loading...| Preferred Name |
primary bone dysplasia with multiple joint dislocations |
|
| Synonyms |
primary skeletal dysplasia with multiple joint dislocations primary osteodysplasia with multiple joint dislocations |
|
| Definitions |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. Rare genetic disorders that cause abnormal development of a baby's bones, joints, and cartilage and involve multiple joint dislocations. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0700138 |
|
| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
| database_cross_reference |
Orphanet:93441 |
|
| definition |
Rare genetic disorders that cause abnormal development of a baby's bones, joints, and cartilage and involve multiple joint dislocations. |
|
| has_exact_synonym |
primary skeletal dysplasia with multiple joint dislocations primary osteodysplasia with multiple joint dislocations |
|
| label |
primary bone dysplasia with multiple joint dislocations |
|
| prefixIRI |
efo1:EFO_0700138 |
|
| prefLabel |
primary bone dysplasia with multiple joint dislocations |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_93441 | ORDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0800086 | DOVES | LOOM |