Experimental Factor Ontology - familial infantile bilateral striatal necrosis - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: February 17, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0010080 http://purl.obolibrary.org/obo/MONDO_0010080
Preferred Name	familial infantile bilateral striatal necrosis
Definitions	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.
Synonyms	bilateral striatal Necrosis, infantile familial bilateral striatal necrosis striatal degeneration, familial striatonigral degeneration, infantile infantile bilateral striatal necrosis FBSN SNDI familial infantile striatonigral degeneration familial infantile striatonigral necrosis familial IBSN hereditary infantile bilateral striatal necrosis See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	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.
preferred label	familial infantile bilateral striatal necrosis
label	familial infantile bilateral striatal necrosis
prefLabel	familial infantile bilateral striatal necrosis
exactMatch	http://linkedlifedata.com/resource/umls/id/C4087174 http://www.orpha.net/ORDO/Orphanet_225154 https://omim.org/entry/271930 http://identifiers.org/medgen/1672478 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1873983370
database_cross_reference	Orphanet:225154 MEDGEN:1672478 OMIM:271930 icd11.foundation:1873983370 UMLS:C4087174 GARD:17141 See more See less
notation	MONDO:0010080
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare See more See less
has_related_synonym	bilateral striatal Necrosis, infantile familial bilateral striatal necrosis striatal degeneration, familial striatonigral degeneration, infantile infantile bilateral striatal necrosis FBSN SNDI See more See less
id	MONDO:0010080
see also	https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015518 http://purl.obolibrary.org/obo/MONDO_0003122 http://purl.obolibrary.org/obo/MONDO_0002254
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	familial infantile striatonigral degeneration familial infantile striatonigral necrosis familial IBSN hereditary infantile bilateral striatal necrosis

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