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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 929 | CD14 | CD14 molecule | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2026 | ENO2 | enolase 2 | |
| 2271 | FH | fumarate hydratase | |
| 2674 | GFRA1 | GDNF family receptor alpha 1 | |
| 2675 | GFRA2 | GDNF family receptor alpha 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 |
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 |
