loading...| Preferred Name | multiple synostoses syndrome 2 | |
| Synonyms |
SYNS2 multiple synostoses syndrome 2 multiple synostoses syndrome caused by mutation in GDF5 multiple synostoses syndrome type 2 GDF5 multiple synostoses syndrome |
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| Definitions |
Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0012394 |
|
| database_cross_reference |
UMLS:C1832708 MESH:C537380 MEDGEN:331348 DOID:0081318 OMIM:610017 GARD:9916 |
|
| definition |
Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene. |
|
| has_exact_synonym |
multiple synostoses syndrome 2 multiple synostoses syndrome caused by mutation in GDF5 multiple synostoses syndrome type 2 GDF5 multiple synostoses syndrome |
|
| has_related_synonym |
SYNS2 |
|
| IAO_0000233 | ||
| id |
MONDO:0012394 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
multiple synostoses syndrome 2 |
|
| notation |
MONDO:0012394 |
|
| preferred label |
multiple synostoses syndrome 2 |
|
| prefLabel |
multiple synostoses syndrome 2 |
|
| see also |
https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2 |
|
| skos_exactMatch |
http://identifiers.org/medgen/331348 http://purl.obolibrary.org/obo/DOID_0081318 |
|
| subClassOf |