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 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 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