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| Term | Ehlers-Danlos syndrome periodontal type 1 | ID (Ontology) | DOID:0080986 (Human Disease) |
| Definition | 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. | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ collagen disease | |__Ehlers-Danlos syndrome______| Ehlers-Danlos syndrome periodontal type 1 2 rec. |
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Relationships
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| Is a |
autosomal dominant disease Ehlers-Danlos syndrome |
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External Crossreferences & Linkouts
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GARD:12474 MIM:130080 ORDO:75392 |
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