Health Conditions
Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
- 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 infantile epileptic encephalopathy, see X-linked infantile spasm syndrome
- early infantile epileptic encephalopathy 14, see malignant migrating partial seizures of infancy
- 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
- 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
- EIEE14, see malignant migrating partial seizures of infancy
- 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
- EMA, see glutaric acidemia type II
- Emanuel syndrome
- EME, see ethylmalonic encephalopathy
- Emery-Dreifuss muscular dystrophy
- Emery-Dreifuss Syndrome, see Emery-Dreifuss muscular dystrophy
- encephalocraniocutaneous lipomatosis
- encephalopathy due to GLUT1 deficiency, see GLUT1 deficiency syndrome
- encephalopathy with basal ganglia calcification, see Aicardi-Goutieres 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's 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
- entrapment neuropathy, see hereditary neuropathy with liability to pressure palsies
- 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
- 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
- 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 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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