Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
Id | http://purl.bioontology.org/ontology/OMIM/603471
http://purl.bioontology.org/ontology/OMIM/603471
|
---|---|
Preferred Name | CITRULLINEMIA, TYPE II, ADULT-ONSET |
Synonyms |
CTLN2
CITRIN DEFICIENCY
|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
CTLN2
CITRIN DEFICIENCY
|
---|---|
prefLabel | CITRULLINEMIA, TYPE II, ADULT-ONSET
|
Gene Symbol |
CTLN2
NICCD
SLC25A13
|
notation | 603471
|
Scope Statement | 1 in 19,000 in Japan [MISCELLANEOUS]
1 in 17,000 in China [MISCELLANEOUS]
Caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrin), member 13 (SLC25A13, 603859.0001) [MOLECULAR BASIS]
Natural aversion to carbohydrates [MISCELLANEOUS]
Increased frequency in individuals of Asian descent [MISCELLANEOUS]
Favoring of fat and protein [MISCELLANEOUS]
Some patients may be asymptomatic [MISCELLANEOUS]
Mean age of diagnosis is 40 years (range 11 to 79 years) [MISCELLANEOUS]
1 in 50,000 in Korea [MISCELLANEOUS]
See more
See less
|
OMIM MimType Value | pound
|
Has inheritance type | |
Semantic type UMLS property | |
OMIM Entry Type | 3
|
type | |
Has manifestation |
See more
See less
|
MIMTYPEMEANING | Phenotype description, molecular basis known.
|
Gene Locus | 7q21.3
|
tui | T047
|
cui | C1863844
|
Add comment
Delete | Subject | Author | Type | Created |
---|---|---|---|---|
No notes to display |
- Problem retrieving properties:
Notes
Filter:
Add NCBO Web Widgets to your site for OMIM
Widget type | Widget demonstration |
---|---|
|
Step 2: Follow the Instructions
For more help visit NCBO Widget Wiki |
|
Example 1 (start typing the class name to get its full URI)
Example 2 (get the ID for a class) Example 3 (get the preferred name for a class) Step 2: Follow the Instructions
For more help visit NCBO Widget Wiki |
|
Step 2: Follow the InstructionsCopy the code below and paste it to your HTML page <iframe frameborder="0" src="/widgets/visualization?ontology=OMIM&class=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2FMTHU046209&apikey=YOUR_API_KEY"></iframe> For more help visit NCBO Widget Wiki |
|
Step 2: Follow the InstructionsCopy the code below and paste it to your HTML page <link rel="stylesheet" type="text/css" href="/widgets/jquery.ncbo.tree.css"> <script src="/widgets/jquery.ncbo.tree-2.0.2.js"></script> <div id="widget_tree"></div> var widget_tree = $("#widget_tree").NCBOTree({ apikey: "YOUR_API_KEY", ontology: "OMIM" }); You can also view a detailed demonstration For more help visit NCBO Widget Wiki |