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 5 ID (Ontology) DOID:0060800 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22.
Also Known As "Fried syndrome" ; "Mental retardation, X-linked syndromic 5" ; "MRX59" (for all, see Synonyms field below)
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 Genes
 syndromic X-linked intellectual disability 5       1
 for disease ribbon | syndromic X-linked intellectual disability 5       1
 model of | syndromic X-linked intellectual disability 5       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__syndromic X-linked intellectual disability__
 |__X-linked recessive disease__________________|
syndromic intellectual disability               |
 |__syndromic X-linked intellectual disability__|
                                                syndromic X-linked intellectual disability 5  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "Fried syndrome" EXACT
    "Mental retardation, X-linked syndromic 5" EXACT
    "MRX59" EXACT OMO:0003012
    "MRXS21" EXACT OMO:0003012
    "Pettigrew syndrome" EXACT
    "syndromic X-linked mental retardation 21" EXACT
    "syndromic X-linked mental retardation Fried type" EXACT
    "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT
    "X-linked mental retardation 59" EXACT
    "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT
Secondary IDs
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MESH:C535773
MIM:304340
NCI:C124839
ORDO:1568
ORDO:85335
SNOMEDCT_US_2023_03_01:719139003
UMLS_CUI:C0796254