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Cell Culture Ontology
| 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.
|
|
| 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 |
|
| label |
infantile bilateral striatal necrosis
|
|
| notation |
MONDO:0015518
|
|
| preferred label |
infantile bilateral striatal necrosis
|
|
| prefLabel |
infantile bilateral striatal necrosis
|
|
| skos_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 |
|
| subClassOf | ||
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017641 |
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