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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618287
http://purl.bioontology.org/ontology/OMIM/618287
|
|---|---|
| Preferred Name | AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3 |
| Synonyms |
MUCOCUTANEOUS ULCERATION, CHRONIC
AIFBL3
CMCU
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MUCOCUTANEOUS ULCERATION, CHRONIC
AIFBL3
CMCU
|
|---|---|
| prefLabel | AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3
|
| Gene Symbol |
CMCU
NFKB3
AIF3BL3
RELA
|
| Scope Statement | Favorable response to TNF inhibitors [MISCELLANEOUS]
Caused by mutation in the NF-kB subunit of the RELA proto-oncogene (RELA, 164014.0001) [MOLECULAR BASIS]
Onset in first years of life [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 11q12-q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618287
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748997
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |