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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_1721
http://www.limics.org/hrdo/rdfns#pat_id_1721
|
|---|---|
| Preferred Name | De Sanctis-Cacchione syndrome |
| Synonyms |
Xeroderma pigmentosum with neurologic manifestation
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Xeroderma pigmentosum with neurologic manifestation
|
|---|---|
| prefLabel |
De Sanctis-Cacchione syndrome
|
| id_MIM |
278800
|
| prevalence |
Unknown
|
| inheritance |
Autosomal recessive
|
| id_UMLS |
C0265201
|
| prefixIRI |
hrdo:pat_id_1721
|
| id_Orpha |
1569
|
| subClassOf | |
| id_SNOMEDCT |
414673004
|
| patType |
disease
|
| id_MeSH |
C535992
|
| type | |
| id_Medline | |
| ageOfOnset |
Childhood
|
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