Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Agenesis of Corpus Callosum (D061085)
Parent Node:
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Growth Disorders (D006130)
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Intellectual Disability (D008607)
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Malformations of Cortical Development (D054220)
..Starting node
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Curatolo Cilio Pessagno syndrome (C536701)

       Child Nodes:



 Sister Nodes: 
..expandBAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..expandCK SYNDROME (OMIM:300831)
..expandCortical Dysplasia of Taylor without Balloon Cells (C564583)
..expandCortical Dysplasia-Focal Epilepsy Syndrome (C566482)
..expandCuratolo Cilio Pessagno syndrome (C536701)
..expandFamilial schizencephaly (C538514)
..expandGrowth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..expandMalformations of Cortical Development, Group I (D065703) Child172
..expandMalformations of Cortical Development, Group II (D054081) Child35
..expandMalformations of Cortical Development, Group III (D065704) Child4
..expandMegalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..expandMuller Barth Menger syndrome (C537370)
..expandNon-lissencephalic cortical dysplasia (C536243)
..expandPerisylvian syndrome (C536658)
..expandPitt-Hopkins-Like Syndrome 1 (C567657)
..expandPolymicrogyria With Optic Nerve Hypoplasia (C567715)
..expandPolymicrogyria, Asymmetric (C567658)
..expandPolymicrogyria, Bilateral Frontoparietal (C564652)
..expandPolymicrogyria, Bilateral Occipital (C567201)
..expandPOLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2889
Name:Curatolo Cilio Pessagno syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D008607|MESH:D054220|MESH:D061085
TreeNumbers:C10.500.034/C536701 |C10.500.507/C536701 |C10.597.606.643/C536701 |C16.131.666.034/C536701 |C16.131.666.507/C536701 |C23.300.008/C536701 |C23.550.393/C536701 |C23.888.592.604.646/C536701 |F03.550.600/C536701
Synonyms:White matter hypoplasia, corpus callosum agenesia, and mental retardation
Slim Mappings:Congenital abnormality|Mental disorder|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms
Reference: MedGen: C536701
MeSH: C536701
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants