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Standards Ontologies Notations
lissencephaly

Summary
Definition
A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
Super Class
congenital nervous system abnormality
External Links
Disease Ontology
DOID:0050453
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 42 in total
Gene ID Gene Symbol Description Source
250 ALPP alkaline phosphatase, placental
412 STS steroid sulfatase
523 ATP6V1A ATPase H+ transporting V1 subunit A
945 CD33 CD33 molecule
952 CD38 CD38 molecule
1312 COMT catechol-O-methyltransferase
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1605 DAG1 dystroglycan 1
1718 DHCR24 24-dehydrocholesterol reductase
1738 DLD dihydrolipoamide dehydrogenase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
68273 Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
99011 Pomt1 protein-O-mannosyltransferase 1
217734 Pomt2 protein-O-mannosyltransferase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
362567 Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
36773 Dg Dystroglycan
39297 rt rotated abdomen
Displaying all 3 entries
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
569769 pomt1 protein-O-mannosyltransferase 1
571876 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Displaying all 7 entries
Gene ID Gene Symbol Description Source Organism
414570 pomgnt1.L protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) L homeolog Xenopus laevis (African clawed frog)
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
495292 pomgnt1.S protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog Xenopus laevis (African clawed frog)
100158594 pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Xenopus tropicalis (tropical clawed frog)
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
Related Glycoprotein
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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