ID
45006
Descrizione
Principal Investigator: Eric Lander, Broad Institute, Cambridge, MA, USA MeSH: Congenital Abnormalities,Bardet-Biedl Syndrome,Orofaciodigital Syndromes https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000288 The study is aimed at identifying new genes involved in pediatric brain disorders from inbred families originating predominantly in the Middle East. Each patient analyzed to date has a specific and highly unique neurodevelopmental disorder that is likely to be recessive in nature. Many patients have one of the diseases along the "ciliopathy" spectrum of diseases, with evidence of kidney failure, retinal blindness and cerebellar ataxia.
collegamento
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000288
Keywords
versioni (2)
- 04/07/22 04/07/22 - Chiara Middel
- 12/10/22 12/10/22 - Adrian Schulz
Titolare del copyright
Eric Lander, Broad Institute, Cambridge, MA, USA
Caricato su
4 luglio 2022
DOI
Per favore, per richiedere un accesso.
Licenza
Creative Commons BY 4.0
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dbGaP phs000288 Ciliopathies Exome Sequencing Initiative
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Family ID, subject ID, mother ID, father ID, sex, and twin ID of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, age, gender, and ethnicity of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of samples of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Family ID, subject ID, mother ID, father ID, sex, and twin ID of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Subject ID, age, gender, and ethnicity of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
- Sample ID, body site where sample was obtained, analyte type, histological type of sample, and tumor status of samples of participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.
C0680251 (UMLS CUI [1,2])
C1517194 (UMLS CUI [1,2])
C1519210 (UMLS CUI [1,3])
C3844700 (UMLS CUI [2,1])
C0086282 (UMLS CUI [2,2])
C0522476 (UMLS CUI [2,3])
C0017337 (UMLS CUI [1,2])
C3899368 (UMLS CUI [1,3])
C2828389 (UMLS CUI [2,1])
C0017337 (UMLS CUI [2,2])
C1708726 (UMLS CUI [2,3])
C1265611 (UMLS CUI [1,2])
C3272453 (UMLS CUI [1,3])
C0332306 (UMLS CUI [1,2])
C0012854 (UMLS CUI [1,3])
C0012854 (UMLS CUI [2,1])
C2349182 (UMLS CUI [2,2])
C0017393 (UMLS CUI [2,3])
C0079399 (UMLS CUI [2,4])
C0012854 (UMLS CUI [3,1])
C2349182 (UMLS CUI [3,2])
C0728826 (UMLS CUI [3,3])
C0796346 (UMLS CUI [3,4])
C0023745 (UMLS CUI [1,2])
C3702387 (UMLS CUI [1,3])