FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Van Esch-O'Driscoll syndrome ID (Ontology) DOID:0111840 (Human Disease)
Definition A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3.
Also Known As "MRXSVEOD" ; "VEODS" ; "X-linked intellectual disability, Van Esch type" (for all, see Synonyms field below)
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 Genes
 Van Esch-O'Driscoll syndrome       1
 for disease ribbon | Van Esch-O'Driscoll syndrome       1
 model of | Van Esch-O'Driscoll syndrome       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__|
                                                Van Esch-O'Driscoll syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
X-linked recessive disease
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Synonyms
  • "MRXSVEOD" EXACT OMO:0003012
    "VEODS" EXACT OMO:0003012
    "X-linked intellectual disability, Van Esch type" EXACT
    "X-linked syndromic mental retardation Van Esch-O'Driscoll type" EXACT
Secondary IDs
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MIM:301030
ORDO:163976