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Disease Ontology Browser
Potocki-Lupski syndrome (DOID:0060853)
Alliance: disease page
Synonyms: 17p11.2 microduplication syndrome; chromosome 17p11.2 duplication syndrome; trisomy 17p11.2
Alt IDs: OMIM:610883, ICD10CM:Q92.3, MESH:C536578, ORDO:1713, UMLS_CUI:C2931246
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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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