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DO Term : Wilson-Turner syndrome [DOID:0060814] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12.

synonyms:
309585,
WTS,
GARD:5579,
MRXS6,
mental retardation, X-linked, with gynecomastia and obesity,
OMIM:309585,
mental retardation, X-linked, syndromic 6,
ORDO:3459,
X-linked intellectual disability-gynecomastia-obesity syndrome

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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