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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Id | http://www.limics.org/hrdo/rdfns#pat_id_18978
http://www.limics.org/hrdo/rdfns#pat_id_18978
|
|---|---|
| Preferred Name | Familial infantile bilateral striatal necrosis |
| Synonyms |
Familial IBSN
Familial infantile striatonigral necrosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Familial IBSN
Familial infantile striatonigral necrosis
|
|---|---|
| prefLabel |
Familial infantile bilateral striatal necrosis
|
| id_MIM |
271930
500003
|
| prevalence |
<1 / 1 000 000
|
| inheritance |
Mitochondrial inheritance
Autosomal recessive
|
| id_OMS |
G23.2
|
| prefixIRI |
hrdo:pat_id_18978
|
| id_Orpha |
225154
|
| subClassOf | |
| patType |
clinical subtype
|
| type | |
| id_Medline |
neant
|
| ageOfOnset |
Neonatal/infancy
|
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