Ehlers-Danlos Syndrome Classic-Like 2
Disease ID: disease_node_18765
Connections displayed (default: 10).
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| Dbxref | MIM:618000 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome classic-like 2 |
| Doid Description | An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18765 |
| Doid Id | DOID_0080732 |
| Label | Ehlers-Danlos Syndrome Classic-Like 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)