MCID: 46X026
MIFTS: 21

46xy Sex Reversal 2, Dosage-Sensitive malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for 46xy Sex Reversal 2, Dosage-Sensitive

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Aliases & Descriptions for 46xy Sex Reversal 2, Dosage-Sensitive:

Name: 46xy Sex Reversal 2, Dosage-Sensitive 50 12
Dosage-Sensitive Sex Reversal 46 68 66
46,xy Sex Reversal 2 68 25
Dss 46 68
 
46, Xy Disorders of Sex Development 37
46,xy Sex Reversal Dax1-Related 68
Srxy2 68

Characteristics:

HPO:

62
46xy sex reversal 2, dosage-sensitive:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM50 300018
MedGen35 C1848296
MeSH37 D058490

Summaries for 46xy Sex Reversal 2, Dosage-Sensitive

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UniProtKB/Swiss-Prot:68 46,XY sex reversal 2: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

MalaCards based summary: 46xy Sex Reversal 2, Dosage-Sensitive, also known as dosage-sensitive sex reversal, is related to nr0b1-related 46,xy dsd and 46,xy cgd and dengue shock syndrome, and has symptoms including sex reversal An important gene associated with 46xy Sex Reversal 2, Dosage-Sensitive is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1).

Description from OMIM:50 300018

Related Diseases for 46xy Sex Reversal 2, Dosage-Sensitive

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Graphical network of diseases related to 46xy Sex Reversal 2, Dosage-Sensitive:



Diseases related to 46xy sex reversal 2, dosage-sensitive

Symptoms for 46xy Sex Reversal 2, Dosage-Sensitive

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Symptoms by clinical synopsis from OMIM:

300018

Clinical features from OMIM:

300018

HPO human phenotypes related to 46xy Sex Reversal 2, Dosage-Sensitive:

id Description Frequency HPO Source Accession
1 sex reversal HP:0012245

Drugs & Therapeutics for 46xy Sex Reversal 2, Dosage-Sensitive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for 46xy Sex Reversal 2, Dosage-Sensitive


Cochrane evidence based reviews: 46, xy disorders of sex development

Genetic Tests for 46xy Sex Reversal 2, Dosage-Sensitive

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Genetic tests related to 46xy Sex Reversal 2, Dosage-Sensitive:

id Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 225

Anatomical Context for 46xy Sex Reversal 2, Dosage-Sensitive

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Animal Models for 46xy Sex Reversal 2, Dosage-Sensitive or affiliated genes

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Publications for 46xy Sex Reversal 2, Dosage-Sensitive

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Variations for 46xy Sex Reversal 2, Dosage-Sensitive

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Clinvar genetic disease variations for 46xy Sex Reversal 2, Dosage-Sensitive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NR0B1NR0B1, DUPduplicationPathogenic

Expression for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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Search GEO for disease gene expression data for 46xy Sex Reversal 2, Dosage-Sensitive.

Pathways for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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GO Terms for genes affiliated with 46xy Sex Reversal 2, Dosage-Sensitive

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Sources for 46xy Sex Reversal 2, Dosage-Sensitive

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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