| Metadata | |
|---|---|
| ID | DOID:0112103 |
| Name | Sotos syndrome 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/14517949/, https://pubmed.ncbi.nlm.nih.gov/11896389/ |
| Xrefs | |
| Synonyms |
SOTOS1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Sotos syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |