growth hormone insensitivity syndrome
Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.
MONDO:0002254
syndromic disease
is_a
MONDO:0015514
hereditary endocrine growth disease
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GHIS
exact
Growth hormone insensitivity syndromes
exact
short stature due to a defect in growth hormone receptor or post-receptor pathway
exact