Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_35710 http://www.orpha.net/ORDO/Orphanet_35710
Preferred Name	Glucose-galactose malabsorption
Definitions	A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period.
Synonyms	SGLT1 deficiency
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	A rare, potentially lethal, autosomal recessive metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset in the neonatal period.
label	Glucose-galactose malabsorption
prefLabel	Glucose-galactose malabsorption
hasDbXref	UMLS:C0268186 ICD-10:E74.3 MedDRA:10066388 OMIM:606824 ICD-11:5C61.0 MeSH:C562602 See more See less
notation	ORPHA:35710
alternative_term	SGLT1 deficiency
present_in	France AND has_birth_prevalence_average_value : 0.22 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown
part_of	http://www.orpha.net/ORDO/Orphanet_104003 http://www.orpha.net/ORDO/Orphanet_79178
prefixIRI	ORDO:Orphanet_35710
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=35710
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal recessive
has_age_of_onset	Infancy Neonatal
treeView	http://www.orpha.net/ORDO/Orphanet_104003 http://www.orpha.net/ORDO/Orphanet_79178

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