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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:Trichomegaly is increased length, curling, pigmentation or thickness of eyelashes. (PMID:26288407)
Synonyms:exact_synonym: EYELASHES, LONG;   TCMGLY;   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 Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr10:46,768,539...46,783,889
Ensembl chr10:46,768,539...46,783,889
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:17384640, PMID:19592391, PMID:22843165, PMID:23065766, PMID:23652419, PMID:24005482, PMID:24407472, PMID:25741868, PMID:30311386 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Dip2b disco-interacting protein 2 homolog B ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 7:141,702,034...141,878,945
Ensembl chr 7:141,702,038...141,879,951
JBrowse link
G Fgf5 fibroblast growth factor 5 ISO ClinVar Annotator: match by term: Trichomegaly OMIM
ClinVar
PMID:24989505 NCBI chr14:12,974,921...12,996,046
Ensembl chr14:12,974,921...12,995,584
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr  X:35,970,650...36,926,616 JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:24829207, PMID:30311386 NCBI chr 6:91,455,333...91,456,709
Ensembl chr 6:91,455,333...91,456,696
Ensembl chr 3:91,455,333...91,456,696
Ensembl chr 7:91,455,333...91,456,696
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:30311386 NCBI chr10:106,208,308...106,340,747 JBrowse link
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Long eyelashes ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        eyelid disease 111
          familial isolated trichomegaly 14
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                familial isolated trichomegaly 14
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.