Visualize Submit Comment
Metadata
ID DOID:0060853
Name Potocki-Lupski syndrome
Definition A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2.
https://www.ncbi.nlm.nih.gov/pubmed/10615134, https://www.ncbi.nlm.nih.gov/pubmed/20425816
Xrefs

GARD:10145

MESH:C538355

NCI:C124846

OMIM:610883

ORDO:1713

SNOMEDCT_US_2020_09_01:734016004

UMLS_CUI:C2931246

Subsets

NCIthesaurus

Synonyms

17p11.2 microduplication syndrome [EXACT]

chromosome 17p11.2 duplication syndrome [EXACT]

trisomy 17p11.2 [EXACT]

Parent Relationships

is_a chromosomal duplication syndrome

Add an item to the term tracker