Ehlers-Danlos Syndrome Musculocontractural Type 2
Disease ID: disease_node_18760
Connections displayed (default: 10).
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| Dbxref | MIM:615539 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome musculocontractural type 2 |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities, skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications, and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18760 |
| Doid Id | DOID_0080737 |
| Label | Ehlers-Danlos Syndrome Musculocontractural Type 2 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)