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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |