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DO Term : Sotos syndrome 1 [DOID:0112103] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene.

synonyms:
OMIM:117550,
117550,
SOTOS1

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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