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1.

Hereditary intrinsic factor deficiency

Intrinsic factor deficiency (IFD), or congenital pernicious anemia, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). [from OMIM]

MedGen UID:
235598
Concept ID:
C1394891
Disease or Syndrome
2.

Intrinsic factor and r binder, combined congenital deficiency of

MedGen UID:
340942
Concept ID:
C1855721
Disease or Syndrome
3.

Absence of intrinsic factor

Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. [from HPO]

MedGen UID:
867280
Concept ID:
C4021641
Finding
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