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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | Imerslund-Grasbeck syndrome | |
| Synonyms |
Gräsbeck-Imerslund disease enterocyte cobalamin malabsorption defect of enterocyte intrinsic factor receptor juvenile megaloblastic Anemia selective cobalamin malabsorption with proteinuria Imerslund-Grasbeck syndrome familial megaloblastic anemia Imerslund-Gräsbeck syndrome |
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| Definitions |
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009853 |
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| altLabel |
Gräsbeck-Imerslund disease enterocyte cobalamin malabsorption defect of enterocyte intrinsic factor receptor juvenile megaloblastic Anemia selective cobalamin malabsorption with proteinuria Imerslund-Grasbeck syndrome familial megaloblastic anemia Imerslund-Gräsbeck syndrome
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| definition |
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
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| has_exact_synonym |
juvenile megaloblastic Anemia selective cobalamin malabsorption with proteinuria Imerslund-Grasbeck syndrome familial megaloblastic anemia Imerslund-Gräsbeck syndrome
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| has_related_synonym |
Gräsbeck-Imerslund disease enterocyte cobalamin malabsorption defect of enterocyte intrinsic factor receptor
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| label |
Imerslund-Grasbeck syndrome
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| prefixIRI |
MONDO:0009853
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| prefLabel |
Imerslund-Grasbeck syndrome
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| textual definition |
Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015179 http://purl.obolibrary.org/obo/MONDO_0001700 http://purl.obolibrary.org/obo/MONDO_0100191 http://purl.obolibrary.org/obo/MONDO_0016624 |
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