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Ontology Browser

Term:
syndromic microphthalmia 10 (DOID:0111812)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
Alexander Disease  
Canavan disease  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
Cockayne syndrome +   
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Dystonia Musculorum Deformans +   
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
Kennedy's disease  
Lafora disease  
Leukoencephalomyelopathy  
linear skin defects with multiple congenital anomalies 1  
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Mental Retardation, X-Linked +   
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Psychomotor Deterioration  
spinal muscular atrophy with lower extremity predominance +   
Spongiform Encephalopathy with Neuropsychiatric Features  
syndromic microphthalmia 1  
syndromic microphthalmia 10 
A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. (DO)
syndromic microphthalmia 11  
syndromic microphthalmia 12  
syndromic microphthalmia 13  
syndromic microphthalmia 14  
syndromic microphthalmia 2  
syndromic microphthalmia 3  
syndromic microphthalmia 4  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
syndromic microphthalmia 9  
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Wilson disease +   

Synonyms
Exact Synonyms: MCOPS10 ;   MOBA ;   microphthalmia and brain atrophy ;   microphthalmia-brain atrophy syndrome
Primary IDs: MESH:C566985
Alternate IDs: OMIM:611222
Xrefs: GARD:9292 ;   ORDO:77299
Definition Sources: url:https://www.ncbi.nlm.nih.gov/pubmed/16566018 "DO"

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