Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Gastroenteritis (D005759)
Parent Node: Intestinal Diseases (D007410)
..Starting node ..Inflammatory Bowel Diseases (D015212)
Child Nodes:
........Colitis, Ulcerative (D003093) 1
........Crohn Disease (D003424) 1
........Inflammatory Bowel Disease 10 (C567021)
........Inflammatory Bowel Disease 11 (C567154)
........Inflammatory Bowel Disease 12 (C567388)
........Inflammatory Bowel Disease 13 (C567384)
........Inflammatory Bowel Disease 14 (C567383)
........Inflammatory Bowel Disease 15 (C567381)
........Inflammatory Bowel Disease 16 (C567380)
........Inflammatory Bowel Disease 17 (C567378)
........Inflammatory Bowel Disease 18 (C567377)
........Inflammatory Bowel Disease 19 (C567372)
........Inflammatory Bowel Disease 2 (C563310)
........Inflammatory Bowel Disease 20 (C567361)
........Inflammatory Bowel Disease 21 (C567338)
........Inflammatory Bowel Disease 22 (C567327)
........Inflammatory Bowel Disease 23 (C567326)
........Inflammatory Bowel Disease 24 (C567252)
........Inflammatory Bowel Disease 25, Autosomal Recessive (C567251)
........Inflammatory Bowel Disease 26 (C567217)
........Inflammatory Bowel Disease 27 (C567559)
........Inflammatory Bowel Disease 28, Autosomal Recessive (C567728)
........Inflammatory Bowel Disease 3 (C565764)
........Inflammatory Bowel Disease 4 (C564680)
........Inflammatory Bowel Disease 5 (C565234)
........Inflammatory Bowel Disease 6 (C564681)
........Inflammatory Bowel Disease 7 (C565353)
........Inflammatory Bowel Disease 8 (C564682)
........Inflammatory Bowel Disease 9 (C563926)
Sister Nodes:
..4-hydroxyphenylacetic aciduria (C535315)
..Cecal Diseases (D002429) 4
..Colonic Diseases (D003108) 78
..Duodenal Diseases (D004378) 20
..Dysentery (D004403) 3
..Enteritis (D004751) 4
..Enterocolitis (D004760) 3
..HIV Enteropathy (D019053)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Ileal Diseases (D007077) 3
..Inflammatory Bowel Diseases (D015212) 31
..Intestinal Atresia (D007409) 11
..Intestinal Diseases, Parasitic (D007411) 10
..Intestinal Fistula (D007412) 2
..Intestinal Neoplasms (D007414) 43
..Intestinal Obstruction (D007415) 31
..Intestinal Perforation (D007416)
..Intestinal Polyposis (D044483) 14
..Jejunal Diseases (D007579) 1
..Malabsorption Syndromes (D008286) 29
..Mesenteric Ischemia (D065666)
..Mesenteric Vascular Occlusion (D008641)
..Neuronal intestinal pseudoobstruction (C537394)
..Pneumatosis Cystoides Intestinalis (D011006)
..Protein-Losing Enteropathies (D011504) 1
..Rectal Diseases (D012002) 48
..Sitosterolemia (C537345)
..Vascular Hyalinosis (C564750)
..Zollinger-Ellison Syndrome (D015043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5822

Name:

Inflammatory Bowel Diseases

Definition:

Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.

Alternative IDs:

OMIM:266600

ParentIDs:

MESH:D005759|MESH:D007410

TreeNumbers:

C06.405.205.731 |C06.405.469.432

Synonyms:

Slim Mappings:

Digestive system disease

Reference:

MedGen: D015212
MeSH: D015212
OMIM: 266600;

Genes: IL6; NOD2;

Phenotypes

1	HP:0002027	Abdominal pain
2	HP:0002014	Diarrhea
3	HP:0001510	Growth delay
4	HP:0001425	Heterogeneous
5	HP:0005214	Intestinal obstruction
6	HP:0001426	Multifactorial inheritance
7	HP:0011107	Recurrent aphthous stomatitis
8	HP:0100279	Ulcerative colitis
9	HP:0001824	Weight loss

Disease Causing ClinVar Variants