0 Evaluaciones

ID

45525

Descripción

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

Palabras clave

  1. 14/12/22 14/12/22 - Simon Heim
Titular de derechos de autor

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

Subido en

14 de diciembre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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    dbGaP phs000707 Next Generation Mendelian Genetics: Hereditary Neurological Disorders

    Sample - Attribute Information

    pht003717
    Descripción

    pht003717

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    De-identified Sample ID
    Descripción

    SAMPID

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C4684638 (De-identified Information)
    UMLS CUI [1,2]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Body site where sample was collected
    Descripción

    BODY_SITE

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C0449705 (Site of sampling)
    SNOMED
    246317007
    LOINC
    MTHU008875
    Analyte type
    Descripción

    ANALYTE_TYPE

    Tipo de datos

    string

    Alias
    UMLS CUI [1,1]
    C4744818 (Analyte Type)

    Similar models

    Sample - Attribute Information

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de datos
    Alias
    Item Group
    pht003717
    C3846158 (UMLS CUI [1,1])
    SAMPID
    Item
    De-identified Sample ID
    string
    C4684638 (UMLS CUI [1,1])
    C1299222 (UMLS CUI [1,2])
    BODY_SITE
    Item
    Body site where sample was collected
    string
    C0449705 (UMLS CUI [1,1])
    ANALYTE_TYPE
    Item
    Analyte type
    string
    C4744818 (UMLS CUI [1,1])

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