WormBase Tree Display for DO_term: DOID:0112103
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DOID:0112103 | Name | Sotos syndrome 1 | |||
---|---|---|---|---|---|
Status | Valid | ||||
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. | ||||
Synonym | Exact | SOTOS1 | |||
Parent | Is_a | DOID:14748 | |||
DOID:0050736 | |||||
DB_info | Database | OMIM | disease | 117550 | |
Attribute_of | Gene_by_orthology | WBGene00003222 |