FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Hirschsprung's disease ID (Ontology) DOID:10487 (Human Disease)
Definition A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Also Known As "aganglionic megacolon" ; "congenital megacolon" ; "Hirschsprung disease" (for all, see Synonyms field below)
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       2
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 Alleles Genes Human Disease Models
 Hirschsprung's disease       5      2      2
 model of | Hirschsprung's disease       5       --       --
Spanning Tree (Parents/Children)
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  colonic disease
   |__megacolon
       |__Hirschsprung's disease  9 rec.
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Is a megacolon
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Synonyms
  • "aganglionic megacolon" EXACT
    "congenital megacolon" EXACT
    "Hirschsprung disease" EXACT
    "macrocolon" EXACT
    "pelvirectal achalasia" EXACT
    "total intestinal aganglionosis" EXACT
Secondary IDs
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GARD:6660
ICD10CM:Q43.1
MESH:D006627
MIM:600156
MIM:606874
MIM:606875
MIM:608462
MIM:611644
NCI:C34700
ORDO:388
SNOMEDCT_US_2023_03_01:204739008
UMLS_CUI:C0019569