Disease Browser
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Parent Node: Agenesis of Corpus Callosum (D061085) | Parent Node: Growth Disorders (D006130) | Parent Node: Intellectual Disability (D008607) | Parent Node: Malformations of Cortical Development (D054220) | ..Starting node ..Curatolo Cilio Pessagno syndrome (C536701)
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Sister Nodes: | ..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
| ..CK SYNDROME (OMIM:300831)
| ..Cortical Dysplasia of Taylor without Balloon Cells (C564583)
| ..Cortical Dysplasia-Focal Epilepsy Syndrome (C566482)
| ..Curatolo Cilio Pessagno syndrome (C536701)
| ..Familial schizencephaly (C538514)
| ..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
| ..Malformations of Cortical Development, Group I (D065703) 172
| ..Malformations of Cortical Development, Group II (D054081) 35
| ..Malformations of Cortical Development, Group III (D065704) 4
| ..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
| ..Muller Barth Menger syndrome (C537370)
| ..Non-lissencephalic cortical dysplasia (C536243)
| ..Perisylvian syndrome (C536658)
| ..Pitt-Hopkins-Like Syndrome 1 (C567657)
| ..Polymicrogyria With Optic Nerve Hypoplasia (C567715)
| ..Polymicrogyria, Asymmetric (C567658)
| ..Polymicrogyria, Bilateral Frontoparietal (C564652)
| ..Polymicrogyria, Bilateral Occipital (C567201)
| ..POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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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 | |
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