familial isolated trichomegaly

Term ID

DOID:0111566

Synonyms

• long eyelashes
• TCMGLY

Definition

An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in the FGF5 gene on chromosome 4q21.21. https://www.ncbi.nlm.nih.gov/pubmed/24989505

References

• OMIM:190330
• ORDO:411788

Ontology

Human Disease   ( DOID:0111566 )