Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Disease ID: disease_node_18763
Connections displayed (default: 10).
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| Dbxref | MIM:225400 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome kyphoscoliotic type 1 |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18763 |
| Doid Id | DOID_0080734 |
| Label | Ehlers-Danlos Syndrome Kyphoscoliotic 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)