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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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| Preferred Name | Fanconi-Bickel syndrome | |
| Synonyms |
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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://purl.obolibrary.org/obo/OMIM_227810 |
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| 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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| has_obo_namespace |
cell_cycle_ontology
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| id |
OMIM:227810
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| label |
Fanconi-Bickel syndrome
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| notation |
OMIM:227810
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| prefLabel |
Fanconi-Bickel syndrome
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| treeView | ||
| subClassOf |
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