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loading...| Preferred Name |
Citrullinemia Type II |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C150603 |
| code |
C150603 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 |
| Contributing_Source |
CTRP Cellosaurus |
| DEFINITION |
An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the SLC25A13 gene, encoding calcium-binding mitochondrial carrier protein Aralar2. |
| Display_Name |
Citrullinemia Type II |
| FULL_SYN |
CTLN2 Citrullinemia Type II |
| label |
Citrullinemia Type II |
| Preferred_Name |
Citrullinemia Type II |
| prefixIRI |
Thesaurus:C150603 |
| prefLabel |
Citrullinemia Type II |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C3844612 |
| subClassOf |
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