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congenital isolated adrenocorticotropic hormone deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.
Uniprot Description An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low.
Mondo Term and Equivalent IDs
MONDO:0008720:  congenital isolated adrenocorticotropic hormone deficiency
EFO:1001979: 
GARD:0005727: 
MESH:C535668: 
Orphanet:199296: 
SCTID:237692001: 
UMLS:C0342388: