Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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: GARD:12590;   OMIM:PS135700
For additional species annotation, visit the Alliance of Genome Resources.

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 COL25A1 collagen type XXV alpha 1 chain IEA OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 4:108,808,725...109,302,737
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G KIF21A kinesin family member 21A IAGP
ISS
IEA		 ClinVar Annotator: match by term: Congenital fibrosis of the extraocular muscles
OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219		 ClinVar
MouseDO		 NCBI chr12:39,293,228...39,443,147
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G PHOX2A paired like homeobox 2A IEA OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles ClinVar PMID:25741868 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,795...49,189,080
Ensembl chr12:49,184,795...49,189,080 		JBrowse link
G TUBB3 tubulin beta 3 class III IEA
ISS		 OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Congenital Fibrosis of Extraocular Muscles, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF21A kinesin family member 21A IAGP DNA:missense mutation:CDS:2860C>T (p.R954W) (human)
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 1		 ClinVar
OMIM		 PMID:14595441 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 PMID:28492532, PMID:14595441 RGD:1600402 NCBI chr12:39,293,228...39,443,147
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHOX2A paired like homeobox 2A IAGP ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 2 ClinVar
OMIM		 PMID:11600883 NCBI chr11:72,239,077...72,244,176
Ensembl chr11:72,239,077...72,245,664 		JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB3 tubulin beta 3 class III IAGP ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
ClinVar Annotator: match by term: FEOM3 LOCUS		 ClinVar
OMIM		 PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20829227 PMID:24612975 PMID:25741868 PMID:26775887 PMID:27046833 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF21A kinesin family member 21A IAGP
EXP		 ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 NCBI chr12:39,293,228...39,443,147
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
Congenital Fibrosis of 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 IAGP ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM		 PMID:25500261 NCBI chr 4:108,808,725...109,302,737
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    physical disorder 3308
      congenital fibrosis of the extraocular muscles 5
        Congenital Fibrosis of Extraocular Muscles, 1 1
        Congenital Fibrosis of Extraocular Muscles, 2 1
        Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
        Congenital Fibrosis of Extraocular Muscles, 3B 1
        Congenital Fibrosis of Extraocular Muscles, 3C 0
        Congenital Fibrosis of Extraocular Muscles, 5 1
        Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
        Tukel Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      nervous system disease 14498
        peripheral nervous system disease 2621
          neuropathy 2430
            cranial nerve disease 451
              ocular motility disease 152
                ophthalmoplegia 80
                  congenital fibrosis of the extraocular muscles 5
                    Congenital Fibrosis of Extraocular Muscles, 1 1
                    Congenital Fibrosis of Extraocular Muscles, 2 1
                    Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement 1
                    Congenital Fibrosis of Extraocular Muscles, 3B 1
                    Congenital Fibrosis of Extraocular Muscles, 3C 0
                    Congenital Fibrosis of Extraocular Muscles, 5 1
                    Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 0
                    Tukel Syndrome 0
paths to the root