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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Qualitative or quantitative defects of dystrophin | |
| Synonyms |
Dystrophinopathy |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_18588 |
|
| altLabel |
Dystrophinopathy
|
|
| id_Orpha |
207085
|
|
| patType |
group of phenomes
|
|
| prefixIRI |
hrdo:pat_id_18588
|
|
| prefLabel |
Qualitative or quantitative defects of dystrophin
|
|
| subClassOf |
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0016147 | MONDO | LOOM |
| http://www.orpha.net/ORDO/Orphanet_207085 | ORDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0016147 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0016147 | DOVES | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0016147 | EFO | LOOM |