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pituitary hormone deficiency, combined, 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.
Uniprot Description Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone.
Mondo Term and Equivalent IDs
MONDO:0013518:  pituitary hormone deficiency, combined, 6
UMLS:C3151440: