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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 FGF5 on chromosome 4q21.21. (DO)
Synonyms:exact_synonym: TCMGLY;   long eyelashes;   trichomegaly
 primary_id: OMIM:190330
 alt_id: DOID:9001840
 xref: ORDO:411788
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr14:11,325,334...11,346,570
Ensembl chr14:11,325,334...11,345,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        eyelid disease 105
          familial isolated trichomegaly 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                familial isolated trichomegaly 1
paths to the root