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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.


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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