Hirschsprung disease
Also known as HSCR, Hirschsprung disease susceptibility, Hirschsprung's disease, aganglionic megacolon+4 more
HSCR, Hirschsprung disease susceptibility, Hirschsprung's disease, aganglionic megacolon, congenital intestinal aganglionosis, congenital megacolon, pelvirectal achalasia, macrocolon.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Clinical trials
The current development programme across all trial phases.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
HSCR, Hirschsprung disease susceptibility, Hirschsprung's disease, aganglionic megacolon, congenital intestinal aganglionosis, congenital megacolon, pelvirectal achalasia, macrocolon
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Related entities are derived from literature co-mention (studied together) — associative, not causal.