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DO Term : lymphedema-distichiasis syndrome [DOID:0111509] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
MESH:C537710,
NCI:C128191,
LPHDST,
SNOMEDCT_US_2023_03_01:8634009,
ORDO:33001,
GARD:333,
UMLS_CUI:C0265345,
153400,
OMIM:153400,
lymphedema with distichiasis

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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