MCID: 46X026
MIFTS: 19

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 52 12
Dosage-Sensitive Sex Reversal 48 70 68
46,xy Sex Reversal 2 70 27
Dss 48 70
 
46, Xy Disorders of Sex Development 39
46,xy Sex Reversal Dax1-Related 70
Srxy2 70

Characteristics:

HPO:

64
46xy sex reversal 2, dosage-sensitive:
Inheritance: x-linked inheritance

Classifications:



External Ids:

OMIM52 300018
MedGen37 C1848296
MeSH39 D058490

Summaries for 46xy Sex Reversal 2, Dosage-Sensitive

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for 46xy Sex Reversal 2, Dosage-Sensitive

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Symptoms by clinical synopsis from OMIM:

300018

Clinical features from OMIM:

300018

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

 64
id Description HPO Frequency HPO Source Accession
1 sex reversal64 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 227

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

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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, DUPduplicationPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet