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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Spinal Dysraphism (D016135)
..Starting node ..Spina Bifida Cystica (D016137)
Child Nodes:
........Kasznica Carlson Coppedge syndrome (C537011)
Sister Nodes:
..Anencephaly and spina bifida X-linked (C536359)
..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
..Camptodactyly Syndrome, Guadalajara, Type III (C567455)
..Spina Bifida Cystica (D016137) 1
..Spina Bifida Occulta (D016136) 1
..Spina Bifida, Folate-Sensitive (C566648)
..Spina Bifida, X-Linked (C564459)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10452
Name:	Spina Bifida Cystica
Definition:	A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)
Alternative IDs:
ParentIDs:	MESH:D016135
TreeNumbers:	C10.500.680.800.730 \|C16.131.666.680.800.730
Synonyms:	Open Spina Bifida \|Spina Bifida Aperta \|Spina Bifida Manifesta \|Spina Bifida, Open
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: D016137 MeSH: D016137 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants