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Metadata
ID DOID:0060177
Name homocarnosinosis
Definition A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf, http://en.wikipedia.org/wiki/Carnosinemia
Xrefs

GARD:2730

MESH:C535328

Subsets

DO_rare_slim

Parent Relationships

is_a brain disease

is_a gamma-amino butyric acid metabolism disorder

Subclass Logical Relationships

disease has location some brain

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