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.

Lien

dbGaP study = phs000707

Mots-clés

Versions (1)
  1. 14/12/22 14/12/22 - Simon Heim
Détendeur de droits

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

Téléchargé le

14 dicembre 2022

DOI

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Licence

Creative Commons BY 4.0
Modèle Commentaires :

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dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders

Anglais

Eligibility Criteria

5 Formulaires  
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.

Type de données

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 Formulaires
Name
Type
Description | Question | Decode (Coded Value)
Type de données
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])
Retour au début de la page 

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