FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

FBP1D

http://purl.bioontology.org/ontology/OMIM/229700

FBP1D

C0016756

9q22.2-q22.3

FBP1

http://purl.bioontology.org/ontology/OMIM/MTHU041909

http://purl.bioontology.org/ontology/OMIM/MTHU000316

http://purl.bioontology.org/ontology/OMIM/MTHU023358

http://purl.bioontology.org/ontology/OMIM/MTHU036871

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU023357

http://purl.bioontology.org/ontology/OMIM/MTHU011496

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU036658

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU037132

Phenotype description, molecular basis known.

229700

3

pound

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

Onset in newborns or infants [MISCELLANEOUS]

Episodes triggered by fasting, illness, fever [MISCELLANEOUS]

Caused by mutation in the fructose-1,6-bisphosphatase gene (FBP1, 611570.0001) [MOLECULAR BASIS]

Patients show sorbitol and glycerol intolerance [MISCELLANEOUS]

T047