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DO Term : chromosome Xp11.22 duplication syndrome [DOID:0112037] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes.

synonyms:
300705,
Xp11.22 microduplication syndrome,
MRX31,
MRX17,
OMIM:300705,
X-linked mental retardation 31,
X-linked mental retardation 17

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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