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loading...| Preferred Name |
De Sanctis-Cacchione syndrome |
|
| Synonyms |
Xeroderma pigmentosum with neurologic manifestation |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_1721 |
|
| ageOfOnset |
Childhood |
|
| altLabel |
Xeroderma pigmentosum with neurologic manifestation |
|
| id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sanctis+cacchione%5Btw%5D |
|
| id_MeSH |
C535992 |
|
| id_MIM |
278800 |
|
| id_Orpha |
1569 |
|
| id_SNOMEDCT |
414673004 |
|
| id_UMLS |
C0265201 |
|
| inheritance |
Autosomal recessive |
|
| patType |
disease |
|
| prefixIRI |
hrdo:pat_id_1721 |
|
| prefLabel |
De Sanctis-Cacchione syndrome |
|
| prevalence |
Unknown |
|
| subClassOf |
Create mapping