Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2
Disease ID: disease_node_15665
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| Dbxref | MIM:603546, ORDO:93360 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112197 |
| Data Source | DOID |
| Synonyms | SEMD-MD, SEMDJL2, spondyloepimetaphyseal dysplasia with joint laxicity, Hall type, spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type |
| Doid Label | spondyloepimetaphyseal dysplasia with joint laxity type 2 |
| Doid Description | A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15665 |
| Doid Id | DOID_0112199 |
| Label | Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)