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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
leukodystrophy +     
vascular dementia +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
adrenoleukodystrophy +   
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alexander disease  
Alpha-2-Deficient Collagen Disease 
anterior cerebral artery infarction 
apparent mineralocorticoid excess syndrome  
Aquaporin 1 Deficiency 
aspartylglucosaminuria  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
CAKUT2  
Canavan disease  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 42  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cenani-Lenz syndactyly syndrome  
cerebral amyloid angiopathy +   
cerebral artery occlusion 
CHARGE syndrome  
chromosomal disease +   
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis-3  
frontotemporal dementia and/or amyotrophic lateral sclerosis-4  
Genetic Skin Diseases +   
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypomyelinating leukodystrophy +   
inherited metabolic disorder +   
intracranial aneurysm +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies  
Lennox-Gastaut syndrome  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
leukoencephalopathy with vanishing white matter  
Marfan syndrome +   
megalencephalic leukoencephalopathy with subcortical cysts +   
middle cerebral artery infarction  
monogenic disease +   
Moyamoya disease +   
Multi-Infarct Dementia  
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
polycystic kidney disease +   
polygenic disease +   
posterior cerebral artery infarction 
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Progressive Leukodystrophy, Early Childhood-Onset  
pulmonary alveolar microlithiasis  
RETINAL DYSTROPHY WITH LEUKODYSTROPHY  
Sacral Agenesis with Vertebral Anomalies  
yellow nail syndrome +  

Synonyms
Exact Synonyms: CADASILM ;   CASIL ;   Dementia, Hereditary Multi Infarct Type ;   cerebral arteriopathy with subcortical infarcts and leukoencephalopathy ;   cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ;   hereditary multi-infarct dementia
Primary IDs: MESH:D046589
Alternate IDs: RDO:0000072
Xrefs: GARD:1049 ;   ICD10CM:I67.850 ;   NCI:C84606 ;   OMIM:PS125310 ;   ORDO:136
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/10476042 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8878478 "DO", MESH:D046589

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