Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:10466
Name:Spinal Dysraphism
Definition:Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)
Alternative IDs:
ParentIDs:MESH:D009436
TreeNumbers:C10.500.680.800 |C16.131.666.680.800
Synonyms:Bifida, Spina |Cleft Spine |Dysraphia, Spinal |Dysraphias, Spinal |Dysraphicus, Status |Dysraphism, Spinal |Dysraphisms, Spinal |Open Spine |Rachischises |Rachischisis |Schistorrhachis |Spina Bifida |Spina Bifidas |Spinal Dysraphia |Spinal Dysraphias |Spinal Dysraphism
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: D016135
MeSH: D016135
OMIM:

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Disease Causing ClinVar Variants