Ehlers-Danlos Syndrome Spondylodysplastic Type 3
Disease ID: disease_node_18758
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| Dbxref | MIM:612350 |
|---|---|
| Subclassof | DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome spondylodysplastic type 3 |
| Doid Description | An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. |
| Disease Node Id | disease_node_18758 |
| Doid Id | DOID_0080739 |
| Label | Ehlers-Danlos Syndrome Spondylodysplastic Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease)