You are using an outdated browser. Please upgrade your browser to improve your experience.
homocystinuria without methylmalonic aciduria
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).
Mondo Term and Equivalent IDs
MONDO:0018964: homocystinuria without methylmalonic aciduria
Download Data for homocystinuria without methylmalonic aciduria
data still loading...
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.
Orphanet:622
SCTID:721225009
UMLS:C4303479
MONDO:0018964
High level summary of knowledge for a disease, including descriptions and datasource references.