Experimental Factor Ontology - glucose-galactose malabsorption - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: September 16, 2024

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Preferred Name	glucose-galactose malabsorption
Synonyms	Complex carbohydrate intolerance glucose galactose malabsorption deficiency monosaccharide malabsorption glucose/galactose malabsorption carbohydrate intolerance of glucose galactose GGM SGLT1 deficiency 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.
ID	http://purl.obolibrary.org/obo/MONDO_0011731
closeMatch	http://identifiers.org/meddra/10066388
database_cross_reference	MEDGEN:78647 UMLS:C0268186 SCTID:190749000 Orphanet:35710 MedDRA:10066388 OMIM:606824 MESH:C562602 icd11.foundation:2108415931 NANDO:2200909 GARD:6521 ICD9:271.3 NORD:1190
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.
exactMatch	http://identifiers.org/medgen/78647 http://www.orpha.net/ORDO/Orphanet_35710 http://linkedlifedata.com/resource/umls/id/C0268186 http://identifiers.org/snomedct/190749000 https://omim.org/entry/606824 http://identifiers.org/mesh/C562602
has_exact_synonym	SGLT1 deficiency glucose-galactose malabsorption
has_related_synonym	Complex carbohydrate intolerance glucose galactose malabsorption deficiency monosaccharide malabsorption glucose/galactose malabsorption carbohydrate intolerance of glucose galactose GGM
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6743 https://github.com/monarch-initiative/mondo/issues/4985
id	MONDO:0011731
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare
label	glucose-galactose malabsorption
notation	MONDO:0011731
preferred label	glucose-galactose malabsorption
prefLabel	glucose-galactose malabsorption
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

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0011731	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0011731	DOVES	SAME_URI
	http://purl.bioontology.org/ontology/MESH/C562602	MESH	LOOM
	http://purl.obolibrary.org/obo/DOID_0070563	DOID	LOOM
	http://purl.bioontology.org/ontology/RCD/C3130	RCD	LOOM
	http://purl.bioontology.org/ontology/SNOMEDCT/190749000	SNOMEDCT	LOOM
	http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562602	RH-MESH	LOOM
	http://www.orpha.net/ORDO/Orphanet_35710	ORDO	LOOM
	http://nanbyodata.jp/ontology/NANDO_2200909	NANDO	LOOM
	http://purl.jp/bio/4/id/200906024890422864	IOBC	LOOM
	http://www.limics.org/hrdo/rdfns#pat_id_10398	HRDO	LOOM
	http://purl.bioontology.org/ontology/OMIM/606824	OMIM	LOOM
	http://sbmi.uth.tmc.edu/ontology/ochv#C0268186	OCHV	LOOM
	http://purl.bioontology.org/ontology/MEDDRA/10066388	MEDDRA	LOOM
	http://purl.obolibrary.org/obo/MONDO_0011731	MONDO	LOOM
	http://purl.obolibrary.org/obo/MONDO_0011731	DOVES	LOOM