This is a single family with the clinical phenotype of EDS VIII. Individuals were examined by a clinical geneticist. Unique features of EDS VIII include early onset periodontal disease and significant bruising and staining of shins. Only family members with these features were included as "affected".
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This is a single family with the clinical phenotype of EDS VIII. Individuals were examined by a clinical geneticist. Unique features of EDS VIII include early onset periodontal disease and significant bruising and staining of shins. Only family members with these features were included as "affected".
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C0015576 (UMLS CUI [1,1])
C0205210 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C0268347 (UMLS CUI [1,4])
C0583570 (UMLS CUI [1,5])
C2349022 (UMLS CUI [2,1])
C0268347 (UMLS CUI [2,2])
C0814120 (UMLS CUI [2,3])
C0031090 (UMLS CUI [2,4])
C0750502 (UMLS CUI [2,5])
C2136686 (UMLS CUI [2,6])
C1704680 (UMLS CUI [2,7])
C0230444 (UMLS CUI [2,8])
C0086282 (UMLS CUI [2,9])
C1521970 (UMLS CUI [2,10])
C0392760 (UMLS CUI [2,11])