chromosomal duplication syndrome

Term ID

DOID:0060429

Synonyms

Definition

A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/

References

Ontology

Human Disease ( DOID:0060429 )

Relationships

is a type of: chromosomal disease

chromosomal disease Show first 5 Terms
has subtype: 7q11.23 duplication syndrome autosomal dominant nonsyndromic deafness 51 chromosome 1p36.33 duplication syndrome chromosome 1q21.1 duplication syndrome chromosome 2q31.1 duplication syndrome ... Show All 24 Terms

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 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 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 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations