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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Hirschsprung's disease
Summary
- Synonym
-
- Hirschsprung disease
- aganglionic megacolon
- congenital megacolon
- macrocolon
- pelvirectal achalasia
- total intestinal aganglionosis
- Definition
- A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
- Super Class
- megacolon
External Links
- Disease Ontology
- DOID:10487
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 6513 | SLC2A1 | solute carrier family 2 member 1 | |
| 8808 | IL1RL2 | interleukin 1 receptor like 2 | |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
| 9536 | PTGES | prostaglandin E synthase | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
| 27181 | SIGLEC8 | sialic acid binding Ig like lectin 8 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96L58 | Beta-1,3-galactosyltransferase 6 | |
| Q9GZZ7 | GDNF family receptor alpha-4 | |
| Q9HB29 | Interleukin-1 receptor-like 2 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV | |
| Q9NYZ4 | Sialic acid-binding Ig-like lectin 8 | |
| Q9UQ52 | Contactin-6 |
