Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/611881
http://purl.bioontology.org/ontology/OMIM/611881
Preferred Name

GLYCOGEN STORAGE DISEASE XII
Synonyms
RED CELL ALDOLASE DEFICIENCY
ALDOA DEFICIENCY
ALDOLASE DEFICIENCY, RED CELL
GSD XII
ALDOLASE A DEFICIENCY
GSD12
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
RED CELL ALDOLASE DEFICIENCY
ALDOA DEFICIENCY
ALDOLASE DEFICIENCY, RED CELL
GSD XII
ALDOLASE A DEFICIENCY
GSD12
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prefLabel
GLYCOGEN STORAGE DISEASE XII
Gene Symbol
ALDOA
GSD12
Scope Statement
Caused by mutation in the Aldolase A, fructose-bisphosphatase gene (ALDOA, 103850.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU009745
http://purl.bioontology.org/ontology/OMIM/MTHU003653
http://purl.bioontology.org/ontology/OMIM/MTHU006123
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU039166
http://purl.bioontology.org/ontology/OMIM/MTHU000567
http://purl.bioontology.org/ontology/OMIM/MTHU039167
http://purl.bioontology.org/ontology/OMIM/MTHU039168
http://purl.bioontology.org/ontology/OMIM/MTHU036721
http://purl.bioontology.org/ontology/OMIM/MTHU011896
http://purl.bioontology.org/ontology/OMIM/MTHU039165
http://purl.bioontology.org/ontology/OMIM/MTHU002997
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU009746
http://purl.bioontology.org/ontology/OMIM/MTHU000145
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tui
T047
Gene Locus
16p11.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
611881
Semantic type UMLS property
Has inheritance type
cui
C0272066
OMIM Entry Type
3
OMIM MimType Value
pound
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