ID

45525

Description

Principal Investigator: Wendy Raskind, University of Washington, Seattle, WA, USA MeSH: Nervous System Diseases,Ataxia,Charcot-Marie-Tooth Disease,Dyskinesia, Familial, with Facial Myokymia,Dystonia,Hereditary Sensory and Motor Neuropathy,Parkinsonian Disorders,Spinocerebellar Ataxias https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000707 The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases. This dataset was obtained from exome analyses of people with hereditary neurologic disorders of unknown cause.

Link

dbGaP study = phs000707

Keywords

Versions (1)
  1. 14/12/22 14/12/22 - Simon Heim
Copyright Holder

Wendy Raskind, University of Washington, Seattle, WA, USA

Uploaded on

14 de diciembre de 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Individuals with inherited neurologic disorders of unknown etiology were included in the studies. In most cases there is a multigenerational family history.
Description

Individuals with inherited neurologic disorders of unknown etiology were included in the studies. In most cases there is a multigenerational family history.

Data type

boolean

Alias
UMLS CUI [1,1]
C0439660
UMLS CUI [1,2]
C0027765
UMLS CUI [1,3]
C3669174
UMLS CUI [1,4]
C0743626
UMLS CUI [1,5]
C1512693
UMLS CUI [1,6]
C0241889
UMLS CUI [1,7]
C0015341
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Individuals with inherited neurologic disorders of unknown etiology were included in the studies. In most cases there is a multigenerational family history.
Item
Individuals with inherited neurologic disorders of unknown etiology were included in the studies. In most cases there is a multigenerational family history.
boolean
C0439660 (UMLS CUI [1,1])
C0027765 (UMLS CUI [1,2])
C3669174 (UMLS CUI [1,3])
C0743626 (UMLS CUI [1,4])
C1512693 (UMLS CUI [1,5])
C0241889 (UMLS CUI [1,6])
C0015341 (UMLS CUI [1,7])
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