Cell Culture Ontology - glucose-galactose malabsorption - Classes | NCBO BioPortal

Cell Culture Ontology

Last uploaded: July 23, 2014

Id	http://purl.obolibrary.org/obo/MONDO_0011731 http://purl.obolibrary.org/obo/MONDO_0011731
Preferred Name	glucose-galactose malabsorption
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.
Synonyms	Complex carbohydrate intolerance glucose galactose malabsorption deficiency monosaccharide malabsorption glucose/galactose malabsorption carbohydrate intolerance of glucose galactose GGM SGLT1 deficiency glucose-galactose malabsorption
Type	http://www.w3.org/2002/07/owl#Class

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.
preferred label	glucose-galactose malabsorption
label	glucose-galactose malabsorption
prefLabel	glucose-galactose malabsorption
database_cross_reference	MEDGEN:78647 UMLS:C0268186 DOID:0070563 SCTID:190749000 Orphanet:35710 MedDRA:10066388 OMIM:606824 MESH:C562602 icd11.foundation:2108415931 NANDO:2200909 GARD:6521 ICD9:271.3 NORD:1190 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6743 https://github.com/monarch-initiative/mondo/issues/4985
notation	MONDO:0011731
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 See more See less
has_related_synonym	Complex carbohydrate intolerance glucose galactose malabsorption deficiency monosaccharide malabsorption glucose/galactose malabsorption carbohydrate intolerance of glucose galactose GGM See more See less
id	MONDO:0011731
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 http://purl.obolibrary.org/obo/Orphanet_35710 https://omim.org/entry/606824 http://identifiers.org/mesh/C562602 See more See less
see also	https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption
subClassOf	http://www.ebi.ac.uk/efo/EFO_0009431 http://purl.obolibrary.org/obo/MONDO_0019226
skos_closeMatch	http://identifiers.org/meddra/10066388
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	SGLT1 deficiency glucose-galactose malabsorption

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