loading...| Preferred Name | MULTIPLE SYNOSTOSES SYNDROME 2 | |
| Synonyms |
SYNS2 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/610017 |
|
| altLabel |
SYNS2 |
|
| cui |
C1832708 |
|
| Gene Locus |
20q11.2 |
|
| Gene Symbol |
GDF5 CDMP1 SYNS2 SYM1B DUPANS OS5 BDA1C |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU008915 http://purl.bioontology.org/ontology/OMIM/MTHU054511 http://purl.bioontology.org/ontology/OMIM/MTHU015389 http://purl.bioontology.org/ontology/OMIM/MTHU054510 http://purl.bioontology.org/ontology/OMIM/MTHU054509 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU036811 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU015385 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
610017 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MULTIPLE SYNOSTOSES SYNDROME 2 |
|
| Scope Statement |
Caused by mutation in the growth/differentiation factor-5 gene (GDF5, 601146.0011) [MOLECULAR BASIS] |
|
| tui |
T047 |