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
- 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 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 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 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 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
- 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
- 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
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