ZFIN Human Disease: Sotos syndrome 1

OBO ID: DOID:0112103

Term Name:	Sotos syndrome 1		Search Ontology:
Synonyms:	SOTOS1
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. (2)
References:	OMIM:117550
Ontology:	Human Disease ( DOID:0112103 )

Relationships

is a type of:	autosomal dominant disease Sotos syndrome autosomal dominant disease Sotos syndrome Show first 5 Terms

OTHER Sotos syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NSD1	nsd1a nsd1b	Sotos syndrome	117550

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None