FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Noonan syndrome with multiple lentigines 1 ID (Ontology) DOID:0080548 (Human Disease)
Definition A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.
Also Known As "LEOPARD syndrome 1"
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Noonan syndrome with multiple lentigines 1       3      3      1
 ameliorates | Noonan syndrome with multiple lentigines 1       1       --       --
 for disease ribbon | Noonan syndrome with multiple lentigines 1       --       1       --
 model of | Noonan syndrome with multiple lentigines 1       2      1       --
 DOES NOT model | Noonan syndrome with multiple lentigines 1       1       --       --
Spanning Tree (Parents/Children)
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autosomal dominant disease__
RASopathy___________________|
                            Noonan syndrome with multiple lentigines
                             |__Noonan syndrome with multiple lentigines 1  7 rec.
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Is a Noonan syndrome with multiple lentigines
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Synonyms
  • "LEOPARD syndrome 1" EXACT
Secondary IDs
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MIM:151100