FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 1q21.1 deletion syndrome ID (Ontology) DOID:0060411 (Human Disease)
Definition A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.
Also Known As "1q21.1 microdeletion syndrome"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 chromosome 1q21.1 deletion syndrome       2      2
 model of | chromosome 1q21.1 deletion syndrome       2       --
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 1q21.1 deletion syndrome  4 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "1q21.1 microdeletion syndrome" EXACT
    "monosomy 1q21.1" RELATED
Secondary IDs
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GARD:10813
ICD10CM:Q93.5
MIM:612474
ORDO:250989