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Ontology Browser
Term:
complex cortical dysplasia with other brain malformations 6 (DOID:0090136)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
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  
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
autosomal dominant intellectual developmental disorder 13  
BOCKENHEIMER 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 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
chromosomal disease +   
CK syndrome  
complex cortical dysplasia with other brain malformations 1  
Complex Cortical Dysplasia with Other Brain Malformations 10  
Complex Cortical Dysplasia with Other Brain Malformations 11  
Complex Cortical Dysplasia with Other Brain Malformations 12  
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  
A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. (DO)
complex cortical dysplasia with other brain malformations 7  
Complex Cortical Dysplasia with Other Brain Malformations 9  
Congenital Hepatic Fibrosis  
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 Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
inherited metabolic disorder +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
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 +   
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
polygenic disease +   
Polymicrogyria with Optic Nerve Hypoplasia  
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
Sacral Agenesis with Vertebral Anomalies  
Schizencephaly  
yellow nail syndrome +  

Synonyms
Exact Synonyms: CDCBM6
Related Synonyms: CDCBM56
Primary IDs: OMIM:615771
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/30936767 "DO" "DO", https://www.omim.org/entry/615771 "DO" "DO"

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