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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

GARD:333

MESH:C537710

NCI:C128191

OMIM:153400

ORDO:33001

SNOMEDCT_US_2023_03_01:8634009

UMLS_CUI:C0265345

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

LPHDST [EXACT]

lymphedema with distichiasis [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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