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Core Information
Disease Name
Nephronophthisis 12
Standard Disease Name
nephronophthisis 12
MeSH Tree
No data
ICD-10
No data
Identifiers
DO ID
No data
MeSH ID
D020786
OMIM ID
No data
UMLS ID
C0752160
HPO ID
No data
Description and Extensions
Description
NCI2016_02D:A cavernous hemangioma arising from the central nervous system.|MSH2017_2016_08_12:A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit.
Related
Related Entities
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