Sotos syndrome 1

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Summary

Literature (0)

DOID:0112103 - Sotos syndrome 1

Disease Ontology Definition: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: SOTOS1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nsd1

MIM:

MIM:117550 - SOTOS SYNDROME; SOTOS

MIM:117550 - SOTOS SYNDROME; SOTOS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Sotos syndrome (is_a)