E - Health Conditions - Genetics Home Reference - NIH

E - Health Conditions - Genetics Home Reference - NIH

• 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