ZFIN Human Disease: lymphedema-distichiasis syndrome

OBO ID: DOID:0111509

Term Name:	lymphedema-distichiasis syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER lymphedema-distichiasis syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FOXC2		Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
		Lymphedema-distichiasis syndrome

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None