Genetic diseases-E

• E-cadherin-associated hereditary gastric cancer see Hereditary diffuse gastric cancer
• E3 deficiency see Dihydrolipoamide dehydrogenase deficiency
• EA see Episodic ataxia
• EA/TEF see Esophageal atresia/tracheoesophageal fistula
• EAC see Multiple familial trichoepithelioma
• EAOH see Ataxia with oculomotor apraxia
• ear, patella, short stature syndrome see Meier-Gorlin syndrome
• early fatal progressive hepatoencephalopathy see Combined oxidative phosphorylation deficiency 1
• Early infantile epileptic encephalopathy 1
• early infantile epileptic encephalopathy 13 see SCN8A-related epilepsy with encephalopathy
• early infantile epileptic encephalopathy 14 see Malignant migrating partial seizures of infancy
• early infantile epileptic encephalopathy 2 see CDKL5 deficiency disorder
• early infantile epileptic encephalopathy-1 see Early infantile epileptic encephalopathy 1
• early-infantile epileptic encephalopathy 4 see STXBP1 encephalopathy with epilepsy
• early-onset ataxia with ocular motor apraxia and hypoalbuminemia see Ataxia with oculomotor apraxia
• Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see Holocarboxylase synthetase deficiency
• Early-Onset Combined Carboxylase Deficiency see Holocarboxylase synthetase deficiency
• Early-onset generalized torsion dystonia see Early-onset primary dystonia
• Early-onset glaucoma
• Early-onset myopathy with fatal cardiomyopathy
• Early-onset primary dystonia
• early-onset sarcoidosis see Blau syndrome
• EB-PA see Epidermolysis bullosa with pyloric atresia
• EBS see Epidermolysis bullosa simplex
• ECCL see Encephalocraniocutaneous lipomatosis
• ECTD2 see Clouston syndrome
• ectodermal dysplasia 2, Clouston type see Clouston syndrome
• ectodermal dysplasia, hypohidrotic, with immune deficiency see Anhidrotic ectodermal dysplasia with immune deficiency
• ectopia lentis see Isolated ectopia lentis
• ectopic ossification see Progressive osseous heteroplasia
• ectropion, inferior, with cleft lip and/or palate see Blepharocheilodontic syndrome
• eczema-thrombocytopenia-immunodeficiency syndrome see Wiskott-Aldrich syndrome
• EDA-ID see Anhidrotic ectodermal dysplasia with immune deficiency
• EDM1 see Multiple epiphyseal dysplasia
• EDM2 see Multiple epiphyseal dysplasia
• EDM3 see Multiple epiphyseal dysplasia
• EDM4 see Multiple epiphyseal dysplasia
• EDM5 see Multiple epiphyseal dysplasia
• EDMD see Emery-Dreifuss muscular dystrophy
• EDS see Ehlers-Danlos syndrome
• Edstrom myopathy see Hereditary myopathy with early respiratory failure
• Edwards syndrome see Trisomy 18
• EHK see Epidermolytic hyperkeratosis
• Ehlers Danlos disease see Ehlers-Danlos syndrome
• Ehlers-Danlos syndrome
• EIEE1 see Early infantile epileptic encephalopathy 1
• EIEE10 see Microcephaly, seizures, and developmental delay
• EIEE13 see SCN8A-related epilepsy with encephalopathy
• EIEE14 see Malignant migrating partial seizures of infancy
• EIEE22 see SLC35A2-congenital disorder of glycosylation
• EIEE27 see GRIN2B-related neurodevelopmental disorder
• EIEE4 see STXBP1 encephalopathy with epilepsy
• Ekbom syndrome see Restless legs syndrome
• Ekbom's syndrome see Restless legs syndrome
• EKV see Erythrokeratodermia variabilis et progressiva
• EKV-P see Erythrokeratodermia variabilis et progressiva
• EKVP see Erythrokeratodermia variabilis et progressiva
• electron transfer flavoprotein deficiency see Glutaric acidemia type II
• Elevated cholesterol see Hypercholesterolemia
• elevated serum CPK see Isolated hyperCKemia
• elevated serum creatine phosphokinase see Isolated hyperCKemia
• elfin facies syndrome see Williams syndrome
• elfin facies with hypercalcemia see Williams syndrome
• Ellis-van Creveld dysplasia see Ellis-van Creveld syndrome
• Ellis-van Creveld syndrome
• Elschnig syndrome see Blepharocheilodontic syndrome
• EMA see Glutaric acidemia type II
• Emanuel syndrome
• embryonal adenosarcoma see Wilms tumor
• embryonal nephroma see Wilms tumor
• Emery-Dreifuss muscular dystrophy
• Emery-Dreifuss syndrome see Emery-Dreifuss muscular dystrophy
• Encephalocraniocutaneous lipomatosis
• encephalofacial hemangiomatosis see Sturge-Weber syndrome
• encephalofacial hemangiomatosis syndrome see Sturge-Weber syndrome
• encephalopathy due to GLUT1 deficiency see GLUT1 deficiency syndrome
• encephalopathy due to sulfite oxidase deficiency see Isolated sulfite oxidase deficiency
• encephalopathy with basal ganglia calcification see Aicardi-Goutières syndrome
• encephalopathy, petechiae, and ethylmalonic aciduria see Ethylmalonic encephalopathy
• enchondromatosis see Ollier disease
• enchondromatosis with hemangiomata see Maffucci syndrome
• enchondromatosis, multiple, Ollier type see Ollier disease
• endocrine neoplasia, multiple see Multiple endocrine neoplasia
• endogenous hypertriglyceridaemia see Familial lipoprotein lipase deficiency
• Engelmann disease see Camurati-Engelmann disease
• Enlarged parietal foramina
• enteric neuropathy see Intestinal pseudo-obstruction
• enteritis, granulomatous see Crohn disease
• enteritis, regional see Crohn disease
• enterocyte cobalamin malabsorption see Imerslund-Gräsbeck syndrome
• enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
• entrapment neuropathy see Hereditary neuropathy with liability to pressure palsies
• entrapment neuropathy, carpal tunnel see Carpal tunnel syndrome
• EOMFC see Early-onset myopathy with fatal cardiomyopathy
• Eosinophil peroxidase deficiency
• EPD see Pyridoxine-dependent epilepsy
• EPEMA syndrome see Ethylmalonic encephalopathy
• epidermal naevus see Epidermal nevus
• Epidermal nevus
• Epidermolysis Bullosa Dystrophica see Dystrophic epidermolysis bullosa
• Epidermolysis bullosa simplex
• Epidermolysis bullosa with pyloric atresia
• Epidermolysis Bullosa, Dystrophic see Dystrophic epidermolysis bullosa
• epidermolysis bullosa, junctional see Junctional epidermolysis bullosa
• Epidermolytic hyperkeratosis
• epidermolytic ichthyosis see Epidermolytic hyperkeratosis
• epilepsy syndrome, infantile-onset symptomatic see GM3 synthase deficiency
• Epilepsy, partial, with auditory features see Autosomal dominant partial epilepsy with auditory features
• epilepsy, progressive myoclonic 4, with or without renal failure see Action myoclonus–renal failure syndrome
• epilepsy, progressive myoclonic, Lafora see Lafora progressive myoclonus epilepsy
• epilepsy, pyridoxine-dependent see Pyridoxine-dependent epilepsy
• Epilepsy-aphasia spectrum
• epileptic encephalopathy, early infantile, 1 see Early infantile epileptic encephalopathy 1
• epileptic encephalopathy, early infantile, 10 see Microcephaly, seizures, and developmental delay
• epileptic encephalopathy, early infantile, 22 see SLC35A2-congenital disorder of glycosylation
• epileptic encephalopathy, early infantile, 27 see GRIN2B-related neurodevelopmental disorder
• epiloia see Tuberous sclerosis complex
• epimerase deficiency galactosemia see Galactosemia
• epiphyseal dysplasia, Fairbank type see Multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 1 see Multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 2 see Multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 3 see Multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 4 see Multiple epiphyseal dysplasia
• epiphyseal dysplasia, multiple, 5 see Multiple epiphyseal dysplasia
• epiphyseal dysplasia, Ribbing type see Multiple epiphyseal dysplasia
• Episkopi blindness see Norrie disease
• Episodic ataxia
• episodic kinesigenic dyskinesia see Familial paroxysmal kinesigenic dyskinesia
• epithelioma adenoides cysticum of Brooke see Multiple familial trichoepithelioma
• EPM1 see Unverricht-Lundborg disease
• EPM1B see PRICKLE1-related progressive myoclonus epilepsy with ataxia
• EPM4 see Action myoclonus–renal failure syndrome
• Epstein-Barr virus-induced lymphoproliferative disease in males see X-linked lymphoproliferative disease
• EPXD see Eosinophil peroxidase deficiency
• Erdheim-Chester disease
• Eronen syndrome see DOORS syndrome
• erythematotelangiectatic rosacea see Rosacea
• erythermalgia see Erythromelalgia
• erythroblastic anemia see Beta thalassemia
• erythrogenesis imperfecta see Diamond-Blackfan anemia
• Erythroid 5-aminolevulinate synthase deficiency see X-linked sideroblastic anemia
• erythrokeratodermia variabilis see Erythrokeratodermia variabilis et progressiva
• Erythrokeratodermia variabilis et progressiva
• erythrokeratodermia variabilis of Mendes da Costa see Erythrokeratodermia variabilis et progressiva
• erythrokeratodermia, progressive symmetric see Erythrokeratodermia variabilis et progressiva
• Erythromelalgia
• Escobar syndrome see Multiple pterygium syndrome
• Esophageal atresia/tracheoesophageal fistula
• essential benign pentosuria see Essential pentosuria
• essential blepharospasm see Benign essential blepharospasm
• essential hypertension see Hypertension
• Essential pentosuria
• Essential thrombocythemia
• essential thrombocytosis see Essential thrombocythemia
• Essential tremor
• estrogen synthetase deficiency see Aromatase deficiency
• ETFA deficiency see Glutaric acidemia type II
• ETFB deficiency see Glutaric acidemia type II
• ETFDH deficiency see Glutaric acidemia type II
• Ethylmalonic encephalopathy
• ethylmalonic-adipicaciduria see Glutaric acidemia type II
• ETL1 see Autosomal dominant partial epilepsy with auditory features
• Eulenburg disease see Paramyotonia congenita
• Ewing family of tumors see Ewing sarcoma
• Ewing sarcoma
• Ewing tumor see Ewing sarcoma
• Ewing's sarcoma see Ewing sarcoma
• Ewing's tumor see Ewing sarcoma
• exercise-induced myopathy see Adenosine monophosphate deaminase deficiency
• exophthalmic goiter see Graves disease
• exostoses, multiple hereditary see Hereditary multiple osteochondromas
• extrahepatic cholangiocarcinoma see Cholangiocarcinoma
• extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia see Woodhouse-Sakati syndrome
• extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal insulin receptors see Type A insulin resistance syndrome
• extrinsic asthma see Allergic asthma
• eyelid twitching see Benign essential blepharospasm