Genetic analysis of patients with Inherited Retinal Dystrophies (IRDs) using next generation sequencing to identify the causative variants
Demographics (3)
- age_blood_draw - Subject age at blood draw (phv00389160.v3.p1)
- SEX - Sex (phv00389145.v3.p1)
- SEX - Gender of participant (phv00481734.v1.p1)
General Health (2)
- healthy_controls - Absence of retinal abnormalities in participant (phv00389159.v3.p1)
- visual_acuities - Clarity of vision (phv00389156.v3.p1)
Race and Ethnicity (1)
- ethnicity - Ethnicity of participant (phv00389151.v3.p1)
Other (24)
- ANALYTE_TYPE - Analyte Type (phv00389163.v3.p1)
- BODY_SITE - Body site where sample was collected (phv00389162.v3.p1)
- clinical_diagnosis - Specific conditions (phv00389158.v3.p1)
- CONSENT - Consent group as determined by DAC (phv00389140.v3.p1)
- FAMILY_ID - Family ID (phv00389141.v3.p1)
- FATHER - Father's Subject ID (phv00389144.v3.p1)
- fundus_examination - Qualitative data of fundus examination (phv00389153.v3.p1)
- GENOTYPING_CENTER - Name of the center which conducted genotyping (phv00389165.v3.p1)
- IS_TUMOR - Tumor status (phv00389164.v3.p1)
- MONOZYGOTIC_TWIN - Monozygotic Twin (phv00405318.v2.p1)
- MONOZYGOTIC_TWIN_ID - Monozygotic Twin ID (phv00405401.v2.p1)
- MOTHER - Mother's Subject ID (phv00389143.v3.p1)
- night_blindness - Night_blindness Symptom present in participant: Yes/No (phv00389157.v3.p1)
- OTHER - Other relationship (phv00394989.v3.p1)
- retina_history - Family history of retinal degeneration (phv00389152.v3.p1)
- retinal_changes - Qualitative data of retinal appearance in participants (phv00389154.v3.p1)
- RPE_changes - Qualitative data of Retinal pigment epithelium (RPE) changes (phv00389155.v3.p1)
- SAMPLE_ID - De-identified Sample ID (phv00389161.v3.p1)
- SAMPLE_ID - Sample ID (phv00389147.v3.p1)
- SUBJECT_ID - De-identified Subject ID (phv00389149.v3.p1)
- SUBJECT_ID - Unique Subject ID (phv00389142.v3.p1)
- SUBJECT_ID - Subject ID (phv00389139.v3.p1)
- SUBJECT_ID - Subject ID (phv00389146.v3.p1)
- visual_severity - Severity of vision (phv00397333.v2.p1)