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loading...| Preferred Name |
FANCONI-BICKEL SYNDROME |
| Synonyms |
HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY |
| ID |
http://purl.bioontology.org/ontology/OMIM/227810 |
| altLabel |
HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY PSEUDO-PHLORIZIN DIABETES GLYCOGENOSIS, FANCONI TYPE HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME HEPATIC GLYCOGENOSIS WITH AMINO ACIDURIA AND GLUCOSURIA FANCONI SYNDROME WITH INTESTINAL MALABSORPTION AND GALACTOSE INTOLERANCE FBS GLYCOGEN STORAGE DISEASE XI |
| cui |
C3495427 |
| Gene Locus |
3q26.1-q26.3 |
| Gene Symbol |
SLC2A2 GLUT2 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
227810 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
FANCONI-BICKEL SYNDROME |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D005198 | Medical Subject Headings | CUI |