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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:congenital fibrosis of the extraocular muscles 5
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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:25500261 NCBI chr 2:218,755,152...219,154,348
Ensembl chr 2:218,755,691...219,153,501
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital fibrosis of the extraocular muscles 6
        congenital fibrosis of the extraocular muscles 5 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            cranial nerve disease 528
              ocular motility disease 160
                ophthalmoplegia 66
                  congenital fibrosis of the extraocular muscles 6
                    congenital fibrosis of the extraocular muscles 5 1
paths to the root