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DO Term : non-syndromic X-linked intellectual disability 1 [DOID:0112038] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.

synonyms:
X-linked mental retardation 18,
GARD:13221,
MRX18,
MRX78,
X-linked mental retardation 78,
OMIM:309530,
X-linked mental retardation 1/78,
309530,
MRX1,
X-linked mental retardation 1

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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