loading...| Preferred Name |
INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 |
| Synonyms |
ULCERATIVE COLITIS |
| ID |
http://purl.bioontology.org/ontology/OMIM/266600 |
| altLabel |
ULCERATIVE COLITIS CROHN DISEASE CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO IBD1 REGIONAL ENTERITIS |
| cui |
C0009324 C0010346 C2675113 |
| Gene Locus |
16q12 |
| Gene Symbol |
NOD2 CARD15 CD BLAUS YAOS IBD1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020591 http://purl.bioontology.org/ontology/OMIM/MTHU020589 http://purl.bioontology.org/ontology/OMIM/MTHU020587 http://purl.bioontology.org/ontology/OMIM/MTHU020592 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU020590 http://purl.bioontology.org/ontology/OMIM/MTHU036407 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
266600 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 |
| Scope Statement |
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] Susceptibility conferred by mutation in the nucleotide-binding oligomerization domain protein 2 gene (NOD2, 605956.0001) [MOLECULAR BASIS] |
| tui |
T033 T047 |