CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome

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Anthropometry (2)

Height - Height (phv00430644.v1.p1)
Weight - Weight (phv00430645.v1.p1)

Demographics (4)

Age - Age (phv00430639.v1.p1)
BirthYear - Birth year (phv00430648.v1.p1)
SEX - Sex (phv00430640.v1.p1)
SEX - Sex (phv00430635.v1.p1)

Disease Events (4)

_FAMILYHISTORY - Family History (phv00430663.v1.p1)
_FAMILYVASCULARHISTORY - Family Vascular History (phv00430704.v1.p1)
_POSITIVEFAMILYHISTORY - Positive Family History (phv00430674.v1.p1)
AFFECTION_STATUS - Case control status of the subject for Ehlers-Danlos Syndrome (EDS) (phv00430630.v1.p1)

Race and Ethnicity (1)

RACE - Race (phv00430642.v1.p1)

Other (79)

_ABNORMALSKIN - Abnormal Skin (phv00430687.v1.p1)
_ACROGERIA - Acrogeria (phv00430697.v1.p1)
_ADDITIONALCLASSICNOTES - Additional Classic Notes (phv00430667.v1.p1)
_ADDITIONALHYPERNOTES - Additional Hyper Notes (phv00430691.v1.p1)
_ADDITIONALVASCULARNOTES - Addditional Vascular Notes (phv00430707.v1.p1)
_ARACHNODACTYLYSTEINBERG - Arachnodactyl Steinberg (phv00430685.v1.p1)
_ARACHNODACTYLYWRISTSIGN - Arachnodactyl Wrist Sign (phv00430686.v1.p1)
_ARTERIALORGANFRAGILITY - Arterial Organ Fragility (phv00430693.v1.p1)
_ARTHRALGIA - Arthralgia (phv00430677.v1.p1)
_ARTHRALGIA4JOINTS - Arthralgia4 Joints (phv00430708.v1.p1)
_ATROPHICSCARRING - Atrophic Scaring (phv00430653.v1.p1)
_BEIGHTONCRITERIA123 - Beighton Criteria 123 (phv00430710.v1.p1)
_BEIGHTONSCORE - Beighton Score (phv00430650.v1.p1)
_BEIGHTONSCORE1 - Beighton Score 1 (phv00430668.v1.p1)
_BEIGHTONSCORE4 - Beighton Score 4 (phv00430676.v1.p1)
_CHARACTERISTICFACIALAPPEARA - Characteristic Facial Appearance (phv00430695.v1.p1)
_CHRONICJOINTLIMBPAIN - Chronic Joint Limb Pain (phv00430673.v1.p1)
_COMPLICATIONSHYPERMOBILITY - Complications from Hypermobility (phv00430658.v1.p1)
_DISLOCATIONSUBLUXATION - Dislocation Subluxation (phv00430678.v1.p1)
_DROOPINGEYELIDS - Drooping Eyelids (phv00430688.v1.p1)
_EARLYVARICOSITIES - Early Varicosities (phv00430701.v1.p1)
_EASYBRUISING - Easy Bruising (phv00430660.v1.p1)
_EXTENSIVEBRUISING - Extensive Bruising (phv00430694.v1.p1)
_GINGIVALRECESSION - Gingival Recession (phv00430703.v1.p1)
_HYPERMOBILESMALLJOINTS - Hyper Mobile Mall Joints (phv00430698.v1.p1)
_JOINTHYPERMOBILITY - Joint Hypermobility (phv00430651.v1.p1)
_JOINTHYPERMOBILITY1 - Joint Hypermobility 1 (phv00430669.v1.p1)
_MAJORCRITERIA2 - Major Criteria 2 (phv00430709.v1.p1)
_MARFANOIDHABITUS - Marfanoid Habitus (phv00430680.v1.p1)
_MOLECULARTESTINGDONE - Molecular Testing Done (phv00430665.v1.p1)
_MOLLUSCOIDPSEUDOTUMORS - Molluscoid Pseusdotumors (phv00430656.v1.p1)
_MUSCLEHYPOTONIA - Muscle Hypotonia (phv00430659.v1.p1)
_NUMBERMAJORCRITERIA - Number Major Criteria (phv00430671.v1.p1)
_NUMBERMINORCRITERIA - Number of Minor Criteria (phv00430675.v1.p1)
_NUMBERMINORCRITERIA2 - Number of Minor Criteria 2 (phv00430690.v1.p1)
_NUMBERVASCULARCRITERIA - Number of Vascular Criteria (phv00430696.v1.p1)
_NUMMAJOR FEATURES - Number of Major Features (phv00430654.v1.p1)
_NUMMINORFEATURES - Number of Minor Features (phv00430664.v1.p1)
_NUNBERMINORFEATURES - Number of Minor Features (phv00430705.v1.p1)
_PNEUMOTHORAX - Pneumothorax (phv00430702.v1.p1)
_POSITIVEFOR - Postive For (phv00430666.v1.p1)
_RECURRJOINTDISLOCATIONS - Reoccurring Joint Dislocations (phv00430672.v1.p1)
_SKINHYPEREXTENSIBILITY - Skin Hyperextensibility (phv00430652.v1.p1)
_SKININVOLVEMENT - Skin Involvement (phv00430670.v1.p1)
_SLIMWEIGHT - Slim Weight (phv00430682.v1.p1)
_SOFTTISSUERHEUMATISM - Soft Tissue Rheumatism (phv00430679.v1.p1)
_SPANHEIGHTRATIO - Span Height Ratio (phv00430683.v1.p1)
_SUBCUTANEOUSSPHEROIDS - Subcutaneous Spheroids (phv00430657.v1.p1)
_SURGICALCOMPLICATIONS - Surgical Complications (phv00430662.v1.p1)
_TALIPESEQUINOVARUS - Talipese Quinovarus (phv00430700.v1.p1)
_TALLHEIGHT - Tall Height (phv00430681.v1.p1)
_TENDONMUSCLERUPTURE - Tendon Muscle Rupture (phv00430699.v1.p1)
_TESTING_COL3A1 - Testing Col 3A1 (phv00430706.v1.p1)
_THINTRANSLUCENTSKIN - Thin Translucent Skin (phv00430692.v1.p1)
_TISSUEFRAGILITY - Tissue Fragility (phv00430661.v1.p1)
_U_L_SEGMENTRATIO - U L Segment Ratio (phv00430684.v1.p1)
_VARICOSEVEINS - Varicose Veins (phv00430689.v1.p1)
_VELVETYSKIN - Velvety Skin (phv00430655.v1.p1)
ANALYTE Type - The analyte type of the sample (DNA or RNA) (phv00430712.v1.p1)
Class_diagnosis - Class Diagnosis (phv00430646.v1.p1)
CONSENT - Consent group as determined by DAC (phv00430627.v1.p1)
DNA SOURCE - Source from which DNA was collected (phv00430713.v1.p1)
FAMILY_ID - Family ID (phv00430631.v1.p1)
FATHER - Father's Subject ID (phv00430634.v1.p1)
Is tumor - Whether or not the DNA came from a tumor (phv00430714.v1.p1)
MOTHER - Mother's Subject ID (phv00430633.v1.p1)
SAMPLE_ID - Sample ID (phv00430711.v1.p1)
SAMPLE_ID - Sample ID (phv00430637.v1.p1)
SEQUENCING_CENTER - Name of the center which conducted sequencing (phv00430715.v1.p1)
Source_diag - Source Diagnosis (phv00430647.v1.p1)
SOURCE_SUBJECT_ID - Subject ID used in the Source Repository (phv00430629.v1.p1)
StudyEvent - Study Event (phv00430649.v1.p1)
SUBJECT_ID - Subject ID (phv00430638.v1.p1)
SUBJECT_ID - Subject ID (phv00430626.v1.p1)
SUBJECT_ID - Subject ID (phv00430632.v1.p1)
SUBJECT_ID - Subject ID (phv00430636.v1.p1)
SUBJECT_SOURCE - Source repository where subjects originate (phv00430628.v1.p1)
VISDATE - Year of Visit (phv00430641.v1.p1)
visitNum - Visit Number (phv00430643.v1.p1)