chromosome 17p13.3 duplication syndrome

Term ID

DOID:0060432

Synonyms

• 17p13.3 duplication syndrome
• 17p13.3 microduplication syndrome
• chromosome 17p13.3 centromeric duplication syndrome
• trisomy 17p13.3

Definition

A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. https://pubmed.ncbi.nlm.nih.gov/19136950/

References

• ICD10CM:Q92.3
• MESH:C567705
• OMIM:613215
• ORDO:217385

Ontology

Human Disease   ( DOID:0060432 )