Details of Disease | DrugMAP

General Information of Disease (ID: DISPTD6F)

Disease Name	Hirschsprung disease, susceptibility to, 2
Synonyms	susceptibility to Hirschsprung disease 2; HSCR2; Hirschsprung disease type 2; Hirschsprung disease, susceptibility to, type 2; Hirschsprung disease, susceptibility to, 2; EDNRB Hirschsprung disease; Hirschsprung disease caused by mutation in EDNRB
Definition	An inherited susceptibility or predisposition to developing Hirschsprung disease Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene.
Disease Hierarchy	DISUXR33: Hirschsprung disease, susceptibility to DISPTD6F: Hirschsprung disease, susceptibility to, 2
Disease Identifiers	MONDO ID MONDO_0010833 UMLS CUI C1838564 OMIM ID 600155 MedGen ID 374002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EDNRB	TT3ZTGU	Limited	Unknown	[1]
EDNRB	TT3ZTGU	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDNRB	OTLLZV3P	Limited	Unknown	[1]
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References

1	ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am J Med Genet. 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172.
2	EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Hum Mutat. 2017 May;38(5):581-593. doi: 10.1002/humu.23206. Epub 2017 Mar 15.