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 49 11
Dosage-Sensitive Sex Reversal 45 67 65
46,xy Sex Reversal 2 67 24
 
Dss 45 67
46,xy Sex Reversal Dax1-Related 67
Srxy2 67

Characteristics:

HPO:

61
46xy sex reversal 2, dosage-sensitive:
Inheritance: x-linked inheritance


Classifications:



External Ids:

OMIM49 300018
MedGen34 C1848296
MeSH36 D058490
UMLS65 C1848296

Summaries for 46xy Sex Reversal 2, Dosage-Sensitive

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UniProtKB/Swiss-Prot:67 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 neuropathy, congenital hypomyelinating, 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:49 300018

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

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Graphical network of the top 20 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

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

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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet