FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term syndromic X-linked intellectual disability Hedera type ID (Ontology) DOID:0060806 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
Also Known As "mental retardation, X-linked, syndromic, Hedera type" ; "MRXE" ; "MRXSH" (for all, see Synonyms field below)
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 syndromic X-linked intellectual disability Hedera type       1      1
 for disease ribbon | syndromic X-linked intellectual disability Hedera type       1       --
 model of | syndromic X-linked intellectual disability Hedera type       1       --
Spanning Tree (Parents/Children)
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__syndromic X-linked intellectual disability Hedera type  2 rec.
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "mental retardation, X-linked, syndromic, Hedera type" EXACT
    "MRXE" EXACT OMO:0003012
    "MRXSH" EXACT OMO:0003012
    "X-linked mental retardation with epilepsy" EXACT
Secondary IDs
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MIM:300423
ORDO:93952