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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | INTRINSIC FACTOR DEFICIENCY | |
| Synonyms |
IFD PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/261000 |
|
| altLabel |
IFD PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
|
|
| cui |
C1394891
|
|
| Gene Locus |
11q13
|
|
| Gene Symbol |
IF CBLIF GIF
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU010233 http://purl.bioontology.org/ontology/OMIM/MTHU010234 http://purl.bioontology.org/ontology/OMIM/MTHU010240 http://purl.bioontology.org/ontology/OMIM/MTHU010237 http://purl.bioontology.org/ontology/OMIM/MTHU005827 http://purl.bioontology.org/ontology/OMIM/MTHU010239 http://purl.bioontology.org/ontology/OMIM/MTHU010238 http://purl.bioontology.org/ontology/OMIM/MTHU010236 http://purl.bioontology.org/ontology/OMIM/MTHU010232 http://purl.bioontology.org/ontology/OMIM/MTHU010235 http://purl.bioontology.org/ontology/OMIM/MTHU000700 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
261000
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
INTRINSIC FACTOR DEFICIENCY
|
|
| Scope Statement |
Caused by mutation in the cobalamin-binding intrinsic factor gene (CBLIF, 609342.0001) [MOLECULAR BASIS] Onset in childhood [MISCELLANEOUS]
|
|
| tui |
T047
|
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