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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 |
|---|---|---|---|
| 27255 | CNTN6 | contactin 6 | |
| 27315 | PGAP2 | post-GPI attachment to proteins 2 | |
| 53942 | CNTN5 | contactin 5 | |
| 55454 | CSGALNACT2 | chondroitin sulfate N-acetylgalactosaminyltransferase 2 | |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E | |
| 64096 | GFRA4 | GDNF family receptor alpha 4 | |
| 80271 | ITPKC | inositol-trisphosphate 3-kinase C | |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O | |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y |
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 |
