Ehlers-Danlos Syndrome Spondylodysplastic Type 1
Disease ID: disease_node_18759
Connections displayed (default: 10).
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| Dbxref | MIM:130070 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome spondylodysplastic type 1 |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18759 |
| Doid Id | DOID_0080738 |
| Label | Ehlers-Danlos Syndrome Spondylodysplastic Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease)