Hirschsprung Disease 2 (HSCR2)

Alias:
Hirschsprung Disease, Susceptibility to, 2
Hirschsprung Disease Type 2
Hscr2
Hirschsprung Disease, Susceptibility to, Type 2
Aganglionic Megacolon
Hirschsprung Disease
Mgc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hirschsprung Disease 2, also known as hirschsprung disease, susceptibility to, 2, is related to waardenburg syndrome, type 4a and hirschsprung disease 1. An important gene associated with Hirschsprung Disease 2 is EDNRB (Endothelin Receptor Type B). The drugs Acidophilus and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include colon and heart, and related phenotype is aganglionic megacolon.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
52
21

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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