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familial infantile bilateral striatal necrosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0010080

Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. [ Orphanet:225154 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:225154 (OMIM:271930)
  • ICD10:G23.2 (Orphanet:225154)
  • GARD:0010665 (MONDO:equivalentTo)
  • UMLS:CN201303 (MONDO:equivalentTo)
  • OMIM:271930 (Orphanet:225154)
Subsets

gard_rare, ordo_clinical_subtype

abbreviation
FBSN [ GARD:0010665 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

definition

Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.

exactMatch

http://www.orpha.net/ORDO/Orphanet_225154

http://linkedlifedata.com/resource/umls/id/CN201303

http://identifiers.org/omim/271930

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql

has exact synonym

hereditary infantile bilateral striatal necrosis

familial infantile striatonigral degeneration

familial IBSN

familial infantile striatonigral necrosis

has related synonym

striatal degeneration, familial

SNDI

FBSN

bilateral striatal Necrosis, infantile

striatonigral degeneration, infantile

infantile bilateral striatal necrosis

familial bilateral striatal necrosis

id

MONDO:0010080

seeAlso

https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis