Preferred Name | glucose-galactose malabsorption | |
Synonyms |
Complex carbohydrate intolerance glucose/galactose malabsorption carbohydrate intolerance of glucose galactose glucose galactose malabsorption deficiency monosaccharide malabsorption GGM SGLT1 deficiency glucose-galactose malabsorption |
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Definitions |
Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0011731 |
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database_cross_reference |
GARD:6521 NANDO:2200909 OMIM:606824 icd11.foundation:2108415931 MedDRA:10066388 NORD:1190 DOID:0070563 MESH:C562602 SCTID:190749000 Orphanet:35710 MEDGEN:78647 UMLS:C0268186 ICD9:271.3 |
|
definition |
Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. |
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has_exact_synonym |
SGLT1 deficiency glucose-galactose malabsorption |
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has_related_synonym |
Complex carbohydrate intolerance glucose/galactose malabsorption carbohydrate intolerance of glucose galactose glucose galactose malabsorption deficiency monosaccharide malabsorption GGM |
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IAO_0000233 | ||
id |
MONDO:0011731 |
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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 |
glucose-galactose malabsorption |
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notation |
MONDO:0011731 |
|
prefLabel |
glucose-galactose malabsorption |
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seeAlso |
https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption |
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skos_closeMatch | ||
skos_exactMatch |
http://identifiers.org/medgen/78647 http://purl.obolibrary.org/obo/DOID_0070563 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2108415931 http://linkedlifedata.com/resource/umls/id/C0268186 http://identifiers.org/snomedct/190749000 |
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treeView | ||
subClassOf |