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Term:
Parent Terms Term With Siblings Child Terms
eye disease +     
Accommodative esotropia  
Alagille syndrome +  
alpha-mannosidosis +  
anterior segment dysgenesis +  
autoimmune/inflammatory optic neuropathy +   
Axenfeld anomaly 
blindness - scoliosis - arachnodactyly syndrome 
chondroectodermal dysplasia with night blindness 
choroidal neovascularization 
coloboma +  
conjunctival disorder +  
corneal disease +   
developmental defect of the eye +   
diabetic eye disease +   
dyssegmental dysplasia-glaucoma syndrome 
ectodermal dysplasia-blindness syndrome 
Ehlers-Danlos syndrome, kyphoscoliotic type 1 
essential strabismus 
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eye adnexa disease +   
eye allergy +  
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eye foreign body 
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eye infectious disorder +   
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eyelid disease +   
familial cavitary optic disk anomaly 
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Graves ophthalmopathy  
hereditary hyperferritinemia with congenital cataracts 
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IRVAN syndrome 
isolated ankyloblepharon filiforme adnatum 
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mucolipidosis type IV 
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nail-patella syndrome 
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neuroocular syndrome 
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occular toxicity 
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ocular motility disease +  
ocular motor apraxia, Cogan type 
Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
ocular posterior capsular rupture 
ocular sarcoidosis  
ocular siderosis 
ocular vascular disease +   
oculocerebrorenal syndrome 
oculodentodigital dysplasia +  
oculomucocutaneous syndrome 
Opsoclonus-Myoclonus Syndrome 
optic neuritis +  
Peters plus syndrome 
phakomatosis pigmentovascularis +  
piebaldism 
pigment dispersion syndrome  
ptosis +  
Rare genetic eye disease +   
red color blindness 
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retinopathy +   
Retrobulbar Hemorrhage 
rhizomelic chondrodysplasia punctata +  
Rothmund-Thomson syndrome type 2 
scleral disorder +  
SHORT syndrome 
Smith-Lemli-Opitz syndrome 
Sturge-Weber syndrome 
subacute myelo-opticoneuropathy 
syndromic recessive X-linked ichthyosis 
Takayasu arteritis  
Tietz syndrome 
tyrosinemia type II 
uveal disorder +   
vitreous body disease +   
X-linked cone dysfunction syndrome with myopia 

Synonyms
Exact Synonyms: oculomotor apraxia, congenital, Cogan-type
Related Synonyms: COMA ;   Cogan syndrome type 2 ;   Cogan's syndrome type 2 ;   congenital oculomotor apraxia ;   ocular motor apraxia ;   oculomotor apraxia Cogan type ;   saccade initiation failure congenital
Alternate IDs: MONDO:0009764
Xrefs: DOID:0080849 ;   GARD:16 ;   MEDGEN:154254 ;   MESH:C537423 ;   MIM:257550 ;   NORD:1517 ;   ORDO:1125 ;   SCTID:405809000 ;   UMLS:C0543874
Definition Sources: Orphanet:1125

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