lymphedema-distichiasis syndrome

Term ID

DOID:0111509

Synonyms

• LPHDST
• lymphedema with distichiasis

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

References

• GARD:333
• MESH:C537710
• NCI:C128191
• OMIM:153400
• ORDO:33001
• SNOMEDCT_US_2023_03_01:8634009
• UMLS_CUI:C0265345

Ontology

Human Disease   ( DOID:0111509 )