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DOID:0111814 - methylmalonic acidemia and homocysteinemia cblX type
Disease Ontology Definition:A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28.
Synonyms: combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, mental retardation, X-linked 3, methylmalonic aciduria with homocystinuria, type cblX
Xenbase Genes
:
gdi1,
hcfc1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
methylmalonic acidemia (is_a)