FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term non-syndromic X-linked intellectual disability 30 ID (Ontology) DOID:0112051 (Human Disease)
Definition A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.
Also Known As "MRX30" ; "MRX47" ; "X-linked mental retardation 30" (for all, see Synonyms field below)
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 Genes
 non-syndromic X-linked intellectual disability 30       2
 for disease ribbon | non-syndromic X-linked intellectual disability 30       2
 model of | non-syndromic X-linked intellectual disability 30       2
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__non-syndromic X-linked intellectual disability__
 |__X-linked recessive disease______________________|
non-syndromic intellectual disability               |
 |__non-syndromic X-linked intellectual disability__|
                                                    non-syndromic X-linked intellectual disability 30  2 rec.
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Is a non-syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "MRX30" EXACT OMO:0003012
    "MRX47" EXACT OMO:0003012
    "X-linked mental retardation 30" EXACT
    "X-linked mental retardation 30/47" EXACT
    "X-linked mental retardation 47" EXACT
Secondary IDs
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MIM:300558