FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 18q deletion syndrome ID (Ontology) DOID:0060407 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations.
Also Known As "18q- syndrome" ; "deletion 18q" ; "monosomy 18q"
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autosomal genetic disease
 |__autosomal dominant disease_____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
                                   chromosome 18q deletion syndrome
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Is a autosomal dominant disease
chromosomal deletion syndrome
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Synonyms
  • "18q- syndrome" EXACT
    "deletion 18q" EXACT
    "monosomy 18q" EXACT
Secondary IDs
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ICD10CM:Q93.5
MESH:C536580
MIM:601808
ORDO:1600