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DOID:0050800 - cerebral creatine deficiency syndrome 1
Disease Ontology Definition:A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.
Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 1, creatine transporter deficiency, SLC6A8 deficiency
Xenbase Genes : slc6a8, slc6a8l
MONDO:0010305 - creatine transporter deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cerebral creatine deficiency syndrome (is_a)