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
KIF21A
kinesin family member 21A
ISO
ClinVar Annotator: match by term: Congenital fibrosis of the extraocular muscles
ClinVar
NCBI chr27:14,205,980...14,328,281
Ensembl chr27:14,181,837...14,327,492
G
LOC610636
tubulin alpha-1B chain
ISO
ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles
ClinVar
PMID:25741868
NCBI chr37:25,811,491...25,818,838
G
KIF21A
kinesin family member 21A
ISO
OMIM
NCBI chr27:14,205,980...14,328,281
Ensembl chr27:14,181,837...14,327,492
G
PHOX2A
paired like homeobox 2A
ISO
OMIM
NCBI chr21:25,895,628...25,900,338
Ensembl chr21:25,892,321...25,900,351
G
TUBB3
tubulin beta 3 class III
ISO
OMIM
NCBI chr 5:63,681,765...63,690,898
Ensembl chr 5:63,681,752...63,729,684
G
KIF21A
kinesin family member 21A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD ClinVar
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868
NCBI chr27:14,205,980...14,328,281
Ensembl chr27:14,181,837...14,327,492
G
COL25A1
collagen type XXV alpha 1 chain
ISO
OMIM
NCBI chr32:29,119,875...29,567,994
Ensembl chr32:29,124,996...29,567,481
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
13584
physical disorder
2824
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
disease
13584
disease of anatomical entity
13246
nervous system disease
10954
peripheral nervous system disease
2323
neuropathy
2155
cranial nerve disease
402
ocular motility disease
130
ophthalmoplegia
64
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