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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 |
|---|---|---|---|
| 11423 | Ache | acetylcholinesterase | |
| 12475 | Cd14 | CD14 antigen | |
| 13618 | Ednrb | endothelin receptor type B | |
| 13866 | Erbb2 | erb-b2 receptor tyrosine kinase 2 | |
| 14573 | Gdnf | glial cell line derived neurotrophic factor | |
| 14585 | Gfra1 | glial cell line derived neurotrophic factor family receptor alpha 1 | |
| 16147 | Ihh | Indian hedgehog | |
| 16412 | Itgb1 | integrin beta 1 (fibronectin receptor beta) | |
| 16590 | Kit | KIT proto-oncogene receptor tyrosine kinase | |
| 18053 | Ngfr | nerve growth factor receptor (TNFR superfamily, member 16) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24511 | Itgb1 | integrin subunit beta 1 | |
| 24596 | Ngfr | nerve growth factor receptor | |
| 24716 | Ret | ret proto-oncogene | |
| 24778 | Slc2a1 | solute carrier family 2 member 1 | |
| 25453 | Gdnf | glial cell derived neurotrophic factor | |
| 25454 | Gfra1 | GDNF family receptor alpha 1 | |
| 29499 | Shh | sonic hedgehog signaling molecule | |
| 50672 | Ednrb | endothelin receptor type B | |
| 59109 | Ntrk1 | neurotrophic receptor tyrosine kinase 1 | |
| 60350 | Cd14 | CD14 molecule |
| 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 |
