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Standards Ontologies Notations
Noonan syndrome with multiple lentigines 1

Summary
Synonym
  • LEOPARD syndrome 1
Definition
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.
Super Class
Noonan syndrome with multiple lentigines
Disease Ontology
DOID:0080548
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5781 PTPN11 protein tyrosine phosphatase non-receptor type 11
Displaying 1 entry
Gene ID Gene Symbol Description Source
19247 Ptpn11 protein tyrosine phosphatase, non-receptor type 11
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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: December 9, 2024