Ehlers-Danlos Syndrome Kyphoscoliotic Type 2
Disease ID: disease_node_18762
Connections displayed (default: 10).
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| Dbxref | MIM:614557 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome kyphoscoliotic type 2 |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18762 |
| Doid Id | DOID_0080735 |
| Label | Ehlers-Danlos Syndrome Kyphoscoliotic Type 2 |
- 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)