| Metadata | |
|---|---|
| ID | DOID:1933 |
| 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_2023_03_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 (thumb and big toe) has material basis in some autosomal dominant inheritance has material basis in some deletion and has material basis in some chromosome |