MCID: INF068
MIFTS: 17

Inflammatory Bowel Disease 13

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

Aliases & Classifications for Inflammatory Bowel Disease 13

MalaCards integrated aliases for Inflammatory Bowel Disease 13:

Name: Inflammatory Bowel Disease 13 57 12 75 29 13 73
Ibd13 57 12 75
Inflammatory Bowel Disease 13, Susceptibility to 6
Bowel Disease, Inflammatory, Type 13 40

Classifications:



External Ids:

OMIM 57 612244
Disease Ontology 12 DOID:0110893
MedGen 42 C2677101
MeSH 44 D015212
SNOMED-CT via HPO 69 24526004 302168000
UMLS 73 C2677101

Summaries for Inflammatory Bowel Disease 13

UniProtKB/Swiss-Prot : 75 Inflammatory bowel disease 13: 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 13, is also known as ibd13. An important gene associated with Inflammatory Bowel Disease 13 is ABCB1 (ATP Binding Cassette Subfamily B Member 1). Affiliated tissues include skin, colon and eye, and related phenotype is inflammation of the large intestine.

Disease Ontology : 12 An inflammatory bowel disease that has material basis in variation in the ABCB1 gene on chromosome 7q21.1.

Description from OMIM: 612244

Symptoms & Phenotypes for Inflammatory Bowel Disease 13

Clinical features from OMIM:

612244

Human phenotypes related to Inflammatory Bowel Disease 13:

32
# Description HPO Frequency HPO Source Accession
1 inflammation of the large intestine 32 HP:0002037

Drugs & Therapeutics for Inflammatory Bowel Disease 13

Search Clinical Trials , NIH Clinical Center for Inflammatory Bowel Disease 13

Genetic Tests for Inflammatory Bowel Disease 13

Genetic tests related to Inflammatory Bowel Disease 13:

# Genetic test Affiliating Genes
1 Inflammatory Bowel Disease 13 29 ABCB1

Anatomical Context for Inflammatory Bowel Disease 13

MalaCards organs/tissues related to Inflammatory Bowel Disease 13:

41
Skin, Colon, Eye

Publications for Inflammatory Bowel Disease 13

Variations for Inflammatory Bowel Disease 13

ClinVar genetic disease variations for Inflammatory Bowel Disease 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB1 ABCB1, ALA893SER/THR undetermined variant risk factor

Expression for Inflammatory Bowel Disease 13

Search GEO for disease gene expression data for Inflammatory Bowel Disease 13.

Pathways for Inflammatory Bowel Disease 13

GO Terms for Inflammatory Bowel Disease 13

Sources for Inflammatory Bowel Disease 13

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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