FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 18p deletion syndrome ID (Ontology) DOID:0060406 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18.
Also Known As "18p- syndrome" ; "De Grouchy syndrome" ; "monosomy 18p"
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autosomal genetic disease
 |__autosomal dominant disease_____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
                                   chromosome 18p deletion syndrome
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Is a autosomal dominant disease
chromosomal deletion syndrome
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Synonyms
  • "18p- syndrome" EXACT
    "De Grouchy syndrome" EXACT
    "monosomy 18p" EXACT
Secondary IDs
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GARD:8631
MESH:C538309
MIM:146390
NCI:C84521
ORDO:1598
SNOMEDCT_US_2023_03_01:205632001
UMLS_CUI:C0432442