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        <rdfs:label xml:lang="en">isolated growth hormone deficiency</rdfs:label>
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        <rdfs:label xml:lang="en">isolated growth hormone deficiency type II</rdfs:label>
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        <ns3:IAO_0000115 xml:lang="en">An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.</ns3:IAO_0000115>
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