endothelin 3
OMIM: 131242, Gene2Phenotype
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EDN3 in Familial Hirschsprung Disease
Level 3: Gastrointestinal disorders
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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EDN3 in Familial pulmonary fibrosis
Level 3: Interstitial lung disorders
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review | Not set |
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EDN3 in Sudden death in young people
Level 3: Cardiac arrhythmia
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review | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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EDN3 in Pigmentary skin disorders
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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EDN3 in Monogenic hearing loss
Level 3: Non-syndromic hearing loss
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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EDN3 in Paediatric pseudo-obstruction syndrome
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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Phenotypes
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