FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosomal duplication syndrome ID (Ontology) DOID:0060429 (Human Disease)
Definition A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
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  genetic disease
   |__chromosomal disease
       |__chromosomal duplication syndrome  50 rec.
           |__7q11.23 duplication syndrome
           |__autosomal dominant nonsyndromic deafness 51
           |__chromosome 1p36.33 duplication syndrome
           |__chromosome 1q21.1 duplication syndrome
           |__chromosome 2q31.1 duplication syndrome
           |__chromosome 3q29 microduplication syndrome
           |__chromosome 5p13 duplication syndrome
           |__chromosome 11 partial duplication syndrome
           |__chromosome 16p11.2 duplication syndrome
           |__chromosome 16p13.3 duplication syndrome
           |__chromosome 17p13.3 duplication syndrome
           |__chromosome 17q12 duplication syndrome
           |__chromosome 17q21.31 duplication syndrome
           |__chromosome 22q11.2 microduplication syndrome
           |__chromosome 22q13 duplication syndrome
           |__chromosome Xp11.23-p11.22 duplication syndrome
           |__Down syndrome 46 rec.
           |__Edwards syndrome
           |__hereditary mixed polyposis syndrome 1
           |__Klinefelter syndrome
           |__partial trisomy distal 4q
           |__Potocki-Lupski syndrome
           |__split hand-foot malformation 3
           |__syndactyly type 1
           |__syndromic X-linked intellectual disability Lubs type 4 rec.
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