Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
colon
rectum |
| gptkbp:alsoKnownAs |
gptkb:congenital_aganglionic_megacolon
|
| gptkbp:associatedWith |
gptkb:Down_syndrome
gptkb:Waardenburg_syndrome RET gene mutation |
| gptkbp:causedBy |
absence of ganglion cells
failure of neural crest cell migration |
| gptkbp:commonIn |
males
|
| gptkbp:complication |
sepsis
intestinal perforation enterocolitis |
| gptkbp:diagnosedBy |
anorectal manometry
contrast enema rectal biopsy |
| gptkbp:firstDescribed |
gptkb:Harald_Hirschsprung
1888 |
| https://www.w3.org/2000/01/rdf-schema#label |
Hirschsprung's disease
|
| gptkbp:ICD-10_code |
Q43.1
|
| gptkbp:inheritance |
multifactorial
|
| gptkbp:MeSH_ID |
D006629
|
| gptkbp:OMIM |
142623
|
| gptkbp:prevalence |
1 in 5000 live births
|
| gptkbp:symptom |
vomiting
constipation abdominal distension failure to pass meconium |
| gptkbp:treatment |
surgical resection
pull-through procedure |
| gptkbp:bfsParent |
gptkb:RET
gptkb:RET_proto-oncogene |
| gptkbp:bfsLayer |
5
|