Mondo Description A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
Download Data for chromosome Xp11.23-p11.22 duplication syndrome
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
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Opens the Target List with this set of targets
Genome-wide association studies (GWAS) find associations between phenotypic traits and genes. Target Illumination GWAS Analytics (TIGA) scores and ranks those traits according to a subset of study parameters.
Disease categories representing more general classifications of the current disease. Total count of associated targets, and a breakdown of targets by Target Development Level is shown.
Disease categories representing more specific classifications of the current disease. Total count of associated targets, and a breakdown of targets by Target Development Level is shown.
Related diseases are represented as parents or children following the disease hierarchy defined by Disease Ontology.
The calculated importance and novelty for targets associated with this disease or it's children.