Disease #01795 (FBP1D (Fructose-biphosphatase deficiency), OMIM:229700)

Official abbreviation FBP1D
Name Fructose-biphosphatase deficiency
OMIM ID 229700
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene FBP1
Associated tissues -
Disease features -
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Individuals

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00080858 - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - 0 - - FBP1D Fructose-1,6-bisphosphatase deficiency (OMIM:229700) FBP1 FBP1 1 1 Daniel Trujillano
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