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Term:
complex cortical dysplasia with other brain malformations 1 (DOID:0090137)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (0) Bonobo: (0) Dog: (2) Squirrel: (1) Pig: (0)
Parent Terms Term With Siblings Child Terms
Abnormal Cortical Gyration  
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
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 +   
CAKUT2  
cataract 23  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
chromosomal disease +   
CK syndrome  
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. (DO)
Complex Cortical Dysplasia with Other Brain Malformations 10  
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  
Complex Cortical Dysplasia with Other Brain Malformations 9  
congenital diarrhea +   
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
Curatolo Cilio Pessagno Syndrome 
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 +   
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
hereditary angioedema +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hypogonadotropic hypogonadism 5 with or without anosmia +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies  
Lennox-Gastaut syndrome  
Malformations of Cortical Development, Group I +   
Malformations of Cortical Development, Group II +   
Malformations of Cortical Development, Group III +   
Marfan syndrome +   
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
monogenic disease +   
Muller Barth Menger Syndrome 
Nervous System Heredodegenerative Disorders +   
Non-Lissencephalic Cortical Dysplasia 
Nonimmune Chronic Idiopathic Neutropenia, Adult  
Occipital Cortical Malformations  
osteochondrodysplasia +   
Perisylvian Syndrome +   
polygenic disease +   
Polymicrogyria with Optic Nerve Hypoplasia  
Polymicrogyria, Bilateral Frontoparietal  
Polymicrogyria, Bilateral Occipital  
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
pulmonary alveolar microlithiasis  
Sacral Agenesis with Vertebral Anomalies  
Schizencephaly  
yellow nail syndrome +  

Synonyms
Exact Synonyms: CDCBM1 ;   cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Primary IDs: OMIM:614039
Xrefs: ORDO:300570
Definition Sources: https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/30016746 "DO", https://www.omim.org/entry/614039 "DO"

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