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Metadata
ID DOID:0080987
Name Ehlers-Danlos syndrome periodontal type 2
Definition An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13.
https://pubmed.ncbi.nlm.nih.gov/27745832/
Xrefs

GARD:12474

MIM:617174

ORDO:75392

Subsets

DO_rare_slim

Parent Relationships

is_a Ehlers-Danlos syndrome

is_a autosomal dominant disease

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