loading...| Preferred Name |
INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 |
|
| Synonyms |
CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/266600 |
|
| altLabel |
CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO ULCERATIVE COLITIS CROHN DISEASE REGIONAL ENTERITIS IBD1 |
|
| cui |
C2675113 C0010346 C0009324 |
|
| Gene Locus |
16q12 |
|
| Gene Symbol |
CD NOD2 BLAUS CARD15 IBD1 YAOS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020589 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU020590 http://purl.bioontology.org/ontology/OMIM/MTHU020587 http://purl.bioontology.org/ontology/OMIM/MTHU020591 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU004026 |
|
| 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 |
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] |
|
| tui |
T047 T033 |