GlyCosmos Portal

Hirschsprung's disease

Synonym

Definition

A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.

Super Class

megacolon

Disease Ontology

DOID:10487

Mondo Disease Ontology

MeSH

UMLS

NCI Thesaurus

ORDO

OMIM

GARD

MGI genotype (from TogoID)

Related Genes

Displaying entries **31 - 34** of 34 in total

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Gene ID	Gene Symbol	Description	Source
93210	PGAP3	post-GPI attachment to proteins phospholipase 3	DisGeNET
126792	B3GALT6	beta-1,3-galactosyltransferase 6	DisGeNET
283871	PGP	phosphoglycolate phosphatase	DisGeNET
284098	PIGW	phosphatidylinositol glycan anchor biosynthesis class W	DisGeNET

Related Glycoprotein

Displaying entries **11 - 20** of 27 in total

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UniProt ID	Protein Name	Source
P21964	Catechol O-methyltransferase	DisGeNET DisGeNET
P22303	Acetylcholinesterase	DisGeNET
P32004	Neural cell adhesion molecule L1	DisGeNET
P37287	Phosphatidylinositol N-acetylglucosaminyltransferase subunit A	DisGeNET
P48736	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	DisGeNET
P56159	GDNF family receptor alpha-1	DisGeNET
Q7Z7B1	Phosphatidylinositol-glycan biosynthesis class W protein	DisGeNET
Q8N6G5	Chondroitin sulfate N-acetylgalactosaminyltransferase 2	DisGeNET
Q8TEQ8	GPI ethanolamine phosphate transferase 3	DisGeNET
Q96FM1	Post-GPI attachment to proteins factor 3	DisGeNET