FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term syndromic X-linked intellectual disability Shashi type ID (Ontology) DOID:0060826 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.
Also Known As "mental retardation, X-linked, syndromic 11, Shashi type" ; "MRXS11" ; "Shashi X-linked mental retardation syndrome" (for all, see Synonyms field below)
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__syndromic X-linked intellectual disability Shashi type
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Synonyms
  • "mental retardation, X-linked, syndromic 11, Shashi type" EXACT
    "MRXS11" EXACT OMO:0003012
    "Shashi X-linked mental retardation syndrome" EXACT
    "SMRXS" EXACT OMO:0003012
    "syndromic X-linked intellectual disability type 11" EXACT
    "X-linked mental retardation Shashi type" EXACT
Secondary IDs
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ICD10CM:Q87.8
MIM:300238
ORDO:85286