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Kidney Tissue Atlas 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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| closeMatch | ||
| database_cross_reference |
GARD:0007006 ICD9:281.3 SCTID:360495000 OMIMPS:261100 ICD10:D51.1 Orphanet:35858
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| exactMatch | ||
| 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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|
| id |
MONDO:0009853
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| imported from | ||
| in_subset | ||
| label |
Imerslund-Grasbeck syndrome
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| notation |
MONDO:0009853
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| prefLabel |
Imerslund-Grasbeck syndrome
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|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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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_0015188 http://purl.obolibrary.org/obo/MONDO_0020109 |
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