Phenotype Library | Search Phenotypes

Hereditary Intrinsic Factor Deficiency (MONDO:0009852)

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.

Overview

Category

hematologic disorder

Ontology ID

MONDO:0009852

Internal:11055

Synonyms

intrinsic factor deficiency

IFD

congenital intrinsic factor deficiency

congenital pernicious anaemia

congenital pernicious anemia

gastric intrinsic factor deficiency

hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency

hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency

congenital pernicious anaemia due to defect of intrinsic factor

congenital pernicious anemia due to defect of intrinsic factor

intrinsic factor, congenital deficiency of

pernicious Anemia, congenital, due to defect of intrinsic Factor

Mapped terms

DOID:0050734

GARD:0003024

ICD9:281.3

MEDGEN:1876474

MESH:C563242

MedDRA:10070440

OMIM:261000

Orphanet:332

SCTID:34925000

SCTID:60504009

UMLS:C2062370

Child terms

MONDO:0009471

Results

Cookie consent