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
Accession: DOID:0080143
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 .
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
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
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