Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
Synonyms	FBP1D
ID	http://purl.bioontology.org/ontology/OMIM/229700
altLabel	FBP1D
cui	C0016756
Gene Locus	9q22.2-q22.3
Gene Symbol	FBP1
Has manifestation	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/MTHU023361 http://purl.bioontology.org/ontology/OMIM/MTHU036871 http://purl.bioontology.org/ontology/OMIM/MTHU028007 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 http://purl.bioontology.org/ontology/OMIM/MTHU023362 http://purl.bioontology.org/ontology/OMIM/MTHU023360
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	229700
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/E74.19	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.obolibrary.org/obo/DOID_5204	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/D015319	Medical Subject Headings	CUI