Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
Id | http://purl.bioontology.org/ontology/OMIM/615486
http://purl.bioontology.org/ontology/OMIM/615486
|
---|---|
Preferred Name | INTERSTITIAL LUNG AND LIVER DISEASE |
Synonyms |
PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
ILLD
ILFS2, FORMERLY
INFANTILE LIVER FAILURE SYNDROME 2, FORMERLY
|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
ILLD
ILFS2, FORMERLY
INFANTILE LIVER FAILURE SYNDROME 2, FORMERLY
|
---|---|
prefLabel | INTERSTITIAL LUNG AND LIVER DISEASE
|
Gene Symbol |
METRS
CMT2U
MARS1
TTD9
MARS
ILLD
SPG70
MTRNS
See more
See less
|
notation | 615486
|
Scope Statement | Caused by mutation in the methionyl-tRNA synthetase gene (MARS, 156560.0001) [MOLECULAR BASIS]
Anemia, hypothyroidism, aminoaciduria, and lactic acidosis all occurred in 1 patient [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Early death from respiratory failure may occur [MISCELLANEOUS]
Progressive disorder [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 | 12q13.3
|
tui | T047
|
cui | C4225400
|
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 |