| Metadata | |
|---|---|
| ID | DOID:0070699 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070699 Copy |
| Name | STAD syndrome |
| Definition | A syndrome characterized by a skeletal dysplasia consisting of advanced bone maturation, short and dysplastic bones, and disproportionate body measurements; facial dysmorphisms and dental anomalies; and neurodevelopmental delays ranging in severity from isolated fine motor delays to impaired intellectual development that has_material_basis_in heterozygous mutation in the PTBP1 gene on chromosome 19p13. https://pmc.ncbi.nlm.nih.gov/articles/PMC12618068/#sd |
| Xrefs | |
| SKOS |
exactMatch MIM:621495 |
| Subsets |
DO_rare_slim |
| Synonyms |
skeletal dysplasia, tooth anomalies, and developmental delay syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |