Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

infantile bilateral striatal necrosis
Synonyms

striatal degeneration familial

striatonigral degeneration infantile

SNDI

infantile striatonigral necrosis

infantile striatonigral degeneration

infantile bilateral striatal necrosis

IBSN

Definitions

Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.

ID

http://purl.obolibrary.org/obo/MONDO_0015518

database_cross_reference

SCTID:718174008

icd11.foundation:1947032348

NANDO:2200888

Orphanet:1576

UMLS:C0795996

MEDGEN:167090

ICD10CM:G23.2

NANDO:2100242

GARD:5040

definition

Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0795996

http://identifiers.org/snomedct/718174008

http://identifiers.org/medgen/167090

http://purl.obolibrary.org/obo/Orphanet_1576

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1947032348

has_exact_synonym

infantile striatonigral necrosis

infantile striatonigral degeneration

infantile bilateral striatal necrosis

IBSN

has_related_synonym

striatal degeneration familial

striatonigral degeneration infantile

SNDI

id

MONDO:0015518

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

infantile bilateral striatal necrosis

notation

MONDO:0015518

preferred label

infantile bilateral striatal necrosis

prefLabel

infantile bilateral striatal necrosis

subClassOf

http://www.ebi.ac.uk/efo/EFO_0005772

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0017641

http://purl.obolibrary.org/obo/MONDO_0017662

http://purl.obolibrary.org/obo/MONDO_0015983

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