Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Congenital Fibrosis of Extraocular Muscles, 2 (DOID:9005788)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3MC syndrome 2  
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome 
Alacrima +   
Albinism +   
aniridia +   
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
Baraitser-Winter syndrome +   
basal laminar drusen  
bestrophinopathy  
Blepharoptosis Myopia Ectopia Lentis 
Bothnia retinal dystrophy  
bradyopsia  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism 
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroideremia +   
cone-rod dystrophy +   
Congenital Alacrima +   
Congenital Fibrosis of Extraocular Muscles, 1  
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence 
Congenital Myasthenic Syndrome, with Facial Dysmorphism 
Congenital Mydriasis +   
congenital ptosis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Deafness Conductive Ptosis Skeletal Anomalies 
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
Duane retraction syndrome +   
enhanced S-cone syndrome  
exudative vitreoretinopathy +   
familial benign fleck retina  
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
Glaucoma 1, Open Angle, P  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
high hyperopia  
Histiocytic Dermatoarthritis 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Iris Pigment Epithelium Anomalies 
jaw-winking syndrome 
Joubert syndrome 8  
Leber congenital amaurosis +   
Macular Dystrophy, X-Linked +   
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 
McPherson Robertson Cammarano Syndrome 
megalocornea +   
Mehta Lewis Patton Syndrome 
Microcephaly and Chorioretinopathy +   
Ohdo syndrome +   
Oliver-McFarlane syndrome  
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Ophthalmoplegia Totalis with Ptosis and Miosis 
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
primary congenital glaucoma +   
pseudopapilledema 
Ptosis, Strabismus, and Ectopic Pupils 
Radial Drusen, Autosomal Dominant 
renal hypomagnesemia 5 with ocular involvement  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe  
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Treft Sanborn Carey Syndrome 
Tucker Syndrome 
Tukel Syndrome 
Van Bogaert-Hozay Syndrome 
Vascular Hyalinosis 
Vertebral Fusion Posterior Lumbosacral Blepharoptosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
Widow's Peak Syndrome 

Synonyms
Exact Synonyms: CFEOM2 ;   FEOM2 LOCUS
Broad Synonyms: congenital fibrosis of extraocular muscles, autosomal recessive
Primary IDs: MESH:C566587
Alternate IDs: OMIM:602078 ;   RDO:0014901

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.