Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 3
Disease ID: disease_node_15664
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| Dbxref | MIM:618395 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112197 |
| Data Source | DOID |
| Synonyms | SEMDJL3 |
| Doid Label | spondyloepimetaphyseal dysplasia with joint laxity type 3 |
| Doid Description | A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15664 |
| Doid Id | DOID_0112200 |
| Label | Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)