ZFIN Human Disease: neonatal-onset type II citrullinemia

OBO ID: DOID:0070341

Term Name:	neonatal-onset type II citrullinemia		Search Ontology:
Synonyms:	neonatal intrahepatic cholestasis neonatal-onset type 2 citrullinemia
Definition:	A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. https://www.omim.org/entry/605814
References:	OMIM:605814
Ontology:	Human Disease ( DOID:0070341 )

Relationships

is a type of:	autosomal recessive disease citrullinemia autosomal recessive disease citrullinemia Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC25A13	slc25a13	Citrullinemia, type II, neonatal-onset	605814

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None