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<span>Genetic Conditions: E</span>
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<h1>Genetic Conditions: E</h1>
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<p>Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.</p>
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<span class='blue-label'>Other genetic conditions A-Z</span>
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<ul class="alpha-links">
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<li><a href="https://medlineplus.gov/genetics/condition-0/" data-alpha="0-9">0-9</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition/" data-alpha="A">A</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-b/" data-alpha="B">B</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-c/" data-alpha="C">C</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-d/" data-alpha="D">D</a></li>
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<li><span class="active">E</span></li>
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<li><a href="https://medlineplus.gov/genetics/condition-f/" data-alpha="F">F</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-g/" data-alpha="G">G</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-h/" data-alpha="H">H</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-i/" data-alpha="I">I</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-j/" data-alpha="J">J</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-k/" data-alpha="K">K</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-l/" data-alpha="L">L</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-m/" data-alpha="M">M</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-n/" data-alpha="N">N</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-o/" data-alpha="O">O</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-p/" data-alpha="P">P</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-q/" data-alpha="Q">Q</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-r/" data-alpha="R">R</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-s/" data-alpha="S">S</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-t/" data-alpha="T">T</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-u/" data-alpha="U">U</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-v/" data-alpha="V">V</a></li>
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||
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<li><a href="https://medlineplus.gov/genetics/condition-w/" data-alpha="W">W</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-x/" data-alpha="X">X</a></li>
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<li><a href="https://medlineplus.gov/genetics/condition-y/" data-alpha="Y">Y</a></li>
|
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<li><a href="https://medlineplus.gov/genetics/condition-z/" data-alpha="Z">Z</a></li>
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</ul>
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</div>
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</section>
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<section>
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||
|
||
<ul class="withident breaklist">
|
||
|
||
<li>E-cadherin-associated hereditary gastric cancer, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-diffuse-gastric-cancer/">Hereditary diffuse gastric cancer</a></li>
|
||
|
||
|
||
<li>E3 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dihydrolipoamide-dehydrogenase-deficiency/">Dihydrolipoamide dehydrogenase deficiency</a></li>
|
||
|
||
|
||
<li>EA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/episodic-ataxia/">Episodic ataxia</a></li>
|
||
|
||
|
||
<li>EA/TEF, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/">Esophageal atresia/tracheoesophageal fistula</a></li>
|
||
|
||
|
||
<li>EAC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-familial-trichoepithelioma/">Multiple familial trichoepithelioma</a></li>
|
||
|
||
|
||
<li>EAOH, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/">Ataxia with oculomotor apraxia</a></li>
|
||
|
||
|
||
<li>Ear, patella, short stature syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/">Meier-Gorlin syndrome</a></li>
|
||
|
||
|
||
<li>Early fatal progressive hepatoencephalopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/combined-oxidative-phosphorylation-deficiency-1/">Combined oxidative phosphorylation deficiency 1</a></li>
|
||
|
||
|
||
<li>Early infantile epileptic encephalopathy 13, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/scn8a-related-epilepsy-with-encephalopathy/">SCN8A-related epilepsy with encephalopathy</a></li>
|
||
|
||
|
||
<li>Early infantile epileptic encephalopathy 14, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy/">Malignant migrating partial seizures of infancy</a></li>
|
||
|
||
|
||
<li>Early infantile epileptic encephalopathy 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/">CDKL5 deficiency disorder</a></li>
|
||
|
||
|
||
<li>Early infantile epileptic encephalopathy 26, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy/">KCNB1 encephalopathy</a></li>
|
||
|
||
|
||
<li>Early infantile epileptic encephalopathy-1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/developmental-and-epileptic-encephalopathy-1/">Developmental and epileptic encephalopathy 1</a></li>
|
||
|
||
|
||
<li>Early-infantile epileptic encephalopathy 4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy/">STXBP1 encephalopathy</a></li>
|
||
|
||
|
||
<li>Early-onset ataxia with ocular motor apraxia and hypoalbuminemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ataxia-with-oculomotor-apraxia/">Ataxia with oculomotor apraxia</a></li>
|
||
|
||
|
||
<li>Early-onset biotin-responsive multiple carboxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency/">Holocarboxylase synthetase deficiency</a></li>
|
||
|
||
|
||
<li>Early-onset combined carboxylase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/holocarboxylase-synthetase-deficiency/">Holocarboxylase synthetase deficiency</a></li>
|
||
|
||
|
||
<li>Early-onset generalized torsion dystonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/">Early-onset isolated dystonia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/early-onset-glaucoma/">Early-onset glaucoma</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/">Early-onset isolated dystonia</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy/">Early-onset myopathy with fatal cardiomyopathy</a></li>
|
||
|
||
<li>Early-onset primary dystonia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/early-onset-isolated-dystonia/">Early-onset isolated dystonia</a></li>
|
||
|
||
|
||
<li>Early-onset sarcoidosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/blau-syndrome/">Blau syndrome</a></li>
|
||
|
||
|
||
<li>EB-PA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia/">Epidermolysis bullosa with pyloric atresia</a></li>
|
||
|
||
|
||
<li>EBS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-simplex/">Epidermolysis bullosa simplex</a></li>
|
||
|
||
|
||
<li>ECCL, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/encephalocraniocutaneous-lipomatosis/">Encephalocraniocutaneous lipomatosis</a></li>
|
||
|
||
|
||
<li>ECTD2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clouston-syndrome/">Clouston syndrome</a></li>
|
||
|
||
|
||
<li>Ectodermal dysplasia 2, Clouston type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/clouston-syndrome/">Clouston syndrome</a></li>
|
||
|
||
|
||
<li>Ectodermal dysplasia, hypohidrotic, with immune deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/">Anhidrotic ectodermal dysplasia with immune deficiency</a></li>
|
||
|
||
|
||
<li>Ectopia lentis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis/">Isolated ectopia lentis</a></li>
|
||
|
||
|
||
<li>Ectopic ossification, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia/">Progressive osseous heteroplasia</a></li>
|
||
|
||
|
||
<li>Ectropion, inferior, with cleft lip and/or palate, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome/">Blepharocheilodontic syndrome</a></li>
|
||
|
||
|
||
<li>Eczema-thrombocytopenia-immunodeficiency syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome/">Wiskott-Aldrich syndrome</a></li>
|
||
|
||
|
||
<li>EDA-ID, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/">Anhidrotic ectodermal dysplasia with immune deficiency</a></li>
|
||
|
||
|
||
<li>EDM1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>EDM2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>EDM3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>EDM4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>EDM5, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>EDMD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy/">Emery-Dreifuss muscular dystrophy</a></li>
|
||
|
||
|
||
<li>EDS, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/">Ehlers-Danlos syndrome</a></li>
|
||
|
||
|
||
<li>Edstrom myopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-myopathy-with-early-respiratory-failure/">Hereditary myopathy with early respiratory failure</a></li>
|
||
|
||
|
||
<li>Edwards syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/trisomy-18/">Trisomy 18</a></li>
|
||
|
||
|
||
<li>EHK, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/">Epidermolytic hyperkeratosis</a></li>
|
||
|
||
|
||
<li>Ehlers Danlos disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/">Ehlers-Danlos syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/">Ehlers-Danlos syndrome</a></li>
|
||
|
||
<li>EIEE1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/developmental-and-epileptic-encephalopathy-1/">Developmental and epileptic encephalopathy 1</a></li>
|
||
|
||
|
||
<li>EIEE10, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/microcephaly-seizures-and-developmental-delay/">Microcephaly, seizures, and developmental delay</a></li>
|
||
|
||
|
||
<li>EIEE13, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/scn8a-related-epilepsy-with-encephalopathy/">SCN8A-related epilepsy with encephalopathy</a></li>
|
||
|
||
|
||
<li>EIEE14, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/malignant-migrating-partial-seizures-of-infancy/">Malignant migrating partial seizures of infancy</a></li>
|
||
|
||
|
||
<li>EIEE22, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>EIEE26, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy/">KCNB1 encephalopathy</a></li>
|
||
|
||
|
||
<li>EIEE27, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder/">GRIN2B-related neurodevelopmental disorder</a></li>
|
||
|
||
|
||
<li>EIEE4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy/">STXBP1 encephalopathy</a></li>
|
||
|
||
|
||
<li>Ekbom syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/restless-legs-syndrome/">Restless legs syndrome</a></li>
|
||
|
||
|
||
<li>Ekbom's syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/restless-legs-syndrome/">Restless legs syndrome</a></li>
|
||
|
||
|
||
<li>EKV, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
|
||
|
||
|
||
<li>EKV-P, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
|
||
|
||
|
||
<li>EKVP, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
|
||
|
||
|
||
<li>Electron transfer flavoprotein deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/">Glutaric acidemia type II</a></li>
|
||
|
||
|
||
<li>Elevated serum CPK, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-hyperckemia/">Isolated hyperCKemia</a></li>
|
||
|
||
|
||
<li>Elevated serum creatine phosphokinase, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-hyperckemia/">Isolated hyperCKemia</a></li>
|
||
|
||
|
||
<li>Elfin facies syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/williams-syndrome/">Williams syndrome</a></li>
|
||
|
||
|
||
<li>Elfin facies with hypercalcemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/williams-syndrome/">Williams syndrome</a></li>
|
||
|
||
|
||
<li>Ellis-van Creveld dysplasia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome/">Ellis-van Creveld syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome/">Ellis-van Creveld syndrome</a></li>
|
||
|
||
<li>Elschnig syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/blepharocheilodontic-syndrome/">Blepharocheilodontic syndrome</a></li>
|
||
|
||
|
||
<li>EMA, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/">Glutaric acidemia type II</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/emanuel-syndrome/">Emanuel syndrome</a></li>
|
||
|
||
<li>Embryonal adenosarcoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wilms-tumor/">Wilms tumor</a></li>
|
||
|
||
|
||
<li>Embryonal nephroma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/wilms-tumor/">Wilms tumor</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy/">Emery-Dreifuss muscular dystrophy</a></li>
|
||
|
||
<li>Emery-Dreifuss syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/emery-dreifuss-muscular-dystrophy/">Emery-Dreifuss muscular dystrophy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/encephalocraniocutaneous-lipomatosis/">Encephalocraniocutaneous lipomatosis</a></li>
|
||
|
||
<li>Encephalofacial hemangiomatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/">Sturge-Weber syndrome</a></li>
|
||
|
||
|
||
<li>Encephalofacial hemangiomatosis syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/">Sturge-Weber syndrome</a></li>
|
||
|
||
|
||
<li>Encephalopathy due to GLUT1 deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome/">GLUT1 deficiency syndrome</a></li>
|
||
|
||
|
||
<li>Encephalopathy due to sulfite oxidase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/isolated-sulfite-oxidase-deficiency/">Isolated sulfite oxidase deficiency</a></li>
|
||
|
||
|
||
<li>Encephalopathy with basal ganglia calcification, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aicardi-goutieres-syndrome/">Aicardi-Goutières syndrome</a></li>
|
||
|
||
|
||
<li>Encephalopathy, petechiae, and ethylmalonic aciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy/">Ethylmalonic encephalopathy</a></li>
|
||
|
||
|
||
<li>Enchondromatosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ollier-disease/">Ollier disease</a></li>
|
||
|
||
|
||
<li>Enchondromatosis with hemangiomata, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/maffucci-syndrome/">Maffucci syndrome</a></li>
|
||
|
||
|
||
<li>Enchondromatosis, multiple, Ollier type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ollier-disease/">Ollier disease</a></li>
|
||
|
||
|
||
<li>Endocrine neoplasia, multiple, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-endocrine-neoplasia/">Multiple endocrine neoplasia</a></li>
|
||
|
||
|
||
<li>Endogenous hypertriglyceridaemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-lipoprotein-lipase-deficiency/">Familial lipoprotein lipase deficiency</a></li>
|
||
|
||
|
||
<li>Engelmann disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/">Camurati-Engelmann disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/">Enlarged parietal foramina</a></li>
|
||
|
||
<li>Enteric neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/intestinal-pseudo-obstruction/">Intestinal pseudo-obstruction</a></li>
|
||
|
||
|
||
<li>Enteritis, granulomatous, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crohns-disease/">Crohn's disease</a></li>
|
||
|
||
|
||
<li>Enteritis, regional, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/crohns-disease/">Crohn's disease</a></li>
|
||
|
||
|
||
<li>Enterocyte cobalamin malabsorption, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome/">Imerslund-Gräsbeck syndrome</a></li>
|
||
|
||
|
||
<li>Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome/">Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome</a></li>
|
||
|
||
|
||
<li>Entrapment neuropathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-neuropathy-with-liability-to-pressure-palsies/">Hereditary neuropathy with liability to pressure palsies</a></li>
|
||
|
||
|
||
<li>Entrapment neuropathy, carpal tunnel, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/carpal-tunnel-syndrome/">Carpal tunnel syndrome</a></li>
|
||
|
||
|
||
<li>EOMFC, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy/">Early-onset myopathy with fatal cardiomyopathy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency/">Eosinophil peroxidase deficiency</a></li>
|
||
|
||
<li>EPD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
|
||
|
||
|
||
<li>EPEMA syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy/">Ethylmalonic encephalopathy</a></li>
|
||
|
||
|
||
<li>Epidermal naevus, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epidermal-nevus/">Epidermal nevus</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/epidermal-nevus/">Epidermal nevus</a></li>
|
||
|
||
<li>Epidermolysis bullosa dystrophica, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa/">Dystrophic epidermolysis bullosa</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-simplex/">Epidermolysis bullosa simplex</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-with-pyloric-atresia/">Epidermolysis bullosa with pyloric atresia</a></li>
|
||
|
||
<li>Epidermolysis bullosa, dystrophic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa/">Dystrophic epidermolysis bullosa</a></li>
|
||
|
||
|
||
<li>Epidermolysis bullosa, junctional, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa/">Junctional epidermolysis bullosa</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/">Epidermolytic hyperkeratosis</a></li>
|
||
|
||
<li>Epidermolytic ichthyosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/">Epidermolytic hyperkeratosis</a></li>
|
||
|
||
|
||
<li>Epilepsy syndrome, infantile-onset symptomatic, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency/">GM3 synthase deficiency</a></li>
|
||
|
||
|
||
<li>Epilepsy with continuous spike-wave in sleep, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/">Epilepsy-aphasia spectrum</a></li>
|
||
|
||
|
||
<li>Epilepsy with electrographic status epilepticus in sleep, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/">Epilepsy-aphasia spectrum</a></li>
|
||
|
||
|
||
<li>Epilepsy, partial, with auditory features, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
|
||
|
||
|
||
<li>Epilepsy, progressive myoclonic 4, with or without renal failure, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonus–renal failure syndrome</a></li>
|
||
|
||
|
||
<li>Epilepsy, progressive myoclonic, Lafora, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/lafora-progressive-myoclonus-epilepsy/">Lafora progressive myoclonus epilepsy</a></li>
|
||
|
||
|
||
<li>Epilepsy, pyridoxine-dependent, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/">Pyridoxine-dependent epilepsy</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/epilepsy-aphasia-spectrum/">Epilepsy-aphasia spectrum</a></li>
|
||
|
||
<li>Epileptic encephalopathy, early infantile, 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/developmental-and-epileptic-encephalopathy-1/">Developmental and epileptic encephalopathy 1</a></li>
|
||
|
||
|
||
<li>Epileptic encephalopathy, early infantile, 10, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/microcephaly-seizures-and-developmental-delay/">Microcephaly, seizures, and developmental delay</a></li>
|
||
|
||
|
||
<li>Epileptic encephalopathy, early infantile, 22, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/slc35a2-congenital-disorder-of-glycosylation/">SLC35A2-congenital disorder of glycosylation</a></li>
|
||
|
||
|
||
<li>Epileptic encephalopathy, early infantile, 26, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/kcnb1-encephalopathy/">KCNB1 encephalopathy</a></li>
|
||
|
||
|
||
<li>Epileptic encephalopathy, early infantile, 27, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/grin2b-related-neurodevelopmental-disorder/">GRIN2B-related neurodevelopmental disorder</a></li>
|
||
|
||
|
||
<li>Epimerase deficiency galactosemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/galactosemia/">Galactosemia</a></li>
|
||
|
||
|
||
<li>Epiphyseal dysplasia, Fairbank type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Epiphyseal dysplasia, multiple, 1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Epiphyseal dysplasia, multiple, 2, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Epiphyseal dysplasia, multiple, 3, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Epiphyseal dysplasia, multiple, 4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Epiphyseal dysplasia, multiple, 5, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Epiphyseal dysplasia, Ribbing type, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia/">Multiple epiphyseal dysplasia</a></li>
|
||
|
||
|
||
<li>Episkopi blindness, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/norrie-disease/">Norrie disease</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/episodic-ataxia/">Episodic ataxia</a></li>
|
||
|
||
<li>Episodic kinesigenic dyskinesia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/familial-paroxysmal-kinesigenic-dyskinesia/">Familial paroxysmal kinesigenic dyskinesia</a></li>
|
||
|
||
|
||
<li>Epithelioma adenoides cysticum of Brooke, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-familial-trichoepithelioma/">Multiple familial trichoepithelioma</a></li>
|
||
|
||
|
||
<li>EPM1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/">Progressive myoclonic epilepsy type 1 </a></li>
|
||
|
||
|
||
<li>EPM1A, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/progressive-myoclonic-epilepsy-type-1/">Progressive myoclonic epilepsy type 1 </a></li>
|
||
|
||
|
||
<li>EPM1B, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/prickle1-related-progressive-myoclonus-epilepsy-with-ataxia/">PRICKLE1-related progressive myoclonus epilepsy with ataxia</a></li>
|
||
|
||
|
||
<li>EPM4, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/action-myoclonus-renal-failure-syndrome/">Action myoclonus–renal failure syndrome</a></li>
|
||
|
||
|
||
<li>Epstein-Barr virus-induced lymphoproliferative disease in males, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-lymphoproliferative-disease/">X-linked lymphoproliferative disease</a></li>
|
||
|
||
|
||
<li>EPXD, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/eosinophil-peroxidase-deficiency/">Eosinophil peroxidase deficiency</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/erdheim-chester-disease/">Erdheim-Chester disease</a></li>
|
||
|
||
<li>Eronen syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/doors-syndrome/">DOORS syndrome</a></li>
|
||
|
||
|
||
<li>Erythematotelangiectatic rosacea, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/rosacea/">Rosacea</a></li>
|
||
|
||
|
||
<li>Erythermalgia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythromelalgia/">Erythromelalgia</a></li>
|
||
|
||
|
||
<li>Erythroblastic anemia, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/beta-thalassemia/">Beta thalassemia</a></li>
|
||
|
||
|
||
<li>Erythrogenesis imperfecta, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia/">Diamond-Blackfan anemia</a></li>
|
||
|
||
|
||
<li>Erythroid 5-aminolevulinate synthase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia/">X-linked sideroblastic anemia</a></li>
|
||
|
||
|
||
<li>Erythrokeratodermia variabilis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
|
||
|
||
<li>Erythrokeratodermia variabilis of Mendes da Costa, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
|
||
|
||
|
||
<li>Erythrokeratodermia, progressive symmetric, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/erythrokeratodermia-variabilis-et-progressiva/">Erythrokeratodermia variabilis et progressiva</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/erythromelalgia/">Erythromelalgia</a></li>
|
||
|
||
<li>Escobar syndrome, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/multiple-pterygium-syndrome/">Multiple pterygium syndrome</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/">Esophageal atresia/tracheoesophageal fistula</a></li>
|
||
|
||
<li>Essential benign pentosuria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/essential-pentosuria/">Essential pentosuria</a></li>
|
||
|
||
|
||
<li>Essential blepharospasm, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/benign-essential-blepharospasm/">Benign essential blepharospasm</a></li>
|
||
|
||
|
||
<li>Essential hypertension, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hypertension/">Hypertension</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/essential-pentosuria/">Essential pentosuria</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/essential-thrombocythemia/">Essential thrombocythemia</a></li>
|
||
|
||
<li>Essential thrombocytosis, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/essential-thrombocythemia/">Essential thrombocythemia</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/essential-tremor/">Essential tremor</a></li>
|
||
|
||
<li>Estrogen synthetase deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/aromatase-deficiency/">Aromatase deficiency</a></li>
|
||
|
||
|
||
<li>ETFA deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/">Glutaric acidemia type II</a></li>
|
||
|
||
|
||
<li>ETFB deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/">Glutaric acidemia type II</a></li>
|
||
|
||
|
||
<li>ETFDH deficiency, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/">Glutaric acidemia type II</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/ethylmalonic-encephalopathy/">Ethylmalonic encephalopathy</a></li>
|
||
|
||
<li>Ethylmalonic-adipicaciduria, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-ii/">Glutaric acidemia type II</a></li>
|
||
|
||
|
||
<li>ETL1, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/autosomal-dominant-epilepsy-with-auditory-features/">Autosomal dominant epilepsy with auditory features</a></li>
|
||
|
||
|
||
<li>Eulenburg disease, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/paramyotonia-congenita/">Paramyotonia congenita</a></li>
|
||
|
||
|
||
<li>Ewing family of tumors, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ewing-sarcoma/">Ewing sarcoma</a></li>
|
||
|
||
|
||
<li><a href="https://medlineplus.gov/genetics/condition/ewing-sarcoma/">Ewing sarcoma</a></li>
|
||
|
||
<li>Ewing tumor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ewing-sarcoma/">Ewing sarcoma</a></li>
|
||
|
||
|
||
<li>Ewing's sarcoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ewing-sarcoma/">Ewing sarcoma</a></li>
|
||
|
||
|
||
<li>Ewing's tumor, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/ewing-sarcoma/">Ewing sarcoma</a></li>
|
||
|
||
|
||
<li>Exercise-induced myopathy, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency/">Adenosine monophosphate deaminase deficiency</a></li>
|
||
|
||
|
||
<li>Exophthalmic goiter, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/graves-disease/">Graves' disease</a></li>
|
||
|
||
|
||
<li>Exostoses, multiple hereditary, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/hereditary-multiple-osteochondromas/">Hereditary multiple osteochondromas</a></li>
|
||
|
||
|
||
<li>Extrahepatic cholangiocarcinoma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/cholangiocarcinoma/">Cholangiocarcinoma</a></li>
|
||
|
||
|
||
<li>Extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal insulin receptors, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/type-a-insulin-resistance-syndrome/">Type A insulin resistance syndrome</a></li>
|
||
|
||
|
||
<li>Extrinsic asthma, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/allergic-asthma/">Allergic asthma</a></li>
|
||
|
||
|
||
<li>Eyelid twitching, <i>see</i> <a href="https://medlineplus.gov/genetics/condition/benign-essential-blepharospasm/">Benign essential blepharospasm</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
</section>
|
||
|
||
<section>
|
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