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Gene Expression Ontology
Last uploaded:
December 16, 2015
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| Preferred Name | Fanconi-Bickel syndrome | |
| Synonyms |
FBS |
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| Definitions |
(FBS) - Rare, well- defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. |
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| ID |
http://identifiers.org/omim/227810 |
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| altLabel |
FBS
|
|
| definition |
(FBS) - Rare, well- defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.
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|
| id |
OMIM:227810
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| notation |
OMIM:227810
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| prefLabel |
Fanconi-Bickel syndrome
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| subClassOf |
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