Ehlers-Danlos Syndrome Periodontal Type 1
Disease ID: disease_node_18773
Connections displayed (default: 10).
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| Dbxref | GARD:12474, MIM:130080, ORDO:75392 |
|---|---|
| Subclassof | DOID_0050736, DOID_13359 |
| Data Source | DOID |
| Doid Label | Ehlers-Danlos syndrome periodontal type 1 |
| Doid Description | An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. |
| Has Phenotype | HP_0031158, HP_0001382, HP_0000974 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18773 |
| Doid Id | DOID_0080986 |
| Label | Ehlers-Danlos Syndrome Periodontal Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Ehlers-Danlos Syndrome(ID:disease_node_2744) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)