Online Mendelian Inheritance in Man - FANCONI-BICKEL SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	FANCONI-BICKEL SYNDROME
Synonyms	GLYCOGEN STORAGE DISEASE XI HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA GLYCOGENOSIS, FANCONI TYPE HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE PSEUDO-PHLORIZIN DIABETES HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME FBS
ID	http://purl.bioontology.org/ontology/OMIM/227810
altLabel	GLYCOGEN STORAGE DISEASE XI HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA GLYCOGENOSIS, FANCONI TYPE HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE PSEUDO-PHLORIZIN DIABETES HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME FBS
cui	C3495427
Gene Locus	3q26.1-q26.3
Gene Symbol	SLC2A2 GLUT2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU065310 http://purl.bioontology.org/ontology/OMIM/MTHU065306 http://purl.bioontology.org/ontology/OMIM/MTHU005319 http://purl.bioontology.org/ontology/OMIM/MTHU065307 http://purl.bioontology.org/ontology/OMIM/MTHU065314 http://purl.bioontology.org/ontology/OMIM/MTHU065309 http://purl.bioontology.org/ontology/OMIM/MTHU036801 http://purl.bioontology.org/ontology/OMIM/MTHU021973 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU005728 http://purl.bioontology.org/ontology/OMIM/MTHU003983 http://purl.bioontology.org/ontology/OMIM/MTHU006653 http://purl.bioontology.org/ontology/OMIM/MTHU005526 http://purl.bioontology.org/ontology/OMIM/MTHU008941 http://purl.bioontology.org/ontology/OMIM/MTHU065313 http://purl.bioontology.org/ontology/OMIM/MTHU050565 http://purl.bioontology.org/ontology/OMIM/MTHU014894 http://purl.bioontology.org/ontology/OMIM/MTHU065312 http://purl.bioontology.org/ontology/OMIM/MTHU057494 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU008654 http://purl.bioontology.org/ontology/OMIM/MTHU037106 http://purl.bioontology.org/ontology/OMIM/MTHU065308 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU065311 http://purl.bioontology.org/ontology/OMIM/MTHU005834 http://purl.bioontology.org/ontology/OMIM/MTHU023500 http://purl.bioontology.org/ontology/OMIM/MTHU037464
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	227810
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	FANCONI-BICKEL SYNDROME
Scope Statement	Caused by mutation in the glucose transporter 2 gene (SLC2A2, 138160.0002) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/61598006	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D6-50450	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D005198	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62332007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/61598006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/62332007	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D005198	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-B5300	SNMI	CUI
http://purl.obolibrary.org/obo/DOID_0070562	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0070562	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0070562	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0070562	DDSS	LOOM
http://www.orpha.net/ORDO/Orphanet_2088	ORDO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#Fanconi-Bickel_syndrome	NATPRO	LOOM
http://purl.obolibrary.org/obo/OMIM_227810	CCO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268150	OCHV	LOOM
http://identifiers.org/omim/227810	REXO	LOOM
http://identifiers.org/omim/227810	GEXO	LOOM
http://identifiers.org/omim/227810	RETO	LOOM