loading...| Preferred Name | familial infantile bilateral striatal necrosis | |
| Synonyms |
bilateral striatal Necrosis, infantile SNDI infantile bilateral striatal necrosis FBSN striatal degeneration, familial familial bilateral striatal necrosis striatonigral degeneration, infantile familial infantile striatonigral degeneration familial IBSN familial infantile striatonigral necrosis hereditary infantile bilateral striatal necrosis |
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| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010080 |
|
| database_cross_reference |
GARD:17141 Orphanet:225154 OMIM:271930 UMLS:C4087174 icd11.foundation:1873983370 MEDGEN:1672478 |
|
| 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. |
|
| has_exact_synonym |
familial infantile striatonigral degeneration familial IBSN familial infantile striatonigral necrosis hereditary infantile bilateral striatal necrosis |
|
| has_related_synonym |
bilateral striatal Necrosis, infantile SNDI infantile bilateral striatal necrosis FBSN striatal degeneration, familial familial bilateral striatal necrosis striatonigral degeneration, infantile |
|
| id |
MONDO:0010080 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
familial infantile bilateral striatal necrosis |
|
| notation |
MONDO:0010080 |
|
| prefLabel |
familial infantile bilateral striatal necrosis |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_225154 http://linkedlifedata.com/resource/umls/id/C4087174 http://identifiers.org/medgen/1672478 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1873983370 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0015518 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015518 |