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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/266600
http://purl.bioontology.org/ontology/OMIM/266600
|
|---|---|
| Preferred Name | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 |
| Synonyms |
CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO
ULCERATIVE COLITIS
CROHN DISEASE
REGIONAL ENTERITIS
IBD1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO
ULCERATIVE COLITIS
CROHN DISEASE
REGIONAL ENTERITIS
IBD1
|
|---|---|
| prefLabel | INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1
|
| Gene Symbol |
CD
NOD2
BLAUS
CARD15
IBD1
YAOS
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|
| notation | 266600
|
| Scope Statement | Susceptibility conferred by mutation in the nucleotide-binding oligomerization domain protein 2 gene (NOD2, 605956.0001) [MOLECULAR BASIS]
Genetic heterogeneity [MISCELLANEOUS]
5-10% of patients have a first degree relative with IBD (Crohn or ulcerative colitis) [MISCELLANEOUS]
35% of cases involve ileum only (ileitis), 45% of cases involve ileum and colon (ileocolitis), 20% of cases involve colon alone - rectum spared (granulomatous colitis) [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 16q12
|
| tui |
T047
T033
|
| cui |
C2675113
C0010346
C0009324
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