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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: 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 ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 2:235,515,364...235,705,448
Ensembl chr 2:235,596,123...235,715,057 		JBrowse link
G Kif21a kinesin family member 21A ISO
ISS		 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 chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470 		JBrowse link
G Phox2a paired-like homeobox 2a ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISS OMIM:135700 | OMIM:600638 | OMIM:602078 | OMIM:609384 | OMIM:609428 | OMIM:616219 MouseDO NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813 		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 ISO 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 chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470 		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 ISO ClinVar Annotator: match by OMIM:602078 OMIM
ClinVar		 PMID:11600883 NCBI chr 1:166,893,734...166,898,252
Ensembl chr 1:166,893,734...166,898,252 		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 ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
ClinVar Annotator: match by OMIM:600638		 OMIM
ClinVar		 PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20829227 PMID:25741868 PMID:30311386 NCBI chr19:56,220,759...56,229,813
Ensembl chr19:56,220,755...56,229,813 		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 ISO ClinVar Annotator: match by OMIM:135700
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null		 ClinVar
CTD		 PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470 		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 ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM		 PMID:25500261 NCBI chr 2:235,515,364...235,705,448
Ensembl chr 2:235,596,123...235,715,057 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital fibrosis of the extraocular muscles 4
        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 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            cranial nerve disease 469
              ocular motility disease 171
                ophthalmoplegia 65
                  congenital fibrosis of the extraocular muscles 4
                    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