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The Natural Repertory of Prof. William Nelson

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Emphysema-cirrhosis (1) 14q32.1<br />

Enolase deficiency (1) 1pter-p36.13<br />

?Eosinophilic myeloproliferative disorder (2) 12p13<br />

Epidermolysis bullosa dystrophica, recessive (3) 11q11-q23<br />

Epidermolysis bullosa Ogna type (2) 8q24<br />

Epidermolysis bullosa progressiva (2) Unassigned Link<br />

?Epidermolysis bullosa simplex, Koebner type 1q21-q24<br />

Epilepsy, juvenile myoclonic (2) 6p21.3<br />

Epilepsy, progressive myoclonic (2) 21q22.3<br />

?Erythremia (1) 7q21-q22<br />

Erythremias, alpha- (1) 16pter-p13.3<br />

Erythremias, beta- (1) 11p15.5<br />

Erythroblastosis fetalis (1) 1p36.2-p34<br />

Erythrokeratodermia variabilis (2) 1p36.2-p34<br />

*[Euthyroidal hyper- and hypothyroxinemia] (1) Xq21-q22<br />

Ewing Sarcoma (2) 22q12<br />

Exertional myoglobinuria due to deficiency <strong>of</strong> LDH-A (1) 11p15.4<br />

Fabry disease (3) Xq22<br />

Facioscapulohumeral muscular dystrophy (2) 4q34-qter<br />

Factor H deficiency (1) 1q32<br />

Factor V deficiency (1) 1q23<br />

Factor VII deficiency (1) 13q34<br />

Factor X deficiency (1) 13q34<br />

Factor XI deficiency (1) 4q35<br />

Factor XII deficiency (1) 5q33-qter<br />

Factor XIIIA deficiency 6p25-p24<br />

Factor XIIIB deficiency 1q31-q32.1<br />

?Familial Mediterranean fever (1) 9q32-q33<br />

?Fanconi anemia (1) 1q41-q42<br />

Fanconi anemia-1 (2) 20Q<br />

Favism (1) Xq28<br />

?Fetal alcohol syndrome (1) 12q24.2<br />

?Fetal hydantoin syndrome (1) 1p22-qter<br />

Fletcher factor deficiency (1) 4q35<br />

*Focal dermal hypoplasia (2) Xp22.31<br />

Fragile X syndrome/Martin-Bell syndrome (2) Xq27.3<br />

Friedreich ataxia (2) 9q13-q21.1<br />

Fructose Intolerance (1) 9q22<br />

?Fryns syndrome (2) 1q24-q31.2<br />

Fucosidosis (1) 1p34<br />

Fumarase deficiency (1) 1q42.1<br />

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