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Short stature due to partial GHR deficiency

rare

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.

Identifiers
MONDO:0011420 OMIM:604271Orphanet:314802
Part of
Growth hormone insensitivity syndromePituitary dwarfism
Also known as
GHIP · Growth hormone deficiency, isolated, partial · growth hormone insensitivity, partial · Growth hormone, insensitivity to, partial · short stature due to partial growth hormone receptor deficiency

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