Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618641
http://purl.bioontology.org/ontology/OMIM/618641
|
|---|---|
| Preferred Name | INFANTILE LIVER FAILURE SYNDROME 3 |
| Synonyms |
ILFS3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ILFS3
|
|---|---|
| prefLabel | INFANTILE LIVER FAILURE SYNDROME 3
|
| Gene Symbol |
ILFS3
RINT1
|
| Scope Statement | Caused by mutation in the RAD50-interacting protein 1 gene (RINT1, 610089.0002) [MOLECULAR BASIS]
Acute episodes of liver failure often triggered by infection or fever [MISCELLANEOUS]
Onset in infancy or first years of life [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 7q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618641
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231437
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |