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DO Term : syndromic X-linked intellectual disability Shashi type [DOID:0060826] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26.

synonyms:
SMRXS,
Shashi X-linked mental retardation syndrome,
syndromic X-linked intellectual disability type 11,
ICD10CM:Q87.8,
MRXS11,
ORDO:85286,
300238,
OMIM:300238,
mental retardation, X-linked, syndromic 11, Shashi type,
X-linked mental retardation Shashi type

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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