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EA see episodic ataxia
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EA/TEF see esophageal atresia/tracheoesophageal fistula
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EAC see multiple familial trichoepithelioma
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EAOH see ataxia with oculomotor apraxia
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Ear Disorders
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early infantile epileptic encephalopathy see X-linked infantile spasm syndrome
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early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
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Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
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Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
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early-onset glaucoma
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early-onset myopathy with fatal cardiomyopathy see Salih myopathy
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early-onset primary dystonia
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early-onset sarcoidosis see Blau syndrome
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EB-PA see epidermolysis bullosa with pyloric atresia
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EBS see epidermolysis bullosa simplex
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Ectodermal Dysplasia
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Ectopic Ossification see progressive osseous heteroplasia
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Eczema
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eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
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EDM1 see multiple epiphyseal dysplasia
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EDM2 see multiple epiphyseal dysplasia
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EDM3 see multiple epiphyseal dysplasia
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EDM4 see multiple epiphyseal dysplasia
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EDM5 see multiple epiphyseal dysplasia
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EDMD see Emery-Dreifuss muscular dystrophy
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EDS see Ehlers-Danlos syndrome
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Edstrom myopathy see hereditary myopathy with early respiratory failure
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Edwards syndrome see trisomy 18
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EHK see epidermolytic hyperkeratosis
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Ehlers-Danlos syndrome
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Electron transfer flavoprotein deficiency see glutaric acidemia type II
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Elevated cholesterol see hypercholesterolemia
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Elfin Facies Syndrome see Williams syndrome
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Elfin facies with hypercalcemia see Williams syndrome
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Ellis-van Creveld syndrome
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EMA see glutaric acidemia type II
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Emanuel syndrome
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EME see ethylmalonic encephalopathy
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Emery-Dreifuss muscular dystrophy
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EMG syndrome see Beckwith-Wiedemann syndrome
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Emphysema see alpha-1 antitrypsin deficiency
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encephalopathy due to GLUT1 deficiency see GLUT1 deficiency syndrome
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Encephalopathy, petechiae, and ethylmalonic aciduria see ethylmalonic encephalopathy
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encephalopathy with basal ganglia calcification see Aicardi-Goutieres syndrome
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enchondromatosis with hemangiomata see Maffucci syndrome
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Endocrine Diseases
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Endocrine Neoplasia, Multiple see multiple endocrine neoplasia
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Engelmann's Disease see Camurati-Engelmann disease
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enlarged parietal foramina
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enteric neuropathy see intestinal pseudo-obstruction
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Enteritis, Granulomatous see Crohn disease
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Enteritis, Regional see Crohn disease
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entrapment neuropathy see hereditary neuropathy with liability to pressure palsies
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Eosinophilic Disorders
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EPD see pyridoxine-dependent epilepsy
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EPEMA syndrome see ethylmalonic encephalopathy
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epidermal nevus
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Epidermolysis Bullosa
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Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
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Epidermolysis Bullosa Dystrophica see dystrophic epidermolysis bullosa
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Epidermolysis Bullosa, Junctional see junctional epidermolysis bullosa
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epidermolysis bullosa simplex
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epidermolysis bullosa with pyloric atresia
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epidermolytic hyperkeratosis
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Epilepsies, Partial
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Epilepsy
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Epilepsy, Frontal Lobe see autosomal dominant nocturnal frontal lobe epilepsy
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Epilepsy, partial, with auditory features see autosomal dominant partial epilepsy with auditory features
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epilepsy, progressive myoclonic, Lafora see Lafora progressive myoclonus epilepsy
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epilepsy, pyridoxine-dependent see pyridoxine-dependent epilepsy
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Epiloia see tuberous sclerosis complex
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Epimerase deficiency galactosemia see galactosemia
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Epiphyseal dysplasia, Fairbank type see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 1 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 2 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 3 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 4 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, multiple, 5 see multiple epiphyseal dysplasia
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Epiphyseal dysplasia, Ribbing type see multiple epiphyseal dysplasia
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Episkopi blindness see Norrie disease
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episodic ataxia
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epithelioma adenoides cysticum of Brooke see multiple familial trichoepithelioma
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EPM1 see Unverricht-Lundborg disease
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EPM1B see PRICKLE1-related progressive myoclonus epilepsy with ataxia
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Epstein-Barr virus-induced lymphoproliferative disease in males see X-linked lymphoproliferative disease
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erythermalgia see erythromelalgia
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erythroblastic anemia see beta thalassemia
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erythrogenesis imperfecta see Diamond-Blackfan anemia
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Erythroid 5-aminolevulinate synthase deficiency see X-linked sideroblastic anemia
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erythromelalgia
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Escobar syndrome see multiple pterygium syndrome
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Esophageal Atresia see esophageal atresia/tracheoesophageal fistula
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esophageal atresia/tracheoesophageal fistula
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Esophagus Disorders
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essential blepharospasm see benign essential blepharospasm
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essential thrombocythemia
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essential tremor
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ETFA deficiency see glutaric acidemia type II
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ETFB deficiency see glutaric acidemia type II
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ETFDH deficiency see glutaric acidemia type II
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Ethylmalonic-adipicaciduria see glutaric acidemia type II
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ethylmalonic encephalopathy
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ETL1 see autosomal dominant partial epilepsy with auditory features
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Eulenburg Disease see paramyotonia congenita
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Ewing sarcoma
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exercise-induced myopathy see adenosine monophosphate deaminase deficiency
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Exomphalos-Macroglossia-Gigantism Syndrome see Beckwith-Wiedemann syndrome
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exostoses, multiple hereditary see hereditary multiple exostoses
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Eye Cancer see retinoblastoma
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Eye Diseases
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Eye Diseases, Hereditary
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Eye Movement Disorders
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Eyelid Disorders
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eyelid twitching see benign essential blepharospasm
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