| Metadata | |
|---|---|
| ID | DOID:2962 |
| Name | Cockayne syndrome |
| Definition | A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. http://en.wikipedia.org/wiki/Cockayne_syndrome, https://medlineplus.gov/genetics/condition/cockayne-syndrome/, https://www.ncbi.nlm.nih.gov/books/NBK1342/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:205832003 |
| SKOS |
exactMatch MESH:D003057 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Cockayne's syndrome [RELATED] Neill-Dingwall syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |