ID

45356

Description

Principal Investigator: Peter Byers, MD, University of Washington School of Medicine, Seattle, WA, USA MeSH: Ehlers-Danlos Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000540 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. Ehlers-Danlos syndrome Type VIII is a dominantly inherited connective tissue disorder that is distinguished from other forms of EDS by significant early-onset periodontal disease. Although the clinical phenotype is well delineated, the underlying molecular basis remains unknown. By studying a large family of affected and unaffected individuals with the EDS VIII by exome sequencing, we hope to identify unique regions of homology to assist in identifying the causative gene.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000540

Keywords

Versions (2)
  1. 11/4/22 11/4/22 - Simon Heim
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

Peter Byers, MD, University of Washington School of Medicine, Seattle, WA, USA

Uploaded on

November 4, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000540 Next Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

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".
Description

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".

Data type

boolean

Alias
UMLS CUI [1,1]
C0015576
UMLS CUI [1,2]
C0205210
UMLS CUI [1,3]
C0031437
UMLS CUI [1,4]
C0268347
UMLS CUI [1,5]
C0583570
UMLS CUI [2,1]
C2349022
UMLS CUI [2,2]
C0268347
UMLS CUI [2,3]
C0814120
UMLS CUI [2,4]
C0031090
UMLS CUI [2,5]
C0750502
UMLS CUI [2,6]
C2136686
UMLS CUI [2,7]
C1704680
UMLS CUI [2,8]
C0230444
UMLS CUI [2,9]
C0086282
UMLS CUI [2,10]
C1521970
UMLS CUI [2,11]
C0392760
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Similar models

Eligibility Criteria

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
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".
Item
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".
boolean
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])
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