplex with circinate migratory erythemaDermatologicalView → Epidermolysis bullosa simplex with extracutaneous involvementDermatologicalGroupView → Epidermolysis bullosa simplex with mottled pigmentationDermatologicalView → Epidermolysis bullosa simplex with muscular dystrophyNeuromuscularView → Epidermolysis bullosa simplex with pyloric atresiaDermatologicalView → Epidermolysis bullosa simplex without extracutaneous involvementDermatologicalGroupView → Epidermolytic nevusView → Epidermolytic palmoplantar keratoderma2 recruitingDermatologicalView → EpignathusView → Epilepsy and/or ataxia with myoclonus as a major featureNeurologicalGroupView → Epilepsy of infancy with migrating focal seizuresNeurologicalView → Epilepsy syndromeNeurologicalGroupView → Epilepsy with auditory featuresNeurologicalView → Epilepsy with eyelid myoclonia1 recruitingNeurologicalView → Epilepsy with generalized tonic-clonic seizures aloneNeurologicalView → Epilepsy with myoclonic absencesNeurologicalView → Epilepsy with myoclonic-atonic seizuresNeurologicalView → Epilepsy with reading-induced seizuresNeurologicalView → Epilepsy-microcephaly-skeletal dysplasia syndromeNeurologicalView → Epilepsy-telangiectasia syndrome1 recruitingNeurologicalView → Epileptic encephalopathy with global cerebral demyelinationNeurologicalView → Epiphyseal dysplasia-hearing loss-dysmorphism syndromeView → Epiphyseal stippling-osteoclastic hyperplasia syndromeView → Epiphysiolysis of the hipView → Episodic ataxia type 13 recruitingNeurologicalView → Episodic ataxia type 31 recruitingNeurologicalView → Episodic ataxia type 41 recruitingNeurologicalView → Episodic ataxia type 52 recruitingNeurologicalView → Episodic ataxia type 62 recruitingNeurologicalView → Episodic ataxia type 71 recruitingNeurologicalView → Episodic ataxia with slurred speech1 recruitingNeurologicalView → Episodic memory defect leukoencephalopathy1 recruitingNeurologicalView → Epithelial basement membrane dystrophyView → Epithelial recurrent erosion dystrophyView → Epithelial tumor of anal canalGroupView → Epithelial tumor of the appendixGroupView → Epithelioid hemangioendothelioma7 recruitingView → Epithelioid hemangioma5 recruitingView → Epithelioid Sarcoma13 recruitingOncologyView → Epithelioid trophoblastic tumor1 recruitingView → Epstein syndrome18 recruitingView → Epstein-Barr Virus-associated carcinomaOncologyGroupView → Epstein-Barr virus-associated gastric carcinoma1 recruitingOncologyView → Epstein-Barr virus-associated malignant lymphoproliferative disorderGroupView → Epstein-Barr Virus-associated mesenchymal tumorGroupView → Epstein-Barr virus-positive diffuse large B-cell lymphoma12 recruitingBloodView → Epstein-Barr Virus-related tumorGroupView → Erdheim-Chester Disease10 recruitingNeurologicalView → Ermine phenotypeView → Erosive pustular dermatosis of the scalpView → Erythema elevatum diutinumView → Erythema multiforme major4 recruitingView → Erythema palmare hereditariumView → Erythrocyte galactose epimerase deficiencyView → Erythroderma desquamativumView → ErythrokeratodermaDermatologicalGroupView → Erythrokeratoderma ''en cocardes''1 recruitingDermatologicalView → Erythrokeratodermia variabilisView → Erythrokeratodermia-cardiomyopathy syndrome1 recruitingNeuromuscularView → Erythropoietic uroporphyria associated with myeloid malignancyBloodView → Esophageal atresia9 recruitingView → Esophageal malformationGroupView → Essential fructosuriaView → Essential iris atrophyView → Essential thrombocythemia48 recruitingView → Esthesioneuroblastoma10 recruitingOncologyView → Estrogen resistance syndromeView → Ethylene glycol poisoningView → Ethylmalonic encephalopathyNeurologicalView → EuryblepharonView → Euthyroid dysprealbuminemic hyperthyroxinemiaEndocrineView → Euthyroid Graves orbitopathyEndocrineView → Evans syndrome7 recruitingView → EVEN-plus syndromeView → Excess breast volume or numberGroupView → Exercise-induced hyperinsulinism2 recruitingView → Exercise-induced malignant hyperthermiaView → Exfoliative ichthyosisDermatologicalView → EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxityConnective TissueView → Exostoses-anetodermia-brachydactyly type E syndromeView → Exposure-related interstitial lung diseaseGroupView → Exstrophy-epispadias complexView → Extensor tendons of finger anomaliesView → External auditory canal aplasia/hypoplasiaView → External auditory canal atresia-vertical talus-hypertelorism syndromeView → Extracranial carotid artery aneurysmView → Extracutaneous mastocytomaView → Extragonadal germ cell tumorGroupView → Extragonadal germinoma1 recruitingView → Extragonadal teratoma2 recruitingView → Extralobar congenital pulmonary sequestrationRespiratoryView → Extramammary Paget disease10 recruitingView → Extramedullary conus spinal cord lipomaView → Extramedullary soft tissue plasmacytomaView → Extraneural perineuriomaView → Extranodal nasal NK/T cell lymphoma24 recruitingBloodView → Extrapelvic endometriosisView → Extraskeletal Ewing sarcomaOncologyView → Extraskeletal myxoid chondrosarcoma2 recruitingOncologyView → Extrasystoles-short stature-hyperpigmentation-microcephaly syndromeView → Extraventricular neurocytoma1 recruitingView → Eye defects-arachnodactyly-cardiopathy syndromeView → Eyebrow duplication-syndactyly syndromeView → Eyelid border anomalyGroupView → Eyelid sebaceous carcinoma1 recruitingOncologyView → OBSOLETE: Early infantile epileptic encephalopathy without suppression burstNeurologicalRetired termView → OBSOLETE: Early-onset schizophreniaRetired termView → OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndromeDermatologicalRetired termView → OBSOLETE: Ectodermal malformation syndrome associated with ocular featuresRetired termView → OBSOLETE: Ehlers-Danlos syndrome type 1Connective TissueRetired termView → OBSOLETE: Ehlers-Danlos syndrome type 2Connective TissueRetired termView → OBSOLETE: Ehlers-Danlos syndrome type 7AConnective TissueRetired termView → OBSOLETE: Ehlers-Danlos syndrome type 7BConnective TissueRetired termView → OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic typeConnective TissueRetired termView → OBSOLETE: Embryonary disorganization syndromeRetired termView → OBSOLETE: Endocrine myopathyNeuromuscularRetired termView → OBSOLETE: Envenomization by Bothrops lanceolatusRetired termView → OBSOLETE: Eosinophilic granulomaRetired termView → OBSOLETE: Epicanthal foldRetired termView → OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndromeRetired termView → OBSOLETE: Epidermolysis bullosa simplex superficialisDermatologicalRetired termView → OBSOLETE: Epimetaphyseal skeletal dysplasiaConnective TissueRetired termView → OBSOLETE: Epithelio-exfoliative colitis-deafness syndromeRetired termView → OBSOLETE: ErythromelalgiaRetired termView → OBSOLETE: Extensive peripapillary myelinated nerve fibersRetired termView → OBSOLETE: Eyebrow hypertrophyRetired termView → OBSOLETE: Eyebrow/eyelashes distichiasisRetired termView → OBSOLETE: Eyebrow/eyelashes hypertrichosisRetired termView → OBSOLETE: Eyebrow/eyelashes pigmentation anomalyRetired termView → OBSOLETE: Eyebrow/eyelashes structural anomalyRetired termView → OBSOLETE: Eyelashes hypertrophyRetired termView →