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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
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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) | |
| 19713 | Ret | ret proto-oncogene |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07949 | Proto-oncogene tyrosine-protein kinase receptor Ret | |
| P24530 | Endothelin receptor type B | |
| P39905 | Glial cell line-derived neurotrophic factor | |
| Q15465 | Sonic hedgehog protein | |
| Q16623 | Syntaxin-1A | |
| Q93098 | Protein Wnt-8b |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A0A7R7YCZ3 | GDNF family receptor alpha | |
| P09055 | Integrin beta-1 | |
| P35546 | Proto-oncogene tyrosine-protein kinase receptor Ret | |
| P48302 | Endothelin receptor type B | |
| P48540 | Glial cell line-derived neurotrophic factor | |
| P97812 | Indian hedgehog protein | |
| Q80Y89 | receptor protein-tyrosine kinase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21451 | Endothelin receptor type B |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A8E7C6 | Proto-oncogene tyrosine-protein kinase receptor Ret |
- 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 |
