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 14 ID (Ontology) DOID:0060821 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.
Also Known As "mental retardation, X-linked, syndromic 14"
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 syndromic X-linked intellectual disability 14       1
 for disease ribbon | syndromic X-linked intellectual disability 14       1
 model of | syndromic X-linked intellectual disability 14       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 14  1 rec.
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Synonyms
  • "mental retardation, X-linked, syndromic 14" EXACT
Secondary IDs
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MESH:C537724
MIM:300676
ORDO:323
ORDO:776
SNOMEDCT_US_2023_03_01:422437002
UMLS_CUI:C0796022