| Metadata | |
|---|---|
| ID | DOID:0112103 |
| PURL | http://purl.obolibrary.org/obo/DOID_0112103 Copy |
| Name | Sotos syndrome |
| Definition | A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life and 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 |
SNOMEDCT_US_2025_09_01:75968004 |
| Alternateids |
DOID:14748 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
cerebral gigantism [EXACT] SOTOS [EXACT] Sotos syndrome 1 [EXACT] SOTOS1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some gene |