| Metadata | |
|---|---|
| ID | DOID:1925 |
| Name | Coffin-Siris syndrome |
| Definition | An autosomal dominant non-syndromic intellectual disability that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome, http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465 |
| Xrefs |
SNOMEDCT_US_2020_03_01:10007009 UMLS_CUI:C0265338 |
| Subsets |
NCIthesaurus |
| Synonyms |
Dwarfism-Onychodysplasia [EXACT] Fifth Digit Syndrome [EXACT] Short Stature-Onychodysplasia. [EXACT] |
| Parent Relationships |
is_a syndrome is_a autosomal dominant non-syndromic intellectual disability |