MitoExome Sequencing of Mitochondrial OXPHOS Diseases (MGH)

AGE_OF_MITO_DX - Age at first biochemical/genetic test for mitochondrial disease. Age from medical record converted to years (e.g. 1 month => 0.08333 years) (phv00180632.v1.p1)
AGE_OF_ONSET - Age of onset of symptoms, converted to years (e.g. 1 month => 0.08333 years), rounded to at most three decimal places. (phv00180630.v1.p1)
GENDER - Gender of participant (phv00156596.v2.p1)
SEX - Sex (phv00156589.v1.p1)

AFFECTION_STATUS - Case - control status of the subject. (phv00156584.v1.p1)
CONSANGUINITY - Consanguinity reported in medical history (phv00180634.v1.p1)
FAMILY_HISTORY - First-degree relative with phenotype highly similar to proband (phv00180633.v1.p1)

AGE_OF_ONSET_UNCERTAIN - Flag denoting if the age of onset is uncertain (phv00180631.v1.p1)
ANALYTE_TYPE - Analyte Type. (phv00164722.v1.p1)
BERNIER_CRITERIA - Status of OXPHOS disease diagnosis based on Bernier diagnostic criteria (phv00156599.v2.p1)
CLINICAL_DESCRIPTION - Description of patient phenotype and clinical history (phv00180629.v1.p1)
CONSENT - Consent group as determined by DAC. (phv00156581.v1.p1)
FAMID - Family ID (phv00156585.v1.p1)
FATHER - Father's Subject ID (phv00156588.v1.p1)
HYBRID_SELECTION_DESIGN - Design number of the hybrid selection reagents (phv00156595.v2.p1)
MORAVA_SCORE - Score of OXPHOS disease diagnosis based on Morava diagnostic criteria (phv00156600.v2.p1)
MOTHER - Mother's Subject ID (phv00156587.v1.p1)
SAMPID - Sample ID (phv00156591.v1.p1)
SAMPID - De-identified Sample ID. (phv00164720.v1.p1)
SAMPLE_USE - Subject's sample use. (phv00164717.v1.p1)
SUBJID - Deidentified Subject's ID (phv00156594.v2.p1)
SUBJID - Unique Subject ID (phv00156586.v1.p1)
SUBJID - Subject ID (phv00156580.v1.p1)
SUBJID - Subject ID (phv00156590.v1.p1)
TISSUE_SOURCE - Tissue from which DNA was extracted. (phv00164721.v1.p1)