| Metadata | |
|---|---|
| ID | DOID:1933 |
| PURL | http://purl.obolibrary.org/obo/DOID_1933 Copy |
| Name | Rubinstein-Taybi syndrome |
| Definition | A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome, http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome, https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome |
| Xrefs |
SNOMEDCT_US_2025_09_01:157032007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Broad Thumb-Hallux syndrome [EXACT] proximal chromosome 16p13.3 deletion syndrome [EXACT] Rubinstein syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a chromosomal deletion syndrome is_a syndrome |
| Subclass Logical Relationships |
disease has location some big toe disease has location some thumb has material basis in some autosomal dominant inheritance has material basis in some deletion and has material basis in some chromosome |