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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Agenesis of Corpus Callosum +   
Aicardi-Goutieres syndrome +   
A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis  
Athabaskan brainstem dysgenesis syndrome  
autoimmune disease of central nervous system +   
autoimmune disease of eyes, ear, nose and throat +   
autoimmune disease of peripheral nervous system +   
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
central nervous system vasculitis +   
cerebellar hypoplasia +   
chromosome 17p13.3 duplication syndrome  
combined oxidative phosphorylation deficiency 55  
complex cortical dysplasia with other brain malformations +   
congenital nystagmus 1  
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Dandy-Walker syndrome +   
developmental delay, dysmorphic facies, and brain anomalies  
distal arthrogryposis type 1C  
dopamine transporter deficiency syndrome +   
Drachtman Weinblatt Sitarz Syndrome 
early onset progressive encephalopathy with brain atrophy and thin corpus callosum  
Experimental Nervous System Autoimmune Disease +   
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial mediterranean fever +   
focal segmental glomerulosclerosis 3  
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
Gillespie syndrome  
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary sensory neuropathy +   
hereditary spastic paraplegia 30  
hypophosphatasia +   
Idiopathic Basal Ganglia Calcification 1  
Idiopathic Basal Ganglia Calcification 4  
Idiopathic Basal Ganglia Calcification 5  
Idiopathic Basal Ganglia Calcification 6  
Idiopathic Basal Ganglia Calcification 7  
Idiopathic Basal Ganglia Calcification 8  
Idiopathic Basal Ganglia Calcification, Childhood Onset  
immunodeficiency 38  
McCune Albright syndrome  
Median-Ulnar Nerve Communications 
microcephaly, growth deficiency, seizures, and brain malformations  
neural tube defect +   
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY  
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
neurodevelopmental disorder with hypotonia and speech delay  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities  
Neurodevelopmental Disorder with Seizures and Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES  
NFIA-related disorder  
polyradiculoneuropathy +   
retinitis pigmentosa 86  
Robinow syndrome +   
Schisis Association 
septooptic dysplasia +   
Sotos syndrome +   
spondylocostal dysostosis 5  
Stiff-Person syndrome  
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 3  
syndromic microphthalmia 6  
syndromic microphthalmia 8 
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Vogt-Koyanagi-Harada disease  
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: AGS ;   Cree encephalitis ;   encephalopathy with basal ganglia calcification ;   familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis ;   pseudotoxoplasmosis syndrome
Primary IDs: MESH:C535607
Xrefs: GARD:575 ;   ICD10CM:G31.8 ;   OMIM:PS225750 ;   ORDO:51
Definition Sources: http://omim.org/entry/225750 "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1475/ "DO" "DO", https://agsaa.org/about-ags "DO" "DO"

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