| Metadata | |
|---|---|
| ID | DOID:11725 |
| Name | Cornelia de Lange syndrome |
| Definition | A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. http://www.omim.org/entry/122470, http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract, http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:40354009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Brachmann de Lange syndrome [EXACT] De Lange syndrome [EXACT] |
| Parent Relationships |
is_a monogenic disease is_a syndrome |
| Subclass Logical Relationships |
disease has basis in some gene |