syndromic disease hereditary endocrine growth disease growth hormone insensitivity syndrome Growth hormone insensitivity syndromes GHIS NANDO:2200321 NANDO:2100114 MONDO:0015892 short stature due to a defect in growth hormone receptor or post-receptor pathway 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. UMLS:C4318479 Orphanet:181393 MEDGEN:1384226 GARD:0003924 NCIT:C129867