Ehlers-Danlos Syndrome Arthrochalasia Type 1
Disease ID: disease_node_18770
Connections displayed (default: 10).
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| Dbxref | MIM:130060 |
|---|---|
| Subclassof | DOID_0050736, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome arthrochalasia type 1 |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18770 |
| Doid Id | DOID_0080727 |
| Label | Ehlers-Danlos Syndrome Arthrochalasia Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease)