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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:familial isolated trichomegaly
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Accession:DOID:0111566 term browser browse the term
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. (DO)
Synonyms:exact_synonym: TCMGLY;   long eyelashes;   trichomegaly
 primary_id: OMIM:190330
 alt_id: DOID:9001840
 xref: ORDO:411788


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familial isolated trichomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: Trichomegaly OMIM
ClinVar		 PMID:24989505 NCBI chr14:11,323,827...11,346,164
Ensembl chr14:11,325,334...11,345,997 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      integumentary system disease 3960
        hair disease 328
          familial isolated trichomegaly 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                familial isolated trichomegaly 1
paths to the root