Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618213
http://purl.bioontology.org/ontology/OMIM/618213
|
|---|---|
| Preferred Name | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY |
| Synonyms |
IBDIMDE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IBDIMDE
|
|---|---|
| prefLabel | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
|
| Gene Symbol |
CED
IBDIMDE
DPD1
TGFB1
|
| Scope Statement | Onset in early infancy [MISCELLANEOUS]
Early death may occur [MISCELLANEOUS]
Caused by mutation in the transforming growth factor, beta-1 gene (TGFB1, 190180.0008) [MOLECULAR BASIS]
Three patients from 2 unrelated families have been reported (last curated December 2018) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 19q13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618213
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748708
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |