| Metadata | |
|---|---|
| ID | DOID:0111566 |
| Name | familial isolated trichomegaly |
| 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 compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. https://www.ncbi.nlm.nih.gov/pubmed/24989505 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
long eyelashes [EXACT] TCMGLY [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a eyelid disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |