imperforate anus

Summary
Synonym
  • Congenital atresia of anus
  • Congenital or infantile occlusion of anus
  • anal atresia
Super Class
anus disease physical disorder
External Links
Disease Ontology
DOID:10488
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
1312 COMT catechol-O-methyltransferase
2218 FKTN fukutin
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
29954 POMT2 protein O-mannosyltransferase 2
79147 FKRP fukutin related protein
84720 PIGO phosphatidylinositol glycan anchor biosynthesis class O
145173 B3GLCT beta 3-glucosyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024