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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Imerslund-Grasbeck syndrome | |
| Synonyms |
Megaloblastic Anemia 1 Enterocyte cobalamin malabsorption Enterocyte intrinsic factor receptor, defect of |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C538556 |
|
| altLabel |
Megaloblastic Anemia 1 Enterocyte cobalamin malabsorption Enterocyte intrinsic factor receptor, defect of
|
|
| cui |
C4551825
|
|
| HM |
D014806 D008286 D000749 D011507
|
|
| Inverse of RB |
0
|
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D014806 http://purl.bioontology.org/ontology/MESH/D011507 |
|
| MDA |
20100825
|
|
| MeSH Frequency |
39
|
|
| MMR |
20150818
|
|
| notation |
C538556
|
|
| prefLabel |
Imerslund-Grasbeck syndrome
|
|
| SC |
3
|
|
| Scope Statement |
An autosomal recessive congenital form of megaloblastic anemia due to vitamin B12 deficiency; proteinuria is also present. The disorder is caused by a defect in the vitamin B12/intrinsic factor receptor (CUBN gene mutation). Mutations in the AMN gene have also been identified. OMIM: 261100
|
|
| TERMUI |
T802453 T746113 T746116 T746115
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|
| TH |
OMIM (2013) ORD (2010)
|
|
| tui |
T047
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