Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CITRULLINEMIA, TYPE II, ADULT-ONSET

Synonyms

CITRIN DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/603471

altLabel

CITRIN DEFICIENCY

CTLN2

cui

C1863844

Gene Locus

7q21.3

Gene Symbol

SLC25A13

CTLN2

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU016919

http://purl.bioontology.org/ontology/OMIM/MTHU033362

http://purl.bioontology.org/ontology/OMIM/MTHU033366

http://purl.bioontology.org/ontology/OMIM/MTHU008946

http://purl.bioontology.org/ontology/OMIM/MTHU003630

http://purl.bioontology.org/ontology/OMIM/MTHU033364

http://purl.bioontology.org/ontology/OMIM/MTHU033369

http://purl.bioontology.org/ontology/OMIM/MTHU033370

http://purl.bioontology.org/ontology/OMIM/MTHU038623

http://purl.bioontology.org/ontology/OMIM/MTHU002553

http://purl.bioontology.org/ontology/OMIM/MTHU033358

http://purl.bioontology.org/ontology/OMIM/MTHU033365

http://purl.bioontology.org/ontology/OMIM/MTHU033368

http://purl.bioontology.org/ontology/OMIM/MTHU033363

http://purl.bioontology.org/ontology/OMIM/MTHU033361

http://purl.bioontology.org/ontology/OMIM/MTHU002080

http://purl.bioontology.org/ontology/OMIM/MTHU033367

http://purl.bioontology.org/ontology/OMIM/MTHU033371

http://purl.bioontology.org/ontology/OMIM/MTHU024688

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU003881

http://purl.bioontology.org/ontology/OMIM/MTHU002062

http://purl.bioontology.org/ontology/OMIM/MTHU024633

http://purl.bioontology.org/ontology/OMIM/MTHU033356

http://purl.bioontology.org/ontology/OMIM/MTHU033359

http://purl.bioontology.org/ontology/OMIM/MTHU033357

http://purl.bioontology.org/ontology/OMIM/MTHU005420

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

603471

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CITRULLINEMIA, TYPE II, ADULT-ONSET

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LA12483-6 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C538053 Medical Subject Headings CUI