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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


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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 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 3:129,973,992...130,393,533
Ensembl chr 3:129,925,150...130,393,526 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    physical disorder 5001
      congenital fibrosis of the extraocular muscles 16
        congenital fibrosis of the extraocular muscles 5 1
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              ocular motility disease 260
                ophthalmoplegia 94
                  congenital fibrosis of the extraocular muscles 16
                    congenital fibrosis of the extraocular muscles 5 1
paths to the root