Jump to:
loading...| Preferred Name |
Lysosomal storage disease with skeletal involvement |
|
| Synonyms |
Dysostosis multiplex |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_93448 |
|
| alternative_term |
Dysostosis multiplex |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448 |
|
| label |
Lysosomal storage disease with skeletal involvement |
|
| notation |
ORPHA:93448 Category |
|
| prefixIRI |
ORDO:Orphanet_93448 |
|
| prefLabel |
Lysosomal storage disease with skeletal involvement |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183524 |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_93448 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0800088 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0800088 | MONDO | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_12359 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019706 | KTAO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0800088 | DOVES | LOOM |