Growth Hormone Insensitivity Syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0271568

Statements in which the resource exists.
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umls-concept:C0271568skos:definitionMSH: An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.lld:umls
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