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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
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Accession:DOID:0080143 term browser browse the term
Definition:An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)
Synonyms:exact_synonym: CFEOM;   congenital external ophthalmoplegia;   congenital fibrosis of extraocular muscles;   congenital fibrosis syndrome;   congenital ophthalmoplegia;   general fibrosis syndrome
 primary_id: MESH:C580012
 xref: EFO:1001985;   GARD:12590;   OMIM:PS135700;   ORDO:45358


show annotations for term's descendants           Sort by:
congenital fibrosis of the extraocular muscles term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
G Fgf21 fibroblast growth factor 21 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 7:45,263,314...45,264,914
Ensembl chr 7:45,263,310...45,264,914 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Kif21a kinesin family member 21A IAGP
ISO		 OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, CONGENITAL		 MouseDO
ClinVar		 PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 More... NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151 		JBrowse link
G LOC109245083 Fgf21 promoter region ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 7:45,264,910...45,266,290 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr10:76,304,736...76,351,693
Ensembl chr10:76,304,761...76,351,691 		JBrowse link
G Myh10 myosin, heavy polypeptide 10, non-muscle ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458 		JBrowse link
G Nes nestin ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584 		JBrowse link
G Tuba1b tubulin, alpha 1B ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr15:98,829,310...98,832,271
Ensembl chr15:98,829,306...98,832,446 		JBrowse link
G Tubb3 tubulin, beta 3 class III IAGP
ISO		 OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles		 MouseDO
ClinVar		 PMID:25741868 NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198 		JBrowse link
congenital fibrosis of the extraocular muscles 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b | ClinVar Annotator: match by term: KIF21A-related condition		 CTD
ClinVar
OMIM
RGD		 PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 More... RGD:1600402 NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151 		JBrowse link
congenital fibrosis of the extraocular muscles 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11600883 PMID:25741868 NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933 		JBrowse link
congenital fibrosis of the extraocular muscles 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related condition | ClinVar Annotator: match by term: TUBB3-related tubulinopathy		 OMIM
CTD
ClinVar		 PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 More... NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5		 OMIM
CTD
ClinVar		 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
OCULOMOTOR-ABDUCENS SYNKINESIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Oculomotor-abducens synkinesis OMIM
ClinVar		 PMID:31211835 NCBI chr 1:90,131,702...90,143,446
Ensembl chr 1:90,131,702...90,144,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    physical disorder 5000
      congenital fibrosis of the extraocular muscles 16
        Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
        OCULOMOTOR-ABDUCENS SYNKINESIS 1
        Tukel syndrome 0
        congenital fibrosis of the extraocular muscles 1 1
        congenital fibrosis of the extraocular muscles 2 1
        congenital fibrosis of the extraocular muscles 3A 1
        congenital fibrosis of the extraocular muscles 3C 0
        congenital fibrosis of the extraocular muscles 5 1
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            eye disease 3459
              ocular motility disease 260
                ophthalmoplegia 94
                  congenital fibrosis of the extraocular muscles 16
                    Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
                    OCULOMOTOR-ABDUCENS SYNKINESIS 1
                    Tukel syndrome 0
                    congenital fibrosis of the extraocular muscles 1 1
                    congenital fibrosis of the extraocular muscles 2 1
                    congenital fibrosis of the extraocular muscles 3A 1
                    congenital fibrosis of the extraocular muscles 3C 0
                    congenital fibrosis of the extraocular muscles 5 1
paths to the root