About: methylmalonic acidemia and homocysteinemia cblX type

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	X-linked recessive disease methylmalonic acidemia nodeID://b50945523
label	methylmalonic acidemia and homocysteinemia cblX type
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111814
database_cross_reference	OMIM:309541 ORDO:369962
has_exact_synonym	mental retardation, X-linked 3 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX methylmalonic aciduria with homocystinuria, type cblX
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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 HCFC1 on chromosome Xq28.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945524

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