Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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 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 26, see KCNB1 encephalopathy
• Early infantile epileptic encephalopathy-1, see Developmental and epileptic encephalopathy 1
• Early-infantile epileptic encephalopathy 4, see STXBP1 encephalopathy
• 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 isolated dystonia
• Early-onset glaucoma
• Early-onset isolated dystonia
• Early-onset myopathy with fatal cardiomyopathy
• Early-onset primary dystonia, see Early-onset isolated 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 Developmental and 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
• EIEE26, see KCNB1 encephalopathy
• EIEE27, see GRIN2B-related neurodevelopmental disorder
• EIEE4, see STXBP1 encephalopathy
• 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 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's disease
• Enteritis, regional, see Crohn's 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 with continuous spike-wave in sleep, see Epilepsy-aphasia spectrum
• Epilepsy with electrographic status epilepticus in sleep, see Epilepsy-aphasia spectrum
• Epilepsy, partial, with auditory features, see Autosomal dominant 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 Developmental and 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, 26, see KCNB1 encephalopathy
• Epileptic encephalopathy, early infantile, 27, see GRIN2B-related neurodevelopmental disorder
• 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 Progressive myoclonic epilepsy type 1
• EPM1A, see Progressive myoclonic epilepsy type 1
• 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 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
• 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