loading...| Preferred Name |
Neonatal-onset citrullinemia type 2 |
|
| Synonyms |
Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536398 |
|
| altLabel |
Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency NICCD Citrullinemia, Type II, Neonatal-Onset Neonatal intrahepatic cholestasis caused by citrin deficiency Neonatal-onset citrullinemia type II |
|
| cui |
C1853942 |
|
| HM |
D020159 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
36 |
|
| MMR |
20150818 |
|
| notation |
C536398 |
|
| prefLabel |
Neonatal-onset citrullinemia type 2 |
|
| SC |
3 |
|
| Scope Statement |
An autosomal recessive metabolic disorder characterized by poor growth, INTRAHEPATIC CHOLESTASIS, and citrullinemia. Most patients show spontaneous improvement by 1 year of age; others may have a progressive course with continued failure to thrive and DYSLIPIDEMIA caused by citrin deficiency, and some may develop chronic or fatal LIVER DISEASE. Mutations in the SLC25A13 gene have been identified. OMIM: 605814 |
|
| TERMUI |
T739213 T830799 T739212 T739210 T830798 T739211 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |