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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: Neural Tube Defects (D009436)
..Starting node ..Meningomyelocele (D008591)
Child Nodes:
........Lipomyelomeningocele (C537030)
........Sacral meningocele conotruncal heart defects (C537223)
........Schwartz Cohen-Addad Lambert syndrome (C535835)
Sister Nodes:
..Acalvaria (C535570)
..Anencephaly (D000757) 4
..Arnold-Chiari Malformation (D001139) 1
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Encephalocele (D004677) 24
..Meningocele (D008588) 5
..Meningomyelocele (D008591) 3
..Midline Defects, X-Linked (C564054)
..Neural tube defects X-linked (C536410)
..Pentalogy of Cantrell (D058502)
..Spinal Dysraphism (D016135) 10
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6959
Name:	Meningomyelocele
Definition:	Congenital, or rarely acquired, herniation of meningeal and spinal cord tissue through a bony defect in the vertebral column. The majority of these defects occur in the lumbosacral region. Clinical features include PARAPLEGIA, loss of sensation in the lower body, and incontinence. This condition may be associated with the ARNOLD-CHIARI MALFORMATION and HYDROCEPHALUS. (From Joynt, Clinical Neurology, 1992, Ch55, pp35-6)
Alternative IDs:
ParentIDs:	MESH:D009436
TreeNumbers:	C10.500.680.610 \|C16.131.666.680.610
Synonyms:	Acquired Meningomyelocele \|Acquired Meningomyeloceles \|Acquired Myelomeningocele \|Acquired Myelomeningoceles \|Meningomyelocele, Acquired \|Meningomyeloceles \|Meningomyeloceles, Acquired \|Myelocele \|Myeloceles \|Myelomeningocele \|Myelomeningocele, Acquired \|Myelomenin
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: D008591 MeSH: D008591 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants