Online Mendelian Inheritance in Man - CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/605814 http://purl.bioontology.org/ontology/OMIM/605814
Preferred Name	CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET
Synonyms	CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY FAILURE TO THRIVE AND DYSLIPIDEMIA CAUSED BY CITRIN DEFICIENCY NICCD FTTDCD CITRULLINEMIA, TYPE II, NEONATAL-ONSET, WITH OR WITHOUT FAILURE TO THRIVE AND DYSLIPIDEMIA CITRULLINEMIA, TYPE II, NEONATAL-ONSET CDNI
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY FAILURE TO THRIVE AND DYSLIPIDEMIA CAUSED BY CITRIN DEFICIENCY NICCD FTTDCD CITRULLINEMIA, TYPE II, NEONATAL-ONSET, WITH OR WITHOUT FAILURE TO THRIVE AND DYSLIPIDEMIA CITRULLINEMIA, TYPE II, NEONATAL-ONSET CDNI See more See less
prefLabel	CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET
Gene Symbol	CTLN2 NICCD SLC25A13
Scope Statement	Natural aversion to carbohydrates and favoring of protein [MISCELLANEOUS] Some patients may develop concurrent failure to thrive and dyslipidemia [MISCELLANEOUS] Most have resolution of symptoms between 6 and 12 months [MISCELLANEOUS] Caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrin), member 13 gene (SLC25A13, 603859.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003052 http://purl.bioontology.org/ontology/OMIM/MTHU003421 http://purl.bioontology.org/ontology/OMIM/MTHU033505 http://purl.bioontology.org/ontology/OMIM/MTHU004341 http://purl.bioontology.org/ontology/OMIM/MTHU004340 http://purl.bioontology.org/ontology/OMIM/MTHU033506 http://purl.bioontology.org/ontology/OMIM/MTHU004338 http://purl.bioontology.org/ontology/OMIM/MTHU002062 http://purl.bioontology.org/ontology/OMIM/MTHU004339 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU002081 http://purl.bioontology.org/ontology/OMIM/MTHU001720 See more See less
tui	T047
Gene Locus	7q21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	605814
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1853942 C6012694
OMIM Entry Type	3
OMIM MimType Value	pound

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