Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:congenital fibrosis of the extraocular muscles 5
go back to main search page
Accession:DOID:0081020 term browser browse the term
Definition:A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: CFEOM5;   congenital fibrosis of extraocular muscles 5
 primary_id: OMIM:616219
 alt_id: DOID:9008337



show annotations for term's descendants           Sort by:
congenital fibrosis of the extraocular muscles 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col25a1 collagen type XXV alpha 1 chain ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25500261 PMID:25741868 PMID:31875546 NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    physical disorder 4941
      congenital fibrosis of the extraocular muscles 6
        congenital fibrosis of the extraocular muscles 5 1
Path 2
Term Annotations click to browse term
  disease 21147
    Pathological Conditions, Signs and Symptoms 13288
      Signs and Symptoms 10767
        Neurologic Manifestations 9997
          sensory system disease 6894
            eye disease 3451
              ocular motility disease 223
                ophthalmoplegia 72
                  congenital fibrosis of the extraocular muscles 6
                    congenital fibrosis of the extraocular muscles 5 1
paths to the root