Regulation of Transcription Ontology

Last uploaded: December 4, 2018
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Preferred Name

Fanconi-Bickel syndrome
Synonyms

FBS
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.
ID

http://identifiers.org/omim/227810
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.
id

OMIM:227810
notation

OMIM:227810
prefLabel

Fanconi-Bickel syndrome
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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