. . . . . . . "[Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2017-10-17T13:15:41+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .