ID

45306

Description

Principal Investigator: William Crowley, PhD, Massachusetts General Hospital, Boston, MA, USA MeSH: GnRH,Kallmann Syndrome,Hypogonadism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000475 The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and ataxia, amongst others.

Link

dbGaP study = phs000475

Keywords

  1. 19/10/2022 19/10/2022 - Adrian Schulz
Copyright Holder

William Crowley, PhD, Massachusetts General Hospital, Boston, MA, USA

Uploaded on

19 octobre 2022

DOI

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License

Creative Commons BY 4.0

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dbGaP phs000475 The Molecular Basis of Inherited Reproductive Disorders

Subject - Consent - Affection Status (Cases) Information

pht002689
Description

pht002689

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
Case control status of the subject
Description

AFFECTION_STATUS

Data type

text

Alias
UMLS CUI [1,1]
C3274646
Consent status
Description

CONSENT

Data type

text

Alias
UMLS CUI [1,1]
C0021430

Similar models

Subject - Consent - Affection Status (Cases) Information

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002689
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)
C3274648 (UMLS CUI [1,1])
CL Item
Case (2)
C3274647 (UMLS CUI [1,1])
Item
Consent status
text
C0021430 (UMLS CUI [1,1])
Code List
Consent status
CL Item
General Research Use (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])

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