Preferred Name |
Lysosomal storage disease with skeletal involvement |
|
Synonyms |
Dysostose multiple Dysostosis multiplex |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_12359 |
|
altLabel |
Dysostose multiple Dysostosis multiplex |
|
id_Orpha |
93448 |
|
patType |
group of phenomes |
|
prefixIRI |
hrdo:pat_id_12359 |
|
prefLabel |
Doença de armazenamento lisossomal com envolvimento esquelético Lysosomal storage disease with skeletal involvement Lysosomale Speicherkrankheit mit Skelettbeteiligung Malattia da depositi lisosomiali con coinvolgimento scheletrico Maladie lysosomale avec atteinte osseuse Almacenamiento lisosomal, enfermedad por, con afectación esquelética |
|
subClassOf |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/MONDO_0800088 | EFO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0800088 | MONDO | LOOM | |
http://www.orpha.net/ORDO/Orphanet_93448 | ORDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0019706 | KTAO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0800088 | DOVES | LOOM |