MCID: SRY003

Sry-Related 46,xy Dsd and 46,xy Cgd malady

Category: Genetic diseases (common)

Aliases & Classifications for Sry-Related 46,xy Dsd and 46,xy Cgd

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Aliases & Descriptions for Sry-Related 46,xy Dsd and 46,xy Cgd:

Name: Sry-Related 46,xy Dsd and 46,xy Cgd 23
Swyer Syndrome 23 66
Gonadal Dysgenesis, 46,xy 66
 
46,xy Gonadal Dysgenesis 23
46,xy Sex Reversal 23
Xy Sex Reversal 23

Classifications:



Summaries for Sry-Related 46,xy Dsd and 46,xy Cgd

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MalaCards based summary: Sry-Related 46,xy Dsd and 46,xy Cgd, also known as swyer syndrome, is related to adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete and 46xy partial gonadal dysgenesis, with minifascicular neuropathy. An important gene associated with Sry-Related 46,xy Dsd and 46,xy Cgd is SRY (Sex Determining Region Y).

Related Diseases for Sry-Related 46,xy Dsd and 46,xy Cgd

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Graphical network of diseases related to Sry-Related 46,xy Dsd and 46,xy Cgd:



Diseases related to sry-related 46,xy dsd and 46,xy cgd

Symptoms for Sry-Related 46,xy Dsd and 46,xy Cgd

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Drugs & Therapeutics for Sry-Related 46,xy Dsd and 46,xy Cgd

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Sry-Related 46,xy Dsd and 46,xy Cgd

Genetic Tests for Sry-Related 46,xy Dsd and 46,xy Cgd

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Genetic tests related to Sry-Related 46,xy Dsd and 46,xy Cgd:

id Genetic test Affiliating Genes
1 Sry-Related 46,xy Dsd and 46,xy Cgd23 SRY

Anatomical Context for Sry-Related 46,xy Dsd and 46,xy Cgd

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Animal Models for Sry-Related 46,xy Dsd and 46,xy Cgd or affiliated genes

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Publications for Sry-Related 46,xy Dsd and 46,xy Cgd

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Variations for Sry-Related 46,xy Dsd and 46,xy Cgd

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Copy number variations for Sry-Related 46,xy Dsd and 46,xy Cgd from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
157472116340000077100000Copy numberSF1XY sex reversal
2115448175760000062600000AmplificationSOX9XY sex reversal

Expression for genes affiliated with Sry-Related 46,xy Dsd and 46,xy Cgd

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Search GEO for disease gene expression data for Sry-Related 46,xy Dsd and 46,xy Cgd.

Pathways for genes affiliated with Sry-Related 46,xy Dsd and 46,xy Cgd

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GO Terms for genes affiliated with Sry-Related 46,xy Dsd and 46,xy Cgd

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Sources for Sry-Related 46,xy Dsd and 46,xy Cgd

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet