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Metadata
ID DOID:0060432
Name chromosome 17p13.3 duplication syndrome
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/
Xrefs

ICD10CM:Q92.3

MESH:C567705

MIM:613215

ORDO:217385

Subsets

DO_rare_slim

Synonyms

17p13.3 duplication syndrome [EXACT]

17p13.3 microduplication syndrome [EXACT]

chromosome 17p13.3 centromeric duplication syndrome [EXACT]

trisomy 17p13.3 [EXACT]

Parent Relationships

is_a chromosomal duplication syndrome

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