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Mondo Disease 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 juvenile megaloblastic Anaemia familial megaloblastic anemia familial megaloblastic anaemia 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 |
|
| database_cross_reference |
icd11.foundation:375969525 MEDGEN:1640347 MESH:C538556 ICD9:281.3 SCTID:360495000 GARD:7006 OMIMPS:261100 UMLS:C4551825 Orphanet:35858
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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 juvenile megaloblastic Anaemia familial megaloblastic anemia familial megaloblastic anaemia 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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|
| IAO_0000233 | ||
| id |
MONDO:0009853
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| 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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| skos_exactMatch |
http://identifiers.org/medgen/1640347 http://purl.obolibrary.org/obo/Orphanet_35858 https://omim.org/phenotypicSeries/PS261100 http://identifiers.org/snomedct/360495000 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/375969525 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0001700 http://purl.obolibrary.org/obo/MONDO_0016624 |
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| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001700 http://purl.obolibrary.org/obo/MONDO_0016624 |
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