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Entry Name Description Category Pathway Gene
H00931 Growth hormone insensitivity with immunodeficiency ... insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation in the STAT5b, a component of the GH signaling pathway, leads to a complete absence of protein expression. Endocrine and metabolic disease (GHISID1/2) STAT5B [HSA:6777] [KO:K11224]
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