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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Agenesis of Corpus Callosum +   
Aicardi-Goutieres syndrome +   
Athabaskan brainstem dysgenesis syndrome  
autosomal dominant disease +   
autosomal recessive disease +   
brachydactyly-syndactyly syndrome  
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Central Nervous System Cysts +   
Central Nervous System Vascular Malformations +   
Cerebellar Hypoplasia +   
chromosome 17p13.3 duplication syndrome  
chromosome 1p32-p31 deletion syndrome  
complex cortical dysplasia with other brain malformations +   
Dandy-Walker syndrome +   
Drachtman Weinblatt Sitarz Syndrome 
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary sensory neuropathy +   
Matthew-Wood syndrome  
McCune Albright syndrome  
Median-Ulnar Nerve Communications 
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
Microphthalmia, Syndromic 3  
Microphthalmia, Syndromic 6  
neural tube defect +   
Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
neurodevelopmental disorder with midbrain and hindbrain malformations  
Robinow syndrome +   
Schisis Association 
septooptic dysplasia +   
A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: De Morsier Syndrome ;   SOD ;   Septo Optic Dysplasia with Growth Hormone Deficiency ;   Septooptic Dysplasias ;   septo-optic dysplasia
Narrow Synonyms: SEPTOOPTIC DYSPLASIA, MILD
Primary IDs: MESH:D025962
Alternate IDs: RDO:0000216
Xrefs: GARD:7627 ;   NCI:C85063 ;   ORDO:3157
Definition Sources: MESH:D025962, https://www.ncbi.nlm.nih.gov/pubmed/8696006, https://www.ncbi.nlm.nih.gov/pubmed/9620767

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