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Cell Culture Ontology
| Preferred Name | Imerslund-Grasbeck syndrome | |
| Synonyms |
enterocyte cobalamin malabsorption defect of enterocyte intrinsic factor receptor Gräsbeck-Imerslund disease familial megaloblastic anaemia Imerslund-Grasbeck syndrome selective cobalamin malabsorption with proteinuria familial megaloblastic anemia juvenile megaloblastic Anaemia juvenile 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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| database_cross_reference |
MESH:C538556 UMLS:C4551825 icd11.foundation:375969525 Orphanet:35858 MEDGEN:1640347 OMIMPS:261100 SCTID:360495000 GARD:7006 ICD9:281.3
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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 |
familial megaloblastic anaemia Imerslund-Grasbeck syndrome selective cobalamin malabsorption with proteinuria familial megaloblastic anemia juvenile megaloblastic Anaemia juvenile megaloblastic Anemia Imerslund-Gräsbeck syndrome
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|
| has_related_synonym |
enterocyte cobalamin malabsorption defect of enterocyte intrinsic factor receptor Gräsbeck-Imerslund disease
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| IAO_0000233 | ||
| id |
MONDO:0009853
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Imerslund-Grasbeck syndrome
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|
| notation |
MONDO:0009853
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|
| preferred label |
Imerslund-Grasbeck syndrome
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|
| prefLabel |
Imerslund-Grasbeck syndrome
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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 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001700 http://purl.obolibrary.org/obo/MONDO_0016624 |
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| excluded_subClassOf |
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