Mondo Disease Ontology

Last uploaded: November 25, 2024
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

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

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.

has_exact_synonym

SGLT1 deficiency

glucose-galactose malabsorption

has_related_synonym

Complex carbohydrate intolerance

glucose/galactose malabsorption

carbohydrate intolerance of glucose galactose

glucose galactose malabsorption deficiency

monosaccharide malabsorption

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/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

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare

label

glucose-galactose malabsorption

notation

MONDO:0011731

prefLabel

glucose-galactose malabsorption

seeAlso

https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption

skos_closeMatch

http://identifiers.org/meddra/10066388

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

treeView

http://purl.obolibrary.org/obo/MONDO_0019226

http://purl.obolibrary.org/obo/MONDO_0005020

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019226

http://purl.obolibrary.org/obo/MONDO_0005020

Delete Subject Author Type Created
No notes to display