ZFIN Human Disease: AGAT deficiency

OBO ID: DOID:0050712

Term Name:	AGAT deficiency		Search Ontology:
Synonyms:	arginine glycine amidinotransferase deficiency Cerebral creatine deficiency syndrome 3
Definition:	An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency
References:	OMIM:612718
Ontology:	Human Disease ( DOID:0050712 )

Relationships

is a type of:	autosomal recessive disease cerebral creatine deficiency syndrome autosomal recessive disease cerebral creatine deficiency syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GATM	gatm	Cerebral creatine deficiency syndrome 3	612718

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None