Ehlers-Danlos Syndrome Musculocontractural Type 1
Disease ID: disease_node_18761
Connections displayed (default: 10).
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| Dbxref | MIM:601776 |
|---|---|
| Subclassof | DOID_0050737, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome musculocontractural type 1 |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18761 |
| Doid Id | DOID_0080736 |
| Label | Ehlers-Danlos Syndrome Musculocontractural 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)