MCID: INF160
MIFTS: 16

Inflammatory Bowel Disease 17

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases, Bone diseases, Blood diseases, Immune diseases

Aliases & Classifications for Inflammatory Bowel Disease 17

MalaCards integrated aliases for Inflammatory Bowel Disease 17:

Name: Inflammatory Bowel Disease 17 57 12 75 29 73
Inflammatory Bowel Disease 17, Protection Against 57 13 6
Ibd17 57 12 75
Bowel Disease, Inflammatory, Type 17 40

Classifications:



External Ids:

OMIM 57 612261
Disease Ontology 12 DOID:0110883
MedGen 42 C2677091
MeSH 44 D015212
UMLS 73 C2677091

Summaries for Inflammatory Bowel Disease 17

UniProtKB/Swiss-Prot : 75 Inflammatory bowel disease 17: A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints.

MalaCards based summary : Inflammatory Bowel Disease 17, is also known as inflammatory bowel disease 17, protection against. An important gene associated with Inflammatory Bowel Disease 17 is IL23R (Interleukin 23 Receptor). Affiliated tissues include skin, colon and eye.

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the IL23R gene on chromosome 1p31.3.

Description from OMIM: 612261

Symptoms & Phenotypes for Inflammatory Bowel Disease 17

Clinical features from OMIM:

612261

Drugs & Therapeutics for Inflammatory Bowel Disease 17

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 17

Genetic Tests for Inflammatory Bowel Disease 17

Genetic tests related to Inflammatory Bowel Disease 17:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 17 29 IL23R

Anatomical Context for Inflammatory Bowel Disease 17

MalaCards organs/tissues related to Inflammatory Bowel Disease 17:

41
Skin, Colon, Eye

Publications for Inflammatory Bowel Disease 17

Variations for Inflammatory Bowel Disease 17

ClinVar genetic disease variations for Inflammatory Bowel Disease 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IL23R NM_144701.2(IL23R): c.1142G> A (p.Arg381Gln) single nucleotide variant protective rs11209026 GRCh37 Chromosome 1, 67705958: 67705958
2 IL23R NM_144701.2(IL23R): c.1142G> A (p.Arg381Gln) single nucleotide variant protective rs11209026 GRCh38 Chromosome 1, 67240275: 67240275

Expression for Inflammatory Bowel Disease 17

Search GEO for disease gene expression data for Inflammatory Bowel Disease 17.

Pathways for Inflammatory Bowel Disease 17

GO Terms for Inflammatory Bowel Disease 17

Sources for Inflammatory Bowel Disease 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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