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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_11288
http://www.limics.org/hrdo/rdfns#pat_id_11288
|
|---|---|
| Preferred Name | Adult neuronal ceroid lipofuscinosis |
| Synonyms |
Kufs disease
ANCL
Adult NCL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Kufs disease
ANCL
Adult NCL
|
|---|---|
| prefLabel |
Adult neuronal ceroid lipofuscinosis
|
| id_MIM |
162350
204300
256730
610127
614706
|
| prevalence |
Unknown
|
| inheritance |
Autosomal dominant
Autosomal recessive
|
| id_UMLS |
C0022797
C2931675
|
| id_OMS |
E75.4
|
| prefixIRI |
hrdo:pat_id_11288
|
| id_Orpha |
79262
|
| subClassOf | |
| id_SNOMEDCT |
62009002
|
| patType |
disease
|
| id_MeSH |
C537950
|
| type | |
| id_Medline |
neant
|
| ageOfOnset |
Adulthood
|
| ageOfDeath |
Adult
|
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