cleft lip

Summary
Synonym
  • Labium leporinum
  • cheiloschisis
  • cleft lip, unilateral, complete
  • complete unilateral cleft lip
  • hare lip
Definition
An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
Super Class
lip disease orofacial cleft
External Links
Disease Ontology
DOID:9296
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
2218 FKTN fukutin
2571 GAD1 glutamate decarboxylase 1
2719 GPC3 glypican 3
5648 MASP1 MBL associated serine protease 1
6383 SDC2 syndecan 2
8658 TNKS tankyrase
8897 MTMR3 myotubularin related protein 3
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10584 COLEC10 collectin subfamily member 10
10585 POMT1 protein O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
99011 Pomt1 protein-O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
37447 Sdc Syndecan
39297 rt rotated abdomen
Displaying 1 entry
Gene ID Gene Symbol Description Source
569769 pomt1 protein-O-mannosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
Related Glycoprotein
Displaying entries 11 - 13 of 13 in total
UniProt ID Protein Name Source
Q9UKY4 Protein O-mannosyl-transferase 2
Q9Y6A1 Protein O-mannosyl-transferase 1
Q9Y6Z7 Collectin-10

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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