| Metadata | |
|---|---|
| ID | DOID:0111509 |
| Name | lymphedema-distichiasis syndrome |
| Definition | A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. https://www.ncbi.nlm.nih.gov/pubmed/11078474 |
| Xrefs |
SNOMEDCT_US_2023_03_01:8634009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
LPHDST [EXACT] lymphedema with distichiasis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |