cerebral creatine deficiency syndrome

Summary

DOID:0050798 - cerebral creatine deficiency syndrome

Disease Ontology Definition:An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gamt, gatm, slc6a8, slc6a8l

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000456 - cerebral creatine deficiency syndrome

MONDO:0000456 - cerebral creatine deficiency syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): amino acid metabolic disorder (is_a)