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Intrinsic factor and r binder, combined congenital deficiency of

MedGen UID:
340942
Concept ID:
C1855721
Disease or Syndrome
Synonym: Intrinsic Factor and R Binder, Combined Congenital Deficiency of
 
Monarch Initiative: MONDO:0009471
OMIM®: 243320

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Absence of intrinsic factor
MedGen UID:
867280
Concept ID:
C4021641
Finding
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.
Abnormality of the nervous system
MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
An abnormality of the nervous system.
Megaloblastic anemia
MedGen UID:
1527
Concept ID:
C0002888
Disease or Syndrome
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

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