Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Synonyms	NICCD
ID	http://purl.bioontology.org/ontology/OMIM/605814
altLabel	NICCD CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY CITRULLINEMIA, TYPE II, NEONATAL-ONSET, WITH OR WITHOUT FAILURE TO THRIVE AND DYSLIPIDEMIA
cui	C1853942
Gene Locus	7q21.3
Gene Symbol	SLC25A13 CTLN2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003421 http://purl.bioontology.org/ontology/OMIM/MTHU033510 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU004339 http://purl.bioontology.org/ontology/OMIM/MTHU004341 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU033507 http://purl.bioontology.org/ontology/OMIM/MTHU033505 http://purl.bioontology.org/ontology/OMIM/MTHU001720 http://purl.bioontology.org/ontology/OMIM/MTHU003052 http://purl.bioontology.org/ontology/OMIM/MTHU004338 http://purl.bioontology.org/ontology/OMIM/MTHU033508 http://purl.bioontology.org/ontology/OMIM/MTHU033509 http://purl.bioontology.org/ontology/OMIM/MTHU004340 http://purl.bioontology.org/ontology/OMIM/MTHU002062 http://purl.bioontology.org/ontology/OMIM/MTHU033506
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	605814
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CITRULLINEMIA, TYPE II, NEONATAL-ONSET
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536398	Medical Subject Headings	CUI