ID

45674

Description

Principal Investigator: Michael Talkowski, Massachusetts General Hospital, Boston, MA, USA MeSH: Arhinia, choanal atresia, and microphthalmia,Kallmann Syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001246 The goal of this project is to determine the genetic etiology of congenital arhinia and Bosma arhinia microphthalmia syndrome through a combination of whole-exome, whole-genome, and targeted sequencing followed by in silico, in vitro, and in vivo functional modeling.

Link

dbGaP study = phs001246

Keywords

Versions (1)
  1. 4/6/23 4/6/23 - Simon Heim
Copyright Holder

Michael Talkowski, Massachusetts General Hospital, Boston, MA, USA

Uploaded on

April 6, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs001246 Genetics of Arhinia

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Inclusion:
Description

Inclusion:

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
Whole exome sequencing: Patients with arhinia and available family members
Description

Whole exome sequencing: Patients with arhinia and available family members

Data type

boolean

Alias
UMLS CUI [1,1]
C3640077
UMLS CUI [1,2]
C0265740
UMLS CUI [1,3]
C0470187
UMLS CUI [1,4]
C0086282
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
Description

Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:

Data type

boolean

Alias
UMLS CUI [1,1]
C3640076
UMLS CUI [1,2]
C0015576
UMLS CUI [1,3]
C0265740
UMLS CUI [1,4]
C1515010
UMLS CUI [1,5]
C0031437
UMLS CUI [1,6]
C0003126
UMLS CUI [1,7]
C0332514
UMLS CUI [1,8]
C3553737
UMLS CUI [2,1]
C0680251
None
Description

None

Data type

boolean

Alias
UMLS CUI [1,1]
C0549184
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Similar models

Eligibility Criteria

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Inclusion:
Item
Inclusion:
boolean
C1512693 (UMLS CUI [1,1])
Whole exome sequencing: Patients with arhinia and available family members
Item
Whole exome sequencing: Patients with arhinia and available family members
boolean
C3640077 (UMLS CUI [1,1])
C0265740 (UMLS CUI [1,2])
C0470187 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
Item
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
boolean
C3640076 (UMLS CUI [1,1])
C0015576 (UMLS CUI [1,2])
C0265740 (UMLS CUI [1,3])
C1515010 (UMLS CUI [1,4])
C0031437 (UMLS CUI [1,5])
C0003126 (UMLS CUI [1,6])
C0332514 (UMLS CUI [1,7])
C3553737 (UMLS CUI [1,8])
C0680251 (UMLS CUI [2,1])
None
Item
None
boolean
C0549184 (UMLS CUI [1,1])
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