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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 |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 929 | CD14 | CD14 molecule | |
| 1910 | EDNRB | endothelin receptor type B | |
| 2064 | ERBB2 | erb-b2 receptor tyrosine kinase 2 | |
| 2668 | GDNF | glial cell derived neurotrophic factor | |
| 2674 | GFRA1 | GDNF family receptor alpha 1 | |
| 3549 | IHH | Indian hedgehog signaling molecule | |
| 3688 | ITGB1 | integrin subunit beta 1 | |
| 3815 | KIT | KIT proto-oncogene, receptor tyrosine kinase | |
| 4804 | NGFR | nerve growth factor receptor |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 18211 | Ntrk1 | neurotrophic tyrosine kinase, receptor, type 1 | |
| 19713 | Ret | ret proto-oncogene | |
| 20423 | Shh | sonic hedgehog | |
| 20525 | Slc2a1 | solute carrier family 2 (facilitated glucose transporter), member 1 | |
| 20907 | Stx1a | syntaxin 1A (brain) | |
| 22423 | Wnt8b | wingless-type MMTV integration site family, member 8B | |
| 24136 | Zeb2 | zinc finger E-box binding homeobox 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 30144 | wnt8b | wingless-type MMTV integration site family, member 8b | |
| 30256 | kita | KIT proto-oncogene, receptor tyrosine kinase a | |
| 30512 | ret | ret proto-oncogene receptor tyrosine kinase | |
| 79376 | gfra1a | gdnf family receptor alpha 1a | |
| 79377 | gfra1b | gdnf family receptor alpha 1b | |
| 114549 | ache | acetylcholinesterase (Yt blood group) |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 373579 | kit.L | KIT proto-oncogene receptor tyrosine kinase L homeolog | Xenopus laevis (African clawed frog) | |
| 373625 | ret.S | ret proto-oncogene S homeolog | Xenopus laevis (African clawed frog) | |
| 399098 | wnt8b.S | Wnt family member 8B S homeolog | Xenopus laevis (African clawed frog) | |
| 779087 | gdnf.L | glial cell derived neurotrophic factor L homeolog | Xenopus laevis (African clawed frog) | |
| 100125202 | gfra1 | GDNF family receptor alpha 1 | Xenopus tropicalis (tropical clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 174462 | let-23 | Receptor tyrosine-protein kinase let-23;receptor protein-tyrosine kinase | |
| 175076 | ace-3 | Carboxylic ester hydrolase | |
| 175504 | pat-3 | Integrin beta pat-3 | |
| 180349 | grd-2 | Ground-like domain-containing protein | |
| 180638 | wrt-6 | Warthog protein 6 N-product | |
| 181706 | ace-1 | Acetylcholinesterase 1 | |
| 186632 | ver-4 | Tyrosine-protein kinase receptor ver-4 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002019 | Constipation |
| HP:0200008 | Intestinal polyposis |
| HP:0001531 | Failure to thrive in infancy |
| HP:0005214 | Intestinal obstruction |
| HP:0001181 | Adducted thumb |
| HP:0002251 | Aganglionic megacolon |
| HP:0100031 | Neoplasm of the thyroid gland |
| HP:0002014 | Diarrhea |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002027 | Abdominal pain |
