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DO Term : Potocki-Lupski syndrome [DOID:0060853] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.

synonyms:
GARD:10145,
trisomy 17p11.2,
610883,
ORDO:1713,
OMIM:610883,
chromosome 17p11.2 duplication syndrome,
MESH:C538355,
SNOMEDCT_US_2023_03_01:734016004,
17p11.2 microduplication syndrome,
UMLS_CUI:C2931246,
NCI:C124846

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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