ID

45027

Descripción

Principal Investigator: Michael Cunningham, MD, PhD, University of Washington, Seattle, WA, USA MeSH: Auriculo-condylar syndrome https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000437 This project is part of an ongoing project to identify the molecular genetic basis of rare craniofacial disorders. This specific project involved the collection of DNA samples from four probands with severe manifestations of auriculocondylar syndrome and their parents. Detailed clinical phenotypic data is available on each proband. The sole purpose of this research is to identify the molecular cause(s) of auriculochondylar syndrome.

Link

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000437

Palabras clave

  1. 22/7/22 22/7/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

Michael Cunningham, MD, PhD, University of Washington, Seattle, WA, USA

Subido en

22 de julio de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000437 Next Generation Mendelian Genetics: Auriculocondylar Syndrome (ACS)

Eligibility Criteria

Inclusion and exclusion criteria
Descripción

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Inclusion Criteria:* Individuals born with classic features of auriculocondylar syndrome (ear malformations, microsyngnathia) and their parents.
Descripción

Elig.phs000437.v1.p1.1

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1865295
UMLS CUI [1,3]
C0030551
*Exclusion criteria:* Isolated micrognathia or isolated ear malformations.
Descripción

Elig.phs000437.v1.p1.2

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [2,1]
C0205409
UMLS CUI [2,2]
C0025990
UMLS CUI [3,1]
C0205409
UMLS CUI [3,2]
C0000768
UMLS CUI [3,3]
C0013443

Similar models

Eligibility Criteria

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000437.v1.p1.1
Item
*Inclusion Criteria:* Individuals born with classic features of auriculocondylar syndrome (ear malformations, microsyngnathia) and their parents.
boolean
C1512693 (UMLS CUI [1,1])
C1865295 (UMLS CUI [1,2])
C0030551 (UMLS CUI [1,3])
Elig.phs000437.v1.p1.2
Item
*Exclusion criteria:* Isolated micrognathia or isolated ear malformations.
boolean
C0680251 (UMLS CUI [1,1])
C0205409 (UMLS CUI [2,1])
C0025990 (UMLS CUI [2,2])
C0205409 (UMLS CUI [3,1])
C0000768 (UMLS CUI [3,2])
C0013443 (UMLS CUI [3,3])

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